#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
ARHGEF15	22899	broad.mit.edu	37	17	8216453	8216453	+	Missense_Mutation	SNP	G	G	A	rs113540851		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:8216453G>A	ENST00000361926.3	+	3	925	c.815G>A	c.(814-816)cGc>cAc	p.R272H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	272					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACTGCTGAGCGCAAACTCCTG	0.632																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(814-816)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15							67.0	58.0	61.0					17																	8216453		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216453G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.815G>A	17.37:g.8216453G>A	ENSP00000355026:p.Arg272His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R272H	p.R272H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	925	+			272					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.815G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.989840	0.18966	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.50277	0.75;0.75	5.13	0.498	0.16908	.	0.532402	0.19156	N	0.121302	T	0.23492	0.0568	N	0.11560	0.145	0.31243	N	0.694998	B	0.06786	0.001	B	0.01281	0.0	T	0.10753	-1.0616	10	0.38643	T	0.18	-7.7264	6.438	0.21835	0.4635:0.0:0.5365:0.0	.	272	O94989	ARHGF_HUMAN	H	272	ENSP00000355026:R272H;ENSP00000412505:R272H	ENSP00000355026:R272H	R	+	2	0	ARHGEF15	8157178	0.975000	0.34042	0.994000	0.49952	0.429000	0.31625	0.150000	0.16263	0.283000	0.22279	-0.367000	0.07326	CGC		0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		3	30	0	0	0	1	0	3	30				
ANO10	55129	broad.mit.edu	37	3	43591240	43591240	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:43591240T>C	ENST00000292246.3	-	11	1939	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000414522.2_Missense_Mutation_p.D590G	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	590					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAAAATGAGGTCTGCTTTTGA	0.383																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(1768-1770)gAc>gGc		anoctamin 10							141.0	134.0	136.0					3																	43591240		2202	4300	6502	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43591240T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1769A>G	3.37:g.43591240T>C	ENSP00000292246:p.Asp590Gly					ANO10_ENST00000414522.2_Missense_Mutation_p.D590G|ANO10_ENST00000451430.2_Missense_Mutation_p.D479G|ANO10_ENST00000396091.3_Missense_Mutation_p.D524G|ANO10_ENST00000350459.4_Missense_Mutation_p.D400G	p.D590G	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			11	1939	-			590					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1769A>G	CCDS2710.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.69|10.69	1.421884|1.421884	0.25639|0.25639	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430|ENST00000448045	T;T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01;-0.01|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.218523|.	0.47852|.	D|.	0.000220|.	T|T	0.52451|0.52451	0.1735|0.1735	N|N	0.24115|0.24115	0.695|0.695	0.41888|0.41888	D|D	0.990359|0.990359	B;B;B;B;B|.	0.28933|.	0.228;0.16;0.022;0.082;0.101|.	B;B;B;B;B|.	0.39706|.	0.236;0.307;0.032;0.173;0.266|.	T|T	0.50617|0.50617	-0.8807|-0.8807	10|5	0.23891|.	T|.	0.37|.	.|.	15.3175|15.3175	0.74092|0.74092	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	479;590;400;524;590|.	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;.;ANO10_HUMAN|.	G|A	590;400;524;590;479|118	ENSP00000292246:D590G;ENSP00000327767:D400G;ENSP00000379398:D524G;ENSP00000396990:D590G;ENSP00000394119:D479G|.	ENSP00000292246:D590G|.	D|T	-|-	2|1	0|0	ANO10|ANO10	43566244|43566244	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.440000|0.440000	0.31957|0.31957	5.890000|5.890000	0.69774|0.69774	2.026000|2.026000	0.59711|0.59711	0.528000|0.528000	0.53228|0.53228	GAC|ACC		0.383	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		8	82	0	0	0	1	0	8	82				
CCNB2	9133	broad.mit.edu	37	15	59406974	59406974	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:59406974C>T	ENST00000288207.2	+	5	687	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	166					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGGACGCATGCGTGCCATCCT	0.428																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(496-498)Cgt>Tgt		cyclin B2							189.0	177.0	181.0					15																	59406974		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59406974C>T	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.496C>T	15.37:g.59406974C>T	ENSP00000288207:p.Arg166Cys					CCNB2_ENST00000559622.1_Missense_Mutation_p.R85C	p.R166C	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			5	687	+			166					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.496C>T	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513207	0.85389	.	.	ENSG00000157456	ENST00000288207	T	0.54866	0.55	5.72	4.8	0.61643	Cyclin, N-terminal (2);Cyclin-like (2);	0.051968	0.85682	D	0.000000	D	0.84356	0.5454	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90366	0.4377	10	0.87932	D	0	.	13.0284	0.58829	0.2928:0.7072:0.0:0.0	.	166;166	Q53HG9;O95067	.;CCNB2_HUMAN	C	166	ENSP00000288207:R166C	ENSP00000288207:R166C	R	+	1	0	CCNB2	57194266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.009000	0.49552	1.406000	0.46857	0.655000	0.94253	CGT		0.428	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		36	75	0	0	0	1	0	36	75				
PCDHB4	56131	broad.mit.edu	37	5	140503073	140503073	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:140503073C>G	ENST00000194152.1	+	1	1493	c.1493C>G	c.(1492-1494)cCc>cGc	p.P498R	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	498	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)	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)			CCGCACCTGCCCCTCGCCTCC	0.687																																						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.(1492-1494)cCc>cGc									35.0	41.0	39.0					5																	140503073		2186	4251	6437	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503073C>G	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.1493C>G	5.37:g.140503073C>G	ENSP00000194152:p.Pro498Arg						p.P498R	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1493	+			498			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1493C>G	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856780	0.17106	.	.	ENSG00000081818	ENST00000194152	T	0.01705	4.68	3.95	0.854	0.19007	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	M	0.67569	2.06	0.09310	N	1	B	0.12013	0.005	B	0.21151	0.033	T	0.30650	-0.9971	9	0.72032	D	0.01	.	9.7262	0.40333	0.1466:0.5799:0.2735:0.0	.	498	Q9Y5E5	PCDB4_HUMAN	R	498	ENSP00000194152:P498R	ENSP00000194152:P498R	P	+	2	0	PCDHB4	140483257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	0.056000	0.16144	0.650000	0.86243	CCC		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		13	74	0	0	0	1	0	13	74				
KCNK5	8645	broad.mit.edu	37	6	39159391	39159391	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:39159391G>A	ENST00000359534.3	-	5	1113	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	259					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGCCGCCGCCGCTTCTTAATG	0.577																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(775-777)Cgg>Tgg		potassium channel, subfamily K, member 5							80.0	88.0	85.0					6																	39159391		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159391G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.775C>T	6.37:g.39159391G>A	ENSP00000352527:p.Arg259Trp						p.R259W	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1113	-			259					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.775C>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515791	0.64634	.	.	ENSG00000164626	ENST00000359534	T	0.25579	1.79	5.05	0.967	0.19674	.	4.915100	0.00589	N	0.000349	T	0.29256	0.0728	L	0.34521	1.04	0.44918	D	0.997933	D	0.89917	1.0	D	0.64687	0.928	T	0.39482	-0.9612	10	0.87932	D	0	.	15.0727	0.72049	0.0:0.0:0.3833:0.6167	.	259	O95279	KCNK5_HUMAN	W	259	ENSP00000352527:R259W	ENSP00000352527:R259W	R	-	1	2	KCNK5	39267369	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	2.654000	0.46699	-0.047000	0.13423	-0.310000	0.09108	CGG		0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		18	93	0	0	0	1	0	18	93				
EFHB	151651	broad.mit.edu	37	3	19962047	19962047	+	Missense_Mutation	SNP	T	T	A	rs377528277		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:19962047T>A	ENST00000295824.9	-	2	963	c.802A>T	c.(802-804)Att>Ttt	p.I268F	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.I138F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	268							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAACTGGAATAACTTTTCCT	0.383																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(802-804)Att>Ttt		EF-hand domain family, member B							79.0	81.0	80.0					3																	19962047		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19962047T>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.802A>T	3.37:g.19962047T>A	ENSP00000295824:p.Ile268Phe					EFHB_ENST00000344838.4_Missense_Mutation_p.I138F|EFHB_ENST00000498089.1_5'UTR	p.I268F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			2	963	-			268					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.802A>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249315	0.22880	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256	T;T;T	0.25085	1.82;1.85;2.13	5.75	-5.42	0.02640	.	1.212180	0.05777	N	0.608002	T	0.09992	0.0245	N	0.11106	0.095	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.001	T	0.27191	-1.0081	9	.	.	.	0.5269	3.2422	0.06784	0.5149:0.0698:0.2305:0.1848	.	138;268	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	F	268;138;268	ENSP00000295824:I268F;ENSP00000342263:I138F;ENSP00000373908:I268F	.	I	-	1	0	EFHB	19937051	0.001000	0.12720	0.004000	0.12327	0.939000	0.58152	-0.199000	0.09491	-0.798000	0.04444	0.533000	0.62120	ATT		0.383	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		5	57	0	0	0	1	0	5	57				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	65	0	0	0	1	0	4	65				
C6	729	broad.mit.edu	37	5	41160418	41160418	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:41160418G>A	ENST00000263413.3	-	11	1774	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	504	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTTGTTCCGTTTTGTCACT	0.522																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1510-1512)Cgg>Tgg		complement component 6							207.0	174.0	185.0					5																	41160418		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160418G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1510C>T	5.37:g.41160418G>A	ENSP00000263413:p.Arg504Trp					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R504W	p.R504W	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1774	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	504			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1510C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052640	0.75960	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.85702	-2.02;-2.02	5.91	1.84	0.25277	Membrane attack complex component/perforin (MACPF) domain (3);	0.342229	0.31697	N	0.007201	D	0.93135	0.7814	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94038	0.7307	10	0.87932	D	0	-17.7032	15.5991	0.76611	0.0:0.0:0.5284:0.4716	.	504	P13671	CO6_HUMAN	W	504	ENSP00000338861:R504W;ENSP00000263413:R504W	ENSP00000263413:R504W	R	-	1	2	C6	41196175	0.260000	0.24053	0.862000	0.33874	0.949000	0.60115	0.444000	0.21661	0.347000	0.23924	0.655000	0.94253	CGG		0.522	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			13	55	0	0	0	1	0	13	55				
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	rs182563365		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				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)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0					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.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	43.0		1627	-5.3	0.0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>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.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile					KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I	p.V543I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		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)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	16	0	0	0	1	0	4	16				
