#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
CEACAM7	1087	broad.mit.edu	37	19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(592-594)aAc>aGc		carcinoembryonic antigen-related cell adhesion molecule 7							172.0	161.0	165.0					19																	42187829		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187829T>C	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.593A>G	19.37:g.42187829T>C	ENSP00000006724:p.Asn198Ser					CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S	p.N198S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	794	-			198			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.593A>G	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548666	0.27652	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.11821	2.74;2.74	2.83	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35393	0.0930	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.10941	-1.0608	9	0.87932	D	0	.	7.4806	0.27402	0.0:0.0:0.0:1.0	.	198	Q14002	CEAM7_HUMAN	S	198;177;198	ENSP00000006724:N198S;ENSP00000385932:N198S	ENSP00000006724:N198S	N	-	2	0	CEACAM7	46879669	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	1.864000	0.39469	1.060000	0.40578	0.260000	0.18958	AAC		0.527	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		15	144	0	0	0	1	0	15	144				
PIK3R3	8503	broad.mit.edu	37	1	46527681	46527681	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGTGACACTGCTCTTCAAATA	0.358																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(682-684)gaG>gaA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							222.0	207.0	212.0					1																	46527681		2203	4300	6503	SO:0001819	synonymous_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46527681C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.684G>A	1.37:g.46527681C>T						PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E	p.E228E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			6	1373	-	Acute lymphoblastic leukemia(166;0.155)		228					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Silent	SNP	ENST00000262741.5	37	c.684G>A	CCDS529.1																																																																																				0.358	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		17	123	0	0	0	1	0	17	123				
DUOX2	50506	broad.mit.edu	37	15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000603300.1	-	14	1844	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000389039.6_Missense_Mutation_p.I548V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1642-1644)Atc>Gtc		dual oxidase 2							157.0	138.0	144.0					15																	45399594		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399594T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1642A>G	15.37:g.45399594T>C	ENSP00000475084:p.Ile548Val					DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V	p.I548V			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	2027	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	548			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1642A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	9.828	1.187676	0.21870	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.48	3.12	0.35913	.	0.144343	0.64402	D	0.000007	T	0.25082	0.0609	N	0.14661	0.345	0.20821	N	0.999845	B;B	0.15719	0.001;0.014	B;B	0.25759	0.012;0.063	T	0.20605	-1.0270	9	0.62326	D	0.03	-6.0227	6.5886	0.22634	0.1415:0.0755:0.0:0.783	.	548;110	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	V	548	.	ENSP00000373691:I548V	I	-	1	0	DUOX2	43186886	1.000000	0.71417	0.166000	0.22797	0.021000	0.10359	4.322000	0.59215	0.354000	0.24105	0.523000	0.50628	ATC		0.522	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		34	100	0	0	0	1	0	34	100				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	63	0	0	0	1	0	4	63				
MYO18B	84700	broad.mit.edu	37	22	26304380	26304380	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:26304380G>A	ENST00000407587.2	+	32	5412	c.5243G>A	c.(5242-5244)cGt>cAt	p.R1748H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R1747H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1747	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGATGTCCGTCAGTCCTGC	0.602																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5239-5241)cGt>cAt		myosin XVIIIB							46.0	58.0	54.0					22																	26304380		2120	4233	6353	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26304380G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5243G>A	22.37:g.26304380G>A	ENSP00000386096:p.Arg1748His					MYO18B_ENST00000407587.2_Missense_Mutation_p.R1748H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H	p.R1747H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			32	5490	+			1747			Gln-rich.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5240G>A		.	.	.	.	.	.	.	.	.	.	G	24.6	4.544265	0.86022	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.90324	-2.64;-2.64;-2.65	5.65	5.65	0.86999	.	0.068151	0.56097	D	0.000025	D	0.94889	0.8348	M	0.72353	2.195	0.40394	D	0.979572	D;D;D;D	0.89917	0.99;0.994;1.0;0.997	P;P;D;P	0.91635	0.715;0.619;0.999;0.788	D	0.95094	0.8224	10	0.59425	D	0.04	.	17.2182	0.86950	0.0:0.0:1.0:0.0	.	1260;1747;1748;1747	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	1747;1747;1748	ENSP00000441229:R1747H;ENSP00000334563:R1747H;ENSP00000386096:R1748H	ENSP00000334563:R1747H	R	+	2	0	MYO18B	24634380	0.992000	0.36948	0.998000	0.56505	0.999000	0.98932	4.093000	0.57714	2.659000	0.90383	0.655000	0.94253	CGT		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	9	0	0	0	1	0	3	9				
USP26	83844	broad.mit.edu	37	X	132159947	132159947	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chrX:132159947G>T	ENST00000511190.1	-	6	2771	c.2302C>A	c.(2302-2304)Cac>Aac	p.H768N	USP26_ENST00000370832.1_Missense_Mutation_p.H768N|USP26_ENST00000406273.1_Missense_Mutation_p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	768	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGTGTGCCCCTGGGTG	0.463																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(2302-2304)Cac>Aac		ubiquitin specific peptidase 26							94.0	95.0	95.0					X																	132159947		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159947G>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2302C>A	X.37:g.132159947G>T	ENSP00000423390:p.His768Asn					USP26_ENST00000406273.1_Missense_Mutation_p.H768N|USP26_ENST00000370832.1_Missense_Mutation_p.H768N	p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2771	-	Acute lymphoblastic leukemia(192;0.000127)		768					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2302C>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786450	0.31593	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52526	0.66;0.66;0.66	4.13	-2.22	0.06952	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.052620	0.07540	N	0.913722	T	0.43233	0.1238	L	0.36672	1.1	0.09310	N	1	P	0.37688	0.605	P	0.48141	0.568	T	0.44544	-0.9321	10	0.27785	T	0.31	-0.3194	5.8656	0.18773	0.6034:0.0:0.2472:0.1495	.	768	Q9BXU7	UBP26_HUMAN	N	768	ENSP00000359869:H768N;ENSP00000423390:H768N;ENSP00000384360:H768N	ENSP00000359869:H768N	H	-	1	0	USP26	131987613	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.656000	0.05342	-0.721000	0.04929	0.600000	0.82982	CAC		0.463	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	60	1	0	0.248553	1	0.248553	7	60				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	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	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	32	0	0	0	1	0	14	32				
