#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
PCDH15	65217	broad.mit.edu	37	10	55996666	55996666	+	Missense_Mutation	SNP	G	G	A	rs370933593		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:55996666G>A	ENST00000320301.6	-	9	1296	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000373965.2_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T306M(2)|p.T301M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTGGTGGCGTAACAATAAT	0.403										HNSCC(58;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		14172	0.0		0.0	False		,,,				2504	0.001					ENST00000373965.2																			3	Substitution - Missense(3)	p.T306M(2)|p.T301M(1)	large_intestine(3)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(901-903)aCg>aTg		protocadherin-related 15							171.0	163.0	166.0					10																	55996666		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55996666G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.902C>T	10.37:g.55996666G>A	ENSP00000322604:p.Thr301Met	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000320301.6_Missense_Mutation_p.T301M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M	p.T301M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			9	1296	-		Melanoma(3;0.117)|Lung SC(717;0.238)	301			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.902C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820342	0.50633	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	1.16;1.16;1.16;1.16;1.16;1.16;1.16;0.37;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.19	3.32	0.38043	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.70064	0.3181	M	0.80982	2.52	0.53688	D	0.999975	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.995;0.995;0.999;0.997;0.999;0.999;0.997;0.997;0.997;0.999;1.0;0.999;0.995	T	0.69367	-0.5164	9	0.51188	T	0.08	.	9.6564	0.39928	0.0791:0.1426:0.7783:0.0	.	279;301;301;306;301;264;301;301;301;301;301;306;301;279;301	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	M	301;306;301;301;301;301;301;301;264;301;279;279;301;301;306;301;301	ENSP00000363076:T301M;ENSP00000410304:T306M;ENSP00000378826:T301M;ENSP00000378832:T301M;ENSP00000378833:T301M;ENSP00000378829:T301M;ENSP00000378827:T301M;ENSP00000378820:T264M;ENSP00000354950:T301M;ENSP00000378821:T279M;ENSP00000363068:T279M;ENSP00000322604:T301M;ENSP00000378818:T301M;ENSP00000412628:T301M;ENSP00000363066:T301M	ENSP00000322604:T301M	T	-	2	0	PCDH15	55666672	1.000000	0.71417	0.568000	0.28447	0.333000	0.28666	5.594000	0.67557	0.577000	0.29470	0.650000	0.86243	ACG		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		61	70	0	0	0	1	0	61	70				
KREMEN2	79412	broad.mit.edu	37	16	3014524	3014524	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr16:3014524G>A	ENST00000303746.5	+	1	580	c.3G>A	c.(1-3)atG>atA	p.M1I	KREMEN2_ENST00000571007.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000572045.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000319500.6_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575769.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575885.1_Start_Codon_SNP_p.M1I			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	1					Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TGAGAGCGATGGGGACACAAG	0.687																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(1-3)atG>atA		kringle containing transmembrane protein 2							74.0	79.0	77.0					16																	3014524		2198	4300	6498	SO:0001582	initiator_codon_variant	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3014524G>A	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.3G>A	16.37:g.3014524G>A	ENSP00000304422:p.Met1Ile					KREMEN2_ENST00000303746.5_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575769.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575885.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000319500.6_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000571007.1_Start_Codon_SNP_p.M1I	p.M1I	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN			1	308	+			1					B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Translation_Start_Site	SNP	ENST00000303746.5	37	c.3G>A	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.338472	0.41398	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.56103	0.48;0.51	4.25	4.25	0.50352	.	0.323180	0.22030	U	0.065607	T	0.67869	0.2939	.	.	.	0.80722	D	1	P;P;P;P;P;P	0.48294	0.851;0.851;0.908;0.908;0.908;0.851	P;P;P;P;P;P	0.61397	0.775;0.775;0.888;0.888;0.888;0.775	T	0.70662	-0.4810	9	0.62326	D	0.03	.	12.8968	0.58104	0.0:0.0:1.0:0.0	.	1;1;1;1;1;1	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	I	1	ENSP00000304422:M1I;ENSP00000322079:M1I	ENSP00000304422:M1I	M	+	3	0	KREMEN2	2954525	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	2.896000	0.48656	2.306000	0.77630	0.556000	0.70494	ATG		0.687	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347	Missense_Mutation	36	54	0	0	0	1	0	36	54				
CACNA1F	778	broad.mit.edu	37	X	49069198	49069198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrX:49069198G>A	ENST00000376265.2	-	33	3965	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1302					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGACCAGCCGCATAACTCGG	0.522																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3904-3906)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						56.0	48.0	51.0					X																	49069198		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49069198G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3904C>T	X.37:g.49069198G>A	ENSP00000365441:p.Arg1302Trp					CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W	p.R1302W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			33	3965	-			1302					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3904C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907552	0.52333	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.99652	-6.3;-6.3;-6.3	4.75	-2.62	0.06152	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99783	4.775	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97388	0.9987	10	0.87932	D	0	.	15.3958	0.74790	0.0:0.0:0.4232:0.5768	.	1291;1302	F5CIQ9;O60840	.;CAC1F_HUMAN	W	1237;1291;1302	ENSP00000365427:R1237W;ENSP00000321618:R1291W;ENSP00000365441:R1302W	ENSP00000321618:R1291W	R	-	1	2	CACNA1F	48956142	0.997000	0.39634	0.949000	0.38748	0.974000	0.67602	0.274000	0.18680	-0.436000	0.07254	-0.307000	0.09154	CGG		0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	8	0	0	0	1	0	3	8				
PRPF8	10594	broad.mit.edu	37	17	1560049	1560049	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:1560049T>C	ENST00000572621.1	-	34	5777	c.5512A>G	c.(5512-5514)Aag>Gag	p.K1838E	PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1838	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTCTTCCACTTAGCCAACTTA	0.483																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5512-5514)Aag>Gag		pre-mRNA processing factor 8							39.0	35.0	36.0					17																	1560049		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1560049T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5512A>G	17.37:g.1560049T>C	ENSP00000460348:p.Lys1838Glu					PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E	p.K1838E			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	34	5777	-			1838			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5512A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.936321	0.92458	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.84298	-1.83	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95657	0.8712	10	0.87932	D	0	.	15.7141	0.77655	0.0:0.0:0.0:1.0	.	1838	Q6P2Q9	PRP8_HUMAN	E	1838;363	ENSP00000304350:K1838E	ENSP00000304350:K1838E	K	-	1	0	PRPF8	1506799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.112000	0.64535	0.533000	0.62120	AAG		0.483	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	29	0	0	0	1	0	4	29				