EML2	24139	broad.mit.edu	37	19	46122422	46122422	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:46122422C>T	ENST00000245925.3	-	12	1200	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	EML2_ENST00000587152.1_Missense_Mutation_p.A585T|EML2_ENST00000536630.1_Missense_Mutation_p.A531T|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.A384T	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	384	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGTGTGGCCAGGCCCCAC	0.597																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1591-1593)Gcc>Acc		echinoderm microtubule associated protein like 2							43.0	43.0	43.0					19																	46122422		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46122422C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1150G>A	19.37:g.46122422C>T	ENSP00000245925:p.Ala384Thr					EML2_ENST00000245925.3_Missense_Mutation_p.A384T|EML2_ENST00000589876.1_Missense_Mutation_p.A384T|EML2_ENST00000587152.1_Missense_Mutation_p.A585T	p.A531T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	15	1729	-		Ovarian(192;0.179)|all_neural(266;0.224)	384					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1591G>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390011	0.82902	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.63744	-0.06;-0.06;-0.06	4.11	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.188178	0.45126	D	0.000387	T	0.66509	0.2796	M	0.74467	2.265	0.37170	D	0.903001	P;D;P	0.53312	0.635;0.959;0.635	P;B;P	0.49477	0.612;0.412;0.461	T	0.75113	-0.3432	10	0.66056	D	0.02	-22.138	9.1754	0.37109	0.2169:0.783:0.0:0.0	.	550;531;384	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	T	531;384;542;542	ENSP00000442365:A531T;ENSP00000245925:A384T;ENSP00000382503:A542T	ENSP00000245925:A384T	A	-	1	0	EML2	50814262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.353000	0.66034	2.109000	0.64355	0.508000	0.49915	GCC		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	17	0	0	0	1	0	3	17				
AGTR2	186	broad.mit.edu	37	X	115304403	115304403	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:115304403C>T	ENST00000371906.4	+	3	1060	c.870C>T	c.(868-870)tgC>tgT	p.C290C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	290					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTAATAGCTGCGAAGTTATAG	0.483																																						ENST00000371906.4																			1	Substitution - coding silent(1)	p.C290C(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(868-870)tgC>tgT		angiotensin II receptor, type 2							263.0	202.0	223.0					X																	115304403		2203	4300	6503	SO:0001819	synonymous_variant	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304403C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.870C>T	X.37:g.115304403C>T							p.C290C	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	1060	+			290					B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	c.870C>T	CCDS14569.1																																																																																				0.483	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		19	27	0	0	0	1	0	19	27				
ABHD11	83451	broad.mit.edu	37	7	73150932	73150932	+	Missense_Mutation	SNP	C	C	T	rs374778806		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr7:73150932C>T	ENST00000222800.3	-	6	974	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H|ABHD11_ENST00000468998.1_5'Flank	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	302						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)				GTCCTGTGGGCGGTCAGCGTG	0.612																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(904-906)cGc>cAc		abhydrolase domain containing 11		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	103.0	105.0		884,905,734	0.2	0.0	7		105	0,8600		0,0,4300	no	missense,missense,missense	ABHD11	NM_148913.2,NM_148912.2,NM_001145364.1	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	295/309,302/316,245/259	73150932	1,13005	2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73150932C>T	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.905G>A	7.37:g.73150932C>T	ENSP00000222800:p.Arg302His					ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000395147.4_Missense_Mutation_p.R245H|ABHD11_ENST00000437775.2_Missense_Mutation_p.R295H	p.R302H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			6	974	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	302					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.905G>A	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629165	0.46944	2.27E-4	0.0	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66638	-0.22;-0.22;-0.22	4.82	0.238	0.15480	.	0.464706	0.20475	N	0.091606	T	0.64260	0.2582	L	0.50919	1.6	0.20764	N	0.999856	D;B	0.63880	0.993;0.334	P;B	0.52710	0.707;0.109	T	0.56774	-0.7923	10	0.72032	D	0.01	-1.6672	6.1777	0.20453	0.0:0.406:0.0:0.594	.	295;302	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	H	295;302;245	ENSP00000416970:R295H;ENSP00000222800:R302H;ENSP00000378579:R245H	ENSP00000222800:R302H	R	-	2	0	ABHD11	72788868	1.000000	0.71417	0.032000	0.17829	0.175000	0.22909	2.473000	0.45145	0.110000	0.17919	0.561000	0.74099	CGC		0.612	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			8	76	0	0	0	1	0	8	76				
GALNS	2588	broad.mit.edu	37	16	88901690	88901690	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:88901690C>T	ENST00000268695.5	-	8	917	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	GALNS_ENST00000542788.1_Missense_Mutation_p.V202I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	277	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TTGTCCGCGACGTGCAGGTCT	0.567																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(829-831)Gtc>Atc		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						148.0	105.0	119.0					16																	88901690		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88901690C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.829G>A	16.37:g.88901690C>T	ENSP00000268695:p.Val277Ile					GALNS_ENST00000542788.1_Missense_Mutation_p.V202I	p.V277I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	8	917	-			277					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.829G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605515	0.00842	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.93366	-3.21;-3.21	5.14	1.35	0.21983	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.142695	0.64402	N	0.000008	T	0.70228	0.3200	N	0.00408	-1.53	0.22591	N	0.998958	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.002	T	0.66484	-0.5912	10	0.06099	T	0.92	.	6.3738	0.21495	0.0:0.1437:0.1326:0.7237	.	277;277	B2R6P1;P34059	.;GALNS_HUMAN	I	277;202	ENSP00000268695:V277I;ENSP00000438197:V202I	ENSP00000268695:V277I	V	-	1	0	GALNS	87429191	0.591000	0.26824	0.002000	0.10522	0.000000	0.00434	0.851000	0.27751	-0.007000	0.14345	-1.669000	0.00746	GTC		0.567	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			10	22	0	0	0	1	0	10	22				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	39	0	0	0	1	0	4	39				
NDUFB10	4716	broad.mit.edu	37	16	2011190	2011190	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:2011190A>G	ENST00000268668.6	+	2	284	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Missense_Mutation_p.Y56C	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	56					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)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AACAGGTATTACTACTACCAC	0.493																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(166-168)tAc>tGc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						105.0	85.0	92.0					16																	2011190		2199	4300	6499	SO:0001583	missense	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011190A>G	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.167A>G	16.37:g.2011190A>G	ENSP00000268668:p.Tyr56Cys					NDUFB10_ENST00000268668.6_Missense_Mutation_p.Y56C|NDUFB10_ENST00000569148.1_Missense_Mutation_p.Y56C	p.Y56C			O96000	NDUBA_HUMAN			2	249	+			56					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.167A>G	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806649	0.50421	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	4.81	4.81	0.61882	.	0.123944	0.56097	D	0.000036	T	0.76292	0.3967	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.962	T	0.76305	-0.3008	9	0.38643	T	0.18	-14.5303	13.5721	0.61853	1.0:0.0:0.0:0.0	.	56;56	Q96II6;O96000	.;NDUBA_HUMAN	C	56	.	ENSP00000268668:Y56C	Y	+	2	0	NDUFB10	1951191	1.000000	0.71417	0.933000	0.37362	0.716000	0.41182	6.289000	0.72696	1.800000	0.52685	0.460000	0.39030	TAC		0.493	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		20	36	0	0	0	1	0	20	36				
MMP19	4327	broad.mit.edu	37	12	56231394	56231394	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:56231394G>C	ENST00000322569.4	-	8	1224	c.1133C>G	c.(1132-1134)cCt>cGt	p.P378R	MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Missense_Mutation_p.P92R	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	378					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	ATCCAGGTTAGGTTCTACCCT	0.463																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(274-276)cCt>cGt		matrix metallopeptidase 19							111.0	112.0	112.0					12																	56231394		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231394G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1133C>G	12.37:g.56231394G>C	ENSP00000313437:p.Pro378Arg					MMP19_ENST00000322569.4_Missense_Mutation_p.P378R|MMP19_ENST00000548629.1_Missense_Mutation_p.P355R|MMP19_ENST00000409200.3_Intron	p.P92R			Q99542	MMP19_HUMAN			3	274	-			378					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.275C>G	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248050	0.39697	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.07216	3.21;3.21;3.21	5.68	4.78	0.61160	Hemopexin/matrixin (2);	0.182760	0.47455	D	0.000225	T	0.10852	0.0265	L	0.37850	1.14	0.47094	D	0.999318	P;B	0.44776	0.843;0.274	P;B	0.47573	0.55;0.039	T	0.25916	-1.0118	10	0.16420	T	0.52	.	14.3264	0.66523	0.0:0.1497:0.8503:0.0	.	378;92	Q99542;Q99542-3	MMP19_HUMAN;.	R	92;378;355	ENSP00000377736:P92R;ENSP00000313437:P378R;ENSP00000446979:P355R	ENSP00000313437:P378R	P	-	2	0	MMP19	54517661	1.000000	0.71417	0.267000	0.24556	0.820000	0.46376	4.974000	0.63771	1.367000	0.46095	0.563000	0.77884	CCT		0.463	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		41	61	0	0	0	1	0	41	61				
ETF1	2107	broad.mit.edu	37	5	137853306	137853306	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137853306G>T	ENST00000360541.5	-	4	567	c.346C>A	c.(346-348)Cct>Act	p.P116T	ETF1_ENST00000499810.2_Missense_Mutation_p.P83T|ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000503014.1_Missense_Mutation_p.P102T	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	116					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)			GGTTTGAAAGGTTCAAAGTCA	0.363																																						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.(247-249)Cct>Act		eukaryotic translation termination factor 1							158.0	143.0	148.0					5																	137853306		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.chr5:137853306G>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.346C>A	5.37:g.137853306G>T	ENSP00000353741:p.Pro116Thr					ETF1_ENST00000503014.1_Missense_Mutation_p.P102T|ETF1_ENST00000360541.5_Missense_Mutation_p.P116T|ETF1_ENST00000514005.1_5'UTR	p.P83T			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	695	-			116					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.247C>A	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807067	0.90623	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.24	5.24	0.73138	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.098933	0.64402	D	0.000001	D	0.91686	0.7372	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95421	0.8507	9	0.87932	D	0	-5.4064	18.4198	0.90586	0.0:0.0:1.0:0.0	.	102;116	B7Z7P8;P62495	.;ERF1_HUMAN	T	83;116;102;83	.	ENSP00000353741:P116T	P	-	1	0	ETF1	137881205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.819000	0.99357	2.445000	0.82738	0.655000	0.94253	CCT		0.363	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		7	76	1	0	8.12818e-05	1	8.41173e-05	7	76				
UGT2B11	10720	broad.mit.edu	37	4	70080378	70080378	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:70080378C>T	ENST00000446444.1	-	1	71	c.63G>A	c.(61-63)ggG>ggA	p.G21G	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	21					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCCACAACTCCCAGAGCTAA	0.448																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(61-63)ggG>ggA		UDP glucuronosyltransferase 2 family, polypeptide B11							195.0	200.0	198.0					4																	70080378		2203	4300	6503	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080378C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.63G>A	4.37:g.70080378C>T						RP11-704M14.1_ENST00000505646.1_RNA	p.G21G	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	71	-			21					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.63G>A	CCDS3527.1																																																																																				0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		90	68	0	0	0	1	0	90	68				