PAH	5053	broad.mit.edu	37	12	103234271	103234271	+	Missense_Mutation	SNP	G	G	A	rs5030858	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:103234271G>A	ENST00000553106.1	-	12	1694	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PAH_ENST00000307000.2_Missense_Mutation_p.R403W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12). {ECO:0000269|PubMed:1355066}.|R -> W (in HPA and PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation; reduction in activity is probably due to a global conformational change in the protein that reduces allostery; dbSNP:rs5030858). {ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1355066, ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:8889590, ECO:0000269|PubMed:9452062, ECO:0000269|PubMed:9600453}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAAGGGCCGAGGTATTGTG	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CD941753|CM870016	PAH	D|M	rs5030858	c.(1222-1224)Cgg>Tgg		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	G	TRP/ARG	0,4406		0,0,2203	149.0	134.0	139.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1222	1.4	0.1	12	dbSNP_113	139	15,8585	11.2+/-40.8	0,15,4285	yes	missense	PAH	NM_000277.1	101	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	probably-damaging	408/453	103234271	15,12991	2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103234271G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1222C>T	12.37:g.103234271G>A	ENSP00000448059:p.Arg408Trp					PAH_ENST00000307000.2_Missense_Mutation_p.R403W	p.R408W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			12	1694	-			408		R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.1222C>T	CCDS9092.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	19.02	3.746341	0.69418	0.0	0.001744	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99793	-6.77;-6.77	5.63	1.44	0.22558	Aromatic amino acid hydroxylase, C-terminal (4);	0.106718	0.64402	D	0.000010	D	0.99843	0.9928	H	0.96633	3.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	-12.2594	14.5102	0.67780	0.0:0.0:0.5437:0.4563	rs5030858;rs28934898;rs52789707;rs57200983;rs62644491	408	P00439	PH4H_HUMAN	W	408;403	ENSP00000448059:R408W;ENSP00000303500:R403W	ENSP00000303500:R403W	R	-	1	2	PAH	101758401	0.998000	0.40836	0.099000	0.21106	0.957000	0.61999	4.137000	0.58010	-0.005000	0.14395	0.561000	0.74099	CGG		0.458	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			21	76	0	0	0	1	0	21	76				
DPRX	503834	broad.mit.edu	37	19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(118-120)tAc>tGc		divergent-paired related homeobox							138.0	119.0	125.0					19																	54137875		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137875A>G		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.119A>G	19.37:g.54137875A>G	ENSP00000365838:p.Tyr40Cys						p.Y40C	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	170	+	Ovarian(34;0.19)		40						Missense_Mutation	SNP	ENST00000376650.1	37	c.119A>G	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548586	0.65311	.	.	ENSG00000204595	ENST00000376650	D	0.97430	-4.38	1.73	1.73	0.24493	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.98645	0.9546	H	0.96805	3.885	0.26875	N	0.96767	D	0.89917	1.0	D	0.91635	0.999	D	0.93294	0.6671	9	0.87932	D	0	.	5.5468	0.17069	1.0:0.0:0.0:0.0	.	40	A6NFQ7	DPRX_HUMAN	C	40	ENSP00000365838:Y40C	ENSP00000365838:Y40C	Y	+	2	0	DPRX	58829687	0.929000	0.31497	0.905000	0.35620	0.958000	0.62258	1.487000	0.35540	1.054000	0.40438	0.454000	0.30748	TAC		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		15	90	0	0	0	1	0	15	90				
ADCY8	114	broad.mit.edu	37	8	131861901	131861901	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:131861901C>T	ENST00000286355.5	-	10	4451	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	787					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATGATGACGTTCCGGGCC	0.463										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2359-2361)Gtc>Atc		adenylate cyclase 8 (brain)							132.0	123.0	126.0					8																	131861901		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131861901C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2359G>A	8.37:g.131861901C>T	ENSP00000286355:p.Val787Ile	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.V787I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	4451	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		787						Missense_Mutation	SNP	ENST00000286355.5	37	c.2359G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892554	0.33442	.	.	ENSG00000155897	ENST00000286355	T	0.45668	0.89	5.25	3.44	0.39384	.	0.412422	0.25714	N	0.028786	T	0.24122	0.0584	N	0.25647	0.755	0.80722	D	1	B	0.31077	0.307	B	0.20384	0.029	T	0.04078	-1.0979	10	0.13470	T	0.59	.	10.3251	0.43787	0.0:0.8408:0.0:0.1592	.	787	P40145	ADCY8_HUMAN	I	787	ENSP00000286355:V787I	ENSP00000286355:V787I	V	-	1	0	ADCY8	131931083	1.000000	0.71417	0.949000	0.38748	0.999000	0.98932	4.588000	0.60999	0.585000	0.29608	0.655000	0.94253	GTC		0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	85	0	0	0	1	0	13	85				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	53	0	0	0	1	0	5	53				
CTNNB1	1499	broad.mit.edu	37	3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACCACAAGCAGAGTGCTGAAG	0.408		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1024-1026)aGa>aAa		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						119.0	114.0	116.0					3																	41268787		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41268787G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1025G>A	3.37:g.41268787G>A	ENSP00000344456:p.Arg342Lys					CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K	p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	1305	+			342					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1025G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883962	0.97062	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08268	0.0206	M	0.76574	2.34	0.80722	D	1	P;D	0.63046	0.685;0.992	P;D	0.65443	0.716;0.935	T	0.21518	-1.0243	10	0.33940	T	0.23	-5.126	19.382	0.94540	0.0:0.0:1.0:0.0	.	270;342	B4DSW9;P35222	.;CTNB1_HUMAN	K	342;342;342;335;342	ENSP00000385604:R342K;ENSP00000379486:R342K;ENSP00000344456:R342K;ENSP00000411226:R335K;ENSP00000379488:R342K	ENSP00000344456:R342K	R	+	2	0	CTNNB1	41243791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	AGA		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	70	0	0	0	1	0	9	70				