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr5:140531513G>A	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V559M(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.V559M(1)	lung(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1675-1677)Gtg>Atg									28.0	35.0	33.0					5																	140531513		2199	4296	6495	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531513G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1675G>A	5.37:g.140531513G>A	ENSP00000231136:p.Val559Met					PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	p.V559M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1675	+			559			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1675G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125280	0.56721	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.20738	2.05;2.05	4.19	4.19	0.49359	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.43700	0.1259	M	0.83953	2.67	0.30620	N	0.758587	D	0.89917	1.0	D	0.68192	0.956	T	0.50608	-0.8808	9	0.87932	D	0	.	5.8246	0.18546	0.0988:0.0:0.6498:0.2513	.	559	Q9Y5E3	PCDB6_HUMAN	M	423;559	ENSP00000438466:V423M;ENSP00000231136:V559M	ENSP00000231136:V559M	V	+	1	0	PCDHB6	140511697	0.109000	0.22037	1.000000	0.80357	0.994000	0.84299	0.604000	0.24164	2.047000	0.60756	0.556000	0.70494	GTG		0.721	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		96	79	0	0	0	1	0	96	79				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			53	58	0	0	0	1	0	53	58				
CA6	765	broad.mit.edu	37	1	9011714	9011714	+	Intron	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:9011714C>T	ENST00000377443.2	+	2	263				CA6_ENST00000377442.2_Intron|CA6_ENST00000480186.3_Silent_p.S164S|CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GGGCTTGCAGCGGCTCCCGCC	0.577																																						ENST00000319474.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(490-492)agC>agT		carbonic anhydrase VI							42.0	43.0	43.0					1																	9011714		876	1991	2867	SO:0001627	intron_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9011714C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.259+2213C>T	1.37:g.9011714C>T						CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron	p.S164S			P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	3	516	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	43					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.492C>T	CCDS30578.1																																																																																				0.577	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			17	26	0	0	0	1	0	17	26				
PTEN	5728	broad.mit.edu	37	10	89653846	89653846	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:89653846C>A	ENST00000371953.3	+	2	1501	c.144C>A	c.(142-144)aaC>aaA	p.N48K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	48	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAGGAACAATATTGATG	0.289		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.Y27fs*1(2)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033665	PTEN	M		c.(142-144)aaC>aaA		phosphatase and tensin homolog							109.0	109.0	109.0					10																	89653846		2203	4295	6498	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653846C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.144C>A	10.37:g.89653846C>A	ENSP00000361021:p.Asn48Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.N48K	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1501	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	48			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.144C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572618	0.86542	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99167	1.0863	9	.	.	.	-6.2602	11.0481	0.47870	0.0:0.9128:0.0:0.0872	.	48	P60484	PTEN_HUMAN	K	48	ENSP00000361021:N48K	.	N	+	3	2	PTEN	89643826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.421000	0.82119	0.655000	0.94253	AAC		0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	81	1	0	0.217242	1	0.217242	4	81				
ADCY8	114	broad.mit.edu	37	8	131861907	131861907	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:131861907G>A	ENST00000286355.5	-	10	4445	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					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)			ATGACGTTCCGGGCCAAATAG	0.468										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.(2353-2355)Cgg>Tgg		adenylate cyclase 8 (brain)							127.0	119.0	122.0					8																	131861907		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.chr8:131861907G>A	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.2353C>T	8.37:g.131861907G>A	ENSP00000286355:p.Arg785Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.R785W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	4445	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		785						Missense_Mutation	SNP	ENST00000286355.5	37	c.2353C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755090	0.69648	.	.	ENSG00000155897	ENST00000286355	T	0.57907	0.37	5.25	0.552	0.17230	.	0.112542	0.56097	D	0.000023	T	0.64940	0.2644	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67213	-0.5727	10	0.87932	D	0	.	13.87	0.63612	0.0:0.0:0.392:0.608	.	785	P40145	ADCY8_HUMAN	W	785	ENSP00000286355:R785W	ENSP00000286355:R785W	R	-	1	2	ADCY8	131931089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.410000	0.34691	0.147000	0.19030	-0.181000	0.13052	CGG		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			22	52	0	0	0	1	0	22	52				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	19	0	0	0	1	0	3	19				
PSPC1	55269	broad.mit.edu	37	13	20325485	20325485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr13:20325485C>T	ENST00000338910.4	-	4	1052	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	298	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTGGCTTCTCTGATGTTTCT	0.418																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(892-894)aGa>aAa		paraspeckle component 1							211.0	193.0	199.0					13																	20325485		1892	4110	6002	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20325485C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.893G>A	13.37:g.20325485C>T	ENSP00000343966:p.Arg298Lys						p.R298K	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	4	1052	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	298			Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.893G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	6.015	0.371181	0.11409	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.11495	2.77	4.83	4.83	0.62350	.	0.148213	0.56097	D	0.000040	T	0.05181	0.0138	N	0.10809	0.05	0.46774	D	0.999198	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	10	0.02654	T	1	-11.605	12.7326	0.57206	0.0:0.9201:0.0:0.0799	.	298	Q8WXF1	PSPC1_HUMAN	K	298;238	ENSP00000343966:R298K	ENSP00000343966:R298K	R	-	2	0	PSPC1	19223485	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.318000	0.43779	2.399000	0.81585	0.555000	0.69702	AGA		0.418	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			11	210	0	0	0	1	0	11	210				
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	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)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89.0	77.0	81.0					3																	41266124		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.chr3:41266124A>G	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.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		16	39	0	0	0	1	0	16	39				
ZC3H10	84872	broad.mit.edu	37	12	56515289	56515289	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56515289A>G	ENST00000257940.2	+	3	1219	c.943A>G	c.(943-945)Act>Gct	p.T315A	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	315							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GACTCACACTACTCTCAGCAG	0.597																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(943-945)Act>Gct		zinc finger CCCH-type containing 10							73.0	62.0	66.0					12																	56515289		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515289A>G	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.943A>G	12.37:g.56515289A>G	ENSP00000257940:p.Thr315Ala					RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.T315A	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1219	+			315						Missense_Mutation	SNP	ENST00000257940.2	37	c.943A>G	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.322890	0.41096	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	N	0.19112	0.55	0.80722	D	1	B	0.22080	0.064	B	0.23419	0.046	T	0.33214	-0.9877	9	0.34782	T	0.22	-17.7903	15.1007	0.72273	1.0:0.0:0.0:0.0	.	315	Q96K80	ZC3HA_HUMAN	A	315	.	ENSP00000257940:T315A	T	+	1	0	ZC3H10	54801556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.009000	0.93606	2.272000	0.75746	0.523000	0.50628	ACT		0.597	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		26	26	0	0	0	1	0	26	26				