ETV2	2116	broad.mit.edu	37	19	36134545	36134545	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:36134545G>A	ENST00000403402.1	+	4	911	c.605G>A	c.(604-606)gGc>gAc	p.G202D	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379026.2_Missense_Mutation_p.G230D|ETV2_ENST00000479824.1_Missense_Mutation_p.G109D			O00321	ETV2_HUMAN	ets variant 2	202					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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 RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATGCGGGTGGCACCACCTCT	0.677																																						ENST00000379026.2																			0				lung(2)	2						c.(688-690)gGc>gAc		ets variant 2							34.0	32.0	33.0					19																	36134545		2203	4300	6503	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134545G>A	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.605G>A	19.37:g.36134545G>A	ENSP00000385369:p.Gly202Asp					ETV2_ENST00000479824.1_Missense_Mutation_p.G109D|ETV2_ENST00000402764.2_Missense_Mutation_p.G202D|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Missense_Mutation_p.G202D	p.G230D			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	1128	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		202					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.689G>A	CCDS32995.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.466998|2.466998	0.43839|0.43839	.|.	.|.	ENSG00000105672|ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000403402|ENST00000379021	T;T;T|.	0.17691|.	2.26;2.27;2.27|.	5.35|5.35	1.9|1.9	0.25705|0.25705	.|.	3.383220|.	0.00639|.	N|.	0.000514|.	T|.	0.13030|.	0.0316|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39282|.	0.666;0.666;0.666|.	B;B;B|.	0.34489|.	0.139;0.184;0.184|.	T|.	0.33266|.	-0.9875|.	10|.	0.07990|0.02654	T|T	0.79|1	.|.	4.3787|4.3787	0.11283|0.11283	0.1878:0.0:0.6325:0.1797|0.1878:0.0:0.6325:0.1797	.|.	201;230;202|.	O00321;A6NFN5;B9EIN1|.	ETV2_HUMAN;.;.|.	D|X	230;202;202|151	ENSP00000368312:G230D;ENSP00000384524:G202D;ENSP00000385369:G202D|.	ENSP00000368312:G230D|ENSP00000368307:W151X	G|W	+|+	2|3	0|0	ETV2|ETV2	40826385|40826385	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.008000|0.008000	0.06430|0.06430	0.306000|0.306000	0.19279|0.19279	1.275000|1.275000	0.44379|0.44379	0.550000|0.550000	0.68814|0.68814	GGC|TGG		0.677	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		6	31	0	0	0	1	0	6	31				
NET1	10276	broad.mit.edu	37	10	5497027	5497027	+	Silent	SNP	C	C	A	rs113255666		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr10:5497027C>A	ENST00000355029.4	+	10	1285	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000380359.3_Silent_p.I327I	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	381					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ACCCCAGAATCGAAGCGAGCA	0.537																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1141-1143)atC>atA		neuroepithelial cell transforming 1							94.0	88.0	90.0					10																	5497027		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5497027C>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1143C>A	10.37:g.5497027C>A						NET1_ENST00000380359.3_Silent_p.I327I|NET1_ENST00000542715.1_Silent_p.I200I|NET1_ENST00000484741.1_3'UTR	p.I381I	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			10	1285	+			381					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1143C>A	CCDS41483.1																																																																																				0.537	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		14	69	1	0	7.93312e-07	1	8.40533e-07	14	69				
KCNJ16	3773	broad.mit.edu	37	17	68128440	68128440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:68128440G>A	ENST00000589377.1	+	2	375	c.212G>A	c.(211-213)cGc>cAc	p.R71H	KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R106H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	71					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCAAGTGGCGCCATATGTTT	0.403																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 16							272.0	237.0	249.0					17																	68128440		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128440G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.212G>A	17.37:g.68128440G>A	ENSP00000465967:p.Arg71His					KCNJ16_ENST00000586462.1_Missense_Mutation_p.R110H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R71H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R71H	p.R106H			Q9NPI9	IRK16_HUMAN			4	705	+	Breast(10;2.96e-09)		71						Missense_Mutation	SNP	ENST00000589377.1	37	c.317G>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610442	0.66558	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.95918	-3.85;-3.85;-3.85	6.16	5.2	0.72013	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.76838	2.35	0.58432	D	0.999993	P;D	0.89917	0.717;1.0	B;D	0.78314	0.135;0.991	D	0.97532	1.0080	9	.	.	.	.	15.2026	0.73153	0.0675:0.0:0.9325:0.0	.	71;71	A8K434;Q9NPI9	.;IRK16_HUMAN	H	71	ENSP00000283936:R71H;ENSP00000376439:R71H;ENSP00000376438:R71H	.	R	+	2	0	KCNJ16	65640035	1.000000	0.71417	0.998000	0.56505	0.322000	0.28314	9.771000	0.98977	1.632000	0.50472	-0.142000	0.14014	CGC		0.403	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		24	61	0	0	0	1	0	24	61				
PDXDC2P	283970	broad.mit.edu	37	16	70010624	70010624	+	RNA	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:70010624C>T	ENST00000531894.1	-	0	3759				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)										GCTCCGCTGCCGCCATTCTGA	0.512																																						ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(652-654)gcG>gcA																																								0							g.chr16:70010624C>T			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.70010624C>T						PDXDC2P_ENST00000531894.1_RNA	p.A218A							7	653	-								A8K9Z5	Silent	SNP	ENST00000531894.1	37	c.654G>A																																																																																					0.512	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			7	72	0	0	0	1	0	7	72				
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	rs200518644	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:61232706C>T	ENST00000269491.1	+	6	674	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.T245M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		20293	0.0		0.0	False		,,,				2504	0.002					ENST00000382768.1																			1	Substitution - Missense(1)	p.T225M(1)	lung(1)	kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(733-735)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 12							146.0	131.0	136.0					18																	61232706		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61232706C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.674C>T	18.37:g.61232706C>T	ENSP00000269491:p.Thr225Met					SERPINB12_ENST00000269491.1_Missense_Mutation_p.T225M	p.T245M			Q96P63	SPB12_HUMAN			6	734	+			225					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.734C>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	C	2.661	-0.279765	0.05642	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82803	-1.65;-1.65	5.35	0.44	0.16572	Serpin domain (3);	1.245950	0.05373	N	0.535732	T	0.69993	0.3173	N	0.21194	0.64	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.0	T	0.54456	-0.8291	10	0.42905	T	0.14	.	3.0124	0.06048	0.5129:0.1228:0.065:0.2993	.	245;225	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	225;245	ENSP00000269491:T225M;ENSP00000372218:T245M	ENSP00000269491:T225M	T	+	2	0	SERPINB12	59383686	0.007000	0.16637	0.031000	0.17742	0.015000	0.08874	0.748000	0.26305	0.131000	0.18576	-0.769000	0.03391	ACG		0.488	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		13	64	0	0	0	1	0	13	64				
PTCHD1	139411	broad.mit.edu	37	X	23397963	23397963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:23397963G>A	ENST00000379361.4	+	2	1467	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	203					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAAAGACCGGGTGAAATCTGC	0.532																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(607-609)Gtg>Atg		patched domain containing 1							140.0	129.0	133.0					X																	23397963		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397963G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.607G>A	X.37:g.23397963G>A	ENSP00000368666:p.Val203Met						p.V203M	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1467	+			203					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.607G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283555	0.80803	.	.	ENSG00000165186	ENST00000379361	D	0.86164	-2.08	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.92427	0.7596	M	0.64997	1.995	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.93198	0.6589	10	0.72032	D	0.01	.	17.4049	0.87470	0.0:0.0:1.0:0.0	.	98;203	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	M	203	ENSP00000368666:V203M	ENSP00000368666:V203M	V	+	1	0	PTCHD1	23307884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.941000	0.92964	2.381000	0.81170	0.600000	0.82982	GTG		0.532	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		15	31	0	0	0	1	0	15	31				
PDE4B	5142	broad.mit.edu	37	1	66384363	66384363	+	Silent	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:66384363G>C	ENST00000329654.4	+	3	313	c.126G>C	c.(124-126)ggG>ggC	p.G42G	PDE4B_ENST00000371049.3_Silent_p.G42G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	42					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TCTGGAGAGGGAGAAGGTGTT	0.468																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(124-126)ggG>ggC		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						90.0	86.0	87.0					1																	66384363		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384363G>C	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.126G>C	1.37:g.66384363G>C						PDE4B_ENST00000371049.3_Silent_p.G42G	p.G42G	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			3	313	+			42					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.126G>C	CCDS632.1																																																																																				0.468	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		3	43	0	0	0	1	0	3	43				
DOCK8	81704	broad.mit.edu	37	9	396793	396793	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:396793C>T	ENST00000453981.1	+	25	3091	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000432829.2_Silent_p.S925S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	993					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGTGAAAAGCATGGCCCAGC	0.468																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2773-2775)agC>agT		dedicator of cytokinesis 8							171.0	160.0	164.0					9																	396793		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396793C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2979C>T	9.37:g.396793C>T						DOCK8_ENST00000382329.1_Silent_p.S460S|DOCK8_ENST00000469391.1_Silent_p.S893S|DOCK8_ENST00000382331.1_Silent_p.S295S|DOCK8_ENST00000453981.1_Silent_p.S993S	p.S925S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3091	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	993					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.2775C>T	CCDS6440.2																																																																																				0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		14	108	0	0	0	1	0	14	108				
HCLS1	3059	broad.mit.edu	37	3	121350802	121350802	+	Missense_Mutation	SNP	G	G	A	rs201252242	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:121350802G>A	ENST00000314583.3	-	14	1443	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	451	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.P451L(1)		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)		TACGTCGTCCGGATCAAAGGA	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20337	0.0		0.001	False		,,,				2504	0.001					ENST00000314583.3																			1	Substitution - Missense(1)	p.P451L(1)	large_intestine(1)	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.(1351-1353)cCg>cTg		hematopoietic cell-specific Lyn substrate 1		G	LEU/PRO	0,4406		0,0,2203	159.0	156.0	157.0		1352	5.4	1.0	3		157	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	451/487	121350802	1,13005	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.chr3:121350802G>A		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.1352C>T	3.37:g.121350802G>A	ENSP00000320176:p.Pro451Leu					HCLS1_ENST00000428394.2_Missense_Mutation_p.P414L|HCLS1_ENST00000473883.1_5'UTR	p.P451L	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	14	1443	-			451			SH3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1352C>T	CCDS3003.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.136318	0.77662	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.30714	1.52;1.52	5.43	5.43	0.79202	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55927	-0.8063	10	0.87932	D	0	-9.199	16.7194	0.85406	0.0:0.0:1.0:0.0	.	414;451	E7EVW7;P14317	.;HCLS1_HUMAN	L	451;414	ENSP00000320176:P451L;ENSP00000387645:P414L	ENSP00000320176:P451L	P	-	2	0	HCLS1	122833492	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	9.386000	0.97228	2.549000	0.85964	0.563000	0.77884	CCG		0.488	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		10	146	0	0	0	1	0	10	146				
CRHBP	1393	broad.mit.edu	37	5	76251513	76251513	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:76251513C>T	ENST00000274368.4	+	4	791	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CRHBP_ENST00000506501.1_Silent_p.F123F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	123					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAGAAGTTCCCCAGTTCCC	0.453																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(367-369)ttC>ttT		corticotropin releasing hormone binding protein							74.0	71.0	72.0					5																	76251513		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76251513C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.369C>T	5.37:g.76251513C>T						CRHBP_ENST00000506501.1_Silent_p.F123F	p.F123F	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	4	791	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	123					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.369C>T	CCDS4034.1																																																																																				0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		3	30	0	0	0	1	0	3	30				