GPR87	53836	broad.mit.edu	37	3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(61-63)Cac>Aac		G protein-coupled receptor 87							73.0	71.0	71.0					3																	151012973		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012973G>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.61C>A	3.37:g.151012973G>T	ENSP00000260843:p.His21Asn					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.H21N	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	525	-			21					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.61C>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215422	0.22373	.	.	ENSG00000138271	ENST00000260843	T	0.60672	0.17	5.31	3.48	0.39840	.	1.536280	0.03392	N	0.202011	T	0.42404	0.1201	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23691	-1.0181	10	0.27785	T	0.31	-0.7584	7.8688	0.29554	0.1565:0.1353:0.7083:0.0	.	21	Q9BY21	GPR87_HUMAN	N	21	ENSP00000260843:H21N	ENSP00000260843:H21N	H	-	1	0	GPR87	152495663	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.344000	0.19962	1.362000	0.46000	0.655000	0.94253	CAC		0.488	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			15	64	1	0	0.00316338	1	0.00332155	15	64				
CSMD2	114784	broad.mit.edu	37	1	34003036	34003036	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805G>A	c.(9805-9807)Gat>Aat	p.D3269N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.e61+1		CUB and Sushi multiple domains 2							101.0	105.0	104.0					1																	34003036		2203	4300	6503	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34003036C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9805+1G>A	1.37:g.34003036C>T							p.D3269_splice	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			61	9981	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3247					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373381.4	37	c.9805_splice		.	.	.	.	.	.	.	.	.	.	C	15.97	2.990137	0.54041	.	.	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.66	5.66	0.87406	Sushi/SCR/CCP (1);	0.053759	0.64402	N	0.000001	T	0.36663	0.0975	M	0.75264	2.295	0.80722	D	1	B;B	0.17268	0.003;0.021	B;B	0.30029	0.016;0.11	T	0.12142	-1.0559	9	.	.	.	.	18.7275	0.91720	0.0:1.0:0.0:0.0	.	3125;3269	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	3269	ENSP00000362479:D3269N	.	D	-	1	0	CSMD2	33775623	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	7.718000	0.84743	2.673000	0.90976	0.555000	0.69702	GAT		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	Missense_Mutation	5	152	0	0	0	1	0	5	152				
FGFRL1	53834	broad.mit.edu	37	4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(241-243)cCg>cTg		fibroblast growth factor receptor-like 1							35.0	32.0	33.0					4																	1016153		2195	4294	6489	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1016153C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.242C>T	4.37:g.1016153C>T	ENSP00000381498:p.Pro81Leu					FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L	p.P81L			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	822	+			81			Ig-like C2-type 1.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.242C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	10.98	1.504717	0.26949	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.62	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141281	0.50627	D	0.000113	T	0.53932	0.1827	L	0.58583	1.82	0.43673	D	0.996108	P	0.42871	0.792	B	0.37047	0.24	T	0.56805	-0.7918	10	0.38643	T	0.18	-25.4316	10.3474	0.43913	0.3115:0.6885:0.0:0.0	.	81	Q8N441	FGRL1_HUMAN	L	81;51;81;81;81;81	ENSP00000381498:P81L;ENSP00000425025:P81L;ENSP00000423091:P81L;ENSP00000424037:P81L;ENSP00000264748:P81L	ENSP00000264748:P81L	P	+	2	0	FGFRL1	1006153	0.537000	0.26386	0.999000	0.59377	0.205000	0.24178	0.937000	0.28951	2.109000	0.64355	0.457000	0.33378	CCG		0.687	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		7	22	0	0	0	1	0	7	22				
STIL	6491	broad.mit.edu	37	1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(955-957)tgT>tgA		SCL/TAL1 interrupting locus							75.0	75.0	75.0					1																	47755173		2203	4300	6503	SO:0001587	stop_gained	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47755173A>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.957T>A	1.37:g.47755173A>T	ENSP00000353544:p.Cys319*					STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*	p.C319*			Q15468	STIL_HUMAN			10	1320	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	319					Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	c.957T>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	A	37	6.222840	0.97390	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.69	0.378	0.16204	.	0.336296	0.37393	N	0.002113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5671	2.3682	0.04324	0.5144:0.1603:0.2216:0.1037	.	.	.	.	X	319;319;319;319;319;272	.	ENSP00000243182:C319X	C	-	3	2	STIL	47527760	0.039000	0.19947	0.991000	0.47740	0.996000	0.88848	0.228000	0.17814	0.433000	0.26313	0.477000	0.44152	TGT		0.353	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	32	0	0	0	1	0	9	32				
DDN	23109	broad.mit.edu	37	12	49391578	49391578	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:49391578C>T	ENST00000421952.2	-	2	1102	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	361	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCTGGGAGCGGGATGCGGG	0.607																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1081-1083)Gct>Act		dendrin							38.0	39.0	38.0					12																	49391578		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391578C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1081G>A	12.37:g.49391578C>T	ENSP00000390590:p.Ala361Thr						p.A361T	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1102	-			361			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1081G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	2.277	-0.365621	0.05069	.	.	ENSG00000181418	ENST00000421952	T	0.45276	0.9	4.09	2.27	0.28462	.	0.326902	0.22343	N	0.061313	T	0.22085	0.0532	N	0.24115	0.695	0.09310	N	1	B	0.20459	0.045	B	0.18871	0.023	T	0.19712	-1.0297	10	0.10377	T	0.69	-18.1259	6.1056	0.20071	0.0:0.6888:0.0:0.3112	.	361	O94850	DEND_HUMAN	T	361	ENSP00000390590:A361T	ENSP00000390590:A361T	A	-	1	0	DDN	47677845	0.000000	0.05858	0.005000	0.12908	0.395000	0.30598	-0.137000	0.10389	0.699000	0.31761	-0.258000	0.10820	GCT		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			12	46	0	0	0	1	0	12	46				
ZNF623	9831	broad.mit.edu	37	8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T	rs374072601		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V|ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(229-231)gGc>gTc		zinc finger protein 623							75.0	79.0	78.0					8																	144732272		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732272G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.230G>T	8.37:g.144732272G>T	ENSP00000445979:p.Gly77Val					ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	p.G77V	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	319	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		77					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.230G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.017	0.983932	0.18889	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.05855	3.38;3.38;3.4	3.5	1.7	0.24286	.	.	.	.	.	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	0.999997	B	0.23650	0.089	B	0.24269	0.052	T	0.41124	-0.9526	9	0.56958	D	0.05	-4.0954	5.3291	0.15922	0.3633:0.0:0.6367:0.0	.	77	O75123	ZN623_HUMAN	V	37;37;37;77;77	ENSP00000435232:G37V;ENSP00000411139:G37V;ENSP00000445979:G77V	ENSP00000330358:G37V	G	+	2	0	ZNF623	144803415	0.001000	0.12720	0.001000	0.08648	0.219000	0.24729	1.029000	0.30140	0.496000	0.27904	0.655000	0.94253	GGC		0.547	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		33	73	1	0	3.62531e-18	1	4.00692e-18	33	73				
