#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
ELMSAN1	91748	broad.mit.edu	37	14	74188154	74188154	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:74188154C>A	ENST00000286523.5	-	11	3565	c.2783G>T	c.(2782-2784)aGg>aTg	p.R928M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	928					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGCTCCAGCCTCTCTTCACT	0.587																																						ENST00000286523.5																			0											c.(2782-2784)aGg>aTg		ELM2 and Myb/SANT-like domain containing 1							62.0	60.0	61.0					14																	74188154		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74188154C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2783G>T	14.37:g.74188154C>A	ENSP00000286523:p.Arg928Met					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M	p.R928M	NM_194278.3	NP_919254.2					11	3565	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.2783G>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082042	0.55861	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.88	4.88	0.63580	.	0.315716	0.26126	N	0.026196	T	0.23649	0.0572	N	0.08118	0	0.38392	D	0.94543	D;D	0.55385	0.971;0.971	P;P	0.49561	0.615;0.615	T	0.16335	-1.0406	10	0.49607	T	0.09	-19.6068	13.5206	0.61566	0.0:1.0:0.0:0.0	.	928;928	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	928	ENSP00000377634:R928M;ENSP00000286523:R928M;ENSP00000407767:R928M;ENSP00000402380:R928M	ENSP00000286523:R928M	R	-	2	0	C14orf43	73257907	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	3.549000	0.53681	2.255000	0.74692	0.555000	0.69702	AGG		0.587	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		12	12	1	0	3.07112e-06	1	3.19908e-06	12	12				
IL5RA	3568	broad.mit.edu	37	3	3146598	3146598	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:3146598G>A	ENST00000446632.2	-	3	645	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	24					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTTCATCAGGAAGTAAGTC	0.343																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(70-72)cCt>cTt		interleukin 5 receptor, alpha							96.0	94.0	95.0					3																	3146598		2203	4300	6503	SO:0001583	missense	0				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3146598G>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.71C>T	3.37:g.3146598G>A	ENSP00000412209:p.Pro24Leu					IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L	p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	3	645	-			24					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.71C>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300242	0.23650	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.87103	-2.21;-2.12;-2.21;1.31;1.59;1.32;1.32;1.32;1.32;1.58	5.6	2.64	0.31445	.	1.078910	0.07163	N	0.851068	D	0.83686	0.5308	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B;B	0.29432	0.016;0.01;0.01;0.006;0.244;0.126	B;B;B;B;B;B	0.25506	0.007;0.016;0.016;0.007;0.061;0.015	T	0.70733	-0.4791	10	0.33940	T	0.23	-3.2806	5.7578	0.18182	0.0893:0.0:0.5629:0.3478	.	24;24;24;24;24;24	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	L	24	ENSP00000412209:P24L;ENSP00000390753:P24L;ENSP00000256452:P24L;ENSP00000388858:P24L;ENSP00000402598:P24L;ENSP00000373358:P24L;ENSP00000309196:P24L;ENSP00000400400:P24L;ENSP00000392059:P24L;ENSP00000398117:P24L	ENSP00000256452:P24L	P	-	2	0	IL5RA	3121598	0.030000	0.19436	0.011000	0.14972	0.024000	0.10985	1.253000	0.32886	1.470000	0.48102	0.650000	0.86243	CCT		0.343	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			29	65	0	0	0	1	0	29	65				
TIAM2	26230	broad.mit.edu	37	6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1522-1524)cGg>cAg		T-cell lymphoma invasion and metastasis 2							65.0	70.0	68.0					6																	155458639		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458639G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1523G>A	6.37:g.155458639G>A	ENSP00000437188:p.Arg508Gln					TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q	p.R508Q			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2796	+		Ovarian(120;0.196)	508			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1523G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737056	0.96865	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.84890	0.0836	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	508;508	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	508;754;508;508;508;508;508	ENSP00000437188:R508Q;ENSP00000434901:R508Q;ENSP00000407746:R508Q;ENSP00000327315:R508Q;ENSP00000353528:R508Q;ENSP00000433348:R508Q	ENSP00000327315:R508Q	R	+	2	0	TIAM2	155500331	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGG		0.542	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		3	70	0	0	0	1	0	3	70				
ABCB5	340273	broad.mit.edu	37	7	20685472	20685472	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:20685472G>A	ENST00000404938.2	+	8	1424	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000258738.6_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	258	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACAGTCATAGCCTTTAGGGC	0.408																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(772-774)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							151.0	140.0	144.0					7																	20685472		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685472G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.772G>A	7.37:g.20685472G>A	ENSP00000384881:p.Ala258Thr						p.A258T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			8	1424	+			444			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.772G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915337	0.73098	.	.	ENSG00000004846	ENST00000404938	D	0.91843	-2.92	4.79	2.97	0.34412	.	.	.	.	.	D	0.93943	0.8061	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92467	0.5982	9	0.54805	T	0.06	.	8.017	0.30387	0.0848:0.0:0.7559:0.1593	.	258	A7BKA4	.	T	258	ENSP00000384881:A258T	ENSP00000384881:A258T	A	+	1	0	ABCB5	20651997	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	5.824000	0.69279	0.920000	0.36970	0.655000	0.94253	GCC		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		48	49	0	0	0	1	0	48	49				
FAM103A1	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	NM_031452.3	NP_113640.1	Q9BTL3	RAM_HUMAN	family with sequence similarity 103, member A1	32	Interaction with RNMT.				7-methylguanosine mRNA capping (GO:0006370)|methylation (GO:0032259)|recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex (GO:0036031)	mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.001	False		,,,				2504	0.0					ENST00000304191.3																			0				prostate(1)	1						c.(94-96)cGc>cAc		family with sequence similarity 103, member A1		G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	49.0	51.0	50.0		411,95	2.7	1.0	15	dbSNP_134	50	22,8572	14.6+/-50.1	0,22,4275	no	coding-synonymous,missense	FAM103A1,C15orf40	NM_001160116.1,NM_031452.2	,29	0,23,6476	AA,AG,GG		0.256,0.0227,0.177	,benign	137/150,32/119	83657865	23,12975	2202	4297	6499	SO:0001583	missense	83640							g.chr15:83657865G>A	CR597724	CCDS10321.1	15q25.2	2012-06-13			ENSG00000169612	ENSG00000169612			31022	protein-coding gene	gene with protein product	"""RNMT-activating mini protein"""	614547				22099306	Standard	NM_031452		Approved	HsT19360, C15orf18, MGC2560, RAM	uc002bjl.2	Q9BTL3	OTTHUMG00000147357	ENST00000304191.3:c.95G>A	15.37:g.83657865G>A	ENSP00000307181:p.Arg32His					C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	p.R32H	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN			3	316	+			32					Q2M1J8	Missense_Mutation	SNP	ENST00000304191.3	37	c.95G>A	CCDS10321.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.24	2.773689	0.49786	2.27E-4	0.00256	ENSG00000169612	ENST00000304191	.	.	.	5.71	2.72	0.32119	.	0.058637	0.64402	D	0.000001	T	0.45458	0.1343	L	0.48362	1.52	0.80722	D	1	B	0.31100	0.308	B	0.26202	0.067	T	0.41161	-0.9524	9	0.52906	T	0.07	-2.2431	8.2725	0.31853	0.1376:0.0:0.7362:0.1263	.	32	Q9BTL3	F103A_HUMAN	H	32	.	ENSP00000307181:R32H	R	+	2	0	FAM103A1	81448869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.913000	0.56394	0.728000	0.32382	0.655000	0.94253	CGC		0.428	FAM103A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304001.1	NM_031452		35	25	0	0	0	1	0	35	25				
CHD2	1106	broad.mit.edu	37	15	93522490	93522490	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:93522490G>A	ENST00000394196.4	+	22	3921	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	CHD2_ENST00000557381.1_Silent_p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	951					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACGATCCTGGAAAACAACT	0.458																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2851-2853)ctG>ctA		chromodomain helicase DNA binding protein 2							130.0	125.0	127.0					15																	93522490		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93522490G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2853G>A	15.37:g.93522490G>A						CHD2_ENST00000557381.1_Silent_p.L951L	p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		22	3921	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		951					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.2853G>A	CCDS10374.2																																																																																				0.458	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	121	0	0	0	1	0	4	121				