TEP1	7011	broad.mit.edu	37	14	20847208	20847208	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr14:20847208G>A	ENST00000262715.5	-	36	5224	c.5184C>T	c.(5182-5184)tcC>tcT	p.S1728S	TEP1_ENST00000545983.1_Silent_p.S66S|TEP1_ENST00000556935.1_Silent_p.S1620S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1728					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)		GTGTATCATCGGAGAGGAACA	0.557																																						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.(5182-5184)tcC>tcT		telomerase-associated protein 1							111.0	101.0	105.0					14																	20847208		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.chr14:20847208G>A		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.5184C>T	14.37:g.20847208G>A						TEP1_ENST00000556935.1_Silent_p.S1620S|TEP1_ENST00000545983.1_Silent_p.S66S	p.S1728S	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)	36	5224	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1728					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.5184C>T	CCDS9548.1																																																																																				0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		13	33	0	0	0	1	0	13	33				
FUNDC2P2	388965	broad.mit.edu	37	2	84517901	84517901	+	RNA	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:84517901G>A	ENST00000331369.5	+	0	95									FUN14 domain containing 2 pseudogene 2																		GCGTAACCTCGCAGATCCCCT	0.622																																						ENST00000331369.5																			0																																																			0							g.chr2:84517901G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517901G>A														0	95	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.622	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		8	7	0	0	0	1	0	8	7				
LOC81691	81691	broad.mit.edu	37	16	20838480	20838480	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr16:20838480G>C	ENST00000261377.6	+	9	1131	c.922G>C	c.(922-924)Gtg>Ctg	p.V308L	AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGCTGTGTTAGTGGGCCACTC	0.413																																						ENST00000261377.6																			0											c.(922-924)Gtg>Ctg									135.0	125.0	129.0					16																	20838480		2201	4300	6501	SO:0001583	missense	0							g.chr16:20838480G>C																												ENST00000261377.6:c.922G>C	16.37:g.20838480G>C	ENSP00000261377:p.Val308Leu					AC004381.6_ENST00000564274.1_Missense_Mutation_p.V308L|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.V308L	p.V308L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					9	1131	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.922G>C	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586897	0.86851	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.40476	1.03;1.03	4.99	4.99	0.66335	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.81682	2.555	0.58432	D	0.999998	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.981	T	0.71787	-0.4487	10	0.59425	D	0.04	-12.7812	17.038	0.86481	0.0:0.0:1.0:0.0	.	308;308	Q96IC2-2;Q96IC2	.;REXON_HUMAN	L	308	ENSP00000261378:V308L;ENSP00000261377:V308L	ENSP00000261377:V308L	V	+	1	0	AC004381.6	20745981	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.233000	0.78125	2.305000	0.77605	0.561000	0.74099	GTG		0.413	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			4	109	0	0	0	1	0	4	109				
UGT2B10	7365	broad.mit.edu	37	4	69696453	69696453	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:69696453C>T	ENST00000265403.7	+	6	1470	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N	UGT2B10_ENST00000458688.2_Silent_p.N397N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	481					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						CAGCCCACAACCTCACCTGGT	0.478																																					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.(1441-1443)aaC>aaT		UDP glucuronosyltransferase 2 family, polypeptide B10							194.0	182.0	186.0					4																	69696453		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696453C>T	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.1443C>T	4.37:g.69696453C>T						UGT2B10_ENST00000458688.2_Silent_p.N397N	p.N481N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			6	1470	+			481					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1443C>T																																																																																					0.478	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		40	115	0	0	0	1	0	40	115				
MOS	4342	broad.mit.edu	37	8	57026322	57026322	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:57026322C>A	ENST00000311923.1	-	1	219	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCTTGTACACCGAGCCAAAC	0.627																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(220-222)Gtg>Ttg		v-mos Moloney murine sarcoma viral oncogene homolog							92.0	81.0	85.0					8																	57026322		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026322C>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.220G>T	8.37:g.57026322C>A	ENSP00000310722:p.Val74Leu						p.V74L	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	219	-			74			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.220G>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615144	0.87359	.	.	ENSG00000172680	ENST00000311923	D	0.98264	-4.83	5.14	5.14	0.70334	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	0.99111	0.9694	M	0.89095	3.005	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.99643	1.0989	10	0.87932	D	0	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	74	P00540	MOS_HUMAN	L	74	ENSP00000310722:V74L	ENSP00000310722:V74L	V	-	1	0	MOS	57188876	1.000000	0.71417	0.976000	0.42696	0.698000	0.40448	7.697000	0.84279	2.387000	0.81309	0.557000	0.71058	GTG		0.627	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		12	117	1	0	9.05144e-12	1	9.94541e-12	12	117				
MASP1	5648	broad.mit.edu	37	3	186954108	186954108	+	Intron	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:186954108G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Silent_p.T404T|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Silent_p.T517T	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						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)		CCAGGTAGACGGTGACATGCT	0.582																																						ENST00000296280.6																			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.(1549-1551)acC>acT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							104.0	90.0	95.0					3																	186954108		2203	4300	6503	SO:0001627	intron_variant	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.chr3:186954108G>A	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.1303+5160C>T	3.37:g.186954108G>A						MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.T404T	p.T517T	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1776	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		515			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1551C>T	CCDS33907.1																																																																																				0.582	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		11	41	0	0	0	1	0	11	41				
ZNF492	57615	broad.mit.edu	37	19	22847907	22847907	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:22847907G>A	ENST00000456783.2	+	4	1680	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	479					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(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CCCTACAAGTGTGAAGAATGT	0.378																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1435-1437)tGt>tAt		zinc finger protein 492							27.0	39.0	35.0					19																	22847907		2038	4246	6284	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847907G>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1436G>A	19.37:g.22847907G>A	ENSP00000413660:p.Cys479Tyr						p.C479Y	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1680	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	479					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1436G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504168	0.26949	.	.	ENSG00000229676	ENST00000456783	D	0.85088	-1.94	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91064	0.7188	H	0.94964	3.605	0.09310	N	0.999999	B	0.30793	0.295	P	0.44990	0.466	D	0.85700	0.1312	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	479	Q9P255	ZN492_HUMAN	Y	479	ENSP00000413660:C479Y	ENSP00000413660:C479Y	C	+	2	0	ZNF492	22639747	1.000000	0.71417	0.321000	0.25320	0.329000	0.28539	6.289000	0.72696	0.269000	0.21961	0.274000	0.19336	TGT		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		5	64	0	0	0	1	0	5	64				
ZC3H13	23091	broad.mit.edu	37	13	46541978	46541978	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr13:46541978C>G	ENST00000242848.4	-	15	4330	c.3982G>C	c.(3982-3984)Gat>Cat	p.D1328H	ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1328							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		caatctttatcagcatctcgg	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3982-3984)Gat>Cat		zinc finger CCCH-type containing 13							317.0	211.0	247.0					13																	46541978		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46541978C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3982G>C	13.37:g.46541978C>G	ENSP00000242848:p.Asp1328His					ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1328H|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D284H	p.D1328H			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4330	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1328					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3982G>C		.	.	.	.	.	.	.	.	.	.	C	13.84	2.357555	0.41801	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35789	2.29;1.9;1.29	5.28	5.28	0.74379	.	0.354396	0.23395	N	0.048643	T	0.41789	0.1174	L	0.43152	1.355	0.46028	D	0.998823	P;P	0.52842	0.927;0.956	B;P	0.47603	0.348;0.551	T	0.38090	-0.9677	10	0.66056	D	0.02	.	18.5206	0.90951	0.0:1.0:0.0:0.0	.	1328;1328	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	1328;284;1328	ENSP00000242848:D1328H;ENSP00000368201:D284H;ENSP00000282007:D1328H	ENSP00000242848:D1328H	D	-	1	0	ZC3H13	45439979	1.000000	0.71417	0.535000	0.28026	0.346000	0.29079	6.325000	0.72901	2.461000	0.83175	0.591000	0.81541	GAT		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	50	0	0	0	1	0	5	50				
AP3B2	8120	broad.mit.edu	37	15	83350235	83350235	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:83350235G>A	ENST00000261722.3	-	5	665	c.458C>T	c.(457-459)gCc>gTc	p.A153V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	153					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCCGAGGCGGCTTCCTTGAT	0.582																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(457-459)gCc>gTc		adaptor-related protein complex 3, beta 2 subunit							109.0	111.0	111.0					15																	83350235		2084	4211	6295	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83350235G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.458C>T	15.37:g.83350235G>A	ENSP00000261722:p.Ala153Val					AP3B2_ENST00000535359.1_Missense_Mutation_p.A153V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.A121V	p.A153V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	665	-			153					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.458C>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774663	0.96922	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.055634	0.64402	D	0.000001	T	0.48429	0.1499	L	0.53249	1.67	0.80722	D	1	D;D;P	0.76494	0.999;0.97;0.88	D;P;P	0.83275	0.996;0.868;0.826	T	0.40098	-0.9581	10	0.52906	T	0.07	-10.025	18.6878	0.91571	0.0:0.0:1.0:0.0	.	121;153;153	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	153;121;153;109	ENSP00000261722:A153V;ENSP00000438721:A121V;ENSP00000440984:A153V;ENSP00000441961:A109V	ENSP00000261722:A153V	A	-	2	0	AP3B2	81147289	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	9.626000	0.98410	2.642000	0.89623	0.563000	0.77884	GCC		0.582	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	38	0	0	0	1	0	3	38				
UBE2S	27338	broad.mit.edu	37	19	55918270	55918270	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:55918270T>C	ENST00000264552.9	-	2	251	c.64A>G	c.(64-66)Aca>Gca	p.T22A	UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	22					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)		GCGGTCAGTGTCGTCACCTCC	0.597																																						ENST00000264552.9																			0				lung(1)	1						c.(64-66)Aca>Gca		ubiquitin-conjugating enzyme E2S							121.0	104.0	110.0					19																	55918270		2203	4298	6501	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.chr19:55918270T>C	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.64A>G	19.37:g.55918270T>C	ENSP00000264552:p.Thr22Ala					UBE2S_ENST00000589978.1_Missense_Mutation_p.T22A	p.T22A	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)	2	251	-	Breast(117;0.155)		22					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.64A>G	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489127	0.26686	.	.	ENSG00000108106	ENST00000264552	T	0.37411	1.2	3.66	3.66	0.41972	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.118222	0.56097	D	0.000021	T	0.15046	0.0363	N	0.02011	-0.69	0.23882	N	0.996577	B	0.02656	0.0	B	0.04013	0.001	T	0.18840	-1.0324	10	0.56958	D	0.05	-10.7094	10.5846	0.45275	0.0:0.0:0.0:1.0	.	22	Q16763	UBE2S_HUMAN	A	22	ENSP00000264552:T22A	ENSP00000264552:T22A	T	-	1	0	UBE2S	60610082	0.997000	0.39634	0.104000	0.21259	0.897000	0.52465	3.977000	0.56874	1.667000	0.50832	0.374000	0.22700	ACA		0.597	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		5	44	0	0	0	1	0	5	44				