NCKAP1L	3071	broad.mit.edu	37	12	54903702	54903702	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:54903702G>A	ENST00000293373.6	+	7	747	c.668G>A	c.(667-669)cGc>cAc	p.R223H	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R223H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCAGTGGCGCAGTGCCCAA	0.512																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R223H(1)	endometrium(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(667-669)cGc>cAc		NCK-associated protein 1-like							155.0	151.0	153.0					12																	54903702		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903702G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.668G>A	12.37:g.54903702G>A	ENSP00000293373:p.Arg223His					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H|NCKAP1L_ENST00000552211.1_3'UTR	p.R223H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			7	747	+			223					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.668G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472268	0.96274	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57595	0.39;0.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77600	-0.2527	10	0.87932	D	0	-12.4271	17.6174	0.88071	0.0:0.0:1.0:0.0	.	223	P55160	NCKPL_HUMAN	H	223;173	ENSP00000293373:R223H;ENSP00000445596:R173H	ENSP00000293373:R223H	R	+	2	0	NCKAP1L	53189969	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.746000	0.94184	0.563000	0.77884	CGC		0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	146	0	0	0	1	0	6	146				
BPNT1	10380	broad.mit.edu	37	1	220253161	220253161	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:220253161G>A	ENST00000469520.2	-	3	477	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000544404.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GCTACCAACCGCATCAACACA	0.398																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(28-30)Cgg>Tgg		3'(2'), 5'-bisphosphate nucleotidase 1							104.0	92.0	96.0					1																	220253161		1909	4115	6024	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253161G>A	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.28C>T	1.37:g.220253161G>A	ENSP00000446828:p.Arg10Trp					BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron	p.R10W			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	3	477	-			10					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.28C>T	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069779	0.76301	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000498237	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.51	5.51	0.81932	.	0.173879	0.51477	D	0.000097	D	0.92338	0.7569	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.968;0.989;0.994	D	0.93481	0.6827	10	0.87932	D	0	.	13.231	0.59943	0.0:0.0:0.8406:0.1593	.	10;10;10	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	W	10	ENSP00000318852:R10W;ENSP00000446828:R10W;ENSP00000346862:R10W;ENSP00000410348:R10W;ENSP00000446953:R10W;ENSP00000446850:R10W;ENSP00000449883:R10W	ENSP00000307087:R10W	R	-	1	2	BPNT1	218319784	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.386000	0.59620	2.615000	0.88500	0.579000	0.79373	CGG		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		6	59	0	0	0	1	0	6	59				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	10	0	0	0	1	0	4	10				
MT1E	4493	broad.mit.edu	37	16	56659784	56659784	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr16:56659784C>T	ENST00000306061.6	+	1	398	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000330439.6_Silent_p.C7C	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	7	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										ACTGCTCTTGCGCCACTGGTA	0.547																																						ENST00000330439.6																			0											c.(19-21)tgC>tgT		metallothionein 1E							136.0	120.0	125.0					16																	56659784		2198	4300	6498	SO:0001819	synonymous_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56659784C>T	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.21C>T	16.37:g.56659784C>T						MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000306061.6_Silent_p.C7C	p.C7C			P04732	MT1E_HUMAN			1	75	+			7			Beta.		A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37	c.21C>T	CCDS10764.2																																																																																				0.547	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		4	134	0	0	0	1	0	4	134				
PRKD1	5587	broad.mit.edu	37	14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2005-2007)Atg>Gtg		protein kinase D1							118.0	116.0	117.0					14																	30068924		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30068924T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2005A>G	14.37:g.30068924T>C	ENSP00000333568:p.Met669Val					PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	p.M669V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	14	2234	-	Hepatocellular(127;0.0604)		669			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2005A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251636	0.80135	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	N	0.12182	0.205	0.80722	D	1	P	0.51933	0.949	P	0.52031	0.688	T	0.81322	-0.0985	10	0.72032	D	0.01	-26.3729	16.4237	0.83790	0.0:0.0:0.0:1.0	.	669	Q15139	KPCD1_HUMAN	V	669;677	ENSP00000333568:M669V;ENSP00000390535:M677V	ENSP00000333568:M669V	M	-	1	0	PRKD1	29138675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	ATG		0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	76	0	0	0	1	0	5	76				
SYNDIG1	79953	broad.mit.edu	37	20	24523910	24523910	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr20:24523910G>A	ENST00000376862.3	+	2	810	c.177G>A	c.(175-177)ccG>ccA	p.P59P		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	59					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCACAGTGCCGGCCAGCCTGG	0.627																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(175-177)ccG>ccA		synapse differentiation inducing 1							39.0	44.0	42.0					20																	24523910		2203	4299	6502	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523910G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.177G>A	20.37:g.24523910G>A							p.P59P	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	810	+			59					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.177G>A	CCDS13164.1																																																																																				0.627	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		5	76	0	0	0	1	0	5	76				