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		106	Substitution - Missense(106)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)	haematopoietic_and_lymphoid_tissue(66)|skin(24)|large_intestine(6)|stomach(4)|thyroid(2)|soft_tissue(1)|urinary_tract(1)|autonomic_ganglia(1)|NS(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(37-39)Ggt>Cgt		neuroblastoma RAS viral (v-ras) oncogene homolog							207.0	184.0	192.0					1																	115258745		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115258745C>G	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.37G>C	1.37:g.115258745C>G	ENSP00000358548:p.Gly13Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.G13R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	290	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	13		G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.37G>C	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675403	0.96764	.	.	ENSG00000213281	ENST00000369535	T	0.73575	-0.76	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	D	0.85204	0.5643	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.85665	0.1291	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	R	13	ENSP00000358548:G13R	ENSP00000358548:G13R	G	-	1	0	NRAS	115060268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	71	0	0	0	1	0	55	71				
MDC1	9656	broad.mit.edu	37	6	30673766	30673766	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:30673766G>A	ENST00000376406.3	-	10	3841	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	MDC1_ENST00000376405.2_Missense_Mutation_p.P801L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1065	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAAAGAAGGGGCGGAGGTGC	0.547								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3193-3195)cCc>cTc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							107.0	118.0	114.0					6																	30673766		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673766G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3194C>T	6.37:g.30673766G>A	ENSP00000365588:p.Pro1065Leu					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P801L	p.P1065L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	3841	-			1065	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3194C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	g	16.34	3.096185	0.56075	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02737	4.3;4.18	4.71	1.89	0.25635	.	0.726145	0.11375	N	0.570393	T	0.01523	0.0049	L	0.27053	0.805	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.59056	0.851;0.738	T	0.48422	-0.9037	10	0.15066	T	0.55	0.5111	6.8484	0.24000	0.3012:0.0:0.6988:0.0	.	801;1065	Q14676-2;Q14676	.;MDC1_HUMAN	L	1065;801;1065;672	ENSP00000365588:P1065L;ENSP00000365587:P801L	ENSP00000365587:P801L	P	-	2	0	MDC1	30781745	0.003000	0.15002	0.104000	0.21259	0.242000	0.25591	1.071000	0.30666	0.606000	0.29965	0.444000	0.29173	CCC		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		73	97	0	0	0	1	0	73	97				
CYP51A1	1595	broad.mit.edu	37	7	91747893	91747893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:91747893C>A	ENST00000003100.8	-	8	1288	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	369					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTTAATGTTTCTTTTATACAG	0.353																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1123-1125)Gaa>Taa		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						124.0	125.0	124.0					7																	91747893		2203	4299	6502	SO:0001587	stop_gained	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91747893C>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1123G>T	7.37:g.91747893C>A	ENSP00000003100:p.Glu375*					CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*|LRRD1_ENST00000422722.1_5'UTR	p.E375*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1288	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		369					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Nonsense_Mutation	SNP	ENST00000003100.8	37	c.1123G>T	CCDS5623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.701936|4.701936	0.88924|0.88924	.|.	.|.	ENSG00000001630|ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723|ENST00000422867	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74550	.|0.3731	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73861	.|-0.3849	.|4	0.87932|.	D|.	0|.	.|.	18.6928|18.6928	0.91589|0.91589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	375;315;270|115	.|.	ENSP00000003100:E375X|.	E|R	-|-	1|2	0|0	CYP51A1|CYP51A1	91585829|91585829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.583000|7.583000	0.82559|0.82559	2.468000|2.468000	0.83385|0.83385	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.353	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			45	56	1	0	2.81731e-22	1	2.97603e-22	45	56				
EP400	57634	broad.mit.edu	37	12	132551995	132551995	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132551995C>T	ENST00000333577.4	+	51	9055	c.8946C>T	c.(8944-8946)ccC>ccT	p.P2982P	EP400_ENST00000330386.6_Silent_p.P2865P|EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000389562.2_Silent_p.P2945P|EP400_ENST00000389561.2_Silent_p.P2946P			Q96L91	EP400_HUMAN	E1A binding protein p400	2982					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATCCAGCCCCAGGCTGCAC	0.652																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8944-8946)ccC>ccT		E1A binding protein p400							44.0	51.0	49.0					12																	132551995		2202	4297	6499	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551995C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8946C>T	12.37:g.132551995C>T						EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P|EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P	p.P2982P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	51	9055	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2982					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8946C>T																																																																																					0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	57	0	0	0	1	0	7	57				
C6orf222	389384	broad.mit.edu	37	6	36297863	36297863	+	Missense_Mutation	SNP	C	C	T	rs140939742	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:36297863C>T	ENST00000437635.2	-	2	782	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCACCCCTGCGAGCTGGGCC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		15492	0.002		0.0	False		,,,				2504	0.0					ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(604-606)cGc>cAc		chromosome 6 open reading frame 222							54.0	54.0	54.0					6																	36297863		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36297863C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.605G>A	6.37:g.36297863C>T	ENSP00000418983:p.Arg202His						p.R202H	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	782	-			202					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.605G>A	CCDS34439.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	6.716	0.500824	0.12822	.	.	ENSG00000189325	ENST00000437635	T	0.43294	0.95	4.35	-2.72	0.05968	.	1.683590	0.03348	N	0.195779	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11792	-1.0573	10	0.19590	T	0.45	-40.4977	1.8305	0.03129	0.1222:0.3918:0.1581:0.3279	.	202	P0C671	CF222_HUMAN	H	202	ENSP00000418983:R202H	ENSP00000418983:R202H	R	-	2	0	C6orf222	36405841	0.000000	0.05858	0.001000	0.08648	0.206000	0.24218	-1.632000	0.02024	-0.340000	0.08388	-0.497000	0.04613	CGC		0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		4	91	0	0	0	1	0	4	91				
CCDC144A	9720	broad.mit.edu	37	17	16610781	16610781	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:16610781A>G	ENST00000360524.8	+	4	740		c.e4-1		CCDC144A_ENST00000443444.2_Splice_Site|RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000340621.5_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000436374.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGGATTTTGCAGCAGAACAAG	0.313																																						ENST00000443444.2																			0											c.e4-1		coiled-coil domain containing 144A							58.0	51.0	53.0					17																	16610781		1829	4088	5917	SO:0001630	splice_region_variant	9720							g.chr17:16610781A>G	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.665-1A>G	17.37:g.16610781A>G						RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000436374.1_Splice_Site				A2RUR9	C144A_HUMAN			4	804	+								O60311|Q6ZU57	Splice_Site	SNP	ENST00000360524.8	37		CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.100	-0.406271	0.04832	.	.	ENSG00000170160	ENST00000420937;ENST00000399273;ENST00000436374;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.25586	N	0.986741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4477	0.16546	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC144A	16551506	0.298000	0.24417	0.024000	0.17045	0.025000	0.11179	3.195000	0.51013	0.789000	0.33779	0.147000	0.16070	.		0.313	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		Intron	17	15	0	0	0	1	0	17	15				
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	rs567589026		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(208-210)Gca>Aca		MAS-related GPR, member X1							130.0	129.0	130.0					11																	18956124		2194	4285	6479	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956124C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.208G>A	11.37:g.18956124C>T	ENSP00000305766:p.Ala70Thr					MRGPRX1_ENST00000526914.1_5'UTR	p.A70T	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	432	-			70					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.208G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.762028	0.15914	.	.	ENSG00000170255	ENST00000302797	T	0.19938	2.11	2.43	-2.54	0.06307	GPCR, rhodopsin-like superfamily (1);	2.339570	0.01866	N	0.036909	T	0.28995	0.0720	M	0.80422	2.495	0.09310	N	1	P	0.44260	0.83	B	0.42386	0.386	T	0.34976	-0.9807	10	0.52906	T	0.07	.	5.023	0.14370	0.0:0.3685:0.2965:0.335	.	70	Q96LB2	MRGX1_HUMAN	T	70	ENSP00000305766:A70T	ENSP00000305766:A70T	A	-	1	0	MRGPRX1	18912700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.096000	0.03046	-1.579000	0.00862	GCA		0.532	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		50	106	0	0	0	1	0	50	106				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8.0	11.0	10.0					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	34	0	0	0	1	0	3	34				