NME5	8382	broad.mit.edu	37	5	137451449	137451449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr5:137451449C>T	ENST00000265191.2	-	6	609	c.560G>A	c.(559-561)tGg>tAg	p.W187*	RNU6-460P_ENST00000391158.1_RNA|snoU13_ENST00000459094.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	187					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCAGCTAGCCAAATCTATGG	0.294																																						ENST00000265191.2																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(559-561)tGg>tAg		NME/NM23 family member 5							51.0	60.0	57.0					5																	137451449		2203	4290	6493	SO:0001587	stop_gained	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137451449C>T	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.560G>A	5.37:g.137451449C>T	ENSP00000265191:p.Trp187*						p.W187*	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	609	-			187					B2R5G7	Nonsense_Mutation	SNP	ENST00000265191.2	37	c.560G>A	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996036	0.54147	.	.	ENSG00000112981	ENST00000265191	.	.	.	5.43	4.55	0.56014	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4734	0.75458	0.1398:0.8602:0.0:0.0	.	.	.	.	X	187	.	ENSP00000265191:W187X	W	-	2	0	NME5	137479348	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	5.846000	0.69444	1.252000	0.44001	0.455000	0.32223	TGG		0.294	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		4	19	0	0	0	1	0	4	19				
CD109	135228	broad.mit.edu	37	6	74440153	74440153	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:74440153C>T	ENST00000287097.5	+	4	475	c.363C>T	c.(361-363)cgC>cgT	p.R121R	CD109_ENST00000437994.2_Silent_p.R121R|CD109_ENST00000422508.2_Intron			Q6YHK3	CD109_HUMAN	CD109 molecule	121					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAGTACCCGCTTATCATTTG	0.418																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(361-363)cgC>cgT		CD109 molecule							131.0	127.0	128.0					6																	74440153		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74440153C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.363C>T	6.37:g.74440153C>T						CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.R121R	p.R121R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			4	794	+			121					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.363C>T	CCDS4982.1																																																																																				0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		10	61	0	0	0	1	0	10	61				
NHS	4810	broad.mit.edu	37	X	17739683	17739683	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:17739683G>A	ENST00000380060.3	+	4	1313	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NHS_ENST00000398097.3_Silent_p.P169P|NHS_ENST00000485305.1_3'UTR	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	346					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)					TACCTCTCCCGACGCCAGAGG	0.458																																						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.(973-975)ccG>ccA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							229.0	183.0	199.0					X																	17739683		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17739683G>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.975G>A	X.37:g.17739683G>A						NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P169P	p.P325P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			4	1313	+	Hepatocellular(33;0.183)		325					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.975G>A	CCDS14181.1																																																																																				0.458	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		4	70	0	0	0	1	0	4	70				
DSP	1832	broad.mit.edu	37	6	7580296	7580296	+	Silent	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr6:7580296G>A	ENST00000379802.3	+	23	4214	c.3873G>A	c.(3871-3873)ctG>ctA	p.L1291L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1291	Central fibrous rod domain.				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)		AGCAGCATCTGGAGATAGAAC	0.537																																						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.(3871-3873)ctG>ctA		desmoplakin							90.0	92.0	91.0					6																	7580296		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580296G>A	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.3873G>A	6.37:g.7580296G>A						DSP_ENST00000418664.2_Intron	p.L1291L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4214	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1291			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.3873G>A	CCDS4501.1																																																																																				0.537	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	96	0	0	0	1	0	4	96				
LAMA1	284217	broad.mit.edu	37	18	7034683	7034683	+	Nonsense_Mutation	SNP	C	C	A	rs146460281		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:7034683C>A	ENST00000389658.3	-	14	1939	c.1846G>T	c.(1846-1848)Gga>Tga	p.G616*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	616	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)				AAAGTGAGTCCGTTTCCCTAA	0.328																																						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.(1846-1848)Gga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	83.0	86.0					18																	7034683		2203	4300	6503	SO:0001587	stop_gained	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.chr18:7034683C>A	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.1846G>T	18.37:g.7034683C>A	ENSP00000374309:p.Gly616*						p.G616*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	1939	-		Colorectal(10;0.172)	616			Laminin IV type A 1.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.1846G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	39	7.572543	0.98365	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.9	5.03	0.67393	.	0.056144	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.9306	0.79656	0.0:0.8753:0.0:0.1247	.	.	.	.	X	616	.	ENSP00000374309:G616X	G	-	1	0	LAMA1	7024683	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	4.054000	0.57434	0.850000	0.35239	-0.797000	0.03246	GGA		0.328	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		6	48	1	0	0.0293803	1	0.0293803	6	48				
TRIM69	140691	broad.mit.edu	37	15	45059579	45059579	+	Missense_Mutation	SNP	G	G	A	rs202081848		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:45059579G>A	ENST00000559390.1	+	8	2040	c.1112G>A	c.(1111-1113)aGa>aAa	p.R371K	TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000558173.1_Missense_Mutation_p.R167K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	371	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTGGGCTCAAGAGGCTTCACC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19813	0.0		0.001	False		,,,				2504	0.0				Pancreas(84;519 1450 1802 20427 34706)	ENST00000558173.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(499-501)aGa>aAa		tripartite motif containing 69							130.0	133.0	132.0					15																	45059579		2198	4298	6496	SO:0001583	missense	0				apoptosis	nuclear speck	zinc ion binding	g.chr15:45059579G>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1112G>A	15.37:g.45059579G>A	ENSP00000453177:p.Arg371Lys					TRIM69_ENST00000558329.1_Missense_Mutation_p.R150K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R134K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R371K|TRIM69_ENST00000560442.1_Missense_Mutation_p.R167K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R212K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R371K	p.R167K			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	5	5245	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	371					A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.500G>A	CCDS32220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.64	1.700285	0.30142	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.09911	2.93;2.93	5.5	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.174648	0.39909	N	0.001229	T	0.05777	0.0151	N	0.11892	0.195	0.26856	N	0.968061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38200	-0.9672	10	0.19147	T	0.46	.	8.9844	0.35986	0.9098:0.0:0.0902:0.0	.	150;212;371	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	371;212	ENSP00000332284:R371K;ENSP00000342922:R212K	ENSP00000332284:R371K	R	+	2	0	TRIM69	42846871	0.879000	0.30193	0.996000	0.52242	0.746000	0.42486	2.954000	0.49113	0.934000	0.37316	-0.312000	0.09012	AGA		0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			15	83	0	0	0	1	0	15	83				
PRR19	284338	broad.mit.edu	37	19	42813821	42813821	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:42813821C>T	ENST00000499536.2	+	1	896	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C			A6NJB7	PRR19_HUMAN	proline rich 19	29										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TAGGCGGGAACGTAACAAGGC	0.602																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(85-87)Cgt>Tgt		proline rich 19																																				SO:0001583	missense	284338							g.chr19:42813821C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.85C>T	19.37:g.42813821C>T	ENSP00000445247:p.Arg29Cys					PRR19_ENST00000598490.1_Missense_Mutation_p.R29C|PRR19_ENST00000341747.3_Missense_Mutation_p.R29C	p.R29C			A6NJB7	PRR19_HUMAN			1	896	+		Prostate(69;0.00682)	29					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.85C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204934	0.38905	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.49	1.05	0.20165	.	0.000000	0.37715	N	0.001971	T	0.31606	0.0802	L	0.34521	1.04	0.42364	D	0.992428	B;P	0.36599	0.308;0.56	B;B	0.27262	0.067;0.078	T	0.09185	-1.0686	9	0.87932	D	0	3.204	5.1545	0.15027	0.3664:0.5353:0.0:0.0983	.	29;29	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	C	29	.	ENSP00000342709:R29C	R	+	1	0	PRR19	47505661	0.999000	0.42202	0.995000	0.50966	0.110000	0.19582	1.051000	0.30417	0.216000	0.20781	0.650000	0.86243	CGT		0.602	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		29	60	0	0	0	1	0	29	60				
PKP3	11187	broad.mit.edu	37	11	396954	396954	+	Silent	SNP	C	C	G			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:396954C>G	ENST00000331563.2	+	3	529	c.453C>G	c.(451-453)gcC>gcG	p.A151A	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	151					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)		ACGGGGGTGCCCAGCCCACCC	0.706																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-453)gcC>gcG		plakophilin 3							10.0	12.0	12.0					11																	396954		2161	4261	6422	SO:0001819	synonymous_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:396954C>G	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.453C>G	11.37:g.396954C>G						PKP3_ENST00000530695.1_3'UTR	p.A151A	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)	3	529	+		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)	151					F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	c.453C>G	CCDS7695.1																																																																																				0.706	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		13	11	0	0	0	1	0	13	11				
B3GNT3	10331	broad.mit.edu	37	19	17919012	17919012	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:17919012C>T	ENST00000318683.6	+	2	543	c.396C>T	c.(394-396)cgC>cgT	p.R132R	B3GNT3_ENST00000595387.1_Silent_p.R132R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	132					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						CGTGGGGCCGCGAGCGCAAGG	0.682																																						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.(394-396)cgC>cgT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							22.0	24.0	24.0					19																	17919012		2202	4297	6499	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919012C>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.396C>T	19.37:g.17919012C>T						B3GNT3_ENST00000595387.1_Silent_p.R132R	p.R132R	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	543	+			132					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.396C>T	CCDS12364.1																																																																																				0.682	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		7	32	0	0	0	1	0	7	32				
