#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
ARID4B	51742	broad.mit.edu	37	1	235345495	235345495	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr1:235345495A>T	ENST00000264183.3	-	20	3236	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.D827E|ARID4B_ENST00000366603.2_Missense_Mutation_p.D913E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	913					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTCTTTCATCAGAGTTAT	0.373																																						uc021pks.1																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2737-2739)gaT>gaA		Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.							75.0	81.0	79.0					1																	235345495		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345495A>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2739T>A	1.37:g.235345495A>T	ENSP00000264183:p.Asp913Glu					ARID4B_uc001hwq.3_Missense_Mutation_p.D913E|ARID4B_uc001hwr.3_Missense_Mutation_p.D827E|ARID4B_uc001hws.4_Missense_Mutation_p.D827E|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.D594E	p.D913E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	3116	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	913					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2739T>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.942|9.942	1.217730|1.217730	0.22373|0.22373	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.20069|.	2.14;2.1;2.1|.	5.63|5.63	0.804|0.804	0.18697|0.18697	.|.	0.355993|.	0.35262|.	N|.	0.003339|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.08118|0.08118	0|0	0.37779|0.37779	D|D	0.926948|0.926948	D;D;D;B|.	0.67145|.	0.996;0.996;0.996;0.103|.	D;D;D;B|.	0.77557|.	0.99;0.987;0.99;0.031|.	T|T	0.07986|0.07986	-1.0744|-1.0744	10|5	0.09590|.	T|.	0.72|.	-20.397|-20.397	4.7537|4.7537	0.13073|0.13073	0.5876:0.0:0.2834:0.1291|0.5876:0.0:0.2834:0.1291	.|.	594;913;827;913|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	E|K	913;827;913;913|313	ENSP00000264184:D827E;ENSP00000355562:D913E;ENSP00000264183:D913E|.	ENSP00000264183:D913E|.	D|M	-|-	3|2	2|0	ARID4B|ARID4B	233412118|233412118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.011000|1.011000	0.29911|0.29911	0.097000|0.097000	0.17492|0.17492	-0.334000|-0.334000	0.08254|0.08254	GAT|ATG		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
RIC8A	60626	broad.mit.edu	37	11	209578	209578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:209578G>A	ENST00000526104.1	+	3	1648	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BET1L_ENST00000325147.9_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.E96K|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.E102K|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000382762.3_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	102					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTGTCTCTGAGGGGTCCGT	0.617																																						uc001lof.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(304-306)Gag>Aag		Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.							56.0	56.0	56.0					11																	209578		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209578G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.304G>A	11.37:g.209578G>A	ENSP00000432008:p.Glu102Lys					BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.E102K|RIC8A_uc001loh.3_Missense_Mutation_p.E95K	p.E102K	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	629	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	102					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.304G>A		.	.	.	.	.	.	.	.	.	.	G	8.810	0.935047	0.18206	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000528357;ENST00000530889;ENST00000527696	.	.	.	4.56	2.66	0.31614	Armadillo-type fold (1);	2.989550	0.01047	N	0.004403	T	0.47040	0.1424	L	0.52364	1.645	0.22034	N	0.999401	B;B;B	0.16802	0.009;0.01;0.019	B;B;B	0.19148	0.01;0.024;0.014	T	0.29488	-1.0010	9	0.38643	T	0.18	-1.7941	9.4622	0.38792	0.0816:0.1515:0.7669:0.0	.	96;102;102	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	K	102;102;78;106;96	.	ENSP00000325941:E102K	E	+	1	0	RIC8A	199578	0.954000	0.32549	0.001000	0.08648	0.001000	0.01503	1.563000	0.36364	0.610000	0.30035	-0.258000	0.10820	GAG		0.617	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
GALNT18	374378	broad.mit.edu	37	11	11398782	11398782	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:11398782G>A	ENST00000227756.4	-	5	1335	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	308					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGGATTTAGGTAGCGGCACC	0.532																																						uc001mjo.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(922-924)taC>taT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.							72.0	70.0	71.0					11																	11398782		2201	4294	6495	SO:0001819	synonymous_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11398782G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.924C>T	11.37:g.11398782G>A							p.Y308Y	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	4	1345	-			308					O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.924C>T	CCDS7807.1																																																																																				0.532	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
KIAA1549L	25758	broad.mit.edu	37	11	33564672	33564672	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:33564672A>G	ENST00000321505.4	+	1	852	c.672A>G	c.(670-672)ccA>ccG	p.P224P	KIAA1549L_ENST00000265654.5_Silent_p.P224P|KIAA1549L_ENST00000389726.3_Silent_p.P224P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	224						integral component of membrane (GO:0016021)											CTCCTGTGCCAGAAATGCCCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021qfs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						c.(670-672)ccA>ccG		Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.							83.0	82.0	83.0					11																	33564672		1949	4147	6096	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33564672A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.672A>G	11.37:g.33564672A>G			OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	C11orf41_uc001mun.1_Silent_p.P224P	p.P224P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			0	796	+			224					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.672A>G	CCDS44565.2																																																																																				0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
OR4A47	403253	broad.mit.edu	37	11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:48510526T>C	ENST00000446524.1	+	1	258	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TACTTCTTTCTTGCTGGCTTA	0.408																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(181-183)cTt>cCt		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.							59.0	57.0	58.0					11																	48510526		2201	4296	6497	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510526T>C	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.182T>C	11.37:g.48510526T>C	ENSP00000412752:p.Leu61Pro						p.L61P	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			0	182	+			61						Missense_Mutation	SNP	ENST00000446524.1	37	c.182T>C	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	11.78	1.741993	0.30865	.	.	ENSG00000237388	ENST00000446524	T	0.14893	2.47	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000171	T	0.60183	0.2249	H	0.99117	4.435	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.76669	-0.2874	10	0.87932	D	0	.	12.4924	0.55907	0.0:0.0:0.0:1.0	.	61	Q6IF82	O4A47_HUMAN	P	61	ENSP00000412752:L61P	ENSP00000412752:L61P	L	+	2	0	OR4A47	48467102	0.997000	0.39634	0.984000	0.44739	0.003000	0.03518	3.920000	0.56446	1.828000	0.53243	0.459000	0.35465	CTT		0.408	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512	
OR5I1	10798	broad.mit.edu	37	11	55703856	55703856	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:55703856G>C	ENST00000301532.3	-	1	20	c.21C>G	c.(19-21)aaC>aaG	p.N7K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	7					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAACGTGTAGTTTCTATCTG	0.333																																						uc010ris.2																			0		p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(19-21)aaC>aaG		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							40.0	39.0	39.0					11																	55703856		2200	4291	6491	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703856G>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.21C>G	11.37:g.55703856G>C	ENSP00000301532:p.Asn7Lys						p.N7K	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	21	-			7					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.21C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	9.570	1.120657	0.20877	.	.	ENSG00000167825	ENST00000301532	T	0.14766	2.48	4.97	1.5	0.22942	.	0.000000	0.51477	D	0.000088	T	0.16342	0.0393	M	0.84683	2.71	0.31000	N	0.72041	P	0.39665	0.682	B	0.35182	0.197	T	0.14839	-1.0458	10	0.87932	D	0	.	5.7604	0.18196	0.4639:0.0:0.5361:0.0	.	7	Q13606	OR5I1_HUMAN	K	7	ENSP00000301532:N7K	ENSP00000301532:N7K	N	-	3	2	OR5I1	55460432	0.007000	0.16637	0.850000	0.33497	0.199000	0.23934	-0.146000	0.10250	0.600000	0.29862	0.637000	0.83480	AAC		0.333	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:62767306C>T	ENST00000336232.2	-	4	581	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26H|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58H|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149H|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149H	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039). {ECO:0000269|PubMed:16291576}.		glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GATGGGCCTGCGGCCAAACCT	0.627																																						uc009yon.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(445-447)cGc>cAc		Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.							33.0	33.0	33.0					11																	62767306		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62767306C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.446G>A	11.37:g.62767306C>T	ENSP00000337335:p.Arg149His					SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.R26H|SLC22A8_uc001nwo.3_Missense_Mutation_p.R149H|SLC22A8_uc010rmm.2_Missense_Mutation_p.R58H|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H	p.R149H	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN			3	567	-			149		R -> S (complete loss of function; dbSNP:rs45566039).			B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.446G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364418	0.82463	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.056144	0.64402	D	0.000001	D	0.94644	0.8273	H	0.97051	3.93	0.45867	D	0.998725	D;D	0.71674	0.998;0.998	D;D	0.68483	0.93;0.958	D	0.96056	0.9035	10	0.87932	D	0	.	14.4746	0.67537	0.0:1.0:0.0:0.0	.	149;149	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	H	149;135;58;26;149;149	ENSP00000337335:R149H;ENSP00000441658:R58H;ENSP00000443368:R26H;ENSP00000311463:R149H;ENSP00000398548:R149H	ENSP00000311463:R149H	R	-	2	0	SLC22A8	62523882	0.999000	0.42202	1.000000	0.80357	0.692000	0.40212	5.231000	0.65327	2.486000	0.83907	0.511000	0.50034	CGC		0.627	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
HTR3A	3359	broad.mit.edu	37	11	113860380	113860380	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:113860380C>T	ENST00000504030.2	+	9	1777	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	HTR3A_ENST00000299961.5_Silent_p.R429R|HTR3A_ENST00000375498.2_Silent_p.R450R|HTR3A_ENST00000506841.2_Silent_p.R476R|HTR3A_ENST00000355556.2_Silent_p.R482R|HTR3A_ENST00000535865.1_Silent_p.R188R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	444	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ACTGGCTGCGCGTGGGCTCCG	0.612																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1444-1446)cgC>cgT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						75.0	70.0	72.0					11																	113860380		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860380C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1332C>T	11.37:g.113860380C>T						HTR3A_uc010rxa.2_Silent_p.R450R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R429R	p.R482R	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1679	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	444					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1446C>T																																																																																					0.612	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
C2CD2L	9854	broad.mit.edu	37	11	118984640	118984640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:118984640G>A	ENST00000528586.1	+	8	879	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	C2CD2L_ENST00000336702.3_Missense_Mutation_p.R523Q			O14523	C2C2L_HUMAN	C2CD2-like	522						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGGGCGGGTGGCCAAG	0.587																																						uc001pvn.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1567-1569)cGg>cAg		Homo sapiens C2CD2-like (C2CD2L), mRNA.							56.0	58.0	57.0					11																	118984640		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984640G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.809G>A	11.37:g.118984640G>A	ENSP00000433600:p.Arg270Gln					C2CD2L_uc001pvo.3_Missense_Mutation_p.R522Q	p.R523Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN			11	1927	+			522					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059876	0.76074	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.78924	-1.22;-1.22	5.25	5.25	0.73442	.	0.061938	0.64402	D	0.000010	T	0.67822	0.2934	N	0.25647	0.755	0.40099	D	0.976346	D;D	0.57899	0.981;0.981	P;P	0.47044	0.535;0.458	T	0.69771	-0.5055	10	0.51188	T	0.08	-7.1841	7.2572	0.26183	0.1762:0.0:0.8238:0.0	.	522;523	O14523;O14523-2	C2C2L_HUMAN;.	Q	523;270	ENSP00000338885:R523Q;ENSP00000433600:R270Q	ENSP00000338885:R523Q	R	+	2	0	C2CD2L	118489850	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.894000	0.56250	2.722000	0.93159	0.655000	0.94253	CGG		0.587	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807	
OR6M1	390261	broad.mit.edu	37	11	123676407	123676407	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123676407G>A	ENST00000309154.2	-	1	688	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGAAATTATGTACACGTAGG	0.493																																						uc010rzz.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(649-651)taC>taT		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.							73.0	64.0	67.0					11																	123676407		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676407G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.651C>T	11.37:g.123676407G>A							p.Y217Y	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	651	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	217					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.651C>T	CCDS31696.1																																																																																				0.493	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
OR10G9	219870	broad.mit.edu	37	11	123894514	123894514	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123894514C>T	ENST00000375024.1	+	1	795	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCCAGGGACGTCGTGGATG	0.517																																						uc010sad.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(793-795)gaC>gaT		Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.							155.0	141.0	146.0					11																	123894514		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894514C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.795C>T	11.37:g.123894514C>T							p.D265D	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	795	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	265						Silent	SNP	ENST00000375024.1	37	c.795C>T	CCDS31703.1																																																																																				0.517	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953	