TRIP4	9325	broad.mit.edu	37	15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1123-1125)Cct>Tct		thyroid hormone receptor interactor 4							120.0	111.0	114.0					15																	64706363		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64706363C>T	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1123C>T	15.37:g.64706363C>T	ENSP00000261884:p.Pro375Ser						p.P375S	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			8	1183	+			375					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.1123C>T	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520682	0.27211	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.53	5.53	0.82687	.	0.424990	0.27941	N	0.017238	T	0.39860	0.1094	N	0.20986	0.625	0.43803	D	0.996353	B	0.15719	0.014	B	0.10450	0.005	T	0.24657	-1.0154	9	0.09084	T	0.74	-1.037	11.9854	0.53145	0.0:0.9179:0.0:0.0821	.	375	Q15650	TRIP4_HUMAN	S	375	.	ENSP00000261884:P375S	P	+	1	0	TRIP4	62493416	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.850000	0.39328	2.588000	0.87417	0.655000	0.94253	CCT		0.448	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		8	67	0	0	0	1	0	8	67				
COL9A2	1298	broad.mit.edu	37	1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(586-588)Ggc>Tgc		collagen, type IX, alpha 2							145.0	123.0	131.0					1																	40776809		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40776809C>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.586G>T	1.37:g.40776809C>A	ENSP00000361834:p.Gly196Cys						p.G196C	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	682	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	196			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.586G>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.6|24.6	4.544455|4.544455	0.86022|0.86022	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.99369|.	-5.78|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.049453|0.049453	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89529|0.89529	0.6741|0.6741	H|H	0.99104|0.99104	4.43|4.43	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93363|0.93363	0.6728|0.6728	10|6	0.87932|.	D|.	0|.	.|.	15.2358|15.2358	0.73430|0.73430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	196|.	Q14055|.	CO9A2_HUMAN|.	C|V	196|184	ENSP00000361834:G196C|.	ENSP00000361834:G196C|.	G|G	-|-	1|2	0|0	COL9A2|COL9A2	40549396|40549396	0.825000|0.825000	0.29262|0.29262	0.570000|0.570000	0.28473|0.28473	0.175000|0.175000	0.22909|0.22909	1.972000|1.972000	0.40540|0.40540	2.660000|2.660000	0.90430|0.90430	0.558000|0.558000	0.71614|0.71614	GGC|GGG		0.617	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		14	58	1	0	0.00244969	1	0.00261578	14	58				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	41	0	0	0	1	0	4	41				
ST5	6764	broad.mit.edu	37	11	8737335	8737335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr11:8737335G>A	ENST00000534127.1	-	9	2045	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C|ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000313726.6_Missense_Mutation_p.R554C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	554					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCCACTGCGCAGGGACTGG	0.622																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1660-1662)Cgc>Tgc		suppression of tumorigenicity 5							78.0	66.0	70.0					11																	8737335		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737335G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1660C>T	11.37:g.8737335G>A	ENSP00000433528:p.Arg554Cys					ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000313726.6_Missense_Mutation_p.R554C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C	p.R554C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2045	-			554					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1660C>T	CCDS7791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.015002|5.015002	0.93404|0.93404	.|.	.|.	ENSG00000166444|ENSG00000166444	ENST00000527510|ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196;ENST00000530580	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.10192	.|2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.127336	.|0.52532	.|D	.|0.000066	T|T	0.23492|0.23492	0.0568|0.0568	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.997;0.998;0.999	.|P;P;P	.|0.59357	.|0.634;0.827;0.856	T|T	0.00110|0.00110	-1.2047|-1.2047	6|10	0.42905|0.38643	T|T	0.14|0.18	-13.2865|-13.2865	15.2488|15.2488	0.73526|0.73526	0.0:0.0:0.859:0.141|0.0:0.0:0.859:0.141	.|.	.|67;134;554	.|B4DDL8;P78524-2;P78524	.|.;.;ST5_HUMAN	V|C	127|134;554;554;26;554;67;134;26;164;26;26;43;26;134;134	.|ENSP00000435097:R134C;ENSP00000433528:R554C;ENSP00000319678:R554C;ENSP00000432887:R26C;ENSP00000350294:R554C;ENSP00000436808:R67C;ENSP00000436802:R134C;ENSP00000433588:R26C;ENSP00000437096:R26C;ENSP00000431580:R26C;ENSP00000433858:R43C;ENSP00000431564:R134C	ENSP00000434701:A127V|ENSP00000319678:R554C	A|R	-|-	2|1	0|0	ST5|ST5	8693911|8693911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.944000|6.944000	0.75940|0.75940	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		7	111	0	0	0	1	0	7	111				
ITSN2	50618	broad.mit.edu	37	2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4342-4344)aaG>aaT		intersectin 2							197.0	183.0	187.0					2																	24432816		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432816C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4344G>T	2.37:g.24432816C>A	ENSP00000347244:p.Lys1448Asn					ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	p.K1448N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			35	4787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1448			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4344G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750865	0.49257	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.50001	0.76;0.76;0.76	4.26	3.36	0.38483	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.36665	U	0.002472	T	0.61173	0.2326	M	0.83012	2.62	0.48571	D	0.999671	D;D	0.64830	0.994;0.99	P;P	0.55749	0.783;0.612	T	0.67413	-0.5677	10	0.87932	D	0	.	9.4607	0.38783	0.0:0.833:0.0:0.167	.	1421;1448	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	N	1421;1448;1421	ENSP00000354561:K1421N;ENSP00000347244:K1448N;ENSP00000370250:K1421N	ENSP00000347244:K1448N	K	-	3	2	ITSN2	24286320	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.984000	0.40658	2.102000	0.63906	0.455000	0.32223	AAG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	192	1	0	0.00909568	1	0.0093939	4	192				
TRPM6	140803	broad.mit.edu	37	9	77415276	77415276	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:77415276G>A	ENST00000360774.1	-	17	2369	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000451710.3_Missense_Mutation_p.A711V|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	711					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCCGACACGGCCAGTTTAAG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2131-2133)gCc>gTc		transient receptor potential cation channel, subfamily M, member 6							129.0	105.0	113.0					9																	77415276		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415276G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2132C>T	9.37:g.77415276G>A	ENSP00000354006:p.Ala711Val					TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A711V	p.A711V			Q9BX84	TRPM6_HUMAN			17	2369	-			711					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2132C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	35	5.509984	0.96386	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	6.06	6.06	0.98353	.	0.093752	0.64402	D	0.000001	D	0.89938	0.6860	M	0.91663	3.23	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.968;0.991	D	0.90918	0.4781	10	0.87932	D	0	.	20.2501	0.98402	0.0:0.0:1.0:0.0	.	374;711;706	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	V	711;711;706;706;711;374;374	ENSP00000354006:A711V;ENSP00000407341:A711V;ENSP00000396672:A706V;ENSP00000354962:A706V;ENSP00000366060:A711V	ENSP00000309693:A374V	A	-	2	0	TRPM6	76605096	1.000000	0.71417	0.972000	0.41901	0.749000	0.42624	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GCC		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	88	0	0	0	1	0	4	88				