PCLO	27445	broad.mit.edu	37	7	82544135	82544135	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:82544135C>T	ENST00000333891.9	-	7	13504	c.13167G>A	c.(13165-13167)agG>agA	p.R4389R	PCLO_ENST00000423517.2_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAACTGATCCCTGGTGTCTG	0.522																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13165-13167)agG>agA		piccolo presynaptic cytomatrix protein							88.0	91.0	90.0					7																	82544135		2052	4198	6250	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544135C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13167G>A	7.37:g.82544135C>T						PCLO_ENST00000333891.8_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	p.R4389R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13504	-			4320						Silent	SNP	ENST00000333891.9	37	c.13167G>A	CCDS47630.1																																																																																				0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		27	33	0	0	0	1	0	27	33				
DLGAP1	9229	broad.mit.edu	37	18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	rs113585667		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr18:3879237C>T	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	278					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGACCAGGCGCTCTTCTTC	0.652																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(832-834)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 1							56.0	53.0	54.0					18																	3879237		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879237C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.832G>A	18.37:g.3879237C>T	ENSP00000316377:p.Ala278Thr					DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T	p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1427	-		Colorectal(8;0.0257)	278					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.832G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212225	0.58452	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.14022	2.54;2.54	5.51	4.58	0.56647	.	0.184023	0.49305	D	0.000142	T	0.07683	0.0193	N	0.14661	0.345	0.37849	D	0.929314	B;P;B	0.45240	0.205;0.854;0.033	B;B;B	0.37144	0.038;0.242;0.011	T	0.27123	-1.0083	10	0.39692	T	0.17	-24.3113	11.6909	0.51514	0.3485:0.6515:0.0:0.0	.	278;278;278	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	T	278	ENSP00000316377:A278T;ENSP00000445973:A278T	ENSP00000316377:A278T	A	-	1	0	DLGAP1	3869237	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.347000	0.73004	2.605000	0.88082	0.655000	0.94253	GCC		0.652	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			43	44	0	0	0	1	0	43	44				
ACACA	31	broad.mit.edu	37	17	35470086	35470086	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:35470086C>A	ENST00000394406.2	-	51	6468	c.6278G>T	c.(6277-6279)tGg>tTg	p.W2093L	ACACA_ENST00000353139.5_Missense_Mutation_p.W2130L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000361253.5_Missense_Mutation_p.W219L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2093	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATCACCACCCAGGAGCCACC	0.557																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6388-6390)tGg>tTg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						72.0	65.0	67.0					17																	35470086		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35470086C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6278G>T	17.37:g.35470086C>A	ENSP00000377928:p.Trp2093Leu					ACACA_ENST00000394406.2_Missense_Mutation_p.W2093L|ACACA_ENST00000361253.5_Missense_Mutation_p.W219L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L	p.W2130L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			51	6870	-		Breast(25;0.00157)|Ovarian(249;0.15)	2093			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.6389G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553245	0.96501	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52	5.93	5.93	0.95920	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.98979	1.0804	10	0.87932	D	0	-8.1107	20.3539	0.98825	0.0:1.0:0.0:0.0	.	131;792;2130;2093;2035	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	L	2130;2035;2093;2117;2015;792;219	ENSP00000344789:W2130L;ENSP00000353898:W2035L;ENSP00000377928:W2093L;ENSP00000335323:W2015L;ENSP00000354565:W219L	ENSP00000335323:W2015L	W	-	2	0	ACACA	32544199	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG		0.557	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		26	42	1	0	5.45024e-15	1	6.04481e-15	26	42				
TRAK1	22906	broad.mit.edu	37	3	42230557	42230557	+	Missense_Mutation	SNP	G	G	A	rs371843104		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:42230557G>A	ENST00000327628.5	+	6	1031	c.631G>A	c.(631-633)Gat>Aat	p.D211N	TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	211	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTCATTTGGATTCTCTTCA	0.498																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(631-633)Gat>Aat		trafficking protein, kinesin binding 1							107.0	96.0	100.0					3																	42230557		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42230557G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.631G>A	3.37:g.42230557G>A	ENSP00000328998:p.Asp211Asn					TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N	p.D211N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			6	1031	+			211			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.631G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596097	0.96602	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D	0.89917	0.98;0.989;0.991;0.976;0.993;1.0	P;P;D;P;D;D	0.68765	0.721;0.871;0.912;0.6;0.928;0.96	T	0.40515	-0.9559	10	0.59425	D	0.04	.	18.6088	0.91276	0.0:0.0:1.0:0.0	.	137;153;211;153;137;211	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	N	211;211;137;153;153	ENSP00000328998:D211N;ENSP00000410717:D137N;ENSP00000379478:D153N;ENSP00000340702:D153N	ENSP00000328998:D211N	D	+	1	0	TRAK1	42205561	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.477000	0.81069	2.624000	0.88883	0.643000	0.83706	GAT		0.498	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		5	44	0	0	0	1	0	5	44				
DHTKD1	55526	broad.mit.edu	37	10	12131124	12131124	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:12131124A>G	ENST00000263035.4	+	5	919	c.857A>G	c.(856-858)aAt>aGt	p.N286S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	286					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGTTGCCCAATCCCTCGCAC	0.602																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(856-858)aAt>aGt		dehydrogenase E1 and transketolase domain containing 1							117.0	98.0	105.0					10																	12131124		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131124A>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.857A>G	10.37:g.12131124A>G	ENSP00000263035:p.Asn286Ser					DHTKD1_ENST00000465617.1_Intron	p.N286S	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	919	+		Renal(717;0.228)	286					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.857A>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.477138	0.63849	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.14144	2.53;2.53	5.43	5.43	0.79202	Dehydrogenase, E1 component (1);	0.040344	0.85682	D	0.000000	T	0.52821	0.1758	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70490	-0.4857	10	0.87932	D	0	-10.2582	15.4667	0.75406	1.0:0.0:0.0:0.0	.	286	Q96HY7	DHTK1_HUMAN	S	286;221	ENSP00000263035:N286S;ENSP00000388163:N221S	ENSP00000263035:N286S	N	+	2	0	DHTKD1	12171130	1.000000	0.71417	0.983000	0.44433	0.107000	0.19398	7.347000	0.79356	2.056000	0.61249	0.460000	0.39030	AAT		0.602	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		58	77	0	0	0	1	0	58	77				