OR10G7	390265	broad.mit.edu	37	11	123908977	123908977	+	Silent	SNP	A	A	G	rs188316662	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123908977A>G	ENST00000330487.5	-	1	740	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACCACGATACAGTGGGAGG	0.567													A|||	2	0.000399361	0.0	0.0014	5008	,	,		18777	0.001		0.0	False		,,,				2504	0.0					uc001pzq.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(730-732)tgT>tgC		Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.							115.0	99.0	104.0					11																	123908977		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908977A>G	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.732T>C	11.37:g.123908977A>G							p.C244C	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	0	732	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	244					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.732T>C	CCDS31705.1																																																																																				0.567	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463	
TSPAN9	10867	broad.mit.edu	37	12	3388164	3388164	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr12:3388164A>G	ENST00000011898.5	+	5	423	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	TSPAN9_ENST00000537971.1_Missense_Mutation_p.I88V|TSPAN9_ENST00000407263.1_Missense_Mutation_p.I88V|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	88						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CCAGTTTTTCATCGTCCTGTT	0.552																																						uc001qlp.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(262-264)Atc>Gtc		Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.							229.0	168.0	188.0					12																	3388164		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3388164A>G	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.262A>G	12.37:g.3388164A>G	ENSP00000011898:p.Ile88Val					TSPAN9_uc021qtd.1_Missense_Mutation_p.I88V	p.I88V	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	445	+			88					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.262A>G	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	A	9.925	1.213321	0.22289	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.80738	-1.41;-1.41;-1.41	5.4	1.82	0.25136	.	0.096714	0.64402	N	0.000001	T	0.62429	0.2427	N	0.25890	0.77	0.53688	D	0.99997	B	0.31125	0.309	B	0.32022	0.139	T	0.51671	-0.8676	10	0.06365	T	0.9	.	7.8401	0.29393	0.752:0.0:0.248:0.0	.	88	O75954	TSN9_HUMAN	V	88	ENSP00000444799:I88V;ENSP00000011898:I88V;ENSP00000384488:I88V	ENSP00000011898:I88V	I	+	1	0	TSPAN9	3258425	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	3.191000	0.50981	0.073000	0.16731	0.459000	0.35465	ATC		0.552	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
PSMB11	122706	broad.mit.edu	37	14	23511816	23511816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:23511816G>A	ENST00000408907.2	+	1	441	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGTGGCCAGTGCTGCCAAGCT	0.622																																						uc010ake.1																			0				endometrium(1)|kidney(2)|lung(4)	7						c.(382-384)Gct>Act		Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.							67.0	73.0	71.0					14																	23511816		2138	4248	6386	SO:0001583	missense	122706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23511816G>A		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.382G>A	14.37:g.23511816G>A	ENSP00000386212:p.Ala128Thr						p.A128T	NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	0	441	+	all_cancers(95;3.3e-05)		128						Missense_Mutation	SNP	ENST00000408907.2	37	c.382G>A	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775534	0.49786	.	.	ENSG00000222028	ENST00000408907	T	0.23552	1.9	5.24	4.33	0.51752	.	0.059354	0.64402	N	0.000003	T	0.36358	0.0964	M	0.89030	3	0.38219	D	0.940686	B	0.26809	0.16	B	0.25140	0.058	T	0.42172	-0.9467	10	0.59425	D	0.04	-2.2995	11.8811	0.52576	0.0873:0.0:0.9127:0.0	.	128	A5LHX3	PSB11_HUMAN	T	128	ENSP00000386212:A128T	ENSP00000386212:A128T	A	+	1	0	PSMB11	22581656	0.976000	0.34144	0.036000	0.18154	0.984000	0.73092	2.752000	0.47516	1.185000	0.42971	0.563000	0.77884	GCT		0.622	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780	
ARHGAP5	394	broad.mit.edu	37	14	32561267	32561267	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561267A>G	ENST00000345122.3	+	2	1707	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.K464K|ARHGAP5_ENST00000539826.2_Silent_p.K464K|ARHGAP5_ENST00000432921.1_Silent_p.K464K|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	464	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGCCTACAAATATATCACTG	0.373																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0		p.Y463F(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1390-1392)aaA>aaG		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							76.0	79.0	78.0					14																	32561267		2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561267A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1392A>G	14.37:g.32561267A>G						ARHGAP5_uc001wrm.3_Silent_p.K464K|ARHGAP5_uc001wrn.3_Silent_p.K464K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.K464K	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	1631	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		464			FF 3.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1392A>G	CCDS32062.1																																																																																				0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
ARHGAP5	394	broad.mit.edu	37	14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561946A>T	ENST00000345122.3	+	2	2386	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.M691L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.M691L|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	691					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2071-2073)Atg>Ttg		Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.							60.0	61.0	61.0					14																	32561946		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561946A>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2071A>T	14.37:g.32561946A>T	ENSP00000371897:p.Met691Leu					ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	p.M691L	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	1	2310	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		691					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2071A>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.637114	0.00799	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.54	5.54	0.83059	.	0.219081	0.64402	D	0.000020	T	0.03739	0.0106	N	0.02315	-0.6	0.33199	D	0.551871	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	10	0.08381	T	0.77	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	691;691	Q13017-2;Q13017	.;RHG05_HUMAN	L	691	ENSP00000452222:M691L;ENSP00000441692:M691L;ENSP00000371897:M691L;ENSP00000393307:M691L	ENSP00000371897:M691L	M	+	1	0	ARHGAP5	31631697	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.489000	0.60309	2.219000	0.72066	0.528000	0.53228	ATG		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)																												uc001wvm.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1765-1767)Gtg>Atg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							117.0	99.0	105.0					14																	42360832		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360832G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1765G>A	14.37:g.42360832G>A	ENSP00000298119:p.Val589Met	HNSCC(30;0.082)				LRFN5_uc010ana.3_Intron	p.V589M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2963	+			589					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1765G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084060	0.07097	.	.	ENSG00000165379	ENST00000298119	T	0.46819	0.86	5.95	-8.33	0.00992	.	0.719510	0.12218	N	0.488691	T	0.15435	0.0372	N	0.08118	0	0.33496	D	0.589311	P	0.37370	0.592	B	0.22880	0.042	T	0.20672	-1.0268	10	0.42905	T	0.14	.	7.3406	0.26635	0.2434:0.0993:0.5598:0.0975	.	589	Q96NI6	LRFN5_HUMAN	M	589	ENSP00000298119:V589M	ENSP00000298119:V589M	V	+	1	0	LRFN5	41430582	0.000000	0.05858	0.103000	0.21229	0.809000	0.45718	-0.726000	0.04936	-1.450000	0.01936	-0.157000	0.13467	GTG		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
CDC42BPB	9578	broad.mit.edu	37	14	103440447	103440447	+	Missense_Mutation	SNP	G	G	A	rs149124468		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:103440447G>A	ENST00000361246.2	-	12	1835	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGCGAAGCGCCACTGTGTC	0.537																																						uc001ymi.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1546-1548)gCg>gTg		Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.		G	VAL/ALA	0,4406		0,0,2203	58.0	54.0	55.0		1547	3.2	0.0	14	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CDC42BPB	NM_006035.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	516/1712	103440447	1,13005	2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103440447G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1547C>T	14.37:g.103440447G>A	ENSP00000355237:p.Ala516Val						p.A516V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1779	-		Melanoma(154;0.155)	516						Missense_Mutation	SNP	ENST00000361246.2	37	c.1547C>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422281	0.25639	0.0	1.16E-4	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.18	3.2	0.36748	.	0.497596	0.24010	N	0.042382	T	0.47655	0.1457	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37753	-0.9692	10	0.45353	T	0.12	.	10.219	0.43186	0.1758:0.0:0.8242:0.0	.	516	Q9Y5S2	MRCKB_HUMAN	V	516	ENSP00000355237:A516V	ENSP00000355237:A516V	A	-	2	0	CDC42BPB	102510200	0.996000	0.38824	0.000000	0.03702	0.394000	0.30568	7.662000	0.83803	0.464000	0.27142	0.462000	0.41574	GCG		0.537	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
AHNAK2	113146	broad.mit.edu	37	14	105409046	105409046	+	Missense_Mutation	SNP	G	G	A	rs574649015	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:105409046G>A	ENST00000333244.5	-	7	12861	c.12742C>T	c.(12742-12744)Ccc>Tcc	p.P4248S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4248						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.647																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12742-12744)Ccc>Tcc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							115.0	126.0	122.0					14																	105409046		1887	4108	5995	SO:0001583	missense	113146					nucleus		g.chr14:105409046G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12742C>T	14.37:g.105409046G>A	ENSP00000353114:p.Pro4248Ser					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	p.P4248S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	12862	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4248					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12742C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.545895	0.45280	.	.	ENSG00000185567	ENST00000333244	T	0.05649	3.41	3.8	-1.05	0.10036	.	0.219539	0.22532	U	0.058837	T	0.17619	0.0423	M	0.89030	3	0.09310	N	1	P	0.35139	0.486	P	0.45167	0.472	T	0.15954	-1.0419	10	0.33940	T	0.23	-10.7586	14.8334	0.70164	0.0:0.6085:0.3915:0.0	.	4248	Q8IVF2	AHNK2_HUMAN	S	4248	ENSP00000353114:P4248S	ENSP00000353114:P4248S	P	-	1	0	AHNAK2	104480091	0.017000	0.18338	0.000000	0.03702	0.045000	0.14185	0.426000	0.21363	-0.221000	0.09973	0.297000	0.19635	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4N4	283694	broad.mit.edu	37	15	22383070	22383070	+	Missense_Mutation	SNP	G	G	A	rs375688421		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:22383070G>A	ENST00000328795.4	+	1	689	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTTCTAATGGTCTTCAACAG	0.522																																						uc001yuc.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(598-600)Gtc>Atc		Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.		G	ILE/VAL	1,4379		0,1,2189	122.0	98.0	106.0		598	1.4	1.0	15		106	0,8518		0,0,4259	no	missense	OR4N4	NM_001005241.2	29	0,1,6448	AA,AG,GG		0.0,0.0228,0.0078	benign	200/317	22383070	1,12897	2190	4259	6449	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383070G>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.598G>A	15.37:g.22383070G>A	ENSP00000332500:p.Val200Ile					abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.V200I	p.V200I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	6	1579	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	200					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.598G>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.725	-0.781937	0.02929	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00076	8.76	3.37	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.329764	0.21560	N	0.072582	T	0.00073	0.0002	N	0.21583	0.68	0.21020	N	0.999806	B	0.19935	0.04	B	0.26969	0.075	T	0.24048	-1.0171	10	0.06891	T	0.86	-7.6556	3.344	0.07128	0.237:0.0:0.5626:0.2003	.	200	Q8N0Y3	OR4N4_HUMAN	I	200	ENSP00000332500:V200I	ENSP00000332500:V200I	V	+	1	0	OR4N4	19884434	0.000000	0.05858	0.994000	0.49952	0.682000	0.39822	-0.688000	0.05150	0.215000	0.20761	0.404000	0.27445	GTC		0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
SYNM	23336	broad.mit.edu	37	15	99672043	99672043	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:99672043C>A	ENST00000336292.6	+	5	3595	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1160	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACCTAAGTCAGGCAGCGAG	0.587																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3475-3477)Cag>Aag		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							39.0	43.0	42.0					15																	99672043		2087	4219	6306	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672043C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3475C>A	15.37:g.99672043C>A	ENSP00000336775:p.Gln1159Lys					SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	p.Q1159K	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	3595	+			1160			Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3475C>A		.	.	.	.	.	.	.	.	.	.	C	12.52	1.961401	0.34565	.	.	ENSG00000182253	ENST00000336292	D	0.82893	-1.66	5.27	1.73	0.24493	.	.	.	.	.	T	0.73118	0.3546	.	.	.	0.09310	N	0.999999	B	0.25667	0.131	B	0.22386	0.039	T	0.63839	-0.6546	8	0.66056	D	0.02	.	6.8662	0.24094	0.0:0.6511:0.154:0.1949	.	1160	O15061	SYNEM_HUMAN	K	1159	ENSP00000336775:Q1159K	ENSP00000336775:Q1159K	Q	+	1	0	SYNM	97489566	0.109000	0.22037	0.000000	0.03702	0.003000	0.03518	0.673000	0.25203	0.542000	0.28846	0.655000	0.94253	CAG		0.587	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728	