LHFPL5	222662	broad.mit.edu	37	6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000373853.1	+	1	403	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000360215.1_Missense_Mutation_p.E9K			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(25-27)Gag>Aag		lipoma HMGIC fusion partner-like 5							92.0	83.0	86.0					6																	35773472		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773472G>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.25G>A	6.37:g.35773472G>A	ENSP00000362960:p.Glu9Lys					LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	p.E9K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	402	+			9					B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.25G>A	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396687	0.96009	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.79845	-1.31;-1.31	5.54	4.68	0.58851	.	0.046647	0.85682	D	0.000000	D	0.86867	0.6036	M	0.81682	2.555	0.53005	D	0.999966	D	0.63880	0.993	D	0.70935	0.971	D	0.89043	0.3450	10	0.72032	D	0.01	-20.6434	14.2282	0.65873	0.0715:0.0:0.9285:0.0	.	9	Q8TAF8	TMHS_HUMAN	K	9	ENSP00000362960:E9K;ENSP00000353346:E9K	ENSP00000353346:E9K	E	+	1	0	LHFPL5	35881450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.775000	0.98995	1.340000	0.45581	0.542000	0.68232	GAG		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		13	75	0	0	0	1	0	13	75				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	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		5	38	0	0	0	1	0	5	38				
SFMBT1	51460	broad.mit.edu	37	3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2575-2577)Gct>Act		Scm-like with four mbt domains 1							123.0	111.0	115.0					3																	52939178		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52939178C>T	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2575G>A	3.37:g.52939178C>T	ENSP00000378235:p.Ala859Thr					SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T	p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	21	2957	-			859			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2575G>A	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853024	0.91355	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.16	6.16	0.99307	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.51725	-0.8669	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	816;859	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	T	859;859;816;859	ENSP00000378235:A859T;ENSP00000350789:A859T;ENSP00000296295:A816T;ENSP00000378233:A859T	ENSP00000296295:A816T	A	-	1	0	SFMBT1	52914218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCT		0.453	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		11	52	0	0	0	1	0	11	52				
SH3D19	152503	broad.mit.edu	37	4	152048836	152048836	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:152048836C>T	ENST00000409252.2	-	19	2897	c.2190G>A	c.(2188-2190)ccG>ccA	p.P730P	SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000409598.4_Silent_p.P707P|SH3D19_ENST00000514152.1_Silent_p.P707P|SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000304527.4_Silent_p.P730P			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	730	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCTCCCCTTCGGTACTATGG	0.363																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(2119-2121)ccG>ccA		SH3 domain containing 19							81.0	72.0	75.0					4																	152048836		2203	4300	6503	SO:0001819	synonymous_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152048836C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2190G>A	4.37:g.152048836C>T						SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000304527.4_Silent_p.P730P|SH3D19_ENST00000409252.2_Silent_p.P730P|SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000514152.1_Silent_p.P707P	p.P707P			Q5HYK7	SH319_HUMAN			19	3288	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	730			SH3 4.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	c.2121G>A	CCDS34077.2																																																																																				0.363	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		5	33	0	0	0	1	0	5	33				
FCRL4	83417	broad.mit.edu	37	1	157559034	157559034	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498																																						ENST00000271532.1																			1	Substitution - coding silent(1)	p.G89G(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(265-267)ggC>ggT		Fc receptor-like 4							77.0	81.0	79.0					1																	157559034		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157559034G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.267C>T	1.37:g.157559034G>A						FCRL4_ENST00000448509.2_5'UTR	p.G89G	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	402	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	89			Ig-like C2-type 1.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.267C>T	CCDS1166.1																																																																																				0.498	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	81	0	0	0	1	0	5	81				
MOCS1	4337	broad.mit.edu	37	6	39877613	39877613	+	Silent	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000340692.5	-	9	1071	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000373186.4_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000425303.2_Silent_p.G356G			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1066-1068)ggG>ggT		molybdenum cofactor synthesis 1							114.0	102.0	106.0					6																	39877613		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39877613C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1068G>T	6.37:g.39877613C>A						MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G	p.G356G	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			8	1205	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		356			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1068G>T																																																																																					0.617	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		30	108	1	0	8.4185e-14	1	9.14424e-14	30	108				