PANX3	116337	broad.mit.edu	37	11	124489721	124489721	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:124489721A>G	ENST00000284288.2	+	4	1136	c.1069A>G	c.(1069-1071)Acc>Gcc	p.T357A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	357					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GGATACAACCACCCAGAAGCA	0.433																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(1069-1071)Acc>Gcc		pannexin 3							143.0	124.0	131.0					11																	124489721		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489721A>G	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1069A>G	11.37:g.124489721A>G	ENSP00000284288:p.Thr357Ala						p.T357A	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1136	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	357						Missense_Mutation	SNP	ENST00000284288.2	37	c.1069A>G	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	8.801	0.932871	0.18131	.	.	ENSG00000154143	ENST00000284288	T	0.16597	2.33	5.4	1.63	0.23807	.	0.795369	0.11914	N	0.517318	T	0.04861	0.0131	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.08837	T	0.75	-3.5034	4.8	0.13292	0.5487:0.1566:0.2947:0.0	.	357	Q96QZ0	PANX3_HUMAN	A	357	ENSP00000284288:T357A	ENSP00000284288:T357A	T	+	1	0	PANX3	123994931	0.000000	0.05858	0.778000	0.31720	0.875000	0.50365	-0.011000	0.12721	0.370000	0.24538	0.459000	0.35465	ACC		0.433	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			46	65	0	0	0	1	0	46	65				
MUC16	94025	broad.mit.edu	37	19	8973984	8973984	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:8973984G>A	ENST00000397910.4	-	76	42890	c.42687C>T	c.(42685-42687)gaC>gaT	p.D14229D	MUC16_ENST00000380951.5_Silent_p.D870D|MUC16_ENST00000596956.1_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14292				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTGGATGTCCCTCAGCA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42685-42687)gaC>gaT		mucin 16, cell surface associated							107.0	110.0	109.0					19																	8973984		1995	4162	6157	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8973984G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42687C>T	19.37:g.8973984G>A						MUC16_ENST00000380951.5_Silent_p.D870D	p.D14229D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42890	-			14292	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.42687C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	1.659	-0.512057	0.04200	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.46	3.42	0.39159	.	.	.	.	.	T	0.49047	0.1534	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58115	-0.7693	3	.	.	.	.	8.4565	0.32901	0.1079:0.0:0.8921:0.0	.	.	.	.	I	1052	.	.	T	-	2	0	MUC16	8834984	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.030000	0.41108	1.240000	0.43803	0.609000	0.83330	ACA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	6	0	0	0	1	0	3	6				
SLC26A4	5172	broad.mit.edu	37	7	107312617	107312617	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:107312617C>T	ENST00000265715.3	+	4	563	c.339C>T	c.(337-339)gtC>gtT	p.V113V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	113					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGTTCCTGTCGGATATGGTC	0.378									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(337-339)gtC>gtT		solute carrier family 26 (anion exchanger), member 4							270.0	223.0	239.0					7																	107312617		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107312617C>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.339C>T	7.37:g.107312617C>T							p.V113V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			4	563	+			113					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.339C>T	CCDS5746.1																																																																																				0.378	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		97	67	0	0	0	1	0	97	67				
MICAL2	9645	broad.mit.edu	37	11	12231056	12231056	+	Missense_Mutation	SNP	G	G	A	rs527945154		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:12231056G>A	ENST00000256194.4	+	6	890	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	201	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTGGCTGGCGGGCAGAATTT	0.507																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(601-603)cGg>cAg		microtubule associated monooxygenase, calponin and LIM domain containing 2							120.0	121.0	120.0					11																	12231056		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231056G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.602G>A	11.37:g.12231056G>A	ENSP00000256194:p.Arg201Gln					MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q	p.R201Q	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	890	+			201					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.602G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558655	0.96514	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.84156	2.68	0.58432	D	0.999999	D;D;D;D;P	0.89917	1.0;1.0;0.998;1.0;0.916	D;D;P;P;B	0.81914	0.971;0.995;0.567;0.908;0.315	D	0.97814	1.0252	10	0.87932	D	0	.	18.7472	0.91797	0.0:0.0:1.0:0.0	.	201;201;201;201;201	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	Q	201	ENSP00000441689:R201Q;ENSP00000256194:R201Q;ENSP00000433965:R201Q;ENSP00000344894:R201Q;ENSP00000368932:R201Q	ENSP00000256194:R201Q	R	+	2	0	MICAL2	12187632	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.786000	0.85741	2.755000	0.94549	0.557000	0.71058	CGG		0.507	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		38	15	0	0	0	1	0	38	15				
FKBP10	60681	broad.mit.edu	37	17	39969425	39969425	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39969425G>A	ENST00000321562.4	+	1	243	c.139G>A	c.(139-141)Gag>Aag	p.E47K	LEPREL4_ENST00000393928.1_5'Flank|LEPREL4_ENST00000355468.3_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	47					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGTGGTCATCGAGAGGTACCA	0.642																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(139-141)Gag>Aag		FK506 binding protein 10, 65 kDa							54.0	58.0	57.0					17																	39969425		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969425G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.139G>A	17.37:g.39969425G>A	ENSP00000317232:p.Glu47Lys						p.E47K	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	243	+		Breast(137;0.00122)	47					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.139G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202845	0.79127	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.50001	0.76	5.4	5.4	0.78164	.	0.147182	0.42682	D	0.000676	T	0.38427	0.1040	L	0.50333	1.59	0.80722	D	1	P	0.40875	0.731	B	0.28011	0.085	T	0.30621	-0.9972	10	0.16896	T	0.51	-15.1973	18.7916	0.91975	0.0:0.0:1.0:0.0	.	47	Q96AY3	FKB10_HUMAN	K	47	ENSP00000317232:E47K	ENSP00000269598:E47K	E	+	1	0	FKBP10	37222951	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.610000	0.82949	2.533000	0.85409	0.561000	0.74099	GAG		0.642	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		48	52	0	0	0	1	0	48	52				
PRX	57716	broad.mit.edu	37	19	40902215	40902215	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:40902215C>T	ENST00000324001.7	-	7	2314	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	682	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCACCTCGGGGAGTCGA	0.582																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2044-2046)Gag>Aag		periaxin							86.0	97.0	94.0					19																	40902215		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902215C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2044G>A	19.37:g.40902215C>T	ENSP00000326018:p.Glu682Lys					PRX_ENST00000291825.7_3'UTR	p.E682K	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2314	-			682			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2044G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575839	0.45902	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02121	4.44	4.09	3.06	0.35304	.	0.000000	0.40385	N	0.001114	T	0.01905	0.0060	L	0.41824	1.3	0.80722	D	1	P	0.37594	0.601	B	0.26517	0.07	T	0.62567	-0.6827	10	0.41790	T	0.15	-16.0737	8.5728	0.33581	0.0:0.8086:0.0:0.1913	.	682	Q9BXM0	PRAX_HUMAN	K	682	ENSP00000326018:E682K	ENSP00000326018:E682K	E	-	1	0	PRX	45594055	0.001000	0.12720	0.705000	0.30386	0.986000	0.74619	0.158000	0.16422	1.110000	0.41699	-0.143000	0.13931	GAG		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		59	130	0	0	0	1	0	59	130				
B3GNT7	93010	broad.mit.edu	37	2	232263162	232263162	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:232263162C>T	ENST00000287590.5	+	2	993	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	244					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATGACGTCTTCGTCAACCCCA	0.567																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(730-732)ttC>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							72.0	77.0	76.0					2																	232263162		2097	4204	6301	SO:0001819	synonymous_variant	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263162C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.732C>T	2.37:g.232263162C>T							p.F244F	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	993	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	244					B3KWY4|B7WNP0	Silent	SNP	ENST00000287590.5	37	c.732C>T	CCDS46540.1																																																																																				0.567	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		5	62	0	0	0	1	0	5	62				