ERN2	10595	broad.mit.edu	37	16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	rs148177655	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr16:23718180G>A	ENST00000457008.2	-	6	420	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	ERN2_ENST00000256797.4_Missense_Mutation_p.R176W					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(526-528)Cgg>Tgg		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.		G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	31.0	31.0	31.0		526	4.7	1.0	16	dbSNP_134	31	0,8600		0,0,4300	yes	missense	ERN2	NM_033266.3	101	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	176/975	23718180	1,12993	2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718180G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.382C>T	16.37:g.23718180G>A	ENSP00000413812:p.Arg128Trp					ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	p.R176W	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	695	-			128						Missense_Mutation	SNP	ENST00000457008.2	37	c.526C>T		.	.	.	.	.	.	.	.	.	.	G	23.5	4.427550	0.83667	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57107	0.42;0.42	5.73	4.72	0.59763	.	0.054383	0.64402	D	0.000001	T	0.68035	0.2957	M	0.75777	2.31	0.40468	D	0.980311	D;D	0.89917	1.0;1.0	D;D	0.66084	0.936;0.941	T	0.71849	-0.4468	10	0.87932	D	0	.	10.59	0.45304	0.0:0.0:0.6866:0.3134	.	128;128	E7ETG2;A5YM65	.;.	W	176;128	ENSP00000256797:R176W;ENSP00000413812:R128W	ENSP00000256797:R176W	R	-	1	2	ERN2	23625681	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.852000	0.62904	2.712000	0.92718	0.557000	0.71058	CGG		0.592	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	uc002gim.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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ZNF286B	729288	broad.mit.edu	37	17	18566092	18566093	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:18566092_18566093insT	ENST00000545289.1	-	5	976_977	c.726_727insA	c.(724-729)aaacctfs	p.P243fs	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CATTTATGAGGTTTTTTCTCTT	0.366																																						uc010vyd.1																			0				endometrium(1)|lung(1)	2						c.(724-729)aaacctfs		Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.																																				SO:0001589	frameshift_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18566092_18566093insT		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.727dupA	17.37:g.18566098_18566098dupT	ENSP00000461413:p.Pro243fs						p.K242fs	NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN			4	977_978	-			242						Frame_Shift_Ins	INS	ENST00000545289.1	37	c.726_727insA	CCDS58523.1																																																																																				0.366	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047	
LAMA1	284217	broad.mit.edu	37	18	7037694	7037694	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:7037694C>T	ENST00000389658.3	-	12	1713	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	540	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTTGCTGAGACGGGATCTTCC	0.507																																						uc002knm.3																			0		p.I539M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1618-1620)ccG>ccA		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	83.0	88.0					18																	7037694		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7037694C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1620G>A	18.37:g.7037694C>T						LAMA1_uc010wzj.2_Silent_p.P16P	p.P540P	NM_005559	NP_005550	P25391	LAMA1_HUMAN			11	1714	-		Colorectal(10;0.172)	540			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.1620G>A	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
SIGLEC15	284266	broad.mit.edu	37	18	43418924	43418924	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:43418924C>T	ENST00000389474.3	+	4	955	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SIGLEC15_ENST00000587418.1_Missense_Mutation_p.P16L|SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Silent_p.S92S	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	246	Ig-like C2-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGGCCGCTCCGAGGCCAGCG	0.711																																						uc002lbl.1																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(736-738)tcC>tcT		Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.							10.0	12.0	12.0					18																	43418924		2093	4147	6240	SO:0001819	synonymous_variant	284266					integral to membrane		g.chr18:43418924C>T	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.738C>T	18.37:g.43418924C>T						SIGLEC15_uc010xcp.1_Non-coding_Transcript	p.S246S	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN			3	887	+			246			Ig-like C2-type.		A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	c.738C>T	CCDS32819.1																																																																																				0.711	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602	
HDHD2	84064	broad.mit.edu	37	18	44635107	44635110	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:44635107_44635110delTAAG	ENST00000300605.6	-	7	875_878	c.723_726delCTTA	c.(721-726)tacttafs	p.YL241fs	RP11-49K24.8_ENST00000591183.1_RNA|HDHD2_ENST00000587841.1_5'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	241						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTCACAAGTTAAGTAAGGAGGTG	0.407																																						uc002lcs.3																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(721-726)tacttafs		Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.																																				SO:0001589	frameshift_variant	84064						hydrolase activity	g.chr18:44635107_44635110delTAAG	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.723_726delCTTA	18.37:g.44635111_44635114delTAAG	ENSP00000300605:p.Tyr241fs					HDHD2_uc002lct.3_Frame_Shift_Del_p.Y151fs	p.Y241fs	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN			6	856_859	-			241					A8K7T3|Q96NV4	Frame_Shift_Del	DEL	ENST00000300605.6	37	c.723_726delCTTA	CCDS32829.1																																																																																				0.407	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124	
SERPINB4	6318	broad.mit.edu	37	18	61307011	61307011	+	Splice_Site	SNP	C	C	T	rs534619178		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:61307011C>T	ENST00000341074.5	-	6	585		c.e6-1		SERPINB4_ENST00000356424.6_Splice_Site	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTAATTTTTTCTGCAAGGGAA	0.373																																						uc002ljf.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.e6-1		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							77.0	79.0	78.0					18																	61307011		2202	4299	6501	SO:0001630	splice_region_variant	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61307011C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.470-1G>A	18.37:g.61307011C>T						SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	p.E157_splice	NM_002974	NP_002965	P29508	SPB3_HUMAN			6	556	-			157					A8K847	Splice_Site	SNP	ENST00000341074.5	37	c.470_splice	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	9.080	0.999019	0.19121	.	.	ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000413673;ENST00000436264	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9139	0.79496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB4	59457991	0.999000	0.42202	0.464000	0.27143	0.067000	0.16453	5.719000	0.68462	2.214000	0.71695	0.603000	0.83216	.		0.373	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	Intron
ZNF493	284443	broad.mit.edu	37	19	21606942	21606942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:21606942G>A	ENST00000355504.4	+	2	1363	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C494Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATGTGGCAAAGCT	0.328																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1480-1482)tGt>tAt		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							32.0	35.0	34.0					19																	21606942		2186	4280	6466	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606942G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1097G>A	19.37:g.21606942G>A	ENSP00000347691:p.Cys366Tyr					ZNF493_uc002npx.3_Missense_Mutation_p.C366Y|ZNF493_uc002npy.3_Missense_Mutation_p.C366Y|ZNF493_uc021urq.1_Missense_Mutation_p.C366Y	p.C494Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1600	+			366					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1481G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.43	2.531898	0.45073	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85861	-2.04;-2.04	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93654	0.7973	H	0.96576	3.845	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.76575	0.89;0.988	D	0.92473	0.5987	9	0.87932	D	0	.	8.9126	0.35563	0.0:0.0:1.0:0.0	.	366;494	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	494;366	ENSP00000376110:C494Y;ENSP00000347691:C366Y	ENSP00000347691:C366Y	C	+	2	0	ZNF493	21398782	0.981000	0.34729	0.152000	0.22495	0.150000	0.21749	3.373000	0.52394	0.453000	0.26858	0.461000	0.40582	TGT		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF99	7652	broad.mit.edu	37	19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941129T>G	ENST00000596209.1	-	4	1672	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K437Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.333																																						uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1582-1584)Aag>Cag		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.																																				SO:0001583	missense	7652							g.chr19:22941129T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1582A>C	19.37:g.22941129T>G	ENSP00000472969:p.Lys528Gln						p.K528Q	NM_001080409	NP_001073878					3	1737	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1582A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.033	-1.323055	0.01320	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.29	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	N	0.20610	0.595	0.09310	N	1	D	0.56035	0.974	P	0.62184	0.899	T	0.07195	-1.0785	9	0.02654	T	1	.	7.2218	0.25992	0.0:0.0:0.6996:0.3004	.	437	A8MXY4	ZNF99_HUMAN	Q	437	ENSP00000380293:K437Q	ENSP00000380293:K437Q	K	-	1	0	ZNF99	22732969	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.164000	0.03135	-0.293000	0.08986	0.329000	0.21502	AAG		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941154C>G	ENST00000596209.1	-	4	1647	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K428N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353																																						uc021urt.1																			0		p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1555-1557)aaG>aaC		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.							36.0	37.0	37.0					19																	22941154		2012	4190	6202	SO:0001583	missense	7652							g.chr19:22941154C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1557G>C	19.37:g.22941154C>G	ENSP00000472969:p.Lys519Asn						p.K519N	NM_001080409	NP_001073878					3	1712	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1557G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.118307	0.00349	.	.	ENSG00000213973	ENST00000397104	T	0.07567	3.18	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46721	-0.9171	9	0.14252	T	0.57	.	1.8516	0.03170	0.1596:0.3714:0.3123:0.1568	.	428	A8MXY4	ZNF99_HUMAN	N	428	ENSP00000380293:K428N	ENSP00000380293:K428N	K	-	3	2	ZNF99	22732994	0.000000	0.05858	0.002000	0.10522	0.184000	0.23303	-7.212000	0.00041	-1.397000	0.02068	-1.031000	0.02408	AAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
CCDC8	83987	broad.mit.edu	37	19	46914965	46914965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:46914965C>T	ENST00000307522.3	-	1	1876	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	368					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCTCTGCCCTCTGATTATC	0.612																																						uc002pep.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1102-1104)aGg>aAg		Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.							121.0	121.0	121.0					19																	46914965		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914965C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1103G>A	19.37:g.46914965C>T	ENSP00000303158:p.Arg368Lys						p.R368K	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	0	1955	-			368					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1103G>A	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.93|10.93	1.490731|1.490731	0.26686|0.26686	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000540252|ENST00000307522	.|T	.|0.14893	.|2.47	3.39|3.39	2.35|2.35	0.29111|0.29111	.|.	.|0.801728	.|0.10528	.|N	.|0.664229	T|T	0.15003|0.15003	0.0362|0.0362	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.40731	.|0.728	.|B	.|0.32980	.|0.156	T|T	0.15350|0.15350	-1.0440|-1.0440	6|10	0.72032|0.12766	D|T	0.01|0.61	-3.2833|-3.2833	8.8491|8.8491	0.35188|0.35188	0.0:0.8839:0.0:0.1161|0.0:0.8839:0.0:0.1161	.|.	.|368	.|Q9H0W5	.|CCDC8_HUMAN	R|K	215|368	.|ENSP00000303158:R368K	ENSP00000441180:G215R|ENSP00000303158:R368K	G|R	-|-	1|2	0|0	CCDC8|CCDC8	51606805|51606805	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.022000|0.022000	0.10575|0.10575	0.216000|0.216000	0.17585|0.17585	1.001000|1.001000	0.39076|0.39076	0.313000|0.313000	0.20887|0.20887	GGG|AGG		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:52942423T>A	ENST00000332323.6	+	4	1810	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.N570K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438													T|||	4	0.000798722	0.0	0.0	5008	,	,		21602	0.0		0.004	False		,,,				2504	0.0					uc002pzk.3																			2	Substitution - Missense(2)	p.N583K(2)	prostate(1)|kidney(1)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1747-1749)aaT>aaA		Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.							71.0	68.0	69.0					19																	52942423		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942423T>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1749T>A	19.37:g.52942423T>A	ENSP00000327538:p.Asn583Lys					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	p.N583K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	1816	+			583					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1749T>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	T	7.949	0.744393	0.15710	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.12569	2.67;2.67	1.73	-3.46	0.04767	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.00507	-1.42	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.36939	-0.9727	9	0.42905	T	0.14	.	2.4785	0.04581	0.3558:0.0:0.2693:0.3748	.	570;583	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	K	583;570;582	ENSP00000327538:N583K;ENSP00000391358:N570K	ENSP00000327538:N583K	N	+	3	2	ZNF534	57634235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.588000	0.00422	-1.795000	0.01255	-0.898000	0.02899	AAT		0.438	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
A1BG	1	broad.mit.edu	37	19	58863692	58863692	+	Silent	SNP	G	G	A	rs138577019		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:58863692G>A	ENST00000263100.3	-	4	631	c.570C>T	c.(568-570)ggC>ggT	p.G190G	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	190	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G190G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAGGGCGCCTTCCCCAT	0.622																																						uc002qsd.4																			1	Substitution - coding silent(1)	p.G190G(2)	lung(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(568-570)ggC>ggT		Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	104.0	92.0	96.0		570	-8.1	0.0	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	A1BG	NM_130786.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		190/496	58863692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58863692G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.570C>T	19.37:g.58863692G>A						A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	p.G190G	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	632	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	190			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.570C>T	CCDS12976.1																																																																																				0.622	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786	