FLT3	2322	broad.mit.edu	37	13	28608023	28608023	+	Splice_Site	SNP	C	C	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000241453.7	-	15	2024		c.e15+1		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000380982.4_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.e15+1		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						215.0	187.0	196.0					13																	28608023		2203	4300	6503	SO:0001630	splice_region_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608023C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1942+1G>C	13.37:g.28608023C>G						FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site				P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	2024	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)						A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	37		CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658039	0.47467	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27506023	1.000000	0.71417	0.992000	0.48379	0.221000	0.24807	7.016000	0.76393	2.705000	0.92388	0.655000	0.94253	.		0.433	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	31	101	0	0	0	1	0	31	101				
MCM5	4174	broad.mit.edu	37	22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.A394V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)gCc>gTc		minichromosome maintenance complex component 5							225.0	229.0	228.0					22																	35811928		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35811928C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1310C>T	22.37:g.35811928C>T	ENSP00000216122:p.Ala437Val					MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	p.A437V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			10	1464	+			437			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1310C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313649	0.95655	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.30981	1.51;1.51	5.66	4.64	0.57946	.	0.050691	0.85682	N	0.000000	T	0.71031	0.3292	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	D	0.83580	0.0117	10	0.87932	D	0	-12.5408	14.7639	0.69623	0.0:0.9305:0.0:0.0695	.	437;437;394;437	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	V	437;394;346	ENSP00000216122:A437V;ENSP00000371441:A394V	ENSP00000216122:A437V	A	+	2	0	MCM5	34141928	1.000000	0.71417	0.879000	0.34478	0.990000	0.78478	4.799000	0.62517	1.396000	0.46663	-0.150000	0.13652	GCC		0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			5	380	0	0	0	1	0	5	380				
PLEKHA5	54477	broad.mit.edu	37	12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000299275.6	+	11	1528	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1522-1524)Cag>Tag		pleckstrin homology domain containing, family A member 5							105.0	101.0	102.0					12																	19436440		2203	4300	6503	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436440C>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1522C>T	12.37:g.19436440C>T	ENSP00000299275:p.Gln508*					PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*	p.Q508*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1526	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		508					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.1522C>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	C	41	8.892666	0.98992	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6809	17.0912	0.86622	0.0:1.0:0.0:0.0	.	.	.	.	X	508;508;508;515;508;514;508;266;508;400;400;400	.	ENSP00000299275:Q508X	Q	+	1	0	PLEKHA5	19327707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.804000	0.75186	2.321000	0.78463	0.655000	0.94253	CAG		0.478	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		26	93	0	0	0	1	0	26	93				
COL5A1	1289	broad.mit.edu	37	9	137642640	137642640	+	Missense_Mutation	SNP	G	G	A	rs375762619		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:137642640G>A	ENST00000371817.3	+	13	1988	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	525	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGCAGTTCCGGTTTGGAGGT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16754	0.0		0.0	False		,,,				2504	0.0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1573-1575)cGg>cAg		collagen, type V, alpha 1		G	GLN/ARG	0,4406		0,0,2203	37.0	38.0	38.0		1574	4.5	1.0	9		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	COL5A1	NM_000093.3	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	525/1839	137642640	1,13003	2203	4299	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642640G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1574G>A	9.37:g.137642640G>A	ENSP00000360882:p.Arg525Gln						p.R525Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	1988	+		Myeloproliferative disorder(178;0.0341)	525			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1574G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855883	0.51376	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.89617	-2.54	4.54	4.54	0.55810	.	0.000000	0.64402	U	0.000001	D	0.90256	0.6953	L	0.48218	1.51	0.58432	D	0.999997	D	0.76494	0.999	P	0.56751	0.805	D	0.88863	0.3327	10	0.30078	T	0.28	.	16.4173	0.83746	0.0:0.0:1.0:0.0	.	525	P20908	CO5A1_HUMAN	Q	525	ENSP00000360882:R525Q	ENSP00000360882:R525Q	R	+	2	0	COL5A1	136782461	1.000000	0.71417	0.966000	0.40874	0.437000	0.31866	6.726000	0.74758	2.223000	0.72356	0.563000	0.77884	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	38	0	0	0	1	0	7	38				
PCDHB12	56124	broad.mit.edu	37	5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.602																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1327-1329)Gac>Aac									106.0	100.0	102.0					5																	140589806		2203	4298	6501	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589806G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1327G>A	5.37:g.140589806G>A	ENSP00000239450:p.Asp443Asn					PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	p.D443N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1516	+			443			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1327G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388069	0.61956	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.67698	-0.28;-0.28	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85805	0.5782	M	0.93283	3.4	0.46701	D	0.999166	D	0.89917	1.0	D	0.97110	1.0	D	0.90355	0.4369	9	0.87932	D	0	.	15.759	0.78063	0.0:0.0:1.0:0.0	.	443	Q9Y5F1	PCDBC_HUMAN	N	106;443;63	ENSP00000440199:D106N;ENSP00000239450:D443N	ENSP00000239450:D443N	D	+	1	0	PCDHB12	140569990	1.000000	0.71417	0.746000	0.31095	0.044000	0.14063	7.939000	0.87685	1.859000	0.53934	0.485000	0.47835	GAC		0.602	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		15	123	0	0	0	1	0	15	123				
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642																																						ENST00000292205.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(73-75)gTg>gGg		adenosine deaminase, RNA-specific							42.0	46.0	45.0					1																	154600401		876	1991	2867	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154600401A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000292205.5:c.74T>G	1.37:g.154600401A>C	ENSP00000292205:p.Val25Gly					ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	p.V25G	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	73	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		0					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000292205.5	37	c.74T>G		.	.	.	.	.	.	.	.	.	.	A	12.47	1.946908	0.34377	.	.	ENSG00000160710	ENST00000292205	T	0.13307	2.6	4.03	0.872	0.19113	.	1.108720	0.07140	N	0.847182	T	0.08447	0.0210	.	.	.	0.36170	D	0.848706	.	.	.	.	.	.	T	0.39603	-0.9606	7	0.87932	D	0	-2.0864	3.7143	0.08433	0.2329:0.2072:0.5598:0.0	.	.	.	.	G	25	ENSP00000292205:V25G	ENSP00000292205:V25G	V	-	2	0	ADAR	152867025	0.555000	0.26530	0.954000	0.39281	0.830000	0.47004	-0.015000	0.12634	0.471000	0.27319	-0.386000	0.06593	GTG		0.642	ADAR-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001111		7	31	0	0	0	1	0	7	31				