USP54	159195	broad.mit.edu	37	10	75294484	75294484	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:75294484T>C	ENST00000339859.4	-	11	1289	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	USP54_ENST00000319786.7_Missense_Mutation_p.T397A|USP54_ENST00000428547.1_Missense_Mutation_p.T247A|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	397					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGCTCTCCGTTGAGGAATCT	0.463																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(1189-1191)Acg>Gcg		ubiquitin specific peptidase 54							161.0	152.0	155.0					10																	75294484		1921	4134	6055	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75294484T>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1189A>G	10.37:g.75294484T>C	ENSP00000345216:p.Thr397Ala					USP54_ENST00000319786.7_Missense_Mutation_p.T397A|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000428547.1_Missense_Mutation_p.T247A	p.T397A			Q70EL1	UBP54_HUMAN			11	1289	-	Prostate(51;0.0112)		397					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1189A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042535	0.75732	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.25414	1.83;1.83;1.8	5.39	4.27	0.50696	.	.	.	.	.	T	0.17874	0.0429	L	0.38175	1.15	0.34516	D	0.7076	B;B;B	0.18968	0.007;0.005;0.032	B;B;B	0.17722	0.007;0.007;0.019	T	0.16335	-1.0406	9	0.07482	T	0.82	-3.4455	10.8774	0.46919	0.0:0.0734:0.0:0.9266	.	397;397;397	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	A	397;397;247;397	ENSP00000345216:T397A;ENSP00000386080:T397A;ENSP00000408714:T247A	ENSP00000326547:T397A	T	-	1	0	USP54	74964490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.159000	0.71856	0.913000	0.36797	0.529000	0.55759	ACG		0.463	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		15	41	0	0	0	1	0	15	41				
SYCE1	93426	broad.mit.edu	37	10	135369378	135369378	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:135369378C>T	ENST00000343131.5	-	10	729	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M|SYCE1_ENST00000368517.3_Missense_Mutation_p.V173M	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGATGCTTCACGTCTTCCAGT	0.597																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(517-519)Gtg>Atg		synaptonemal complex central element protein 1							87.0	81.0	83.0					10																	135369378		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369378C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.625G>A	10.37:g.135369378C>T	ENSP00000341282:p.Val209Met					SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M	p.V173M	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	10	655	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	209					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.517G>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	c	11.73	1.725375	0.30593	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.49432	0.92;0.78;0.78;3.15	4.38	3.49	0.39957	.	0.442422	0.21540	N	0.072920	T	0.62551	0.2437	M	0.65975	2.015	0.20563	N	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.973;0.998;0.998	T	0.51276	-0.8726	10	0.62326	D	0.03	-19.8919	8.6618	0.34097	0.0:0.8978:0.0:0.1022	.	81;209;173	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	M	209;173;173;209	ENSP00000303978:V209M;ENSP00000411779:V173M;ENSP00000357503:V173M;ENSP00000341282:V209M	ENSP00000303978:V209M	V	-	1	0	SYCE1	135219368	0.594000	0.26849	0.832000	0.32986	0.018000	0.09664	0.743000	0.26231	1.459000	0.47892	-0.119000	0.15052	GTG		0.597	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		8	11	0	0	0	1	0	8	11				
TAAR2	9287	broad.mit.edu	37	6	132938561	132938561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:132938561T>A	ENST00000367931.1	-	2	783	c.784A>T	c.(784-786)Aaa>Taa	p.K262*	TAAR2_ENST00000275191.2_Nonsense_Mutation_p.K217*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	262					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTAAAGTTTTGGCAGCTTTT	0.328																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(649-651)Aaa>Taa		trace amine associated receptor 2							57.0	47.0	51.0					6																	132938561		2203	4300	6503	SO:0001587	stop_gained	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938561T>A	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.784A>T	6.37:g.132938561T>A	ENSP00000356908:p.Lys262*					TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*|TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262*	p.K217*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	756	-	Breast(56;0.135)		262					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP	ENST00000367931.1	37	c.649A>T	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	T	37	6.302159	0.97458	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	.	.	.	6.1	6.1	0.99115	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.709	16.686	0.85306	0.0:0.0:0.0:1.0	.	.	.	.	X	217;262;217	.	ENSP00000275191:K217X	K	-	1	0	TAAR2	132980254	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.210000	0.72176	2.340000	0.79590	0.528000	0.53228	AAA		0.328	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		12	63	0	0	0	1	0	12	63				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	6	0	0	0	1	0	67	6				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	46	1	0	1.02016e-41	1	1.09302e-41	60	46				
LRRC66	339977	broad.mit.edu	37	4	52861983	52861983	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:52861983T>A	ENST00000343457.3	-	4	1211	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	402						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACAGTCTGTCAACATAAGG	0.562																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1204-1206)gAc>gTc		leucine rich repeat containing 66							70.0	72.0	72.0					4																	52861983		1980	4158	6138	SO:0001583	missense	339977					integral to membrane		g.chr4:52861983T>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1205A>T	4.37:g.52861983T>A	ENSP00000341944:p.Asp402Val						p.D402V	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1211	-			402						Missense_Mutation	SNP	ENST00000343457.3	37	c.1205A>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018748	0.35606	.	.	ENSG00000188993	ENST00000343457	T	0.55234	0.53	4.67	4.67	0.58626	.	0.000000	0.46145	D	0.000313	T	0.65863	0.2732	M	0.63843	1.955	0.49483	D	0.999797	D	0.76494	0.999	D	0.74023	0.982	T	0.68629	-0.5358	10	0.87932	D	0	-26.2144	8.7923	0.34859	0.0:0.0:0.1901:0.8099	.	402	Q68CR7	LRC66_HUMAN	V	402	ENSP00000341944:D402V	ENSP00000341944:D402V	D	-	2	0	LRRC66	52556740	0.331000	0.24713	0.990000	0.47175	0.005000	0.04900	1.117000	0.31234	1.870000	0.54199	0.383000	0.25322	GAC		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		10	68	0	0	0	1	0	10	68				
PCDHA8	56140	broad.mit.edu	37	5	140222719	140222719	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:140222719G>A	ENST00000531613.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAACGCGTGGCTTTC	0.677																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1813-1815)Gcg>Acg									82.0	81.0	82.0					5																	140222719		2197	4268	6465	SO:0001583	missense	0							g.chr5:140222719G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1813G>A	5.37:g.140222719G>A	ENSP00000434655:p.Ala605Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A605T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1813	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1813G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709354	0.68615	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.22134	1.97;1.97	3.75	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.58850	0.2151	H	0.96604	3.85	0.32470	N	0.542978	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.77416	-0.2596	10	0.87932	D	0	.	12.6566	0.56791	0.0:0.0:0.8343:0.1657	.	605;605	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	605	ENSP00000434655:A605T;ENSP00000367363:A605T	ENSP00000367363:A605T	A	+	1	0	PCDHA8	140202903	0.926000	0.31397	0.988000	0.46212	0.208000	0.24298	3.345000	0.52182	1.793000	0.52555	0.313000	0.20887	GCG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		31	46	0	0	0	1	0	31	46				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	21	0	0	0	1	0	3	21				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	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			4	55	0	0	0	1	0	4	55				
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	G	rs200968626		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:5564756A>G	ENST00000344408.5	-	22	3799	c.3746T>C	c.(3745-3747)aTt>aCt	p.I1249T	EVC2_ENST00000310917.2_Missense_Mutation_p.I1169T|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		17428	0.001		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3505-3507)aTt>aCt		Ellis van Creveld syndrome 2							128.0	136.0	133.0					4																	5564756		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564756A>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3746T>C	4.37:g.5564756A>G	ENSP00000342144:p.Ile1249Thr					EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron	p.I1169T	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4237	-			1249					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3506T>C	CCDS3382.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	5.367	0.252994	0.10185	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74315	-0.82;-0.83	5.17	1.07	0.20283	.	0.632498	0.15662	N	0.250867	T	0.44286	0.1286	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.28459	-1.0043	10	0.05620	T	0.96	-0.0661	2.1295	0.03747	0.5914:0.163:0.0889:0.1567	.	1249	Q86UK5	LBN_HUMAN	T	1169;1249	ENSP00000311683:I1169T;ENSP00000342144:I1249T	ENSP00000311683:I1169T	I	-	2	0	EVC2	5615657	0.001000	0.12720	0.003000	0.11579	0.974000	0.67602	1.411000	0.34702	0.292000	0.22492	0.460000	0.39030	ATT		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		38	142	0	0	0	1	0	38	142				