ZNF638	27332	broad.mit.edu	37	2	71651040	71651040	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:71651040G>A	ENST00000409544.1	+	22	5026	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.G406R|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1466R	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1466					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTACCAGAGGAGGCAGTGG	0.463																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4396-4398)Gga>Aga		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							53.0	52.0	53.0					2																	71651040		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71651040G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4396G>A	2.37:g.71651040G>A	ENSP00000386433:p.Gly1466Arg					ZNF638_uc010yqw.1_Missense_Mutation_p.G1045R|ZNF638_uc002shz.3_Missense_Mutation_p.G1466R|ZNF638_uc002shy.3_Missense_Mutation_p.G1466R|ZNF638_uc002sia.3_Missense_Mutation_p.G1466R|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.G563R|ZNF638_uc002sid.3_Intron	p.G1466R	NM_014497	NP_055312	Q14966	ZN638_HUMAN			21	4719	+			1466					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4396G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922380	0.73213	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.47528	0.84;0.84;1.19	5.46	5.46	0.80206	.	0.131175	0.35013	N	0.003508	T	0.57858	0.2082	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.993;0.996;1.0	P;D;D	0.91635	0.859;0.933;0.999	T	0.48714	-0.9011	10	0.17832	T	0.49	-10.9036	16.7937	0.85596	0.0:0.0:1.0:0.0	.	1466;1466;1466	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	R	1466;1466;406;406	ENSP00000264447:G1466R;ENSP00000386433:G1466R;ENSP00000386813:G406R	ENSP00000264447:G1466R	G	+	1	0	ZNF638	71504548	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.678000	0.61641	2.550000	0.86006	0.563000	0.77884	GGA		0.463	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
C2orf78	388960	broad.mit.edu	37	2	74042973	74042973	+	Silent	SNP	C	C	T	rs373917345		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:74042973C>T	ENST00000409561.1	+	3	1744	c.1623C>T	c.(1621-1623)agC>agT	p.S541S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	541										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAGTAACAGCGCTTCTGTGA	0.502																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1621-1623)agC>agT		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.		C		0,3958		0,0,1979	86.0	83.0	84.0		1623	1.1	0.0	2		84	1,8345		0,1,4172	no	coding-synonymous	C2orf78	NM_001080474.1		0,1,6151	TT,TC,CC		0.012,0.0,0.0081		541/923	74042973	1,12303	1979	4173	6152	SO:0001819	synonymous_variant	388960							g.chr2:74042973C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1623C>T	2.37:g.74042973C>T							p.S541S	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			2	1744	+			541						Silent	SNP	ENST00000409561.1	37	c.1623C>T	CCDS46338.1																																																																																				0.502	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474	
TRABD2A	129293	broad.mit.edu	37	2	85051153	85051153	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:85051153G>A	ENST00000409520.2	-	6	1300	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R371W|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	420					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGCTTCTTCCGGAACCTCTGT	0.667																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1258-1260)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							37.0	42.0	41.0					2																	85051153		2196	4300	6496	SO:0001583	missense	129293					integral to membrane		g.chr2:85051153G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1258C>T	2.37:g.85051153G>A	ENSP00000387075:p.Arg420Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R371W	p.R420W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1347	-			420					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1258C>T		.	.	.	.	.	.	.	.	.	.	g	16.01	3.000911	0.54254	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.27890	1.64;1.68	3.8	-0.737	0.11129	.	0.659654	0.11632	N	0.544674	T	0.19805	0.0476	.	.	.	0.09310	N	1	D;D	0.56968	0.978;0.968	B;B	0.39840	0.265;0.311	T	0.17258	-1.0375	9	0.87932	D	0	.	4.9233	0.13880	0.1101:0.0:0.3478:0.5422	.	420;371	Q86V40;Q86V40-2	CB089_HUMAN;.	W	371;420	ENSP00000335004:R371W;ENSP00000387075:R420W	ENSP00000335004:R371W	R	-	1	2	C2orf89	84904664	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.085000	0.14912	0.046000	0.15833	0.444000	0.29173	CGG		0.667	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824	
RGPD4	285190	broad.mit.edu	37	2	108489249	108489249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:108489249G>A	ENST00000408999.3	+	20	4866	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1597M	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1597					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAGCAAAGTGGAACCTAA	0.378																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4789-4791)Gtg>Atg		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							17.0	16.0	16.0					2																	108489249		690	1590	2280	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108489249G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4789G>A	2.37:g.108489249G>A	ENSP00000386810:p.Val1597Met					RGPD4_uc002tdu.3_Missense_Mutation_p.V784M|RGPD4_uc010ywl.2_Non-coding_Transcript	p.V1597M	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			19	4871	+			1597					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4789G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.38	1.620361	0.28801	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40225	1.04;1.04	2.33	0.265	0.15612	.	.	.	.	.	T	0.29126	0.0724	L	0.54323	1.7	0.20074	N	0.999936	P	0.41748	0.761	B	0.31751	0.135	T	0.18461	-1.0336	9	0.54805	T	0.06	-0.0351	4.5512	0.12114	0.1541:0.2351:0.6107:0.0	.	1597	Q7Z3J3	RGPD4_HUMAN	M	1597;1597;964	ENSP00000347081:V1597M;ENSP00000386810:V1597M	ENSP00000347081:V1597M	V	+	1	0	RGPD4	107855681	0.000000	0.05858	0.385000	0.26158	0.395000	0.30598	-0.664000	0.05292	0.270000	0.21984	0.162000	0.16502	GTG		0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
TTN	7273	broad.mit.edu	37	2	179412923	179412923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:179412923G>A	ENST00000591111.1	-	289	88731	c.88507C>T	c.(88507-88509)Cgg>Tgg	p.R29503W	TTN_ENST00000342992.6_Missense_Mutation_p.R28576W|TTN_ENST00000342175.6_Missense_Mutation_p.R22271W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22204W|TTN_ENST00000460472.2_Missense_Mutation_p.R22079W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31144W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29503	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTGATCCGGCTGCCTCCA	0.493																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85726-85728)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							154.0	155.0	155.0					2																	179412923		1987	4174	6161	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412923G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88507C>T	2.37:g.179412923G>A	ENSP00000465570:p.Arg29503Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22271W|TTN_uc021vta.1_Missense_Mutation_p.R22204W|TTN_uc021vtb.1_Missense_Mutation_p.R22079W	p.R28576W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	85951	-			29503			Ig-like 132.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85726C>T		.	.	.	.	.	.	.	.	.	.	G	18.10	3.548780	0.65311	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77445	0.4131	M	0.85462	2.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80469	-0.1369	9	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	22079;22204;22271;29503	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	28576;22079;22271;22204;22076	ENSP00000343764:R28576W;ENSP00000434586:R22079W;ENSP00000340554:R22271W;ENSP00000352154:R22204W	ENSP00000340554:R22271W	R	-	1	2	TTN	179121169	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	CGG		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPEG	10290	broad.mit.edu	37	2	220309407	220309407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:220309407G>A	ENST00000312358.7	+	2	553	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.V37M	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	141					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCGATGTGCAGGGAAC	0.622																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(421-423)Gtg>Atg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							52.0	60.0	57.0					2																	220309407		2012	4160	6172	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309407G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.421G>A	2.37:g.220309407G>A	ENSP00000311684:p.Val141Met					SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	p.V141M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	1	421	+		Renal(207;0.0183)	141					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.421G>A	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.05|10.05	1.245182|1.245182	0.22796|0.22796	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	.|T;T;T;T	.|0.63913	.|-0.07;0.77;0.77;0.25	5.03|5.03	3.09|3.09	0.35607|0.35607	.|.	.|1.156430	.|0.06843	.|U	.|0.795972	T|T	0.41328|0.41328	0.1154|0.1154	N|N	0.08118|0.08118	0|0	0.25886|0.25886	N|N	0.983538|0.983538	.|B	.|0.28512	.|0.214	.|B	.|0.28011	.|0.085	T|T	0.36065|0.36065	-0.9763|-0.9763	5|10	.|0.46703	.|T	.|0.11	.|.	5.385|5.385	0.16213|0.16213	0.1877:0.2717:0.5405:0.0|0.1877:0.2717:0.5405:0.0	.|.	.|141	.|Q15772	.|SPEG_HUMAN	Y|M	10|141;141;50;47;37	.|ENSP00000311684:V141M;ENSP00000393134:V50M;ENSP00000410986:V47M;ENSP00000379926:V37M	.|ENSP00000265327:V141M	C|V	+|+	2|1	0|0	SPEG|SPEG	220017651|220017651	0.975000|0.975000	0.34042|0.34042	0.979000|0.979000	0.43373|0.43373	0.984000|0.984000	0.73092|0.73092	1.353000|1.353000	0.34045|0.34045	1.087000|1.087000	0.41251|0.41251	0.442000|0.442000	0.29010|0.29010	TGT|GTG		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
DOCK10	55619	broad.mit.edu	37	2	225706579	225706579	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:225706579T>C	ENST00000258390.7	-	23	2670	c.2603A>G	c.(2602-2604)cAa>cGa	p.Q868R	DOCK10_ENST00000409592.3_Missense_Mutation_p.Q862R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	868					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTCTTTTTTGGCACTCTTG	0.383																																						uc010fwz.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(2602-2604)cAa>cGa		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							268.0	249.0	255.0					2																	225706579		1897	4126	6023	SO:0001583	missense	55619						GTP binding	g.chr2:225706579T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2603A>G	2.37:g.225706579T>C	ENSP00000258390:p.Gln868Arg					DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	p.Q868R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	22	2842	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	868			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2603A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753191	0.89753	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19806	2.12;2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	M	0.70903	2.155	0.48087	D	0.999582	D;D	0.69078	0.995;0.997	D;D	0.72625	0.978;0.909	T	0.47598	-0.9105	10	0.87932	D	0	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	868;862	Q96BY6;B3FL70	DOC10_HUMAN;.	R	862;868	ENSP00000386694:Q862R;ENSP00000258390:Q868R	ENSP00000258390:Q868R	Q	-	2	0	DOCK10	225414823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.499000	0.81566	2.174000	0.68829	0.533000	0.62120	CAA		0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DGKD	8527	broad.mit.edu	37	2	234368926	234368926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234368926G>A	ENST00000264057.2	+	24	2928	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	DGKD_ENST00000409813.3_Missense_Mutation_p.M928I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	972					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2914-2916)atG>atA		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						87.0	79.0	81.0					2																	234368926		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368926G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2916G>A	2.37:g.234368926G>A	ENSP00000264057:p.Met972Ile					DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	p.M972I	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	23	2928	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	972					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2916G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788664	0.16258	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.78364	-0.99;-1.17	4.93	3.12	0.35913	.	0.425083	0.24007	N	0.042416	T	0.41419	0.1158	N	0.00652	-1.29	0.20403	N	0.999909	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33214	-0.9877	10	0.21014	T	0.42	.	4.9917	0.14218	0.132:0.4809:0.3087:0.0784	.	928;972	Q16760-2;Q16760	.;DGKD_HUMAN	I	972;928	ENSP00000264057:M972I;ENSP00000386455:M928I	ENSP00000264057:M972I	M	+	3	0	DGKD	234033665	1.000000	0.71417	0.994000	0.49952	0.551000	0.35334	1.017000	0.29989	0.790000	0.33803	0.563000	0.77884	ATG		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
MSL3P1	151507	broad.mit.edu	37	2	234775617	234775617	+	RNA	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234775617G>A	ENST00000438684.1	-	0	497					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TATAAGGCACGTTCATGCTGG	0.438																																						uc010znf.2																			0											c.(223-225)aaC>aaT		Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.							266.0	205.0	224.0					2																	234775617		692	1591	2283			151507							g.chr2:234775617G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775617G>A							p.N75N							1	463	-									Silent	SNP	ENST00000438684.1	37	c.225C>T																																																																																					0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322	
VPS16	64601	broad.mit.edu	37	20	2846921	2846921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:2846921G>A	ENST00000380445.3	+	23	2407	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	VPS16_ENST00000380469.3_Missense_Mutation_p.V635M|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.V465M	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	779					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGCTTCCCGCGTGGGTCCCGA	0.552																																						uc002whe.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2335-2337)Gtg>Atg		Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.							167.0	140.0	149.0					20																	2846921		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846921G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2335G>A	20.37:g.2846921G>A	ENSP00000369810:p.Val779Met					PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.V635M|VPS16_uc002whg.3_Missense_Mutation_p.V465M	p.V779M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			22	2383	+			779					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2335G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543604	0.86022	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.53423	0.62;0.62;0.62	5.22	5.22	0.72569	Vps16, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.99;0.988;0.993	T	0.68496	-0.5393	10	0.87932	D	0	-22.7601	16.3271	0.82987	0.0:0.0:1.0:0.0	.	255;465;635;779	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	M	779;635;465	ENSP00000369810:V779M;ENSP00000369836:V635M;ENSP00000369808:V465M	ENSP00000369808:V465M	V	+	1	0	VPS16	2794921	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	8.770000	0.91746	2.706000	0.92434	0.561000	0.74099	GTG		0.552	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