ZNFX1	57169	broad.mit.edu	37	20	47879947	47879947	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr20:47879947C>T	ENST00000396105.1	-	6	2471	c.2225G>A	c.(2224-2226)gGt>gAt	p.G742D	ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D|ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	742							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)			CCGTAGGACACCACGCATGGT	0.522																																						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.(2224-2226)gGt>gAt		zinc finger, NFX1-type containing 1							144.0	97.0	113.0					20																	47879947		2203	4299	6502	SO:0001583	missense	57169						metal ion binding	g.chr20:47879947C>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.2225G>A	20.37:g.47879947C>T	ENSP00000379412:p.Gly742Asp					ZNFX1_ENST00000371754.4_Missense_Mutation_p.G742D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G742D	p.G742D	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)		6	2471	-			742					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2225G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.631629	0.87660	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87179	-2.0;-2.22;-2.22;-0.97;-1.67	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91334	0.5092	10	0.33141	T	0.24	-15.5883	18.6827	0.91553	0.0:1.0:0.0:0.0	.	742	Q9P2E3	ZNFX1_HUMAN	D	742;742;742;742;742;546	ENSP00000360819:G742D;ENSP00000360817:G742D;ENSP00000379412:G742D;ENSP00000360809:G742D;ENSP00000413800:G546D	ENSP00000360809:G742D	G	-	2	0	ZNFX1	47313354	1.000000	0.71417	0.183000	0.23137	0.753000	0.42808	7.187000	0.77730	2.766000	0.95052	0.651000	0.88453	GGT		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	20	0	0	0	1	0	4	20				
NOTCH3	4854	broad.mit.edu	37	19	15300085	15300085	+	Splice_Site	SNP	G	G	A	rs144214159		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:15300085G>A	ENST00000263388.2	-	7	1266	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	397	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCCCTCACCGATAGAGCACT	0.637																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.e7+1		notch 3		G		0,4406		0,0,2203	80.0	78.0	78.0		1191	-4.5	1.0	19	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	NOTCH3	NM_000435.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		397/2322	15300085	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15300085G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1192+1C>T	19.37:g.15300085G>A							p.I397_splice	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		7	1266	-			397			EGF-like 10; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37	c.1192_splice	CCDS12326.1																																																																																				0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Silent	31	37	0	0	0	1	0	31	37				
KRT31	3881	broad.mit.edu	37	17	39551746	39551746	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:39551746G>A	ENST00000251645.2	-	4	770	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACTTCCCTGCGGTTGGTTTCC	0.627																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(718-720)Cgc>Tgc		keratin 31							109.0	99.0	102.0					17																	39551746		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551746G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.718C>T	17.37:g.39551746G>A	ENSP00000251645:p.Arg240Cys						p.R240C	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	770	-		Breast(137;0.000496)	240			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.718C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	17.86	3.492403	0.64074	.	.	ENSG00000094796	ENST00000251645	D	0.90197	-2.63	5.4	4.44	0.53790	Filament (1);	0.000000	0.64402	D	0.000006	D	0.96204	0.8762	H	0.96547	3.84	0.43308	D	0.995314	D	0.89917	1.0	D	0.97110	1.0	D	0.95642	0.8699	10	0.87932	D	0	.	7.8267	0.29320	0.0767:0.0:0.6543:0.269	.	240	Q15323	K1H1_HUMAN	C	240	ENSP00000251645:R240C	ENSP00000251645:R240C	R	-	1	0	KRT31	36805272	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.775000	0.47702	1.275000	0.44379	-0.253000	0.11424	CGC		0.627	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		8	62	0	0	0	1	0	8	62				
MXRA5	25878	broad.mit.edu	37	X	3229596	3229596	+	Silent	SNP	G	G	A	rs187308634		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chrX:3229596G>A	ENST00000217939.6	-	7	6802	c.6648C>T	c.(6646-6648)gcC>gcT	p.A2216A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2216	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)		p.A2216>?(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTAATCTCCGGCATCTTTGT	0.453													g|||	1	0.000264901	0.0008	0.0	3775	,	,		15615	0.0		0.0	False		,,,				2504	0.0					ENST00000217939.6																			2	Complex(2)	p.A2216>?(2)	lung(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6646-6648)gcC>gcT		matrix-remodelling associated 5		G		0,3835		0,0,1632,571	75.0	69.0	71.0		6648	-7.6	0.0	X		71	1,6727		0,1,2427,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		2216/2829	3229596	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229596G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6648C>T	X.37:g.3229596G>A							p.A2216A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	6802	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2216			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6648C>T	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		75	20	0	0	0	1	0	75	20				
SEMA4C	54910	broad.mit.edu	37	2	97527357	97527357	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:97527357G>C	ENST00000305476.5	-	14	1763	c.1631C>G	c.(1630-1632)tCg>tGg	p.S544W		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	544	PSI.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TGAAGTGTCCGAGGTCATCAC	0.562																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1630-1632)tCg>tGg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							174.0	170.0	171.0					2																	97527357		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527357G>C	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1631C>G	2.37:g.97527357G>C	ENSP00000306844:p.Ser544Trp						p.S544W	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			14	1763	-			544			PSI.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1631C>G	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244945	0.22796	.	.	ENSG00000168758	ENST00000305476	T	0.24350	1.86	4.91	2.95	0.34219	.	1.502310	0.04082	N	0.309830	T	0.44074	0.1276	L	0.58101	1.795	0.23421	N	0.997716	D;D;D	0.71674	0.965;0.975;0.998	P;P;P	0.61800	0.611;0.759;0.894	T	0.05835	-1.0861	10	0.87932	D	0	.	5.5745	0.17215	0.2989:0.0:0.7011:0.0	.	544;254;44	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	W	544	ENSP00000306844:S544W	ENSP00000306844:S544W	S	-	2	0	SEMA4C	96891084	0.013000	0.17824	0.024000	0.17045	0.076000	0.17211	1.202000	0.32271	0.526000	0.28541	-0.137000	0.14449	TCG		0.562	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		30	72	0	0	0	1	0	30	72				
CHD3	1107	broad.mit.edu	37	17	7802839	7802839	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7802839G>T	ENST00000330494.7	+	15	2672	c.2522G>T	c.(2521-2523)gGc>gTc	p.G841V	CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000380358.4_Missense_Mutation_p.G900V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	841	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCAAAGGGGGCAAGAAAGCT	0.463																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2698-2700)gGc>gTc		chromodomain helicase DNA binding protein 3							91.0	90.0	91.0					17																	7802839		2203	4300	6503	SO:0001583	missense	1107				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|protein binding|zinc ion binding	g.chr17:7802839G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2522G>T	17.37:g.7802839G>T	ENSP00000332628:p.Gly841Val					CHD3_ENST00000358181.4_Missense_Mutation_p.G841V|CHD3_ENST00000330494.7_Missense_Mutation_p.G841V	p.G900V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			15	2700	+		Prostate(122;0.202)	841			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2699G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142773	0.57044	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93547	-3.24;-3.24;-3.24	5.1	5.1	0.69264	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47093	D	0.000241	D	0.97071	0.9043	M	0.85542	2.76	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	0.97373	0.9977	10	0.87932	D	0	-20.6111	19.0554	0.93062	0.0:0.0:1.0:0.0	.	841;841;900	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	900;841;841	ENSP00000369716:G900V;ENSP00000350907:G841V;ENSP00000332628:G841V	ENSP00000332628:G841V	G	+	2	0	CHD3	7743564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	GGC		0.463	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		15	66	1	0	2.32078e-09	1	2.48855e-09	15	66				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	124	0	0	0	1	0	4	124				
NUP188	23511	broad.mit.edu	37	9	131743608	131743608	+	Silent	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:131743608G>T	ENST00000372577.2	+	15	1476	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	485					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCATGATGTGATCTCCCATG	0.398																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1453-1455)gtG>gtT		nucleoporin 188kDa							178.0	179.0	179.0					9																	131743608		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131743608G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1455G>T	9.37:g.131743608G>T							p.V485V	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			15	1476	+			485					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.1455G>T	CCDS35156.1																																																																																				0.398	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	153	1	0	2.56e-06	1	2.68047e-06	4	153				
TTN	7273	broad.mit.edu	37	2	179414986	179414986	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:179414986C>T	ENST00000591111.1	-	287	86880	c.86656G>A	c.(86656-86658)Gag>Aag	p.E28886K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E30527K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28886	Ig-like 133.				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)			GGGCCAAACTCTACTATTGGT	0.348																																						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.(91579-91581)Gag>Aag		titin							59.0	57.0	58.0					2																	179414986		1813	4083	5896	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414986C>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.86656G>A	2.37:g.179414986C>T	ENSP00000465570:p.Glu28886Lys					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27959K|TTN_ENST00000342175.6_Missense_Mutation_p.E21654K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28886K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21587K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21462K	p.E30527K	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)		337	91803	-			28886			Fibronectin type-III 122.		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.91579G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250222	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.25;0.23;0.21	5.74	5.74	0.90152	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71995	0.3406	L	0.31294	0.92	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	T	0.73799	-0.3869	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	21462;21587;21654;28886	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	27959;21462;21654;21587;21459	ENSP00000343764:E27959K;ENSP00000434586:E21462K;ENSP00000340554:E21654K;ENSP00000352154:E21587K	ENSP00000340554:E21654K	E	-	1	0	TTN	179123232	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.572000	0.82409	2.873000	0.98535	0.563000	0.77884	GAG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	56	0	0	0	1	0	5	56				
FBXO28	23219	broad.mit.edu	37	1	224318220	224318220	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:224318220G>A	ENST00000366862.5	+	2	357	c.314G>A	c.(313-315)gGa>gAa	p.G105E	FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	105	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TTGAATCAGGGATTTCTGAAA	0.373																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(313-315)gGa>gAa		F-box protein 28							158.0	148.0	151.0					1																	224318220		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224318220G>A	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.314G>A	1.37:g.224318220G>A	ENSP00000355827:p.Gly105Glu					FBXO28_ENST00000424254.2_Missense_Mutation_p.G105E	p.G105E	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	2	357	+	Breast(184;0.206)		105			F-box.		E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.314G>A	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877019	0.91664	.	.	ENSG00000143756	ENST00000366862;ENST00000424254	.	.	.	5.54	5.54	0.83059	F-box domain, cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.79470	0.4451	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81088	-0.1091	9	0.87932	D	0	-19.6412	16.9971	0.86370	0.0:0.0:1.0:0.0	.	105;105	E9PEM8;Q9NVF7	.;FBX28_HUMAN	E	105	.	ENSP00000355827:G105E	G	+	2	0	FBXO28	222384843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.170000	0.94795	2.764000	0.94973	0.655000	0.94253	GGA		0.373	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		4	46	0	0	0	1	0	4	46				