MUC5B	727897	broad.mit.edu	37	11	1263453	1263453	+	Silent	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:1263453G>A	ENST00000529681.1	+	31	5401	c.5343G>A	c.(5341-5343)acG>acA	p.T1781T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T1784T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1781	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCAGGGCACGACCCGCTGTC	0.582																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5350-5352)acG>acA		mucin 5B, oligomeric mucus/gel-forming							50.0	59.0	56.0					11																	1263453		2159	4238	6397	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263453G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5343G>A	11.37:g.1263453G>A						MUC5B_ENST00000529681.1_Silent_p.T1781T	p.T1784T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5410	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1781			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.5352G>A	CCDS44515.2																																																																																				0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	85	0	0	0	1	0	7	85				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5																			2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu						p.G487E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	67	0	0	0	1	0	5	67				
CCDC39	339829	broad.mit.edu	37	3	180359980	180359980	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:180359980T>A	ENST00000442201.2	-	13	1794	c.1675A>T	c.(1675-1677)Ata>Tta	p.I559L	CCDC39_ENST00000273654.4_Missense_Mutation_p.I643L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	559					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGTCCTCTATCATCAAATCC	0.279																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1927-1929)Ata>Tta		coiled-coil domain containing 39							79.0	65.0	69.0					3																	180359980		1807	4073	5880	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359980T>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1675A>T	3.37:g.180359980T>A	ENSP00000405708:p.Ile559Leu					CCDC39_ENST00000442201.2_Missense_Mutation_p.I559L	p.I643L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2546	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		559					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1927A>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320410	0.60634	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22539	1.95;1.95	5.06	5.06	0.68205	.	0.111023	0.64402	D	0.000011	T	0.27697	0.0681	M	0.70595	2.14	0.29683	N	0.841546	P	0.48764	0.915	P	0.48952	0.596	T	0.13926	-1.0491	10	0.16896	T	0.51	-22.2569	7.8913	0.29680	0.0:0.1591:0.0:0.8408	.	559	Q9UFE4	CCD39_HUMAN	L	643;559	ENSP00000273654:I643L;ENSP00000405708:I559L	ENSP00000273654:I643L	I	-	1	0	CCDC39	181842674	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.379000	0.34340	2.033000	0.60031	0.472000	0.43445	ATA		0.279	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	14	0	0	0	1	0	7	14				
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408																																						ENST00000313599.3																			1	Substitution - Nonsense(1)	p.R771*(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2311-2313)Cga>Tga		CD163 molecule-like 1							72.0	72.0	72.0					12																	7531634		2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531634G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2311C>T	12.37:g.7531634G>A	ENSP00000315945:p.Arg771*					CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000544331.1_5'UTR	p.R771*			Q9NR16	C163B_HUMAN			9	2368	-			771			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.2311C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076743	0.94000	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	1.82	-1.31	0.09230	.	3.403600	0.01971	U	0.044106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6624	0.08244	0.1909:0.0:0.4673:0.3418	.	.	.	.	X	771;781;771	.	ENSP00000315945:R771X	R	-	1	2	CD163L1	7422901	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.284000	0.08422	-0.315000	0.08703	0.455000	0.32223	CGA		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		61	57	0	0	0	1	0	61	57				
HNRNPCL1	343069	broad.mit.edu	37	1	12907828	12907828	+	Silent	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:12907828G>A	ENST00000317869.6	-	2	540	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	105						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGAGGAGCCGTACATCTCCG	0.493																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(313-315)taC>taT		heterogeneous nuclear ribonucleoprotein C-like 1							117.0	111.0	113.0					1																	12907828		2203	4300	6503	SO:0001819	synonymous_variant	343069							g.chr1:12907828G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.315C>T	1.37:g.12907828G>A							p.Y105Y	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	540	-								B2RP44	Silent	SNP	ENST00000317869.6	37	c.315C>T	CCDS30591.1																																																																																				0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		45	104	0	0	0	1	0	45	104				
MROH5	389690	broad.mit.edu	37	8	142490102	142490102	+	RNA	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:142490102G>A	ENST00000430863.1	-	0	963					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGAAGGATTAGCCCATAGTAG	0.587																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							104.0	107.0	106.0					8																	142490102		2014	4192	6206			389690							g.chr8:142490102G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142490102G>A								NM_207414.2	NP_997297.2					0	963	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.587	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		9	19	0	0	0	1	0	9	19				
OR51Q1	390061	broad.mit.edu	37	11	5444079	5444079	+	Missense_Mutation	SNP	G	G	T	rs200365005		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:5444079G>T	ENST00000300778.4	+	1	739	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCATTGTGATCTCCTA	0.493																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(649-651)Gtg>Ttg		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							163.0	139.0	147.0					11																	5444079		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444079G>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.649G>T	11.37:g.5444079G>T	ENSP00000300778:p.Val217Leu					HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	p.V217L	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	739	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	217					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.649G>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.645282	0.00792	.	.	ENSG00000167360	ENST00000300778	T	0.00130	8.69	5.0	-0.678	0.11353	GPCR, rhodopsin-like superfamily (1);	0.922394	0.09096	N	0.849142	T	0.00073	0.0002	N	0.04132	-0.27	0.09310	N	1	B	0.16396	0.017	B	0.22386	0.039	T	0.25572	-1.0128	10	0.02654	T	1	.	1.9741	0.03412	0.221:0.2355:0.421:0.1225	.	217	Q8NH59	O51Q1_HUMAN	L	217	ENSP00000300778:V217L	ENSP00000300778:V217L	V	+	1	0	OR51Q1	5400655	0.000000	0.05858	0.233000	0.24025	0.380000	0.30137	-1.785000	0.01767	0.027000	0.15297	0.380000	0.24917	GTG		0.493	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	168	1	0	2.0095e-06	1	2.07762e-06	7	168				