CSMD1	64478	broad.mit.edu	37	8	2832109	2832109	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000520002.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000602557.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8605-8607)gcC>gcT		CUB and Sushi multiple domains 1							39.0	42.0	41.0					8																	2832109		1979	4144	6123	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832109G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8607C>T	8.37:g.2832109G>A						CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000602557.1_Silent_p.A2869A	p.A2869A			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9162	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2869			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8607C>T		.	.	.	.	.	.	.	.	.	.	G	6.196	0.404332	0.11754	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.81	-11.0	0.00169	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	.	6.7324	0.23390	0.3017:0.0826:0.509:0.1067	.	.	.	.	C	2286	.	.	R	-	1	0	CSMD1	2819516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.773000	0.04689	-1.899000	0.01098	-1.202000	0.01658	CGT		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	15	0	0	0	1	0	3	15				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	44	0	0	0	1	0	3	44				
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000330909.8_Silent_p.Q412Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1234-1236)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1		C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425588C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1235	-		Lung NSC(201;0.0016)	412			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1236G>A		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	110	0	0	0	1	0	4	110				
PML	5371	broad.mit.edu	37	15	74336765	74336765	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:74336765C>T	ENST00000268058.3	+	9	2161	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	PML_ENST00000565898.1_Missense_Mutation_p.R641W	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	689					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACTTCTTCCGGGCCCTGGA	0.647			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1921-1923)Cgg>Tgg		promyelocytic leukemia							41.0	45.0	43.0					15																	74336765		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336765C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2065C>T	15.37:g.74336765C>T	ENSP00000268058:p.Arg689Trp					PML_ENST00000268058.3_Missense_Mutation_p.R689W	p.R641W			P29590	PML_HUMAN			8	2005	+			689					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1921C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738250	0.30774	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.54866	0.55	5.18	0.638	0.17742	.	1.416120	0.04517	N	0.383993	T	0.34221	0.0890	L	0.27053	0.805	0.27444	N	0.953627	P;B	0.49635	0.926;0.001	B;B	0.36504	0.226;0.001	T	0.37174	-0.9717	10	0.87932	D	0	-6.6011	2.8829	0.05653	0.396:0.3751:0.1377:0.0912	.	689;641	P29590;P29590-11	PML_HUMAN;.	W	689;250;672	ENSP00000268058:R689W	ENSP00000268058:R689W	R	+	1	2	PML	72123818	0.024000	0.19004	0.457000	0.27056	0.554000	0.35429	0.152000	0.16302	0.296000	0.22592	-0.253000	0.11424	CGG		0.647	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		4	58	0	0	0	1	0	4	58				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			2	4						2	4	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146714381	146714381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:146714381delG	ENST00000369258.4	+	1	48	c.28delG	c.(28-30)gggfs	p.G11fs	CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|RP11-337C18.10_ENST00000606856.1_RNA|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	11					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACTAGCCGCGGGGGCCAAGC	0.741																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(28-30)ggfs		chromodomain helicase DNA binding protein 1-like							5.0	8.0	7.0					1																	146714381		1990	3978	5968	SO:0001589	frameshift_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146714381delG	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.28delG	1.37:g.146714381delG	ENSP00000358262:p.Gly11fs					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs	p.G11fs	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			1	48	+	all_hematologic(923;0.0487)		11					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Frame_Shift_Del	DEL	ENST00000369258.4	37	c.28delG	CCDS927.1																																																																																				0.741	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		6	11						6	11	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000406316.2	-	10	3430	c.1954delC	c.(1954-1956)caafs	p.Q652fs	NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000404971.1_Frame_Shift_Del_p.Q692fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507																																						ENST00000404971.1																			6	Substitution - Missense(6)	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)	lung(6)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2074-2076)aafs		neurexin 1							224.0	236.0	232.0					2																	50765580		2197	4300	6497	SO:0001589	frameshift_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765580delG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1954delC	2.37:g.50765580delG	ENSP00000384311:p.Gln652fs					NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs	p.Q692fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3413	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	652			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Frame_Shift_Del	DEL	ENST00000406316.2	37	c.2074delC	CCDS54360.1																																																																																				0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			32	338						32	338	---	---	---	---
LOC101927497	101927497	broad.mit.edu	37	7	92518563	92518563	+	RNA	DEL	C	C	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr7:92518563delC	ENST00000419668.1	+	0	189				AC002454.1_ENST00000424523.1_RNA|AC002454.1_ENST00000452050.1_RNA|AC002454.1_ENST00000435695.1_RNA																							atggtggccgcccctccccac	0.562																																						ENST00000419668.1																			0																																																			0							g.chr7:92518563delC																													7.37:g.92518563delC						AC002454.1_ENST00000435695.1_RNA|AC002454.1_ENST00000452050.1_RNA|AC002454.1_ENST00000424523.1_RNA								0	189	+									RNA	DEL	ENST00000419668.1	37																																																																																						0.562	AC002454.1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000341807.1			2	4						2	4	---	---	---	---