RALGAPA2	57186	broad.mit.edu	37	20	20475882	20475882	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:20475882C>A	ENST00000202677.7	-	36	5253	c.5246G>T	c.(5245-5247)tGg>tTg	p.W1749L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1749	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGTTCAGACCAGACGATATG	0.438																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(5245-5247)tGg>tTg		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							119.0	116.0	117.0					20																	20475882		1883	4117	6000	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20475882C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5246G>T	20.37:g.20475882C>A	ENSP00000202677:p.Trp1749Leu					RALGAPA2_uc002wry.3_Missense_Mutation_p.W1364L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.W1197L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W521L	p.W1749L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			35	5389	-			1749			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.5246G>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.117465|5.117465	0.94385|0.94385	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.94576	.|-3.46;-3.46	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98317|0.98317	0.9442|0.9442	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.98799|0.98799	1.0739|1.0739	5|10	.|0.87932	.|D	.|0	.|.	20.2576|20.2576	0.98430|0.98430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1587;1749;1749	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	C|L	1566;160|179;1749	.|ENSP00000408332:W179L;ENSP00000202677:W1749L	.|ENSP00000202677:W1749L	G|W	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20423882|20423882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.764000|7.764000	0.85297|0.85297	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.438	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
CHRNA4	1137	broad.mit.edu	37	20	61978100	61978100	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:61978100C>T	ENST00000370263.4	-	6	2095	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	625					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CTAGATCATGCCAGCCAGCCA	0.677																																						uc002yes.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1873-1875)gGc>gAc		Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	Nicotine(DB00184)|Varenicline(DB01273)						67.0	44.0	52.0					20																	61978100		2201	4298	6499	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978100C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1874G>A	20.37:g.61978100C>T	ENSP00000359285:p.Gly625Asp					CHRNA4_uc002yet.1_Missense_Mutation_p.G449D|CHRNA4_uc010gke.1_Missense_Mutation_p.G554D|CHRNA4_uc002yev.1_Missense_Mutation_p.G449D|CHRNA4_uc010gkf.1_Missense_Mutation_p.G449D	p.G625D	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	2052	-	all_cancers(38;1.71e-10)		625					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1874G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236251	0.95240	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.83075	-1.68	4.43	4.43	0.53597	.	0.167126	0.53938	D	0.000047	T	0.82199	0.4985	N	0.11313	0.125	0.80722	D	1	D;D	0.69078	0.992;0.997	D;P	0.65874	0.939;0.861	D	0.85695	0.1309	10	0.51188	T	0.08	.	17.3789	0.87399	0.0:1.0:0.0:0.0	.	554;625	Q4VAQ5;P43681	.;ACHA4_HUMAN	D	531;625;554	ENSP00000359285:G625D	ENSP00000359280:G531D	G	-	2	0	CHRNA4	61448544	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.869000	0.69613	2.177000	0.69029	0.511000	0.50034	GGC		0.677	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
RFPL2	10739	broad.mit.edu	37	22	32589175	32589175	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr22:32589175G>A	ENST00000400237.1	-	4	1205	c.270C>T	c.(268-270)gaC>gaT	p.D90D	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_5'UTR|RFPL2_ENST00000248980.4_Silent_p.D29D			O75678	RFPL2_HUMAN	ret finger protein-like 2	90							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGCAGCCATGTCCACTGCCA	0.478																																						uc003amg.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(268-270)gaC>gaT		Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.							68.0	71.0	70.0					22																	32589175		2203	4300	6503	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32589175G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.270C>T	22.37:g.32589175G>A						RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	p.D90D	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN			3	1206	-			90						Silent	SNP	ENST00000400237.1	37	c.270C>T	CCDS43009.2																																																																																				0.478	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
IQCF3	401067	broad.mit.edu	37	3	51863721	51863721	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:51863721G>A	ENST00000456080.1	+	7	1224	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	IQCF3_ENST00000437810.2_Missense_Mutation_p.R20Q|IQCF3_ENST00000444293.1_Missense_Mutation_p.R20Q|IQCF3_ENST00000446775.1_Missense_Mutation_p.R20Q|IQCF3_ENST00000440739.2_Missense_Mutation_p.R20Q			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACAGAGGCGGCAGAAGGTA	0.522																																						uc021wyy.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(58-60)cGg>cAg		Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.							98.0	122.0	114.0					3																	51863721		2016	4172	6188	SO:0001583	missense	401067							g.chr3:51863721G>A	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.59G>A	3.37:g.51863721G>A	ENSP00000415609:p.Arg20Gln					IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.R20Q	p.R20Q	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	847	+			20					B2RUV0	Missense_Mutation	SNP	ENST00000456080.1	37	c.59G>A	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	G	5.906	0.351287	0.11182	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739;ENST00000444293	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	3.59	-7.19	0.01500	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.11485	T	0.65	.	4.6047	0.12371	0.2764:0.0:0.2618:0.4618	.	20	P0C7M6	IQCF3_HUMAN	Q	20	ENSP00000415609:R20Q;ENSP00000409373:R20Q;ENSP00000401767:R20Q;ENSP00000402012:R20Q	ENSP00000409373:R20Q	R	+	2	0	IQCF3	51838761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.272000	0.02826	-2.364000	0.00607	-2.279000	0.00272	CGG		0.522	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479	
POU1F1	5449	broad.mit.edu	37	3	87325559	87325559	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:87325559G>A	ENST00000350375.2	-	1	178	c.54C>T	c.(52-54)gaC>gaT	p.D18D	POU1F1_ENST00000344265.3_Silent_p.D18D|POU1F1_ENST00000560656.1_Silent_p.D18D	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	18					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTGCAGAGGCGTCAGAATTCA	0.478																																						uc010hoj.1																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(52-54)gaC>gaT		Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.							109.0	110.0	110.0					3																	87325559		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325559G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.54C>T	3.37:g.87325559G>A						POU1F1_uc003dqq.1_Silent_p.D18D	p.D18D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	0	179	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	18					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.54C>T	CCDS2919.1																																																																																				0.478	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
UROC1	131669	broad.mit.edu	37	3	126219669	126219669	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:126219669G>C	ENST00000290868.2	-	11	1067	c.1014C>G	c.(1012-1014)gaC>gaG	p.D338E	UROC1_ENST00000383579.3_Missense_Mutation_p.D398E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	338					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGACCCCAGGTCCACCAAGC	0.632																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1192-1194)gaC>gaG		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.							100.0	91.0	94.0					3																	126219669		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219669G>C	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1014C>G	3.37:g.126219669G>C	ENSP00000290868:p.Asp338Glu					UROC1_uc003eiz.2_Missense_Mutation_p.D338E	p.D398E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1248	-			338					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1194C>G	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	12.04	1.818201	0.32145	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.53640	0.61;0.61	4.94	2.62	0.31277	Urocanase domain (2);	0.218728	0.46145	D	0.000310	T	0.40297	0.1111	L	0.49350	1.555	0.45261	D	0.998262	B;B	0.16396	0.017;0.001	B;B	0.28553	0.091;0.026	T	0.13388	-1.0511	10	0.30854	T	0.27	-15.5785	8.1932	0.31381	0.1793:0.0:0.8207:0.0	.	398;338	E9PE13;Q96N76	.;HUTU_HUMAN	E	338;398	ENSP00000290868:D338E;ENSP00000373073:D398E	ENSP00000290868:D338E	D	-	3	2	UROC1	127702359	0.998000	0.40836	1.000000	0.80357	0.918000	0.54935	0.608000	0.24223	0.255000	0.21593	0.486000	0.48141	GAC		0.632	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
ATR	545	broad.mit.edu	37	3	142280158	142280158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:142280158C>T	ENST00000350721.4	-	5	1397	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	ATR_ENST00000383101.3_Missense_Mutation_p.G426R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	426					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTGATATTCCATCACTATTA	0.418								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1276-1278)Gga>Aga	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							239.0	220.0	226.0					3																	142280158		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142280158C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1276G>A	3.37:g.142280158C>T	ENSP00000343741:p.Gly426Arg						p.G426R	NM_001184	NP_001175	Q13535	ATR_HUMAN			4	1398	-			426					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1276G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550561	0.65311	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.03496	4.0;3.91	5.05	5.05	0.67936	Armadillo-type fold (1);	0.610047	0.15965	N	0.236055	T	0.04861	0.0131	L	0.27053	0.805	0.22531	N	0.999015	P	0.41366	0.747	B	0.40782	0.34	T	0.43360	-0.9396	10	0.38643	T	0.18	-0.5537	17.5189	0.87782	0.0:1.0:0.0:0.0	.	426	Q13535	ATR_HUMAN	R	426;426;107	ENSP00000343741:G426R;ENSP00000372581:G426R	ENSP00000343741:G426R	G	-	1	0	ATR	143762848	0.998000	0.40836	0.062000	0.19696	0.943000	0.58893	4.035000	0.57297	2.514000	0.84764	0.491000	0.48974	GGA		0.418	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
MAP3K13	9175	broad.mit.edu	37	3	185165672	185165672	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:185165672C>A	ENST00000265026.3	+	5	1281	c.947C>A	c.(946-948)aCg>aAg	p.T316K	MAP3K13_ENST00000443863.1_Missense_Mutation_p.T172K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T316K|MAP3K13_ENST00000446828.1_Missense_Mutation_p.T109K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.T172K	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTGCTGGCACGGTCGCATGG	0.443																																						uc010hyf.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(946-948)aCg>aAg		Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.							74.0	71.0	72.0					3																	185165672		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185165672C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.947C>A	3.37:g.185165672C>A	ENSP00000265026:p.Thr316Lys					MAP3K13_uc011brt.2_Missense_Mutation_p.T109K|MAP3K13_uc003fph.4_Missense_Mutation_p.T84K|MAP3K13_uc011bru.2_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.3_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.3_Missense_Mutation_p.T6K	p.T316K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		5	1238	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		316			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.947C>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680622	0.88542	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;D;D;D;D;T	0.92495	0.81;-3.05;-3.05;-3.05;-3.05;-0.58	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96551	0.9408	10	0.87932	D	0	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	172;109;316	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	K	109;316;172;172;316;61	ENSP00000411483:T109K;ENSP00000399910:T316K;ENSP00000409325:T172K;ENSP00000439257:T172K;ENSP00000265026:T316K;ENSP00000415712:T61K	ENSP00000265026:T316K	T	+	2	0	MAP3K13	186648366	1.000000	0.71417	0.980000	0.43619	0.509000	0.34042	7.784000	0.85713	2.779000	0.95612	0.650000	0.86243	ACG		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
KNG1	3827	broad.mit.edu	37	3	186457116	186457116	+	Splice_Site	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:186457116G>A	ENST00000265023.4	+	9	1250		c.e9-1		RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Splice_Site|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Splice_Site	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTCATGGATAGCAAAGCCTAG	0.373																																						uc011bsa.2																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.e9-1		Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	Ouabain(DB01092)						105.0	100.0	102.0					3																	186457116		2203	4300	6503	SO:0001630	splice_region_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186457116G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1039-1G>A	3.37:g.186457116G>A						KNG1_uc003fqr.3_Splice_Site_p.Q347_splice|KNG1_uc021xil.1_Splice_Site_p.Q311_splice	p.Q347_splice	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1273	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		347			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Splice_Site	SNP	ENST00000265023.4	37	c.1039_splice	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800253	0.31869	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1087	0.59261	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KNG1	187939810	0.797000	0.28877	0.125000	0.21846	0.122000	0.20287	3.795000	0.55499	2.811000	0.96726	0.557000	0.71058	.		0.373	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	Intron
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(679-681)Gcc>Acc		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							123.0	120.0	121.0					3																	189582120		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	3.37:g.189582120G>A	ENSP00000264731:p.Ala227Thr	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.A227T|TP63_uc003frz.2_Missense_Mutation_p.A227T|TP63_uc010hzc.1_Missense_Mutation_p.A227T|TP63_uc003fsa.2_Missense_Mutation_p.A133T|TP63_uc003fsb.2_Missense_Mutation_p.A133T|TP63_uc003fsc.2_Missense_Mutation_p.A133T|TP63_uc003fsd.2_Missense_Mutation_p.A133T|TP63_uc021xir.1_Missense_Mutation_p.A133T|TP63_uc010hzd.1_Missense_Mutation_p.A48T|TP63_uc003fse.1_Missense_Mutation_p.A108T	p.A227T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		227					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.679G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	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	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
