#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LHX8	431707	broad.mit.edu	37	1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(682-684)Gct>Tct		LIM homeobox 8							107.0	103.0	104.0					1																	75609601		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609601G>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.682G>T	1.37:g.75609601G>T	ENSP00000294638:p.Ala228Ser					LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	p.A228S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			7	1346	+			228					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.682G>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409934	0.96072	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96011	-3.88;-3.88	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	N	0.04636	-0.2	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.95636	0.8694	10	0.62326	D	0.03	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	228	Q68G74	LHX8_HUMAN	S	228;218	ENSP00000294638:A228S;ENSP00000348597:A218S	ENSP00000294638:A228S	A	+	1	0	LHX8	75382189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	GCT		0.398	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		7	37	7	37	---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153788813	153788813	+	Silent	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	ENST00000368655.4	-	7	1395	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	384	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1150-1152)gcC>gcG		GATA zinc finger domain containing 2B							94.0	79.0	84.0					1																	153788813		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153788813G>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1152C>G	1.37:g.153788813G>C							p.A384A	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1395	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		384			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.1152C>G	CCDS1054.1																																																																																				0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		7	83	7	83	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289578	160289578	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1588-1590)ccT>ccC		bromodomain adjacent to zinc finger domain, 2B							185.0	168.0	174.0					2																	160289578		1871	4104	5975	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289578A>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1590T>C	2.37:g.160289578A>G						BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P	p.P530P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2085	-			530		P -> L (in dbSNP:rs3732287).			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1590T>C	CCDS2209.2																																																																																				0.443	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	111	3	111	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219249918	219249918	+	Silent	SNP	C	C	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:219249918C>A	ENST00000233202.6	+	4	662	c.322C>A	c.(322-324)Cga>Aga	p.R108R	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	108					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCAGCGACTGGCTGC	0.632																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)Cga>Aga		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							89.0	85.0	86.0					2																	219249918		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219249918C>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.322C>A	2.37:g.219249918C>A						SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	p.R108R	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	662	+		Renal(207;0.0474)	108					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.322C>A	CCDS2415.1																																																																																				0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		3	126	3	126	---	---	---	---
SLC30A9	10463	broad.mit.edu	37	4	42072553	42072553	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	ENST00000264451.7	+	15	1443	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	421					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398																																						ENST00000264451.7																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)ctG>ctA		solute carrier family 30 (zinc transporter), member 9							181.0	160.0	167.0					4																	42072553		2203	4300	6503	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42072553G>A	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1263G>A	4.37:g.42072553G>A							p.L421L	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			15	1443	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1263G>A	CCDS3465.1																																																																																				0.398	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			23	110	23	110	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	ENST00000194155.4	+	1	2232	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	695					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2083-2085)gCg>gTg									54.0	56.0	55.0					5																	140476458		2135	4180	6315	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476458C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2084C>T	5.37:g.140476458C>T	ENSP00000194155:p.Ala695Val						p.A695V	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2232	+			695					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2084C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634689	0.67130	.	.	ENSG00000112852	ENST00000194155	T	0.25250	1.81	3.99	3.99	0.46301	.	.	.	.	.	T	0.55130	0.1901	H	0.97983	4.12	0.25800	N	0.984523	D	0.67145	0.996	P	0.49752	0.621	T	0.63492	-0.6625	9	0.87932	D	0	.	12.885	0.58038	0.0:0.835:0.165:0.0	.	695	Q9Y5E7	PCDB2_HUMAN	V	695	ENSP00000194155:A695V	ENSP00000194155:A695V	A	+	2	0	PCDHB2	140456642	0.005000	0.15991	0.033000	0.17914	0.553000	0.35397	1.774000	0.38573	1.921000	0.55644	0.456000	0.33151	GCG		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		21	212	21	212	---	---	---	---