CRHR2	1395	broad.mit.edu	37	7	30693147	30693147	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:30693147G>A	ENST00000471646.1	-	12	1582	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	389					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R375R(1)|p.R389R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGGCCCGGGCCATGGGG	0.657																																						ENST00000471646.1																			2	Substitution - coding silent(2)	p.R375R(1)|p.R389R(1)	large_intestine(2)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1165-1167)Cgg>Tgg		corticotropin releasing hormone receptor 2							155.0	139.0	144.0					7																	30693147		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693147G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1165C>T	7.37:g.30693147G>A	ENSP00000418722:p.Arg389Trp					CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000506074.2_3'UTR	p.R389W	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1582	-			389					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1165C>T	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699689	0.68501	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46451	0.87;1.01;0.88	4.49	2.58	0.30949	.	0.210998	0.40064	N	0.001196	T	0.60130	0.2245	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	P;D;D;P	0.70487	0.901;0.969;0.944;0.88	T	0.59268	-0.7486	10	0.72032	D	0.01	.	7.4062	0.26991	0.093:0.0:0.7298:0.1772	.	388;416;375;389	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	W	389;416;375	ENSP00000418722:R389W;ENSP00000340943:R416W;ENSP00000344304:R375W	ENSP00000344304:R375W	R	-	1	2	CRHR2	30659672	0.992000	0.36948	0.968000	0.41197	0.925000	0.55904	2.415000	0.44635	0.377000	0.24735	0.467000	0.42956	CGG		0.657	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			15	103	0	0	0	1	0	15	103				
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(487-489)cGc>cAc		kinesin family member 2B							56.0	60.0	59.0					17																	51900882		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900882G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.488G>A	17.37:g.51900882G>A	ENSP00000268919:p.Arg163His						p.R163H	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	644	+			163					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.488G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047774	0.75846	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.79352	-1.26	5.52	5.52	0.82312	.	0.140402	0.29152	N	0.012982	T	0.81054	0.4743	L	0.58810	1.83	0.40800	D	0.983339	D	0.64830	0.994	P	0.53062	0.717	T	0.82950	-0.0203	10	0.66056	D	0.02	.	12.7587	0.57350	0.0801:0.0:0.9198:0.0	.	163	Q8N4N8	KIF2B_HUMAN	H	163;86	ENSP00000268919:R163H	ENSP00000268919:R163H	R	+	2	0	KIF2B	49255881	0.630000	0.27155	0.995000	0.50966	0.815000	0.46073	3.824000	0.55723	2.739000	0.93911	0.655000	0.94253	CGC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		22	59	0	0	0	1	0	22	59				
FAT2	2196	broad.mit.edu	37	5	150946625	150946625	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:150946625C>T	ENST00000261800.5	-	1	1880	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATAAAAGGGCGTTTGAGGGA	0.403																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1867-1869)cGc>cAc		FAT atypical cadherin 2							104.0	106.0	105.0					5																	150946625		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946625C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1868G>A	5.37:g.150946625C>T	ENSP00000261800:p.Arg623His						p.R623H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1880	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	623			Cadherin 5.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1868G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117192	0.20795	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.127249	0.39759	N	0.001277	T	0.64638	0.2616	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.62609	-0.6818	10	0.41790	T	0.15	.	5.4328	0.16463	0.1553:0.6372:0.1324:0.0751	.	623	Q9NYQ8	FAT2_HUMAN	H	623	ENSP00000261800:R623H	ENSP00000261800:R623H	R	-	2	0	FAT2	150926818	0.349000	0.24870	0.190000	0.23270	0.413000	0.31143	1.633000	0.37113	2.793000	0.96121	0.655000	0.94253	CGC		0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		33	46	0	0	0	1	0	33	46				
CD1D	912	broad.mit.edu	37	1	158151456	158151456	+	Silent	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:158151456T>C	ENST00000368171.3	+	3	772	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	91					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCGGGTTTATCGAAGCAGCT	0.572																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(271-273)taT>taC		CD1d molecule							60.0	63.0	62.0					1																	158151456		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151456T>C	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.273T>C	1.37:g.158151456T>C							p.Y91Y	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	772	+	all_hematologic(112;0.0378)		91					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.273T>C	CCDS1173.1																																																																																				0.572	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		33	35	0	0	0	1	0	33	35				
CAMKV	79012	broad.mit.edu	37	3	49899533	49899533	+	Missense_Mutation	SNP	G	G	A	rs200718388	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:49899533G>A	ENST00000477224.1	-	3	650	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGCCGTCCCGCTTCTGGAAC	0.592																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(172-174)Cgg>Tgg		CaM kinase-like vesicle-associated							77.0	81.0	79.0					3																	49899533		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899533G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.172C>T	3.37:g.49899533G>A	ENSP00000419195:p.Arg58Trp					CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W	p.R58W			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	650	-			58			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.172C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602350	0.66445	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000466940	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.05	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38778	N	0.001566	T	0.79464	0.4450	M	0.73430	2.235	0.50039	D	0.999841	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;D	0.72338	0.977;0.903;0.971;0.938	T	0.81658	-0.0833	10	0.87932	D	0	.	12.4184	0.55506	0.0:0.0:0.6725:0.3275	.	58;58;58;58	E7ETR1;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;CAMKV_HUMAN	W	58	ENSP00000296471:R58W;ENSP00000418809:R58W;ENSP00000417614:R58W;ENSP00000419195:R58W;ENSP00000420724:R58W	ENSP00000296471:R58W	R	-	1	2	CAMKV	49874537	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.371000	0.52379	2.522000	0.85027	0.455000	0.32223	CGG		0.592	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		3	17	0	0	0	1	0	3	17				
SLC4A9	83697	broad.mit.edu	37	5	139740529	139740529	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:139740529C>T	ENST00000230993.6	+	2	470	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000506545.1_Silent_p.C121C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	145					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACTGCCCAGCTCAGA	0.657																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(433-435)tgC>tgT		solute carrier family 4, sodium bicarbonate cotransporter, member 9							11.0	13.0	12.0					5																	139740529		1927	4123	6050	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139740529C>T	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.435C>T	5.37:g.139740529C>T						SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C	p.C145C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	470	+			145					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.435C>T	CCDS58973.1																																																																																				0.657	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		7	4	0	0	0	1	0	7	4				
PDE4B	5142	broad.mit.edu	37	1	66384510	66384510	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:66384510C>G	ENST00000329654.4	+	3	460	c.273C>G	c.(271-273)agC>agG	p.S91R	PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	91					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CAACTGTAAGCCAGGAGTGGT	0.398																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(271-273)agC>agG		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						87.0	84.0	85.0					1																	66384510		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384510C>G	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.273C>G	1.37:g.66384510C>G	ENSP00000332116:p.Ser91Arg					PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			3	460	+			91					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.273C>G	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310072	0.23821	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17054	2.3;2.3;2.3	5.6	5.6	0.85130	.	0.770400	0.12655	N	0.450132	T	0.05090	0.0136	N	0.19112	0.55	0.29818	N	0.831081	B	0.09022	0.002	B	0.11329	0.006	T	0.28332	-1.0047	10	0.25106	T	0.35	.	13.8546	0.63519	0.0:0.8468:0.1532:0.0	.	91	Q07343	PDE4B_HUMAN	R	91	ENSP00000332116:S91R;ENSP00000342637:S91R;ENSP00000360088:S91R	ENSP00000332116:S91R	S	+	3	2	PDE4B	66157098	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.996000	0.40776	2.626000	0.88956	0.650000	0.86243	AGC		0.398	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		16	42	0	0	0	1	0	16	42				
PRRC2A	7916	broad.mit.edu	37	6	31604007	31604007	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:31604007C>T	ENST00000376033.2	+	26	5880	c.5646C>T	c.(5644-5646)ccC>ccT	p.P1882P	PRRC2A_ENST00000376007.4_Silent_p.P1882P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1882						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TATACCTACCCCCCGGCCCAG	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5644-5646)ccC>ccT		proline-rich coiled-coil 2A							109.0	147.0	134.0					6																	31604007		1506	2708	4214	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604007C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5646C>T	6.37:g.31604007C>T						PRRC2A_ENST00000376007.4_Silent_p.P1882P	p.P1882P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5880	+			1882					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.5646C>T	CCDS4708.1																																																																																				0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		73	71	0	0	0	1	0	73	71				