JAKMIP1	152789	broad.mit.edu	37	4	6107274	6107274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:6107274G>A	ENST00000282924.5	-	3	1035	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R184C|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R184C|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	184	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCGGCACGCAGGTCGGCT	0.682																																						uc010idb.1																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(550-552)Cgt>Tgt		Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.							25.0	22.0	23.0					4																	6107274		2202	4298	6500	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107274G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.550C>T	4.37:g.6107274G>A	ENSP00000282924:p.Arg184Cys					JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc003giu.4_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.3_Missense_Mutation_p.R184C	p.R184C	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN			2	1036	-			184			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.550C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582610	0.65992	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831	T;T;T	0.37915	1.17;1.17;1.17	4.5	2.6	0.31112	.	0.000000	0.64402	D	0.000003	T	0.56673	0.2001	M	0.81497	2.545	0.80722	D	1	D;B;D	0.89917	1.0;0.025;1.0	D;B;D	0.85130	0.997;0.007;0.997	T	0.58831	-0.7567	10	0.87932	D	0	.	7.818	0.29271	0.0872:0.0:0.7526:0.1602	.	184;184;184	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	C	184;184;184;76;184;184	ENSP00000386711:R184C;ENSP00000282924:R184C;ENSP00000386925:R184C	ENSP00000282924:R184C	R	-	1	0	JAKMIP1	6158175	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	3.962000	0.56766	1.013000	0.39391	0.484000	0.47621	CGT		0.682	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
CENPE	1062	broad.mit.edu	37	4	104079809	104079809	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:104079809C>T	ENST00000265148.3	-	23	2925	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CENPE_ENST00000380026.3_Missense_Mutation_p.D921N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	946					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGTTGGTCCCTCTCAATT	0.333																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2836-2838)Gac>Aac		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							153.0	142.0	146.0					4																	104079809		2203	4299	6502	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104079809C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2836G>A	4.37:g.104079809C>T	ENSP00000265148:p.Asp946Asn					CENPE_uc003hxc.1_Missense_Mutation_p.D921N	p.D946N	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	22	2926	-			946					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2836G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126094	0.56721	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94138	-3.36;-3.36;-3.36	5.12	5.12	0.69794	.	.	.	.	.	D	0.95862	0.8653	L	0.61387	1.9	0.48901	D	0.999727	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.922	D	0.95999	0.8992	9	0.62326	D	0.03	.	16.7007	0.85349	0.0:1.0:0.0:0.0	.	921;946	Q02224-3;Q02224	.;CENPE_HUMAN	N	946;946;921;946	ENSP00000265148:D946N;ENSP00000369365:D921N;ENSP00000423981:D946N	ENSP00000265148:D946N	D	-	1	0	CENPE	104299258	0.996000	0.38824	0.985000	0.45067	0.963000	0.63663	4.273000	0.58914	2.528000	0.85240	0.650000	0.86243	GAC		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
EXOSC9	5393	broad.mit.edu	37	4	122735086	122735086	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:122735086G>C	ENST00000243498.5	+	10	1148	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S	EXOSC9_ENST00000512454.1_Missense_Mutation_p.W331S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.W347S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	347					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAAACTCCTGGGGTGATCTT	0.413																																						uc003iea.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(1039-1041)tGg>tCg		Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.							131.0	130.0	130.0					4																	122735086		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122735086G>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1040G>C	4.37:g.122735086G>C	ENSP00000243498:p.Trp347Ser					EXOSC9_uc003idz.3_Missense_Mutation_p.W347S|EXOSC9_uc003ieb.3_Missense_Mutation_p.W331S|EXOSC9_uc010inp.1_Non-coding_Transcript	p.W347S	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			9	1148	+			347					Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.1040G>C	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265400	0.80358	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.54866	0.63;0.55;0.59	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.71073	-0.4698	10	0.52906	T	0.07	-13.8262	19.9944	0.97379	0.0:0.0:1.0:0.0	.	331;347;347	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	S	347;347;331	ENSP00000243498:W347S;ENSP00000368984:W347S;ENSP00000425782:W331S	ENSP00000243498:W347S	W	+	2	0	EXOSC9	122954536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.578000	0.82498	2.720000	0.93068	0.557000	0.71058	TGG		0.413	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033	
GYPB	2994	broad.mit.edu	37	4	145038021	145038021	+	Intron	SNP	G	G	A	rs572116498		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:145038021G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Missense_Mutation_p.R102C|GYPA_ENST00000504786.1_Missense_Mutation_p.R83C|GYPA_ENST00000324022.10_Missense_Mutation_p.R82C|GYPA_ENST00000512789.1_Missense_Mutation_p.R50C|GYPA_ENST00000503627.1_Missense_Mutation_p.R70C|GYPA_ENST00000535709.1_Missense_Mutation_p.R89C|GYPA_ENST00000360771.4_Missense_Mutation_p.R115C|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ATCAGTCGGCGAATACCGTAA	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		16074	0.0		0.0	False		,,,				2504	0.001					uc003ijo.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(343-345)Cgc>Tgc		Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.							115.0	117.0	117.0					4																	145038021		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038021G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23730C>T	4.37:g.145038021G>A						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	p.R115C	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	459	-	all_hematologic(180;0.15)		115					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.343C>T		.	.	.	.	.	.	.	.	.	.	g	4.928	0.172363	0.09391	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.79	-9.57	0.00562	.	1.769880	0.03134	N	0.165531	T	0.30008	0.0751	L	0.52573	1.65	0.09310	N	1	D;D;D;D;B	0.76494	0.999;0.999;0.999;0.999;0.044	D;P;P;D;B	0.63192	0.912;0.848;0.848;0.912;0.016	T	0.66858	-0.5817	10	0.51188	T	0.08	2.451	2.9943	0.05993	0.1767:0.1987:0.4051:0.2195	.	82;50;102;83;115	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	C	115;82;89;102;50;83;70	ENSP00000354003:R115C;ENSP00000324483:R82C;ENSP00000445398:R89C;ENSP00000426130:R102C;ENSP00000425193:R50C;ENSP00000425549:R83C;ENSP00000421243:R70C	ENSP00000324483:R82C	R	-	1	0	GYPA	145257471	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.788000	0.00185	-7.582000	0.00001	-1.987000	0.00451	CGC		0.368	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100	
ADAM29	11086	broad.mit.edu	37	4	175897195	175897195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:175897195C>A	ENST00000359240.3	+	5	1189	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.C173*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.C173*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.C173*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	173					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATAACATGCCGAATGGAAT	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(517-519)tgC>tgA		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							85.0	87.0	86.0					4																	175897195		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897195C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.519C>A	4.37:g.175897195C>A	ENSP00000352177:p.Cys173*					ADAM29_uc003iud.3_Nonsense_Mutation_p.C173*|ADAM29_uc010irr.3_Nonsense_Mutation_p.C173*|ADAM29_uc011cki.2_Nonsense_Mutation_p.C173*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.C173*	p.C173*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1189	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	173					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.519C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381950	0.82792	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.53	-0.536	0.11876	.	2.051170	0.03070	U	0.157019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.656	0.05012	0.1761:0.3733:0.3441:0.1066	.	.	.	.	X	173	.	.	C	+	3	2	ADAM29	176133770	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.856000	0.01662	-0.149000	0.11215	0.643000	0.83706	TGC		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
CCDC110	256309	broad.mit.edu	37	4	186381243	186381243	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:186381243G>A	ENST00000307588.3	-	6	573	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CCDC110_ENST00000510617.1_Silent_p.S166S|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Silent_p.S129S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	166						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTGTCCTCGGAATGTATCT	0.348																																						uc003ixu.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(496-498)tcC>tcT		Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.							116.0	113.0	114.0					4																	186381243		2203	4300	6503	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186381243G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.498C>T	4.37:g.186381243G>A						CCDC110_uc003ixv.4_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	p.S166S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	574	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	166					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.498C>T	CCDS3843.1																																																																																				0.348	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
ADCY2	108	broad.mit.edu	37	5	7743842	7743842	+	Missense_Mutation	SNP	G	G	A	rs202064623	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:7743842G>A	ENST00000338316.4	+	15	2022	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.V465I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	645					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCCTCTTCGTCTGCTTTGC	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		17719	0.002		0.0	False		,,,				2504	0.0					uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1933-1935)Gtc>Atc		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.							319.0	285.0	297.0					5																	7743842		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7743842G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1933G>A	5.37:g.7743842G>A	ENSP00000342952:p.Val645Ile					ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	p.V645I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	2000	+			645					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1933G>A	CCDS3872.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.102	0.776967	0.16120	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.80994	-0.94;-1.44	5.48	1.03	0.20045	.	0.387188	0.27526	N	0.018980	T	0.55752	0.1940	N	0.15975	0.35	0.27448	N	0.953532	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31998	-0.9923	10	0.10111	T	0.7	.	3.677	0.08295	0.3719:0.1837:0.4444:0.0	.	465;645	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	645;478;465	ENSP00000342952:V645I;ENSP00000444803:V465I	ENSP00000342952:V645I	V	+	1	0	ADCY2	7796842	0.996000	0.38824	0.942000	0.38095	0.631000	0.37964	0.829000	0.27449	0.355000	0.24131	-0.234000	0.12200	GTC		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PDZD2	23037	broad.mit.edu	37	5	31995769	31995769	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:31995769C>T	ENST00000438447.1	+	4	1454	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R356C			O15018	PDZD2_HUMAN	PDZ domain containing 2	356	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGATCAAAGCGCTCACCTCA	0.532																																						uc003jhl.3																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1066-1068)Cgc>Tgc		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.							181.0	164.0	170.0					5																	31995769		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31995769C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1066C>T	5.37:g.31995769C>T	ENSP00000402033:p.Arg356Cys					PDZD2_uc003jhm.3_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	p.R356C	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	1454	+			356			PDZ 2.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1066C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689244	0.68271	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.39787	1.06;1.06	5.04	5.04	0.67666	PDZ/DHR/GLGF (4);	0.000000	0.41097	D	0.000945	T	0.56529	0.1991	L	0.52364	1.645	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58858	-0.7562	10	0.87932	D	0	.	11.0602	0.47942	0.1853:0.8147:0.0:0.0	.	182;356	B4E3P2;O15018	.;PDZD2_HUMAN	C	356	ENSP00000402033:R356C;ENSP00000282493:R356C	ENSP00000282493:R356C	R	+	1	0	PDZD2	32031526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.809000	0.38922	2.339000	0.79563	0.467000	0.42956	CGC		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
ADAMTS12	81792	broad.mit.edu	37	5	33576992	33576992	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33576992C>T	ENST00000504830.1	-	19	3474	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCTGATTGCTGGAGTGCTT	0.552										HNSCC(64;0.19)																												uc003jia.1																			0		p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3139-3141)Gca>Aca		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							142.0	136.0	138.0					5																	33576992		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576992C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3139G>A	5.37:g.33576992C>T	ENSP00000422554:p.Ala1047Thr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	p.A1047T	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	3302	-			1047			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3139G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052376	0.01981	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58652	0.32;0.32	5.08	-0.819	0.10829	.	0.931548	0.09099	N	0.848747	T	0.29652	0.0740	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20840	-1.0263	10	0.14252	T	0.57	.	6.8574	0.24048	0.0:0.4053:0.1213:0.4734	.	962;1047	P58397-3;P58397	.;ATS12_HUMAN	T	1047;962	ENSP00000422554:A1047T;ENSP00000344847:A962T	ENSP00000344847:A962T	A	-	1	0	ADAMTS12	33612749	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.625000	0.05534	-0.047000	0.13423	0.655000	0.94253	GCA		0.552	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33684033	33684033	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33684033G>A	ENST00000504830.1	-	4	1097	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.A254A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	254	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTGTGTCGGCCACCACCA	0.547										HNSCC(64;0.19)																												uc003jia.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(760-762)gcC>gcT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.							136.0	126.0	130.0					5																	33684033		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684033G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.762C>T	5.37:g.33684033G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.A254A	p.A254A	NM_030955	NP_112217	P58397	ATS12_HUMAN			3	925	-			254			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.762C>T	CCDS34140.1																																																																																				0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