RNF217-AS1	7955	broad.mit.edu	37	6	125233353	125233353	+	RNA	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:125233353T>A	ENST00000439075.1	-	0	1392					NR_026876.1																						TGCCAGACACTCTATATTTGC	0.363																																						ENST00000439075.1																			0																				46.0	45.0	45.0					6																	125233353		876	1991	2867			7955							g.chr6:125233353T>A																													6.37:g.125233353T>A								NR_026876.1						0	1392	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.363	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			8	32	8	32	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		4	148	4	148	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28206326	28206326	+	Silent	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_Silent_p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1450-1452)aaG>aaA		zinc finger protein 395							63.0	60.0	61.0					8																	28206326		2203	4300	6503	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28206326C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1452G>A	8.37:g.28206326C>T						ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_Silent_p.K484K	p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	10	1583	-		Ovarian(32;2.06e-05)	484					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1452G>A	CCDS6067.1																																																																																				0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			6	74	6	74	---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	270	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(808-810)gCc>gGc		cell division cycle 14B							53.0	50.0	51.0					9																	99296346		2202	4291	6493	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296346G>C	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.809C>G	9.37:g.99296346G>C	ENSP00000364389:p.Ala270Gly					CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			9	1260	-		Acute lymphoblastic leukemia(62;0.0559)	270			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.809C>G	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.378503|3.378503	0.61735|0.61735	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236|ENST00000452280	T;T;T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93;1.93;1.93|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Dual specificity phosphatase, catalytic domain (1);|.	0.051317|.	0.85682|.	D|.	0.000000|.	T|T	0.74974|0.74974	0.3787|0.3787	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30914|.	0.065;0.3;0.037|.	B;B;B|.	0.39419|.	0.095;0.299;0.045|.	T|T	0.72564|0.72564	-0.4255|-0.4255	10|5	0.66056|.	D|.	0.02|.	-7.7765|-7.7765	19.2011|19.2011	0.93712|0.93712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270;270;233|.	O60729-2;O60729;A8MQ20|.	.;CC14B_HUMAN;.|.	G|W	270;270;270;233;270;270|247	ENSP00000265659:A270G;ENSP00000364389:A270G;ENSP00000364388:A270G;ENSP00000364390:A233G;ENSP00000420572:A270G;ENSP00000364384:A270G|.	ENSP00000265659:A270G|.	A|C	-|-	2|3	0|2	CDC14B|CDC14B	98336167|98336167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.681000|7.681000	0.84073|0.84073	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.388	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		5	35	5	35	---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	ENST00000374541.2	-	13	1147	c.1043T>G	c.(1042-1044)aTg>aGg	p.M348R	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.M217R|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	348					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(649-651)aTg>aGg		protein tyrosine phosphatase, non-receptor type 3							215.0	197.0	203.0					9																	112185091		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185091A>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1043T>G	9.37:g.112185091A>C	ENSP00000363667:p.Met348Arg					PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron	p.M217R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3203	-			348			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.650T>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283882	0.59867	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	D;D	0.81739	-1.53;-1.53	5.55	4.4	0.53042	.	0.081669	0.85682	D	0.000000	T	0.82001	0.4942	L	0.58101	1.795	0.80722	D	1	D	0.58970	0.984	P	0.51170	0.661	T	0.82208	-0.0571	10	0.59425	D	0.04	.	11.9495	0.52946	0.8698:0.0:0.0:0.1301	.	348	P26045	PTN3_HUMAN	R	348;217;348	ENSP00000416654:M217R;ENSP00000363667:M348R	ENSP00000363667:M348R	M	-	2	0	PTPN3	111224912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.873000	0.63057	0.928000	0.37168	0.528000	0.53228	ATG		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			26	194	26	194	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136260870	136260870	+	Silent	SNP	C	C	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	ENST00000371957.3	+	9	953	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(844-846)ccC>ccG		chromosome 9 open reading frame 96							73.0	80.0	77.0					9																	136260870		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260870C>G																												ENST00000371957.3:c.846C>G	9.37:g.136260870C>G						C9orf96_ENST00000371955.1_5'UTR	p.P282P	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	953	+			282			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.846C>G	CCDS35169.1																																																																																				0.493	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			21	51	21	51	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	ENST00000376351.3	+	11	3850	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1164					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3490-3492)cCt>cTt		G protein-coupled receptor 158							61.0	63.0	62.0					10																	25888046		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25888046C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3491C>T	10.37:g.25888046C>T	ENSP00000365529:p.Pro1164Leu					GPR158_ENST00000490549.1_3'UTR	p.P1164L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3850	+			1164					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3491C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385082	0.25031	.	.	ENSG00000151025	ENST00000376351	T	0.64085	-0.08	5.47	5.47	0.80525	.	0.158034	0.44483	D	0.000449	T	0.55305	0.1912	L	0.32530	0.975	0.80722	D	1	B	0.13594	0.008	B	0.08055	0.003	T	0.50250	-0.8850	10	0.49607	T	0.09	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	1164	Q5T848	GP158_HUMAN	L	1164	ENSP00000365529:P1164L	ENSP00000365529:P1164L	P	+	2	0	GPR158	25928052	0.885000	0.30320	0.036000	0.18154	0.010000	0.07245	1.594000	0.36697	2.553000	0.86117	0.655000	0.94253	CCT		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	41	5	41	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462763	26462763	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	ENST00000265944.5	+	30	3736	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1190					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3568-3570)aaA>aaG		myosin IIIA							68.0	67.0	68.0					10																	26462763		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462763A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3570A>G	10.37:g.26462763A>G						MYO3A_ENST00000543632.1_Intron	p.K1190K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3736	+			1190					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3570A>G	CCDS7148.1																																																																																				0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	39	8	39	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	ENST00000282096.4	+	3	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	379					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GTCATTTCCTCTCTACGGAGT	0.448																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1135-1137)tCt>tTt		phosphodiesterase 3B, cGMP-inhibited							181.0	189.0	186.0					11																	14808089		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808089C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1136C>T	11.37:g.14808089C>T	ENSP00000282096:p.Ser379Phe					PDE3B_ENST00000455098.2_Intron	p.S379F	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			3	1489	+			379					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1136C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283472	0.80803	.	