EDARADD	128178	broad.mit.edu	37	1	236645901	236645901	+	Silent	SNP	C	C	T	rs74942492	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:236645901C>T	ENST00000334232.4	+	6	767	c.600C>T	c.(598-600)gaC>gaT	p.D200D	EDARADD_ENST00000359362.5_Silent_p.D190D	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	200	Death.				cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTGGGTGGACGAGGAGTGGC	0.602													C|||	3	0.000599042	0.0	0.0	5008	,	,		17295	0.003		0.0	False		,,,				2504	0.0					ENST00000359362.5																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(568-570)gaC>gaT		EDAR-associated death domain		C	,	0,4404		0,0,2202	64.0	73.0	70.0		570,600	-10.9	0.1	1	dbSNP_132	70	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	EDARADD	NM_080738.3,NM_145861.2	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	190/206,200/216	236645901	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645901C>T	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.600C>T	1.37:g.236645901C>T						EDARADD_ENST00000334232.4_Silent_p.D200D	p.D190D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	784	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	200			Death.		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Silent	SNP	ENST00000334232.4	37	c.570C>T	CCDS1610.1																																																																																				0.602	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		51	51	0	0	0	1	0	51	51				
CDH17	1015	broad.mit.edu	37	8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493																																						ENST00000027335.3																			1	Substitution - Nonsense(1)	p.R123*(1)	ovary(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(367-369)Cga>Tga		cadherin 17, LI cadherin (liver-intestine)							255.0	214.0	228.0					8																	95188826		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95188826G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.367C>T	8.37:g.95188826G>A	ENSP00000027335:p.Arg123*					CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*	p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	491	-	Breast(36;4.65e-06)		123			Cadherin 1.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.367C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102552	0.56183	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	.	.	.	5.93	4.08	0.47627	.	0.399497	0.19197	N	0.120300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.2735	14.2229	0.65839	0.0:0.0:0.7275:0.2725	.	.	.	.	X	123	.	ENSP00000027335:R123X	R	-	1	2	CDH17	95258002	0.712000	0.27916	0.831000	0.32960	0.020000	0.10135	1.568000	0.36418	0.792000	0.33850	-0.182000	0.12963	CGA		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		34	54	0	0	0	1	0	34	54				
CACNA1G	8913	broad.mit.edu	37	17	48703992	48703992	+	Silent	SNP	C	C	T	rs367861396		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:48703992C>T	ENST00000359106.5	+	38	7014	c.7014C>T	c.(7012-7014)agC>agT	p.S2338S	CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000352832.5_Silent_p.S2211S|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000503485.1_Silent_p.S2211S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507336.1_Silent_p.S2327S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000507609.1_Silent_p.S2238S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		14669	0.0		0.0	False		,,,				2504	0.0					ENST00000352832.5																			3	Substitution - Missense(3)	p.S2338R(2)|p.S2304R(1)	kidney(3)	breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6631-6633)agC>agT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	C	,,,,,,,,,,,,,	2,3878		0,2,1938	29.0	35.0	33.0		7014,6396,6945,6702,6777,6846,6666,6801,6735,6879,6681,6633,6612,6912	0.6	1.0	17		33	0,8240		0,0,4120	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	0,2,6058	TT,TC,CC		0.0,0.0515,0.0165	,,,,,,,,,,,,,	2338/2378,2132/2172,2315/2355,2234/2274,2259/2299,2282/2322,2222/2262,2267/2307,2245/2285,2293/2333,2227/2267,2211/2251,2204/2244,2304/2344	48703992	2,12118	1940	4120	6060	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703992C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.7014C>T	17.37:g.48703992C>T			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000503485.1_Silent_p.S2211S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507336.1_Silent_p.S2327S	p.S2211S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	7005	+	Breast(11;6.7e-17)		2338					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.6633C>T	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		7	25	0	0	0	1	0	7	25				
CPSF3L	54973	broad.mit.edu	37	1	1250944	1250944	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:1250944C>G	ENST00000435064.1	-	5	566	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A168P|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	162					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAACATGGCTGCCCCCAGC	0.607																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(502-504)Gcc>Ccc		cleavage and polyadenylation specific factor 3-like							116.0	98.0	104.0					1																	1250944		2203	4299	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250944C>G	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.484G>C	1.37:g.1250944C>G	ENSP00000413493:p.Ala162Pro					CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P	p.A168P	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	7	957	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	162					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.502G>C	CCDS21.1	.	.	.	.	.	.	.	.	.	.	c	36	5.894080	0.97074	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000545578;ENST00000526332;ENST00000527719;ENST00000530031	T;T;T;T;T;T;T	0.80033	0.25;0.25;0.25;-1.33;0.41;-1.33;-1.33	4.74	4.74	0.60224	Beta-lactamase-like (2);	0.236415	0.42682	D	0.000674	D	0.93377	0.7888	H	0.97214	3.96	0.80722	D	1	D;D;B;B	0.89917	0.999;1.0;0.206;0.245	D;D;B;B	0.80764	0.987;0.994;0.224;0.075	D	0.94939	0.8089	10	0.48119	T	0.1	-40.5341	17.919	0.88960	0.0:1.0:0.0:0.0	.	64;61;168;162	C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	P	162;64;61;168;133;38;168;209	ENSP00000413493:A162P;ENSP00000404886:A61P;ENSP00000445001:A168P;ENSP00000444672:A133P;ENSP00000434790:A38P;ENSP00000436743:A168P;ENSP00000432009:A209P	ENSP00000400548:A64P	A	-	1	0	CPSF3L	1240807	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.310000	0.78947	2.441000	0.82636	0.457000	0.33378	GCC		0.607	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		4	78	0	0	0	1	0	4	78				
PARD6B	84612	broad.mit.edu	37	20	49366587	49366587	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:49366587C>T	ENST00000371610.2	+	3	924	c.681C>T	c.(679-681)agC>agT	p.S227S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	227	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAGGGAAGAGCCTTGATCAAG	0.428																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(679-681)agC>agT		par-6 family cell polarity regulator beta							115.0	109.0	111.0					20																	49366587		2203	4300	6503	SO:0001819	synonymous_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366587C>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.681C>T	20.37:g.49366587C>T						PARD6B_ENST00000396039.1_Intron	p.S227S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			3	924	+			227			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	c.681C>T	CCDS33485.1																																																																																				0.428	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		45	63	0	0	0	1	0	45	63				
MGAT1	4245	broad.mit.edu	37	5	180219007	180219007	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:180219007C>T	ENST00000446023.2	-	3	1715	c.965G>A	c.(964-966)gGg>gAg	p.G322E	MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	322					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGAACTGCCCGTGGCTCAC	0.602																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(964-966)gGg>gAg		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							75.0	82.0	79.0					5																	180219007		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219007C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.965G>A	5.37:g.180219007C>T	ENSP00000404718:p.Gly322Glu					MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E	p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1715	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	322					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.965G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730523	0.69074	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.05	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94629	0.7820	10	0.87932	D	0	-35.5149	11.6246	0.51138	0.0:0.9118:0.0:0.0882	.	322	P26572	MGAT1_HUMAN	E	322;322;322;322;179;322	ENSP00000332073:G322E;ENSP00000311888:G322E;ENSP00000404718:G322E;ENSP00000377010:G322E;ENSP00000402838:G322E	ENSP00000311888:G322E	G	-	2	0	MGAT1	180151613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.996000	0.76263	1.264000	0.44198	-0.140000	0.14226	GGG		0.602	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		15	48	0	0	0	1	0	15	48				