OSMR	9180	broad.mit.edu	37	5	38924670	38924670	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:38924670C>T	ENST00000274276.3	+	14	2419	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	673	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGA	0.358																																						uc003jln.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2017-2019)Cca>Tca		Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.							137.0	125.0	129.0					5																	38924670		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38924670C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2017C>T	5.37:g.38924670C>T	ENSP00000274276:p.Pro673Ser					OSMR_uc011cpj.2_5'UTR	p.P673S	NM_003999	NP_003990	Q99650	OSMR_HUMAN			13	2419	+	all_lung(31;0.000365)		673			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2017C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	8.524	0.869446	0.17322	.	.	ENSG00000145623	ENST00000274276	T	0.42900	0.96	5.91	2.8	0.32819	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.704510	0.02228	N	0.064668	T	0.33818	0.0876	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.20974	-1.0259	10	0.07482	T	0.82	.	5.6933	0.17841	0.1411:0.6384:0.0:0.2204	.	673	Q99650	OSMR_HUMAN	S	673	ENSP00000274276:P673S	ENSP00000274276:P673S	P	+	1	0	OSMR	38960427	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.280000	0.08468	0.664000	0.31047	0.655000	0.94253	CCA		0.358	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
CMYA5	202333	broad.mit.edu	37	5	79035031	79035031	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:79035031G>A	ENST00000446378.2	+	2	10474	c.10443G>A	c.(10441-10443)ttG>ttA	p.L3481L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3481					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAGTTGGGCAGCGAGA	0.403																																						uc003kgc.3																			0		p.E3480*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10441-10443)ttG>ttA		Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.							78.0	70.0	72.0					5																	79035031		1898	4126	6024	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79035031G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10443G>A	5.37:g.79035031G>A							p.L3481L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	1	10515	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3481					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.10443G>A	CCDS47238.1																																																																																				0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CTNNA1	1495	broad.mit.edu	37	5	138253458	138253458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:138253458G>A	ENST00000302763.7	+	11	1507	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A370T|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A473T|CTNNA1_ENST00000540387.1_Missense_Mutation_p.A103T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	473				A -> P (in Ref. 3; AAA86430/AAA18949). {ECO:0000305}.	adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTTTAGCAGCAAAACCACA	0.388																																						uc003ldh.3																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1417-1419)Gca>Aca		Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.							152.0	158.0	156.0					5																	138253458		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138253458G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1417G>A	5.37:g.138253458G>A	ENSP00000304669:p.Ala473Thr					CTNNA1_uc011cyx.2_Missense_Mutation_p.A370T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A350T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A171T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A473T|CTNNA1_uc003ldl.3_Missense_Mutation_p.A103T	p.A473T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1512	+			473	A -> P (in Ref. 3; AAA86430/AAA18949).				Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1417G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790473	0.96945	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000522013;ENST00000523298;ENST00000517533;ENST00000523685;ENST00000540387	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.80183	2.485	0.80722	D	1	D;P;P	0.56035	0.974;0.597;0.935	P;B;P	0.61003	0.788;0.287;0.882	T	0.56202	-0.8018	10	0.22706	T	0.39	-8.0628	18.7434	0.91782	0.0:0.0:1.0:0.0	.	473;350;473	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	T	370;473;473;458;473;103;103;103;103;103	ENSP00000347190:A370T;ENSP00000304669:A473T;ENSP00000427821:A473T;ENSP00000430379:A103T;ENSP00000428044:A103T;ENSP00000431118:A103T;ENSP00000430240:A103T;ENSP00000438476:A103T	ENSP00000304669:A473T	A	+	1	0	CTNNA1	138281357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.532000	0.85374	0.650000	0.86243	GCA		0.388	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
PCDHA8	56140	broad.mit.edu	37	5	140222780	140222780	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140222780G>T	ENST00000531613.1	+	1	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHA8_ENST00000378123.3_Missense_Mutation_p.G625V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	625	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)			TTCCGCGTGGGGCTGTACACG	0.652																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1873-1875)gGg>gTg		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							105.0	103.0	104.0					5																	140222780		2198	4270	6468	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222780G>T	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.1874G>T	5.37:g.140222780G>T	ENSP00000434655:p.Gly625Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G625V	p.G625V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1874	+			636			Cadherin 6.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1874G>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178435	0.38511	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.21543	2.0;2.0	2.93	2.02	0.26589	Cadherin (4);Cadherin-like (1);	0.443885	0.16053	U	0.231876	T	0.48572	0.1507	M	0.86953	2.85	0.48087	D	0.999582	D;D	0.76494	0.992;0.999	D;D	0.69824	0.934;0.966	T	0.54443	-0.8293	10	0.87932	D	0	.	11.8088	0.52171	0.0:0.1794:0.8206:0.0	.	625;625	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	625	ENSP00000434655:G625V;ENSP00000367363:G625V	ENSP00000367363:G625V	G	+	2	0	PCDHA8	140202964	0.138000	0.22547	0.998000	0.56505	0.148000	0.21650	0.769000	0.26604	0.520000	0.28426	0.313000	0.20887	GGG		0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHB7	56129	broad.mit.edu	37	5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140554382G>A	ENST00000231137.3	+	1	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706																																						uc003lit.3																			0		p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1966-1968)Gcc>Acc		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							28.0	45.0	39.0					5																	140554382		2129	4219	6348	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554382G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1966G>A	5.37:g.140554382G>A	ENSP00000231137:p.Ala656Thr					PCDHB8_uc011dai.2_5'Flank	p.A656T	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2140	+			656			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1966G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342830	0.24339	.	.	ENSG00000113212	ENST00000231137	T	0.50548	0.74	3.98	3.08	0.35506	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46092	0.1375	M	0.62154	1.92	0.09310	N	1	B	0.21606	0.058	B	0.18871	0.023	T	0.46721	-0.9171	9	0.66056	D	0.02	.	12.1384	0.53984	0.0921:0.0:0.9079:0.0	.	656	Q9Y5E2	PCDB7_HUMAN	T	656	ENSP00000231137:A656T	ENSP00000231137:A656T	A	+	1	0	PCDHB7	140534566	0.000000	0.05858	0.998000	0.56505	0.244000	0.25665	0.320000	0.19540	1.922000	0.55676	0.449000	0.29647	GCC		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
NMUR2	56923	broad.mit.edu	37	5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:151771915C>T	ENST00000255262.3	-	4	1250	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	362					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.R362Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532																																						uc003luv.2																			1	Substitution - Missense(1)	p.R362Q(2)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1084-1086)cGg>cAg		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							147.0	134.0	139.0					5																	151771915		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151771915C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.1085G>A	5.37:g.151771915C>T	ENSP00000255262:p.Arg362Gln						p.R362Q	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		3	1251	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	362					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.1085G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	c	5.729	0.319037	0.10845	.	.	ENSG00000132911	ENST00000255262	T	0.70282	-0.47	4.57	-5.38	0.02673	.	1.011270	0.07935	N	0.978297	T	0.53578	0.1805	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	10	0.09590	T	0.72	-2.7318	10.2324	0.43262	0.0:0.1589:0.1174:0.7238	.	362	Q9GZQ4	NMUR2_HUMAN	Q	362	ENSP00000255262:R362Q	ENSP00000255262:R362Q	R	-	2	0	NMUR2	151752108	0.049000	0.20398	0.241000	0.24154	0.149000	0.21700	-0.532000	0.06164	-0.790000	0.04492	-1.399000	0.01144	CGG		0.532	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000376724.2_Silent_p.A189A|TRIM40_ENST00000307859.4_Silent_p.A160A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597																																						uc003npk.2																			0				ovary(1)	1						c.(565-567)gcG>gcA		Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.							76.0	68.0	71.0					6																	30114887		2203	4300	6503	SO:0001819	synonymous_variant	135644					intracellular	zinc ion binding	g.chr6:30114887G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.567G>A	6.37:g.30114887G>A						TRIM40_uc003npm.2_Silent_p.A160A	p.A189A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			3	953	+			189					Q5SRJ6|Q5SS36|Q8TD96	Silent	SNP	ENST00000396581.1	37	c.567G>A																																																																																					0.597	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2		
TRIM10	10107	broad.mit.edu	37	6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30127012T>C	ENST00000449742.2	-	2	515	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_ENST00000376704.3_Missense_Mutation_p.H147R	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	147					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403																																						uc003npo.3																			0				ovary(1)	1						c.(439-441)cAt>cGt		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							82.0	87.0	85.0					6																	30127012		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30127012T>C	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.440A>G	6.37:g.30127012T>C	ENSP00000397073:p.His147Arg					TRIM10_uc003npn.2_Missense_Mutation_p.H147R	p.H147R	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			1	516	-			147					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.440A>G	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	T	0.051	-1.250247	0.01469	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	D;D	0.81908	-1.55;-1.55	5.2	2.67	0.31697	.	0.557786	0.16413	N	0.215511	T	0.47488	0.1448	N	0.19112	0.55	0.19300	N	0.999973	B;P	0.34724	0.049;0.465	B;B	0.31101	0.024;0.124	T	0.34775	-0.9815	10	0.46703	T	0.11	.	3.8805	0.09076	0.1854:0.0989:0.0:0.7157	.	147;147	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	R	147	ENSP00000397073:H147R;ENSP00000365894:H147R	ENSP00000365894:H147R	H	-	2	0	TRIM10	30234991	0.820000	0.29190	0.988000	0.46212	0.310000	0.27922	0.875000	0.28079	0.827000	0.34685	0.523000	0.50628	CAT		0.403	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
GPR115	221393	broad.mit.edu	37	6	47681719	47681719	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:47681719C>A	ENST00000283303.2	+	6	996	c.738C>A	c.(736-738)caC>caA	p.H246Q	GPR115_ENST00000327753.3_Missense_Mutation_p.H246Q|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.H303Q	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	246					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGGTTTCACATCAACCATA	0.393																																					GBM(22;431 510 9010 26644 32828)	uc003oyz.1																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(907-909)caC>caA		Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.							85.0	82.0	83.0					6																	47681719		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681719C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.738C>A	6.37:g.47681719C>A	ENSP00000283303:p.His246Gln					GPR115_uc003oza.1_Missense_Mutation_p.H246Q|GPR115_uc003ozb.1_Missense_Mutation_p.H246Q|RN7SK_uc021zaf.1_5'Flank	p.H303Q	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	909	+			246					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.909C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	0.921	-0.715903	0.03206	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.32988	1.66;1.43;1.43	5.19	-0.121	0.13535	.	0.991144	0.08218	N	0.979579	T	0.05593	0.0147	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.21546	0.035	T	0.40308	-0.9570	10	0.15066	T	0.55	-0.2592	2.0729	0.03618	0.208:0.4135:0.2234:0.1552	.	246	Q8IZF3	GP115_HUMAN	Q	303;246;246	ENSP00000360264:H303Q;ENSP00000328319:H246Q;ENSP00000283303:H246Q	ENSP00000283303:H246Q	H	+	3	2	GPR115	47789678	0.033000	0.19621	0.242000	0.24170	0.290000	0.27261	-0.095000	0.11077	0.268000	0.21939	-0.165000	0.13383	CAC		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
DOPEY1	23033	broad.mit.edu	37	6	83830474	83830474	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:83830474C>T	ENST00000349129.2	+	10	1323	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R346C|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R346C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGCCTTTTCGCATTTTAAT	0.368																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(1036-1038)Cgc>Tgc		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							134.0	126.0	128.0					6																	83830474		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83830474C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1063C>T	6.37:g.83830474C>T	ENSP00000195654:p.Arg355Cys					DOPEY1_uc003pjs.1_Missense_Mutation_p.R355C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	p.R346C	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	9	1296	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	355					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1036C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196724	0.94960	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.50001	0.77;0.8;0.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.995	T	0.71632	-0.4534	10	0.87932	D	0	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	252;346;355	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	C	355;346;346	ENSP00000195654:R355C;ENSP00000237163:R346C;ENSP00000358754:R346C	ENSP00000237163:R346C	R	+	1	0	DOPEY1	83887193	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.625000	0.83145	2.707000	0.92482	0.557000	0.71058	CGC		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