.	ENSG00000152270	ENST00000282096	T	0.39229	1.09	5.72	4.77	0.60923	.	1.758080	0.02595	N	0.100455	T	0.63462	0.2513	M	0.73962	2.25	0.80722	D	1	D	0.56035	0.974	P	0.52267	0.694	T	0.56007	-0.8050	10	0.87932	D	0	.	16.1532	0.81636	0.1339:0.8661:0.0:0.0	.	379	Q13370	PDE3B_HUMAN	F	379	ENSP00000282096:S379F	ENSP00000282096:S379F	S	+	2	0	PDE3B	14764665	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	3.569000	0.53827	2.696000	0.92011	0.558000	0.71614	TCT		0.448	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		25	117	25	117	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65375265	65375265	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	ENST00000530153.1	-	4	842	c.321C>T	c.(319-321)caC>caT	p.H107H	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.H364H					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1090-1092)caC>caT		mitogen-activated protein kinase kinase kinase 11							31.0	35.0	34.0					11																	65375265		2201	4296	6497	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375265G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.321C>T	11.37:g.65375265G>A						MAP3K11_ENST00000530153.1_Silent_p.H107H	p.H364H	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			4	1577	-			364			Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.1092C>T																																																																																					0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			9	49	9	49	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	ENST00000393346.3	-	5	612	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000526033.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	155					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(463-465)gTt>gCt		phosphatidylinositol binding clathrin assembly protein							116.0	107.0	110.0					11																	85725995		2200	4295	6495	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85725995A>G	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.464T>C	11.37:g.85725995A>G	ENSP00000377015:p.Val155Ala					PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A	p.V155A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			5	780	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	155					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.464T>C	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509321	0.64522	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	4.98	4.98	0.66077	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.42245	1.32	0.80722	D	1	D;D;B;D	0.89917	0.993;0.999;0.295;1.0	D;D;P;D	0.81914	0.993;0.992;0.577;0.995	T	0.32561	-0.9902	9	.	.	.	-5.9655	14.9913	0.71390	1.0:0.0:0.0:0.0	.	104;155;155;155	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	A	155;155;155;155;104;155;121;104;121	ENSP00000436958:V155A;ENSP00000433846:V155A;ENSP00000377015:V155A;ENSP00000434884:V104A;ENSP00000348718:V155A;ENSP00000433303:V121A;ENSP00000436508:V104A;ENSP00000431545:V121A	.	V	-	2	0	PICALM	85403643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	1.994000	0.58287	0.477000	0.44152	GTT		0.333	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		3	13	3	13	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	ENST00000262133.6	+	15	2313	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	726	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2176-2178)Act>Gct		retinoblastoma-like 2 (p130)							90.0	77.0	82.0					16																	53504028		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504028A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2176A>G	16.37:g.53504028A>G	ENSP00000262133:p.Thr726Ala					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.T726A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			15	2313	+			726			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2176A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068587	0.55539	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.90504	-2.68	6.07	4.98	0.66077	.	0.094628	0.64402	D	0.000001	D	0.88429	0.6434	L	0.54323	1.7	0.80722	D	1	B;B;D	0.57257	0.223;0.434;0.979	B;B;B	0.43950	0.222;0.145;0.437	D	0.86812	0.1999	10	0.42905	T	0.14	-12.9443	12.1355	0.53968	0.9335:0.0:0.0665:0.0	.	726;436;726	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	A	726;436	ENSP00000262133:T726A	ENSP00000262133:T726A	T	+	1	0	RBL2	52061529	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.936000	0.75892	1.124000	0.41980	0.528000	0.53228	ACT		0.547	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		10	42	10	42	---	---	---	---
KRTAP19-6	337973	broad.mit.edu	37	21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	ENST00000334046.5	-	1	97	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522																																						ENST00000334046.5																			0				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						c.(67-69)Tat>Aat		keratin associated protein 19-6							114.0	119.0	117.0					21																	31914086		2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914086A>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.67T>A	21.37:g.31914086A>T	ENSP00000375107:p.Tyr23Asn						p.Y23N	NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN			1	97	-			23					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.67T>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	a	9.444	1.088825	0.20390	.	.	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.14144	2.53	4.44	4.44	0.53790	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.38378	0.272	T	0.13845	-1.0494	8	0.87932	D	0	.	10.4347	0.44428	1.0:0.0:0.0:0.0	.	23	Q3LI70	KR196_HUMAN	N	23	ENSP00000375107:Y23N	ENSP00000375107:Y23N	Y	-	1	0	KRTAP19-6	30835957	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	0.388000	0.20735	1.784000	0.52394	0.411000	0.27672	TAT		0.522	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			11	160	11	160	---	---	---	---