SLC8A2	6543	broad.mit.edu	37	19	47944425	47944425	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:47944425C>T	ENST00000236877.6	-	6	2281		c.e6+1		SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACTTCACTCACCTTGATTGAG	0.577																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.e6+1		solute carrier family 8 (sodium/calcium exchanger), member 2							80.0	79.0	79.0					19																	47944425		2203	4300	6503	SO:0001630	splice_region_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47944425C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1885+1G>A	19.37:g.47944425C>T						SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site		NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	6	2281	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)						B4DYQ9	Splice_Site	SNP	ENST00000236877.6	37		CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166740	0.57476	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1601	0.37016	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC8A2	52636237	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.291000	0.59025	1.864000	0.54056	0.299000	0.19835	.		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		Intron	18	61	0	0	0	1	0	18	61				
BRINP1	1620	broad.mit.edu	37	9	121929632	121929632	+	Silent	SNP	T	T	C			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:121929632T>C	ENST00000265922.3	-	8	2477	c.2016A>G	c.(2014-2016)gcA>gcG	p.A672A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	672					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.A672A(1)									CCTGCTGCACTGCACTGCGCA	0.542																																						ENST00000265922.3																			1	Substitution - coding silent(1)	p.A672A(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2014-2016)gcA>gcG									167.0	155.0	159.0					9																	121929632		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929632T>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2016A>G	9.37:g.121929632T>C						DBC1_ENST00000482797.1_Intron	p.A672A	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2477	-			672					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.2016A>G	CCDS6822.1																																																																																				0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		54	92	0	0	0	1	0	54	92				
AUTS2	26053	broad.mit.edu	37	7	69364317	69364317	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:69364317A>G	ENST00000342771.4	+	2	676	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A|AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAACGCCAGACGCCCCTGAC	0.483																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(355-357)Acg>Gcg		autism susceptibility candidate 2							100.0	91.0	94.0					7																	69364317		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364317A>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.355A>G	7.37:g.69364317A>G	ENSP00000344087:p.Thr119Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A|AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A	p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	676	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	119					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.355A>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112586	0.56398	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.28895	1.59;1.59	5.65	4.47	0.54385	.	0.208514	0.33401	N	0.004947	T	0.13072	0.0317	N	0.08118	0	0.21105	N	0.999782	B;B;P	0.42692	0.019;0.019;0.787	B;B;B	0.36134	0.033;0.033;0.218	T	0.08868	-1.0701	9	.	.	.	-9.4281	8.0038	0.30313	0.7922:0.1382:0.0697:0.0	.	119;119;119	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	A	119	ENSP00000385263:T119A;ENSP00000344087:T119A	.	T	+	1	0	AUTS2	69002253	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.574000	0.53863	1.119000	0.41883	0.533000	0.62120	ACG		0.483	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			30	27	0	0	0	1	0	30	27				
GLIS3	169792	broad.mit.edu	37	9	4118146	4118146	+	Silent	SNP	G	G	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:4118146G>T	ENST00000324333.10	-	3	1060	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GLIS3_ENST00000381971.3_Silent_p.P444P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	289	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gaggcgcggggggTAGGTCTA	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(865-867)ccC>ccA		GLIS family zinc finger 3							6.0	8.0	8.0					9																	4118146		1727	3520	5247	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118146G>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.867C>A	9.37:g.4118146G>T						GLIS3_ENST00000381971.3_Silent_p.P444P	p.P289P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1060	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	289			Pro-rich.		B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.867C>A	CCDS6451.1																																																																																				0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		9	0	1	0	2.17888e-05	1	2.23857e-05	9	0				
C2orf71	388939	broad.mit.edu	37	2	29295877	29295877	+	Silent	SNP	A	A	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:29295877A>G	ENST00000331664.5	-	1	1250	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	417					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCATAGGAGCCCCTGAGA	0.582																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1249-1251)gcT>gcC		chromosome 2 open reading frame 71							85.0	87.0	86.0					2																	29295877		1992	4158	6150	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295877A>G		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1251T>C	2.37:g.29295877A>G							p.A417A	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1250	-			417						Silent	SNP	ENST00000331664.5	37	c.1251T>C	CCDS42669.1																																																																																				0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		34	59	0	0	0	1	0	34	59				
MYH6	4624	broad.mit.edu	37	14	23857416	23857416	+	Missense_Mutation	SNP	C	C	T	rs142556730		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:23857416C>T	ENST00000356287.3	-	29	4336	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1436H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1436					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCATTGGAGCGCTCTACGTC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19277	0.001		0.0	False		,,,				2504	0.0					ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4306-4308)cGc>cAc		myosin, heavy chain 6, cardiac muscle, alpha		C	HIS/ARG	0,4406		0,0,2203	152.0	145.0	147.0		4307	4.6	1.0	14	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1436/1940	23857416	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857416C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4307G>A	14.37:g.23857416C>T	ENSP00000348634:p.Arg1436His					MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H	p.R1436H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	30	4377	-	all_cancers(95;2.54e-05)		1436					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4307G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	32	5.181215	0.94846	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83992	-1.79;-1.79	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.91747	0.7390	M	0.86028	2.79	0.58432	D	0.999997	D	0.71674	0.998	D	0.71414	0.973	D	0.93329	0.6699	9	0.87932	D	0	.	17.8925	0.88877	0.0:1.0:0.0:0.0	.	1436	P13533	MYH6_HUMAN	H	1436	ENSP00000386041:R1436H;ENSP00000348634:R1436H	ENSP00000348634:R1436H	R	-	2	0	MYH6	22927256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.500000	0.81588	2.292000	0.77174	0.561000	0.74099	CGC		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			20	92	0	0	0	1	0	20	92				
ARHGAP6	395	broad.mit.edu	37	X	11157235	11157235	+	Silent	SNP	C	C	T			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:11157235C>T	ENST00000337414.4	-	13	3545	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	891					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCCGCTGCCGCGGGCTTCC	0.701																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2671-2673)gcG>gcA		Rho GTPase activating protein 6							7.0	7.0	7.0					X																	11157235		1916	3830	5746	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157235C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2673G>A	X.37:g.11157235C>T						ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	p.A891A	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3545	-			891					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2673G>A	CCDS14140.1																																																																																				0.701	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		6	11	0	0	0	1	0	6	11				
EP400	57634	broad.mit.edu	37	12	132547099	132547099	+	Silent	SNP	G	G	A	rs145603866		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132547099G>A	ENST00000333577.4	+	48	8404	c.8295G>A	c.(8293-8295)caG>caA	p.Q2765Q	EP400_ENST00000330386.6_Silent_p.Q2648Q|EP400_ENST00000332482.4_Silent_p.Q2692Q|EP400_ENST00000389562.2_Silent_p.Q2728Q|EP400_ENST00000389561.2_Silent_p.Q2729Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2765	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		aacaacagcagcagcagcagc	0.577																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8293-8295)caG>caA		E1A binding protein p400							23.0	28.0	26.0					12																	132547099		2139	4139	6278	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547099G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8295G>A	12.37:g.132547099G>A						EP400_ENST00000332482.4_Silent_p.Q2692Q|EP400_ENST00000330386.6_Silent_p.Q2648Q|EP400_ENST00000389561.2_Silent_p.Q2729Q|EP400_ENST00000389562.2_Silent_p.Q2728Q	p.Q2765Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8404	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2765			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8295G>A																																																																																					0.577	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	49	0	0	0	1	0	4	49				