PROS1	5627	broad.mit.edu	37	3	93605197	93605197	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:93605197T>A	ENST00000394236.3	-	11	1622	c.1306A>T	c.(1306-1308)Agt>Tgt	p.S436C	PROS1_ENST00000407433.1_Missense_Mutation_p.S305C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	436	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGAGTTCACTTTCCACTTTC	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CI051367	PROS1	I		c.(1306-1308)Agt>Tgt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						108.0	114.0	112.0					3																	93605197		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93605197T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1306A>T	3.37:g.93605197T>A	ENSP00000377783:p.Ser436Cys					PROS1_ENST00000407433.1_Missense_Mutation_p.S305C	p.S436C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			11	1622	-			436			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1306A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	9.874	1.199675	0.22121	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77098	-1.07;-1.07	3.54	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.312031	0.32593	N	0.005900	T	0.79209	0.4407	M	0.64404	1.975	0.09310	N	1	D	0.54772	0.968	P	0.54499	0.754	T	0.69694	-0.5076	10	0.66056	D	0.02	.	6.9182	0.24371	0.0:0.2213:0.0:0.7787	.	436	P07225	PROS_HUMAN	C	436;305	ENSP00000377783:S436C;ENSP00000385794:S305C	ENSP00000377783:S436C	S	-	1	0	PROS1	95087887	0.628000	0.27138	0.056000	0.19401	0.014000	0.08584	2.221000	0.42917	0.445000	0.26639	0.533000	0.62120	AGT		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		15	110	0	0	0	1	0	15	110				
HPS3	84343	broad.mit.edu	37	3	148857949	148857949	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr3:148857949T>C	ENST00000296051.2	+	2	516	c.376T>C	c.(376-378)Tac>Cac	p.Y126H	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	126					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGACCAGATGTACATTATTGA	0.448									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(376-378)Tac>Cac		Hermansky-Pudlak syndrome 3							143.0	142.0	142.0					3																	148857949		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857949T>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.376T>C	3.37:g.148857949T>C	ENSP00000296051:p.Tyr126His					HPS3_ENST00000460120.1_Intron	p.Y126H	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	516	+			126					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.376T>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751833	0.49362	.	.	ENSG00000163755	ENST00000296051	T	0.62639	0.01	5.67	5.67	0.87782	.	0.262657	0.39274	N	0.001416	T	0.41373	0.1156	N	0.08118	0	0.80722	D	1	B	0.32203	0.36	B	0.33750	0.169	T	0.40040	-0.9584	10	0.21540	T	0.41	-9.5504	12.0977	0.53765	0.0:0.0:0.1433:0.8567	.	126	Q969F9	HPS3_HUMAN	H	126	ENSP00000296051:Y126H	ENSP00000296051:Y126H	Y	+	1	0	HPS3	150340639	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	5.428000	0.66489	2.285000	0.76669	0.477000	0.44152	TAC		0.448	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		22	125	0	0	0	1	0	22	125				
ASCC2	84164	broad.mit.edu	37	22	30202490	30202490	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr22:30202490A>C	ENST00000397771.2	-	12	1246	c.1069T>G	c.(1069-1071)Ttg>Gtg	p.L357V	ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000478812.1_5'UTR			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	357					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)			TCCTGCAGCAAGGAGCTGAAG	0.547																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1069-1071)Ttg>Gtg		activating signal cointegrator 1 complex subunit 2							69.0	59.0	62.0					22																	30202490		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30202490A>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.1069T>G	22.37:g.30202490A>C	ENSP00000380877:p.Leu357Val					ASCC2_ENST00000307790.3_Missense_Mutation_p.L357V|ASCC2_ENST00000542393.1_Missense_Mutation_p.L281V|ASCC2_ENST00000478812.1_5'UTR	p.L357V			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		12	1246	-			357					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1069T>G	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.234837	0.22626	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08546	3.08;3.08;3.12	5.09	0.405	0.16361	.	0.190029	0.46442	N	0.000286	T	0.03827	0.0108	N	0.12182	0.205	0.28247	N	0.925426	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.005	T	0.38779	-0.9645	10	0.24483	T	0.36	-5.2751	6.3347	0.21289	0.4883:0.3531:0.1585:0.0	.	281;357	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	V	357;357;281	ENSP00000305502:L357V;ENSP00000380877:L357V;ENSP00000437570:L281V	ENSP00000305502:L357V	L	-	1	2	ASCC2	28532490	0.201000	0.23410	0.998000	0.56505	0.994000	0.84299	0.446000	0.21694	0.399000	0.25367	-0.313000	0.08912	TTG		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		28	22	0	0	0	1	0	28	22				
CYFIP1	23191	broad.mit.edu	37	15	22929856	22929856	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:22929856T>C	ENST00000313077.7	+	6	655	c.530T>C	c.(529-531)aTg>aCg	p.M177T	CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T	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)		CTGAAGAACATGAAGTGCAGT	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.(529-531)aTg>aCg		cytoplasmic FMR1 interacting protein 1							133.0	100.0	111.0					15																	22929856		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.chr15:22929856T>C	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.530T>C	15.37:g.22929856T>C	ENSP00000324549:p.Met177Thr					CYFIP1_ENST00000560848.1_Missense_Mutation_p.M177T	p.M177T	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	655	+		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)	177						Missense_Mutation	SNP	ENST00000313077.7	37	c.530T>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410545	0.62399	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.74546	2.27	0.80722	D	1	P;B	0.45827	0.867;0.015	P;B	0.55112	0.769;0.036	T	0.58994	-0.7537	10	0.37606	T	0.19	-36.1377	14.8487	0.70281	0.0:0.0:0.0:1.0	.	205;177	E7EQ04;Q7L576	.;CYFP1_HUMAN	T	177;205	ENSP00000324549:M177T	ENSP00000324549:M177T	M	+	2	0	CYFIP1	20481297	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.873000	0.87193	1.974000	0.57490	0.459000	0.35465	ATG		0.577	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	44	0	0	0	1	0	7	44				
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																						ENST00000412962.1																			4	Substitution - coding silent(4)	p.H56H(4)	prostate(3)|endometrium(1)																																																0							g.chr1:16959698G>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.16959698G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.657	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	23	0	0	0	1	0	5	23				
HMCN1	83872	broad.mit.edu	37	1	185902932	185902932	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr1:185902932G>A	ENST00000271588.4	+	11	2033	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	602	Ig-like C2-type 2.				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						ATCATCAGCCGCTTCAGTTTT	0.403																																						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.(1804-1806)Gct>Act		hemicentin 1							144.0	142.0	143.0					1																	185902932		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902932G>A	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.1804G>A	1.37:g.185902932G>A	ENSP00000271588:p.Ala602Thr					HMCN1_ENST00000367492.2_Missense_Mutation_p.A602T	p.A602T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			11	2033	+			602			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1804G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514036	0.64522	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.67	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.236290	0.42053	D	0.000765	T	0.62877	0.2464	L	0.60455	1.87	0.44337	D	0.997226	P	0.42248	0.774	B	0.40199	0.322	T	0.62334	-0.6876	10	0.29301	T	0.29	.	14.6879	0.69062	0.0713:0.0:0.9287:0.0	.	602	Q96RW7	HMCN1_HUMAN	T	602	ENSP00000271588:A602T;ENSP00000356462:A602T	ENSP00000271588:A602T	A	+	1	0	HMCN1	184169555	0.987000	0.35691	0.176000	0.23000	0.310000	0.27922	4.855000	0.62925	2.677000	0.91161	0.655000	0.94253	GCT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	78	0	0	0	1	0	17	78				
BRWD1	54014	broad.mit.edu	37	21	40584626	40584626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr21:40584626C>A	ENST00000333229.2	-	34	4193	c.3866G>T	c.(3865-3867)aGt>aTt	p.S1289I	BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I|BRWD1_ENST00000342449.3_Missense_Mutation_p.S1289I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1289					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)				AGGAAGATCACTATCATCCTA	0.294																																					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.(3865-3867)aGt>aTt		bromodomain and WD repeat domain containing 1							77.0	82.0	80.0					21																	40584626		2203	4296	6499	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40584626C>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.3866G>T	21.37:g.40584626C>A	ENSP00000330753:p.Ser1289Ile					BRWD1_ENST00000333229.2_Missense_Mutation_p.S1289I|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1289I	p.S1289I	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			34	3944	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1289					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3866G>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.35|12.35	1.912174|1.912174	0.33721|0.33721	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.58506|.	0.33;0.36;0.43|.	5.47|5.47	3.63|3.63	0.41609|0.41609	Bromodomain (1);|.	0.515945|.	0.20890|.	N|.	0.083854|.	T|.	0.64327|.	0.2588|.	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	B;B;P|.	0.50943|.	0.203;0.082;0.94|.	B;B;P|.	0.47470|.	0.099;0.087;0.548|.	T|.	0.63545|.	-0.6613|.	10|.	0.33141|.	T|.	0.24|.	-8.1471|-8.1471	8.8663|8.8663	0.35289|0.35289	0.0:0.8172:0.0:0.1828|0.0:0.8172:0.0:0.1828	.|.	1289;1289;1289|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	I|Y	1289;1289;1289;293|274	ENSP00000330753:S1289I;ENSP00000344333:S1289I;ENSP00000370178:S1289I|.	ENSP00000330753:S1289I|.	S|X	-|-	2|3	0|2	BRWD1|BRWD1	39506496|39506496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.939000|0.939000	0.28978|0.28978	1.439000|1.439000	0.47511|0.47511	0.655000|0.655000	0.94253|0.94253	AGT|TAG		0.294	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		12	49	1	0	0.000151284	1	0.000154762	12	49				
OR4C16	219428	broad.mit.edu	37	11	55340437	55340437	+	Silent	SNP	T	T	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:55340437T>A	ENST00000314634.3	+	1	834	c.834T>A	c.(832-834)tcT>tcA	p.S278S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	278						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)|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)				TTGGAACATCTTTTCTCAACC	0.378																																						ENST00000314634.3																			0				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.(832-834)tcT>tcA		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							91.0	83.0	86.0					11																	55340437		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340437T>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.834T>A	11.37:g.55340437T>A							p.S278S	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	834	+		all_epithelial(135;0.0748)	278					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.834T>A	CCDS31502.1																																																																																				0.378	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		10	65	0	0	0	1	0	10	65				
CHRDL2	25884	broad.mit.edu	37	11	74424521	74424521	+	Missense_Mutation	SNP	C	C	T	rs200485801		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr11:74424521C>T	ENST00000376332.3	-	3	695	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCACATGGGCGCCCTGAAGG	0.582																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(199-201)Gcc>Acc		chordin-like 2		C	THR/ALA	0,4400		0,0,2200	89.0	81.0	84.0		199	3.2	1.0	11		84	2,8584	2.2+/-6.3	0,2,4291	yes	missense	CHRDL2	NM_015424.3	58	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	benign	67/452	74424521	2,12984	2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74424521C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.199G>A	11.37:g.74424521C>T	ENSP00000365510:p.Ala67Thr					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A67T	p.A67T	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			3	695	-	Hepatocellular(1;0.098)		67			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.199G>A		.	.	.	.	.	.	.	.	.	.	C	16.20	3.055067	0.55325	0.0	2.33E-4	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.72394	-0.65;-0.65;-0.65	5.12	3.18	0.36537	von Willebrand factor, type C (4);	0.220328	0.37053	N	0.002268	T	0.40297	0.1111	N	0.05124	-0.11	0.26526	N	0.97434	B;B;P	0.35780	0.094;0.262;0.52	B;B;B	0.29785	0.025;0.107;0.079	T	0.30504	-0.9976	10	0.12103	T	0.63	-9.9366	8.2585	0.31771	0.0:0.7501:0.1614:0.0885	.	67;67;67	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	T	67	ENSP00000263671:A67T;ENSP00000365510:A67T;ENSP00000431380:A67T	ENSP00000263671:A67T	A	-	1	0	CHRDL2	74102169	0.901000	0.30685	0.980000	0.43619	0.900000	0.52787	1.653000	0.37323	1.254000	0.44035	0.563000	0.77884	GCC		0.582	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			5	34	0	0	0	1	0	5	34				