OR5C1	392391	broad.mit.edu	37	9	125551979	125551979	+	Silent	SNP	C	C	T	rs534083874	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr9:125551979C>T	ENST00000373680.2	+	1	830	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCATGATGTACGGGACACTCA	0.602																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(766-768)taC>taT		olfactory receptor, family 5, subfamily C, member 1							96.0	80.0	85.0					9																	125551979		2203	4300	6503	SO:0001819	synonymous_variant	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551979C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.768C>T	9.37:g.125551979C>T							p.Y256Y	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	830	+			256					B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	c.768C>T	CCDS35131.1																																																																																				0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			4	124	0	0	0	1	0	4	124				
STXBP5L	9515	broad.mit.edu	37	3	120969598	120969598	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:120969598G>A	ENST00000273666.6	+	15	1700	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	477					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAATTTTGGGATGCTTCTGC	0.289																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1429-1431)Gat>Aat		syntaxin binding protein 5-like							56.0	53.0	54.0					3																	120969598		1794	4068	5862	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120969598G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1429G>A	3.37:g.120969598G>A	ENSP00000273666:p.Asp477Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N	p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	15	1700	+			477					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1429G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889190	0.91889	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.63	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40 repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.80183	2.485	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.62014	0.897;0.897	D	0.84025	0.0356	10	0.59425	D	0.04	-14.3536	17.6829	0.88249	0.0:0.0:1.0:0.0	.	477;477	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	477	ENSP00000273666:D477N;ENSP00000420019:D477N;ENSP00000419627:D477N;ENSP00000420287:D477N;ENSP00000420666:D477N;ENSP00000420167:D477N	ENSP00000273666:D477N	D	+	1	0	STXBP5L	122452288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.158000	0.94723	2.409000	0.81822	0.650000	0.86243	GAT		0.289	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			9	9	0	0	0	1	0	9	9				
PLD5	200150	broad.mit.edu	37	1	242383349	242383349	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:242383349C>T	ENST00000536534.2	-	5	917	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	PLD5_ENST00000427495.1_Missense_Mutation_p.V164M|PLD5_ENST00000442594.2_Missense_Mutation_p.V134M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	226	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTTTGTCCACGATCCAGAAG	0.527																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(400-402)Gtg>Atg		phospholipase D family, member 5							131.0	113.0	119.0					1																	242383349		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383349C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.676G>A	1.37:g.242383349C>T	ENSP00000440896:p.Val226Met					PLD5_ENST00000536534.1_Missense_Mutation_p.V226M|PLD5_ENST00000427495.1_Missense_Mutation_p.V164M	p.V134M	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		6	909	-	Melanoma(84;0.242)		226					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.400G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291359	0.80914	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.18810	2.19;2.19;2.19	5.52	4.6	0.57074	Phospholipase D/Transphosphatidylase (1);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.90814	3.15	0.50171	D	0.999857	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.65233	0.933;0.894;0.888	T	0.56306	-0.8001	10	0.72032	D	0.01	-6.4777	10.7734	0.46336	0.0:0.9091:0.0:0.0909	.	134;226;164	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	164;134;226	ENSP00000401285:V164M;ENSP00000414188:V134M;ENSP00000440896:V226M	ENSP00000401285:V164M	V	-	1	0	PLD5	240449972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	2.591000	0.87537	0.655000	0.94253	GTG		0.527	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		4	76	0	0	0	1	0	4	76				
KRT39	390792	broad.mit.edu	37	17	39119985	39119985	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39119985C>T	ENST00000355612.2	-	3	637	c.602G>A	c.(601-603)gGc>gAc	p.G201D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	201	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCTTGAGGCCATTGGCATC	0.502																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(601-603)gGc>gAc		keratin 39							138.0	123.0	128.0					17																	39119985		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39119985C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.602G>A	17.37:g.39119985C>T	ENSP00000347823:p.Gly201Asp					AC004231.2_ENST00000418393.1_RNA	p.G201D	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			3	637	-		Breast(137;0.00043)|Ovarian(249;0.15)	201			Coil 1B.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.602G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062791	0.55432	.	.	ENSG00000196859	ENST00000355612	D	0.88741	-2.42	5.54	3.49	0.39957	Filament (1);	0.602886	0.14982	N	0.287199	D	0.95758	0.8620	M	0.93854	3.465	0.32405	N	0.551457	D	0.76494	0.999	D	0.74023	0.982	D	0.96094	0.9064	10	0.87932	D	0	.	15.1846	0.72989	0.0:0.595:0.405:0.0	.	201	Q6A163	K1C39_HUMAN	D	201	ENSP00000347823:G201D	ENSP00000347823:G201D	G	-	2	0	KRT39	36373511	0.756000	0.28383	0.384000	0.26145	0.422000	0.31414	1.480000	0.35464	0.670000	0.31165	-0.181000	0.13052	GGC		0.502	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		4	101	0	0	0	1	0	4	101				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	104	0	0	0	1	0	5	104				
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2983-2985)gcG>gcA		WD repeat domain 72							207.0	192.0	197.0					15																	53889439		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889439C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2985G>A	15.37:g.53889439C>T						WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A	p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3224	-			995					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2985G>A	CCDS10151.1																																																																																				0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		72	106	0	0	0	1	0	72	106				
NTRK1	4914	broad.mit.edu	37	1	156848943	156848943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:156848943C>T	ENST00000524377.1	+	15	1876	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V|NTRK1_ENST00000368196.3_Missense_Mutation_p.A606V	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AAGCTGCTGGCTGGTGGGGAG	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1816-1818)gCt>gTt		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						28.0	30.0	29.0					1																	156848943		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156848943C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1835C>T	1.37:g.156848943C>T	ENSP00000431418:p.Ala612Val	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.A612V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V	p.A606V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			14	1937	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		612			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1817C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421135	0.25639	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.400354	0.20979	N	0.082249	T	0.68988	0.3061	N	0.25380	0.74	0.36172	D	0.848859	B;B;B;B	0.12013	0.001;0.001;0.004;0.005	B;B;B;B	0.14023	0.008;0.002;0.007;0.01	T	0.61628	-0.7024	10	0.15952	T	0.53	.	10.0302	0.42096	0.3056:0.6944:0.0:0.0	.	609;606;612;576	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	V	576;606;612;609	ENSP00000376120:A576V;ENSP00000357179:A606V;ENSP00000431418:A612V;ENSP00000351486:A609V	ENSP00000351486:A609V	A	+	2	0	NTRK1	155115567	0.191000	0.23288	1.000000	0.80357	0.952000	0.60782	0.872000	0.28037	2.432000	0.82394	0.561000	0.74099	GCT		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		14	31	0	0	0	1	0	14	31				