CDCP1	64866	broad.mit.edu	37	3	45127296	45127296	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:45127296C>G	ENST00000296129.1	-	9	2479	c.2345G>C	c.(2344-2346)aGg>aCg	p.R782T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	782						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTTGGGGCCCTGGAGCATAT	0.622																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2344-2346)aGg>aCg		CUB domain containing protein 1							88.0	84.0	85.0					3																	45127296		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127296C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2345G>C	3.37:g.45127296C>G	ENSP00000296129:p.Arg782Thr						p.R782T	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2479	-			782					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2345G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676358	0.47886	.	.	ENSG00000163814	ENST00000296129	T	0.33438	1.41	5.45	3.67	0.42095	.	0.249796	0.43110	D	0.000603	T	0.37679	0.1012	M	0.62723	1.935	0.80722	D	1	P	0.49783	0.928	P	0.47573	0.55	T	0.23190	-1.0195	10	0.66056	D	0.02	.	11.9105	0.52737	0.0:0.8589:0.0:0.1411	.	782	Q9H5V8	CDCP1_HUMAN	T	782	ENSP00000296129:R782T	ENSP00000296129:R782T	R	-	2	0	CDCP1	45102300	0.949000	0.32298	1.000000	0.80357	0.302000	0.27658	0.833000	0.27504	0.687000	0.31509	0.563000	0.77884	AGG		0.622	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		21	22	0	0	0	1	0	21	22				
OTX1	5013	broad.mit.edu	37	2	63283331	63283331	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:63283331C>G	ENST00000282549.2	+	5	1221	c.945C>G	c.(943-945)gaC>gaG	p.D315E	OTX1_ENST00000366671.3_Missense_Mutation_p.D315E	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D315E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACTCTGCCGACTGCTTGGATT	0.602																																						ENST00000366671.3																			1	Substitution - Missense(1)	p.D315E(1)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(943-945)gaC>gaG		orthodenticle homeobox 1							83.0	66.0	72.0					2																	63283331		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283331C>G		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.945C>G	2.37:g.63283331C>G	ENSP00000282549:p.Asp315Glu					OTX1_ENST00000282549.2_Missense_Mutation_p.D315E	p.D315E	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1221	+	Lung NSC(7;0.121)|all_lung(7;0.211)		315					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.945C>G	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446036	0.43429	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.92911	-3.13;-3.13	4.43	1.3	0.21679	.	0.055730	0.64402	D	0.000002	D	0.87038	0.6078	L	0.52905	1.665	0.43467	D	0.995671	B	0.06786	0.001	B	0.04013	0.001	T	0.82345	-0.0503	10	0.62326	D	0.03	.	5.8794	0.18846	0.1352:0.6447:0.1328:0.0873	.	315	P32242	OTX1_HUMAN	E	315	ENSP00000355631:D315E;ENSP00000282549:D315E	ENSP00000282549:D315E	D	+	3	2	OTX1	63136835	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.935000	0.28924	0.937000	0.37394	0.561000	0.74099	GAC		0.602	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			20	24	0	0	0	1	0	20	24				
RPS6KA6	27330	broad.mit.edu	37	X	83352828	83352828	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:83352828G>A	ENST00000262752.2	-	19	1812	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	602	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATATCACAAGCAGCATCATA	0.318																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1804-1806)gCt>gTt		ribosomal protein S6 kinase, 90kDa, polypeptide 6							135.0	130.0	132.0					X																	83352828		2203	4294	6497	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83352828G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1805C>T	X.37:g.83352828G>A	ENSP00000262752:p.Ala602Val					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V|RPS6KA6_ENST00000495332.1_5'UTR	p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			19	1812	-			602			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1805C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215020	0.95104	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.44083	0.93;0.93	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.66131	-0.6000	10	0.87932	D	0	.	18.392	0.90486	0.0:0.0:1.0:0.0	.	602;602	B7ZL90;Q9UK32	.;KS6A6_HUMAN	V	602	ENSP00000262752:A602V;ENSP00000440830:A602V	ENSP00000262752:A602V	A	-	2	0	RPS6KA6	83239484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.682000	0.84083	2.284000	0.76573	0.600000	0.82982	GCT		0.318	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		6	172	0	0	0	1	0	6	172				
ZNF799	90576	broad.mit.edu	37	19	12501697	12501697	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:12501697C>A	ENST00000430385.3	-	4	1715	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E473D	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATGTGTTACACTCATAAGGTT	0.393																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1417-1419)gaG>gaT		zinc finger protein 799							95.0	99.0	98.0					19																	12501697		2202	4300	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501697C>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1515G>T	19.37:g.12501697C>A	ENSP00000411084:p.Glu505Asp					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D	p.E473D			Q96GE5	ZN799_HUMAN			4	2168	-			505						Missense_Mutation	SNP	ENST00000430385.3	37	c.1419G>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310868	0.40895	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22134	1.97;1.97	1.14	-1.35	0.09114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24812	0.0602	L	0.52206	1.635	0.20074	N	0.999934	P	0.50156	0.932	P	0.55391	0.775	T	0.15549	-1.0433	9	0.59425	D	0.04	.	0.501	0.00579	0.1991:0.3285:0.1998:0.2725	.	505	Q96GE5	ZN799_HUMAN	D	473;505	ENSP00000415278:E473D;ENSP00000411084:E505D	ENSP00000415278:E473D	E	-	3	2	ZNF799	12362697	0.000000	0.05858	0.019000	0.16419	0.388000	0.30384	-2.539000	0.00937	-0.519000	0.06444	0.195000	0.17529	GAG		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	121	1	0	0.150653	1	0.152689	4	121				
PTK6	5753	broad.mit.edu	37	20	62164937	62164937	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:62164937G>A	ENST00000217185.2	-	4	664	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	ACCTGGACCCGGTCTTTCCAG	0.657																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(637-639)Cgg>Tgg		protein tyrosine kinase 6							77.0	81.0	80.0					20																	62164937		2203	4300	6503	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62164937G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.637C>T	20.37:g.62164937G>A	ENSP00000217185:p.Arg213Trp					PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	p.R213W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		4	664	-	all_cancers(38;2.51e-11)		213			Protein kinase.		B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.637C>T	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.387025	0.61956	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;D	0.89485	-2.52;-2.52	4.32	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.908743	0.09000	U	0.863199	D	0.90000	0.6878	M	0.70108	2.13	0.09310	N	1	D	0.58620	0.983	P	0.48227	0.571	T	0.80233	-0.1467	10	0.87932	D	0	.	11.1106	0.48230	0.0:0.0:0.4919:0.508	.	213	Q13882	PTK6_HUMAN	W	213;112	ENSP00000217185:R213W;ENSP00000442460:R112W	ENSP00000217185:R213W	R	-	1	2	PTK6	61635381	0.000000	0.05858	0.977000	0.42913	0.875000	0.50365	0.424000	0.21330	0.780000	0.33566	0.486000	0.48141	CGG		0.657	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			14	68	0	0	0	1	0	14	68				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	3						3	3	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411675	11411675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:11411675delC	ENST00000304623.8	-	5	601	c.412delG	c.(412-414)gacfs	p.D138fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	138					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTGTGGGTCAAGTATTCCT	0.373																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(412-414)acfs		catenin (cadherin-associated protein), delta 2							151.0	141.0	145.0					5																	11411675		2203	4300	6503	SO:0001589	frameshift_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411675delC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.412delG	5.37:g.11411675delC	ENSP00000307134:p.Asp138fs					CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000458100.2_5'UTR	p.D138fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			5	601	-			138					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	c.412delG	CCDS3881.1																																																																																				0.373	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		50	53						50	53	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36091312	36091315	+	Frame_Shift_Del	DEL	CTTA	CTTA	-	rs372176214		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:36091312_36091315delCTTA	ENST00000377966.3	+	10	1623_1626	c.1057_1060delCTTA	c.(1057-1062)cttactfs	p.LT353fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	353					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGTAGAAACCTTACTTACTGTAC	0.343																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1057-1062)ctfs		reversion-inducing-cysteine-rich protein with kazal motifs																																				SO:0001589	frameshift_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36091312_36091315delCTTA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1057_1060delCTTA	9.37:g.36091316_36091319delCTTA	ENSP00000367202:p.Leu353fs						p.LT353fs	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		10	1623_1626	+			353					B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	ENST00000377966.3	37	c.1057_1060delCTTA	CCDS6597.1																																																																																				0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			54	76						54	76	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	82						7	82	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	8						8	8	---	---	---	---