LINGO2	158038	broad.mit.edu	37	9	27948936	27948936	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr9:27948936G>T	ENST00000379992.2	-	6	2183	c.1734C>A	c.(1732-1734)gaC>gaA	p.D578E	LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	578						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACTCAAGGTCAATGCTGT	0.478																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1732-1734)gaC>gaA		leucine rich repeat and Ig domain containing 2							117.0	103.0	107.0					9																	27948936		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948936G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1734C>A	9.37:g.27948936G>T	ENSP00000369328:p.Asp578Glu					LINGO2_ENST00000308675.3_Missense_Mutation_p.D578E	p.D578E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2183	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	578					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1734C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477910	0.01035	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.55052	0.54;0.54	5.83	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	N	0.16368	0.405	0.52099	D	0.999949	B	0.17268	0.021	B	0.16289	0.015	T	0.12293	-1.0553	9	.	.	.	.	10.5345	0.44996	0.1429:0.0:0.8571:0.0	.	578	Q7L985	LIGO2_HUMAN	E	578	ENSP00000369328:D578E;ENSP00000310126:D578E	.	D	-	3	2	LINGO2	27938936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.010000	0.49559	2.769000	0.95229	0.655000	0.94253	GAC		0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		15	63	1	0	1.05317e-09	1	1.14308e-09	15	63				
CAD	790	broad.mit.edu	37	2	27455407	27455407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr2:27455407C>T	ENST00000403525.1	+	17	2692	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Nonsense_Mutation_p.Q913*			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCCAGCCCAGACAAATTA	0.522																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2737-2739)Cag>Tag		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						139.0	97.0	112.0					2																	27455407		2203	4300	6503	SO:0001587	stop_gained	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27455407C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2548C>T	2.37:g.27455407C>T	ENSP00000384510:p.Gln850*					CAD_ENST00000403525.1_Nonsense_Mutation_p.Q850*|CAD_ENST00000464159.1_3'UTR	p.Q913*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			18	2899	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		913			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000403525.1	37	c.2737C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.399308	0.98258	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.37	5.37	0.77165	.	0.220636	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.8088	17.8357	0.88696	0.0:1.0:0.0:0.0	.	.	.	.	X	913;850	.	ENSP00000264705:Q913X	Q	+	1	0	CAD	27308911	0.978000	0.34361	1.000000	0.80357	0.627000	0.37826	2.435000	0.44811	2.797000	0.96272	0.650000	0.86243	CAG		0.522	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			31	38	0	0	0	1	0	31	38				
MUC16	94025	broad.mit.edu	37	19	9063011	9063011	+	Silent	SNP	C	C	T			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:9063011C>T	ENST00000397910.4	-	3	24638	c.24435G>A	c.(24433-24435)gtG>gtA	p.V8145V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8147	Ser-rich.|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						CACCAGTGGGCACTCCAGAAA	0.542																																						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.(24433-24435)gtG>gtA		mucin 16, cell surface associated							119.0	116.0	117.0					19																	9063011		2024	4186	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063011C>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.24435G>A	19.37:g.9063011C>T							p.V8145V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24638	-			8147			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24435G>A	CCDS54212.1																																																																																				0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	79	0	0	0	1	0	12	79				
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	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		8	199						8	199	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	217874	217874	+	RNA	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr4:217874delG	ENST00000356347.3	+	0	172				AC079140.1_ENST00000516807.1_RNA	NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ggctgcttcagggagcacagc	0.537																																						ENST00000356347.3																			0																																																			0							g.chr4:217874delG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.217874delG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.537	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		7	30						7	30	---	---	---	---
HGSNAT	138050	broad.mit.edu	37	8	43025733	43025733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:43025733delG	ENST00000458501.2	+	7	723	c.723delG	c.(721-723)ctgfs	p.L241fs	HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	241					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAAGGAGCTGGGATCTCCCA	0.473																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(721-723)ctfs		heparan-alpha-glucosaminide N-acetyltransferase							45.0	44.0	45.0					8																	43025733		1928	4138	6066	SO:0001589	frameshift_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43025733delG		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.723delG	8.37:g.43025733delG	ENSP00000389524:p.Leu241fs					HGSNAT_ENST00000379644.4_Frame_Shift_Del_p.L213fs	p.L241fs			Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	723	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	241					B4E2V0	Frame_Shift_Del	DEL	ENST00000458501.2	37	c.723delG																																																																																					0.473	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		2	4						2	4	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61693702	61693703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr8:61693702_61693703insA	ENST00000423902.2	+	3	2288_2289	c.1809_1810insA	c.(1810-1812)aacfs	p.N604fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.N604fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	604	Lys-rich.				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)	p.556_871dup(1)		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)			AAAAGAAAAACAACCACATTGT	0.431																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	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.(1807-1812)aaaccafs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	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.chr8:61693702_61693703insA	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.1811dupA	8.37:g.61693704_61693704dupA	ENSP00000392028:p.Asn604fs					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Ins_p.P604fs	p.P604fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2288_2289	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	604			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.1809_1810insA	CCDS47865.1																																																																																				0.431	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	6						6	6	---	---	---	---
EID3	493861	broad.mit.edu	37	12	104697887	104697887	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr12:104697887delG	ENST00000527879.1	+	1	371	c.175delG	c.(175-177)gtgfs	p.V59fs	TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000429002.2_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGGACATCGTGAGCTCGGC	0.617																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(175-177)tgfs		EP300 interacting inhibitor of differentiation 3							47.0	53.0	51.0					12																	104697887		2065	4189	6254	SO:0001589	frameshift_variant	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697887delG	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.175delG	12.37:g.104697887delG	ENSP00000435619:p.Val59fs					TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000354940.6_Intron	p.V59fs	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	371	+			59						Frame_Shift_Del	DEL	ENST00000527879.1	37	c.175delG	CCDS53822.1																																																																																				0.617	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		12	52						12	52	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			2	4						2	4	---	---	---	---
RP11-26F2.1	0	broad.mit.edu	37	15	23131706	23131706	+	RNA	DEL	A	A	-	rs144278477	byFrequency	TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr15:23131706delA	ENST00000560053.1	-	0	129																											GATATTCTCCAATGTCATTTT	0.259													|||unknown(ALL_OTHER_Ns)	825	0.164736	0.3124	0.2651	5008	,	,		14054	0.0149		0.1382	False		,,,				2504	0.0757					ENST00000560053.1																			0																																																			0							g.chr15:23131706delA																													15.37:g.23131706delA														0	129	-									RNA	DEL	ENST00000560053.1	37																																																																																						0.259	RP11-26F2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415904.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578485	7578485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr17:7578485delA	ENST00000269305.4	-	5	634	c.445delT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs	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	149	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(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)	GGGGGTGTGGAATCAACCCAC	0.602		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"""		29	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(8)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)	breast(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|oesophagus(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.(445-447)ccfs	Other conserved DNA damage response genes	tumor protein p53							57.0	57.0	57.0					17																	7578485		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578485delA	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.445delT	17.37:g.7578485delA	ENSP00000269305:p.Ser149fs	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_ENST00000455263.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S149fs	p.S149fs	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)	5	577	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	149		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.445delT	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	12						28	12	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29446818	29446820	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr18:29446818_29446820delGAC	ENST00000283351.4	-	18	2917_2919	c.2582_2584delGTC	c.(2581-2586)tgtcac>tac	p.861_862CH>Y	TRAPPC8_ENST00000582539.1_In_Frame_Del_p.807_808CH>Y	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	861					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTACCTGTGTGACATCCGGGAAG	0.384																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2581-2586)tac>t		trafficking protein particle complex 8																																				SO:0001651	inframe_deletion	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29446818_29446820delGAC	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2582_2584delGTC	18.37:g.29446818_29446820delGAC	ENSP00000283351:p.Cys861_His862delinsTyr					TRAPPC8_ENST00000582539.1_In_Frame_Del_p.CH807del	p.CH861del	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			18	2917_2919	-			861					A0JP15|B3KME5|Q9H0L2	In_Frame_Del	DEL	ENST00000283351.4	37	c.2582_2584delGTC	CCDS11901.1																																																																																				0.384	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		32	73						32	73	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Frame_Shift_Del	DEL	G	G	-	rs375320861		TCGA-HC-A9TE-01A-11D-A41K-08	TCGA-HC-A9TE-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8483a81-abcb-43d1-abea-e4c00743c928	8ee5606a-20d7-43a6-a199-d18c295e4b1d	g.chr19:38899416delG	ENST00000252530.5	+	8	963	c.944delG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)cgfs		family with sequence similarity 98, member C				4,25,3497		0,0,4,12,1,1746	57.0	62.0	61.0			4.8	1.0	19		62	10,59,7735		0,0,10,27,5,3860	no	codingComplex	FAM98C	NM_174905.3		0,0,14,39,6,5606	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8842,0.8225,0.865			38899416	14,84,11232	1832	4072	5904	SO:0001589	frameshift_variant	147965							g.chr19:38899416delG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944delG	19.37:g.38899416delG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	p.R315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Del	DEL	ENST00000252530.5	37	c.944delG	CCDS42562.1																																																																																				0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		14	62						14	62	---	---	---	---