GSK3A	2931	broad.mit.edu	37	19	42738561	42738561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr19:42738561C>T	ENST00000222330.3	-	6	975	c.848G>A	c.(847-849)cGc>cAc	p.R283H	GSK3A_ENST00000398249.4_Missense_Mutation_p.R201H	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCGGTAGTAGCGAGAACAGAT	0.587																																						ENST00000398249.4																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(601-603)cGc>cAc		glycogen synthase kinase 3 alpha							102.0	93.0	96.0					19																	42738561		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42738561C>T		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.848G>A	19.37:g.42738561C>T	ENSP00000222330:p.Arg283His					GSK3A_ENST00000222330.3_Missense_Mutation_p.R283H	p.R201H			P49840	GSK3A_HUMAN			5	2315	-		Prostate(69;0.00682)	283			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.602G>A	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333166	0.81801	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.46451	0.87;0.87	4.67	3.64	0.41730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.072859	0.56097	N	0.000038	T	0.66752	0.2821	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.72381	-0.4311	10	0.87932	D	0	-23.9813	11.7904	0.52065	0.0:0.9123:0.0:0.0877	.	283;201	P49840;A8MT37	GSK3A_HUMAN;.	H	283;201;228	ENSP00000222330:R283H;ENSP00000381301:R201H	ENSP00000222330:R283H	R	-	2	0	GSK3A	47430401	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.137000	0.77295	1.101000	0.41535	0.313000	0.20887	CGC		0.587	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			5	91	0	0	0	1	0	5	91				
TNFRSF13B	23495	broad.mit.edu	37	17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:16843774G>A	ENST00000261652.2	-	4	509	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	166					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCCCCAGCGTGCTGTAGAC	0.642									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(358-360)aCg>aTg		tumor necrosis factor receptor superfamily, member 13B							54.0	44.0	47.0					17																	16843774		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843774G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.497C>T	17.37:g.16843774G>A	ENSP00000261652:p.Thr166Met					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.T166M	p.T120M			O14836	TR13B_HUMAN			3	367	-			166					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.359C>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146999	0.21288	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.92911	-3.13;-3.12	3.43	2.09	0.27110	.	0.517985	0.17227	N	0.182114	D	0.93318	0.7870	M	0.68952	2.095	0.23906	N	0.996503	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.912	D	0.84341	0.0527	10	0.72032	D	0.01	-21.4785	4.188	0.10407	0.2587:0.0:0.7413:0.0	.	120;166	O14836-2;O14836	.;TR13B_HUMAN	M	120;166	ENSP00000413453:T120M;ENSP00000261652:T166M	ENSP00000261652:T166M	T	-	2	0	TNFRSF13B	16784499	0.118000	0.22208	0.903000	0.35520	0.953000	0.61014	1.472000	0.35376	1.628000	0.50416	0.558000	0.71614	ACG		0.642	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			25	31	0	0	0	1	0	25	31				
PCYT2	5833	broad.mit.edu	37	17	79865686	79865686	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:79865686C>T	ENST00000538936.2	-	5	563	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	152					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CAGCAGCATGCGGCCCACGAG	0.652																																						ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(454-456)cGc>cAc		phosphate cytidylyltransferase 2, ethanolamine							77.0	59.0	65.0					17																	79865686		2203	4300	6503	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79865686C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.455G>A	17.37:g.79865686C>T	ENSP00000439245:p.Arg152His					PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H|PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H	p.R152H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	563	-	all_neural(118;0.0878)|Ovarian(332;0.12)		152			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.455G>A	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467064	0.96257	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.48	4.48	0.54585	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.99261	4.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94808	0.7976	9	0.62326	D	0.03	-28.9973	17.3427	0.87301	0.0:1.0:0.0:0.0	.	120;120;152;74;152	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	H	152;152;74	.	ENSP00000331719:R74H	R	-	2	0	PCYT2	77458978	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.463000	0.66712	2.303000	0.77524	0.655000	0.94253	CGC		0.652	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		4	61	0	0	0	1	0	4	61				
TRIM51HP	440041	broad.mit.edu	37	11	55065540	55065540	+	RNA	SNP	C	C	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:55065540C>A	ENST00000526016.1	-	0	168					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GTTCTTCAAACAAATGTCAGT	0.473																																						ENST00000526016.1																			0																																																			0							g.chr11:55065540C>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065540C>A								NR_038174.2						0	168	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.473	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			16	24	1	0	1.3612e-06	1	1.43161e-06	16	24				
UNC13C	440279	broad.mit.edu	37	15	54804028	54804028	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:54804028G>A	ENST00000260323.11	+	23	5457	c.5457G>A	c.(5455-5457)gaG>gaA	p.E1819E	UNC13C_ENST00000537900.1_Splice_Site_p.E1817E|UNC13C_ENST00000545554.1_Splice_Site_p.E1819E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGGAAGGAGGTGGGTATCT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.e23+1		unc-13 homolog C (C. elegans)							55.0	55.0	55.0					15																	54804028		1823	4104	5927	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54804028G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5457+1G>A	15.37:g.54804028G>A						UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice	p.E1819_splice			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5457	+			1819					Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5457_splice	CCDS45264.1																																																																																				0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Silent	7	8	0	0	0	1	0	7	8				
PROS1	5627	broad.mit.edu	37	3	93646150	93646150	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:93646150C>T	ENST00000394236.3	-	2	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	60	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CACAGTTCTTCGATGCATTCT	0.408																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CM971241	PROS1	M		c.(178-180)Gaa>Aaa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						110.0	106.0	107.0					3																	93646150		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646150C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.178G>A	3.37:g.93646150C>T	ENSP00000377783:p.Glu60Lys					PROS1_ENST00000407433.1_5'UTR	p.E60K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			2	494	-			60			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.178G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255722	0.95336	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99586	-6.23;-6.23	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.185695	0.46758	D	0.000266	D	0.99750	0.9900	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97061	0.9771	10	0.87932	D	0	.	17.4197	0.87511	0.0:1.0:0.0:0.0	.	60	P07225	PROS_HUMAN	K	60;92	ENSP00000377783:E60K;ENSP00000330021:E92K	ENSP00000330021:E92K	E	-	1	0	PROS1	95128840	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.004000	0.76317	2.513000	0.84729	0.448000	0.29417	GAA		0.408	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		32	36	0	0	0	1	0	32	36				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		4	16	0	0	0	1	0	4	16				
XIRP1	165904	broad.mit.edu	37	3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	rs371572701		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.R1193W(1)	endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3577-3579)Cgg>Tgg		xin actin-binding repeat containing 1		G	,TRP/ARG	0,4402		0,0,2201	21.0	25.0	24.0		,3577	-0.5	0.0	3		24	1,8599		0,1,4299	no	intron,missense	XIRP1	NM_001198621.1,NM_194293.2	,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1193/1844	39227360	1,13001	2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227360G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3577C>T	3.37:g.39227360G>A	ENSP00000343140:p.Arg1193Trp					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	p.R1193W	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3805	-			1193					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3577C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127172	0.20959	0.0	1.16E-4	ENSG00000168334	ENST00000340369	T	0.03745	3.82	4.57	-0.46	0.12175	.	0.830318	0.10387	N	0.680851	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46638	-0.9177	10	0.40728	T	0.16	.	7.4287	0.27115	0.518:0.0:0.482:0.0	.	1193	Q702N8	XIRP1_HUMAN	W	1193	ENSP00000343140:R1193W	ENSP00000343140:R1193W	R	-	1	2	XIRP1	39202364	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-0.345000	0.07770	-0.208000	0.10171	0.561000	0.74099	CGG		0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	52	0	0	0	1	0	5	52				
SIM1	6492	broad.mit.edu	37	6	100895289	100895289	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr6:100895289G>T	ENST00000369208.3	-	9	1635	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	SIM1_ENST00000262901.4_Missense_Mutation_p.L285M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	285	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCTTCACCAGCACTGACGGA	0.597																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(853-855)Ctg>Atg		single-minded family bHLH transcription factor 1							112.0	87.0	95.0					6																	100895289		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100895289G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.853C>A	6.37:g.100895289G>T	ENSP00000358210:p.Leu285Met					SIM1_ENST00000262901.4_Missense_Mutation_p.L285M	p.L285M			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1635	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	285			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.853C>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335528	0.81801	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.22539	1.95;1.95	6.02	5.14	0.70334	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.07139	-1.0788	10	0.66056	D	0.02	.	14.3925	0.66989	0.0713:0.0:0.9287:0.0	.	285	P81133	SIM1_HUMAN	M	285	ENSP00000358210:L285M;ENSP00000262901:L285M	ENSP00000262901:L285M	L	-	1	2	SIM1	101002010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.185000	0.58330	1.533000	0.49186	0.655000	0.94253	CTG		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		7	46	1	0	5.18039e-06	1	5.26673e-06	7	46				
TOE1	114034	broad.mit.edu	37	1	45808866	45808866	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:45808866G>C	ENST00000372090.5	+	8	1608	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.R262T|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	342						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CGACGACGTAGGGAAAAACGG	0.562																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(1024-1026)aGg>aCg		target of EGR1, member 1 (nuclear)							112.0	114.0	113.0					1																	45808866		2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808866G>C		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1025G>C	1.37:g.45808866G>C	ENSP00000361162:p.Arg342Thr					TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R262T	p.R342T	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			8	1608	+	Acute lymphoblastic leukemia(166;0.155)		342					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1025G>C	CCDS521.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216744	0.22373	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.35421	1.33;1.31	5.99	-1.56	0.08532	.	0.406625	0.28273	N	0.015941	T	0.28599	0.0708	L	0.55990	1.75	0.09310	N	1	P;P	0.36354	0.491;0.549	B;B	0.37780	0.258;0.174	T	0.15292	-1.0442	10	0.52906	T	0.07	-3.4576	6.3453	0.21345	0.4404:0.1205:0.4391:0.0	.	262;342	B4DEM6;Q96GM8	.;TOE1_HUMAN	T	342;262	ENSP00000361162:R342T;ENSP00000438900:R262T	ENSP00000361162:R342T	R	+	2	0	TOE1	45581453	0.267000	0.24122	0.001000	0.08648	0.488000	0.33401	0.389000	0.20751	-0.577000	0.05967	0.655000	0.94253	AGG		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		124	119	0	0	0	1	0	124	119				
ITGA7	3679	broad.mit.edu	37	12	56092320	56092320	+	Missense_Mutation	SNP	G	G	A	rs569613714	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56092320G>A	ENST00000555728.1	-	8	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ITGA7_ENST00000257880.7_Missense_Mutation_p.R391C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C			Q13683	ITA7_HUMAN	integrin, alpha 7	391					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTTGGCGCTCAAAGAAG	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		17903	0.001		0.0	False		,,,				2504	0.0031					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1171-1173)Cgc>Tgc		integrin, alpha 7							57.0	63.0	61.0					12																	56092320		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092320G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1171C>T	12.37:g.56092320G>A	ENSP00000452387:p.Arg391Cys					ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R391C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C	p.R391C			Q13683	ITA7_HUMAN			8	1390	-			391					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1171C>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.862234	0.91511	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.77557	0.961;0.953;0.961;0.99	D	0.89493	0.3758	10	0.87932	D	0	.	16.0142	0.80425	0.0:0.0:1.0:0.0	.	254;391;351;410	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	351;347;347;254;391;351;347;391;391	ENSP00000452120:R351C;ENSP00000257879:R347C;ENSP00000343009:R347C;ENSP00000393844:R254C;ENSP00000257880:R391C;ENSP00000377777:R351C;ENSP00000377776:R347C;ENSP00000452387:R391C	ENSP00000257879:R347C	R	-	1	0	ITGA7	54378587	0.538000	0.26394	1.000000	0.80357	0.997000	0.91878	1.169000	0.31871	2.456000	0.83038	0.561000	0.74099	CGC		0.612	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		47	62	0	0	0	1	0	47	62				
EIF4E2	9470	broad.mit.edu	37	2	233431668	233431668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr2:233431668G>C	ENST00000258416.3	+	5	1178	c.505G>C	c.(505-507)Gct>Cct	p.A169P	EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409514.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	169					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATCTGTGGGGCTGTGGTGTC	0.552																																						ENST00000409514.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(505-507)Gct>Cct		eukaryotic translation initiation factor 4E family member 2							100.0	100.0	100.0					2																	233431668		2203	4300	6503	SO:0001583	missense	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233431668G>C	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.505G>C	2.37:g.233431668G>C	ENSP00000258416:p.Ala169Pro					EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P	p.A169P			O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	5	547	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	169					B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.505G>C	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015591	0.93404	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.64	5.64	0.86602	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77557	0.983;0.99;0.977	D	0.84947	0.0869	10	0.87932	D	0	-18.7768	17.243	0.87019	0.0:0.0:1.0:0.0	.	124;169;169	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	P	169;169;169;169;124;124;124;164	ENSP00000258416:A169P;ENSP00000387336:A169P;ENSP00000386996:A169P;ENSP00000386876:A169P;ENSP00000387328:A124P;ENSP00000386424:A124P;ENSP00000386983:A124P;ENSP00000390904:A164P	ENSP00000258416:A169P	A	+	1	0	EIF4E2	233139912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	GCT		0.552	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		6	66	0	0	0	1	0	6	66				
INPP5J	27124	broad.mit.edu	37	22	31530082	31530082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr22:31530082C>T	ENST00000331075.5	+	13	2747	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	900	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCTTGCCCTACGGCCCTCATC	0.692																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2698-2700)Cgg>Tgg		inositol polyphosphate-5-phosphatase J							9.0	14.0	12.0					22																	31530082		1914	4058	5972	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31530082C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2698C>T	22.37:g.31530082C>T	ENSP00000333262:p.Arg900Trp					INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W|INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W	p.R900W			Q15735	PI5PA_HUMAN			13	2747	+			900			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2698C>T		.	.	.	.	.	.	.	.	.	.	C	18.60	3.659579	0.67586	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.98937	-4.68;-4.68;-5.25;-5.25;-5.24;-5.13;-4.09;-4.09	5.54	4.49	0.54785	.	0.250143	0.28104	N	0.016588	D	0.97464	0.9170	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.71674	0.998;0.978;0.998;0.987	P;B;P;P	0.53861	0.736;0.306;0.549;0.502	D	0.93455	0.6805	10	0.87932	D	0	.	15.446	0.75232	0.1394:0.8606:0.0:0.0	.	533;239;900;532	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	W	900;833;533;533;532;239;265;265	ENSP00000333262:R900W;ENSP00000392924:R833W;ENSP00000383150:R533W;ENSP00000384596:R533W;ENSP00000384534:R532W;ENSP00000385264:R239W;ENSP00000385343:R265W;ENSP00000384540:R265W	ENSP00000333262:R900W	R	+	1	2	INPP5J	29860082	0.952000	0.32445	0.886000	0.34754	0.972000	0.66771	2.747000	0.47475	2.610000	0.88304	0.655000	0.94253	CGG		0.692	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		4	4	0	0	0	1	0	4	4				
CASZ1	54897	broad.mit.edu	37	1	10713951	10713952	+	Frame_Shift_Ins	INS	-	-	CTGGACTCCT			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:10713951_10713952insCTGGACTCCT	ENST00000377022.3	-	11	2479_2480	c.2162_2163insAGGAGTCCAG	c.(2161-2163)agcfs	p.S721fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.S721fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	721					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCGTCGTTGCTGGACTCCTC	0.683																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2161-2163)aaafs		castor zinc finger 1																																				SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713951_10713952insCTGGACTCCT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2153_2162dupAGGAGTCCAG	1.37:g.10713952_10713961dupCTGGACTCCT	ENSP00000366221:p.Ser721fs					CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.-721fs|RP4-734G22.3_ENST00000606802.1_RNA	p.-721fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2479_2480	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)						Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	c.2162_2163insAGGAGTCCAG	CCDS41246.1																																																																																				0.683	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		14	75						14	75	---	---	---	---
ANKRD36C	400986	broad.mit.edu	37	2	96517462	96517462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr2:96517462delT	ENST00000456556.1	-	66	5377	c.5293delA	c.(5293-5295)atcfs	p.I1765fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Del_p.I792fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Del_p.I1016fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1765							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TGCTGCAGGATTTTCTCAAAC	0.313																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(5293-5295)tcfs		ankyrin repeat domain 36C																																				SO:0001589	frameshift_variant	400986							g.chr2:96517462delT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.5293delA	2.37:g.96517462delT	ENSP00000403302:p.Ile1765fs					ANKRD36C_ENST00000420871.2_Frame_Shift_Del_p.I1016fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Del_p.I792fs	p.I1765fs							66	5377	-								C9JZ08|Q15694|Q53S06|Q658V2	Frame_Shift_Del	DEL	ENST00000456556.1	37	c.5293delA																																																																																					0.313	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		2	4						2	4	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	5						3	5	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs139373828|rs535526044	byFrequency	TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTGTATAAGTATATATATATT	0.287														1478	0.295128	0.3759	0.3314	5008	,	,		16713	0.1518		0.2207	False		,,,				2504	0.3845					ENST00000356347.3																			0																																																			0							g.chr4:247254_247255delTA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247262_247263delTA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.287	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		5	3						5	3	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs3884114		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:100345610_100345611insAA	ENST00000348028.3	+	0	1188				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345610_100345611insAA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345619_100345620dupAA						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1171	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	3						3	3	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	52834614	52834614	+	Intron	DEL	C	C	-			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:52834614delC	ENST00000401604.2	+	2	460				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Frame_Shift_Del_p.I88fs			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTCGACATCCAGGATCTCA	0.687																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(262-264)atfs		protein kinase, cGMP-dependent, type I							174.0	124.0	141.0					10																	52834614		2203	4299	6502	SO:0001627	intron_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52834614delC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.267-78310C>-	10.37:g.52834614delC						PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	p.I88fs	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	1	681	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	74			Dimerization.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Frame_Shift_Del	DEL	ENST00000401604.2	37	c.264delC	CCDS44399.1																																																																																				0.687	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	25						13	25	---	---	---	---
RP11-51L5.5	0	broad.mit.edu	37	17	60368314	60368315	+	RNA	INS	-	-	T			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:60368314_60368315insT	ENST00000602493.1	-	0	273																											AGGAGGAAATGTTTTTGTTATT	0.287																																						ENST00000602493.1																			0																																																			0							g.chr17:60368314_60368315insT																													17.37:g.60368319_60368319dupT														0	273	-									RNA	INS	ENST00000602493.1	37																																																																																						0.287	RP11-51L5.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467668.1			6	7						6	7	---	---	---	---