AIM1	202	broad.mit.edu	37	6	106978130	106978130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:106978130A>C	ENST00000369066.3	+	6	3921	c.3434A>C	c.(3433-3435)gAa>gCa	p.E1145A		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATGATACTGAAGAAATGCAG	0.328																																						uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3433-3435)gAa>gCa		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							167.0	158.0	161.0					6																	106978130		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106978130A>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3434A>C	6.37:g.106978130A>C	ENSP00000358062:p.Glu1145Ala						p.E1145A	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	4346	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1145			Beta/gamma crystallin 'Greek key' 3.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3434A>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087682	0.76642	.	.	ENSG00000112297	ENST00000369066	T	0.75589	-0.95	5.21	5.21	0.72293	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.254525	0.44285	D	0.000470	T	0.67841	0.2936	L	0.54323	1.7	0.80722	D	1	P	0.36647	0.563	B	0.44224	0.444	T	0.71839	-0.4471	10	0.48119	T	0.1	.	15.0819	0.72122	1.0:0.0:0.0:0.0	.	1145	Q9Y4K1	AIM1_HUMAN	A	1145	ENSP00000358062:E1145A	ENSP00000358062:E1145A	E	+	2	0	AIM1	107084823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.933000	0.63484	1.964000	0.57103	0.460000	0.39030	GAA		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
ELMO1	9844	broad.mit.edu	37	7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37253052C>T	ENST00000310758.4	-	12	1489	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R281Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R281Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	281					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)			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						CCGCTGGGCTCGGATGACATG	0.433																																						uc022abv.1																			0		p.I280I(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.(841-843)cGa>cAa		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							71.0	58.0	62.0					7																	37253052		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.chr7:37253052C>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.842G>A	7.37:g.37253052C>T	ENSP00000312185:p.Arg281Gln					ELMO1_uc011kbc.2_Missense_Mutation_p.R185Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R281Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R281Q	p.R281Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			11	1552	-			281					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.842G>A	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.81|17.81	3.480828|3.480828	0.63849|0.63849	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.31769	.|2.41;2.41;2.41;1.48	5.2|5.2	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22551|0.22551	0.0544|0.0544	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P	.|0.47191	.|0.891	.|B	.|0.37508	.|0.252	T|T	0.02728|0.02728	-1.1118|-1.1118	5|10	.|0.26408	.|T	.|0.33	.|.	15.7114|15.7114	0.77631|0.77631	0.1382:0.8618:0.0:0.0|0.1382:0.8618:0.0:0.0	.|.	.|281	.|Q92556	.|ELMO1_HUMAN	K|Q	61|281;185;281;281;22	.|ENSP00000312185:R281Q;ENSP00000406952:R281Q;ENSP00000394458:R281Q;ENSP00000395933:R22Q	.|ENSP00000312185:R281Q	E|R	-|-	1|2	0|0	ELMO1|ELMO1	37219577|37219577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.556000|7.556000	0.82233|0.82233	1.470000|1.470000	0.48102|0.48102	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
ELMO1	9844	broad.mit.edu	37	7	37298915	37298915	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37298915G>A	ENST00000310758.4	-	6	931	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ELMO1_ENST00000448602.1_Missense_Mutation_p.S95L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S95L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	95					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)			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						ATCCATACTCGAGGACTGGAT	0.522																																						uc022abv.1																			0		p.S95S(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.(283-285)tCg>tTg		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							79.0	71.0	74.0					7																	37298915		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.chr7:37298915G>A	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.284C>T	7.37:g.37298915G>A	ENSP00000312185:p.Ser95Leu					ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.S95L|ELMO1_uc010kxg.2_Missense_Mutation_p.S95L	p.S95L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			5	994	-			95					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.284C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190540	0.78789	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.58101	1.795	0.80722	D	1	B	0.24092	0.097	B	0.20577	0.03	T	0.48790	-0.9004	10	0.40728	T	0.16	.	19.5605	0.95369	0.0:0.0:1.0:0.0	.	95	Q92556	ELMO1_HUMAN	L	95	ENSP00000312185:S95L;ENSP00000406952:S95L;ENSP00000394458:S95L;ENSP00000406610:S95L;ENSP00000416090:S95L	ENSP00000312185:S95L	S	-	2	0	ELMO1	37265440	1.000000	0.71417	0.373000	0.26003	0.985000	0.73830	6.663000	0.74431	2.713000	0.92767	0.591000	0.81541	TCG		0.522	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
WBSCR17	64409	broad.mit.edu	37	7	70881029	70881029	+	Silent	SNP	C	C	T	rs566090840		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:70881029C>T	ENST00000333538.5	+	4	1378	c.744C>T	c.(742-744)caC>caT	p.H248H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	248	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGATGCCCACGTGGAATTCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		16174	0.0		0.0	False		,,,				2504	0.001					uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(742-744)caC>caT		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							69.0	58.0	62.0					7																	70881029		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70881029C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.744C>T	7.37:g.70881029C>T						WBSCR17_uc003tvz.3_5'UTR	p.H248H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	744	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	248			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.744C>T	CCDS5540.1																																																																																				0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
NSUN5	55695	broad.mit.edu	37	7	72721634	72721634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:72721634G>A	ENST00000252594.6	-	3	352	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	NSUN5_ENST00000310326.8_Missense_Mutation_p.R113W|NSUN5_ENST00000438747.2_Missense_Mutation_p.R113W|NSUN5_ENST00000428206.1_Missense_Mutation_p.R75W			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	113					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCACACCCCGATGAACCTTG	0.637																																						uc003txw.3																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(337-339)Cgg>Tgg		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.							60.0	50.0	54.0					7																	72721634		2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72721634G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.337C>T	7.37:g.72721634G>A	ENSP00000252594:p.Arg113Trp					FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R113W|NSUN5_uc003txv.3_Missense_Mutation_p.R113W|NSUN5_uc003txx.3_Missense_Mutation_p.R75W	p.R113W	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			2	414	-		Lung NSC(55;0.163)	113					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.337C>T	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642068	0.67244	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.16196	2.42;2.36;2.56;2.56	4.18	4.18	0.49190	.	0.201470	0.42548	D	0.000690	T	0.40522	0.1120	M	0.86343	2.81	0.32942	D	0.518594	D;D;D;D	0.76494	0.998;0.999;0.994;0.999	P;P;P;P	0.61397	0.836;0.857;0.724;0.888	T	0.58070	-0.7701	10	0.44086	T	0.13	.	11.0497	0.47880	0.0:0.0:0.8145:0.1855	.	113;75;113;113	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	W	75;113;113;113	ENSP00000393081:R75W;ENSP00000252594:R113W;ENSP00000388464:R113W;ENSP00000309126:R113W	ENSP00000252594:R113W	R	-	1	2	NSUN5	72359570	0.056000	0.20664	0.720000	0.30636	0.994000	0.84299	1.334000	0.33827	2.165000	0.68154	0.485000	0.47835	CGG		0.637	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956	
SAMD9	54809	broad.mit.edu	37	7	92734204	92734204	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:92734204C>A	ENST00000379958.2	-	3	1476	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	403						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAAATCTTGATTTCCT	0.323																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1207-1209)Gat>Tat		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							55.0	59.0	57.0					7																	92734204		2201	4298	6499	SO:0001583	missense	54809					cytoplasm		g.chr7:92734204C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1207G>T	7.37:g.92734204C>A	ENSP00000369292:p.Asp403Tyr					SAMD9_uc003umg.3_Missense_Mutation_p.D403Y|SAMD9_uc022ahg.1_Missense_Mutation_p.D403Y	p.D403Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	1477	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		403					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1207G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	8.284	0.816160	0.16607	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13657	2.57;2.57	4.24	4.24	0.50183	.	0.381500	0.21628	U	0.071521	T	0.30823	0.0777	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	P	0.61328	0.887	T	0.03403	-1.1040	10	0.66056	D	0.02	-11.4454	15.6845	0.77400	0.0:1.0:0.0:0.0	.	403	Q5K651	SAMD9_HUMAN	Y	403	ENSP00000369292:D403Y;ENSP00000414529:D403Y	ENSP00000369292:D403Y	D	-	1	0	SAMD9	92572140	0.000000	0.05858	0.050000	0.19076	0.364000	0.29643	0.598000	0.24074	2.350000	0.79820	0.603000	0.83216	GAT		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
PON1	5444	broad.mit.edu	37	7	94931534	94931534	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:94931534T>A	ENST00000222381.3	-	8	1123	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	PON1_ENST00000542556.1_Missense_Mutation_p.N298Y	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	298					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GCAGGAGGATTCTCTGAGTCA	0.398																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(892-894)Aat>Tat		Homo sapiens paraoxonase 1 (PON1), mRNA.	Atorvastatin(DB01076)|Cefazolin(DB01327)						77.0	78.0	77.0					7																	94931534		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931534T>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.892A>T	7.37:g.94931534T>A	ENSP00000222381:p.Asn298Tyr					PON1_uc011kih.2_Missense_Mutation_p.N298Y	p.N298Y	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	989	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		298					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.892A>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975669	0.34848	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.46451	0.87;0.87	4.67	2.25	0.28309	Six-bladed beta-propeller, TolB-like (1);	0.098059	0.64402	D	0.000001	T	0.32102	0.0818	L	0.56769	1.78	0.45704	D	0.998616	P;P	0.47677	0.899;0.61	B;B	0.38106	0.265;0.096	T	0.07404	-1.0774	10	0.49607	T	0.09	-11.7386	5.6634	0.17682	0.0:0.1485:0.1446:0.707	.	298;298	F5H4W9;P27169	.;PON1_HUMAN	Y	298	ENSP00000222381:N298Y;ENSP00000444854:N298Y	ENSP00000222381:N298Y	N	-	1	0	PON1	94769470	0.997000	0.39634	0.944000	0.38274	0.731000	0.41821	1.367000	0.34204	0.503000	0.28060	0.528000	0.53228	AAT		0.398	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
MUC17	140453	broad.mit.edu	37	7	100675948	100675948	+	Silent	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:100675948T>C	ENST00000306151.4	+	3	1315	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	417	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACAATTCCTGTTGACTCCA	0.458																																						uc003uxp.1																			0		p.I416N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1249-1251)ccT>ccC		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							190.0	198.0	195.0					7																	100675948		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675948T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1251T>C	7.37:g.100675948T>C						MUC17_uc010lho.1_Non-coding_Transcript	p.P417P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	1304	+	Lung NSC(181;0.136)|all_lung(186;0.182)		417			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1251T>C	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
PRSS3P1	168330	broad.mit.edu	37	7	142468305	142468305	+	IGR	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:142468305C>T								PRSS1 (7384 upstream) : PRSS3P2 (10534 downstream)																							GAGCTGCTGGCGAGTTTCATG	0.537																																						uc003vzp.2																			0													SubName: Full=V_segment translation product; Flags: Fragment;																																				SO:0001628	intergenic_variant	154754							g.chr7:142468305C>T																													7.37:g.142468305C>T						TRBV5-1_uc011krr.1_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|TCRB_uc011ksp.1_5'Flank										+									Splice_Site	SNP		37																																																																																					0	0.537								
ARHGEF35	445328	broad.mit.edu	37	7	143884194	143884194	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:143884194A>T	ENST00000378115.2	-	2	1412	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.L428H	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	428										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGAGTCACGAGATATGAGGC	0.572																																						uc003wdz.2																			0				kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						c.(1282-1284)cTc>cAc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.							11.0	12.0	11.0					7																	143884194		2100	4048	6148	SO:0001583	missense	445328							g.chr7:143884194A>T	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1283T>A	7.37:g.143884194A>T	ENSP00000367355:p.Leu428His					ARHGEF35_uc022aog.1_Missense_Mutation_p.L428H	p.L428H	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			1	1456	-			428					Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1283T>A	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.284191	0.23392	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	1.42	0.22433	.	.	.	.	.	T	0.10337	0.0253	N	0.08118	0	0.09310	N	1	P	0.50272	0.933	B	0.37550	0.253	T	0.13926	-1.0491	8	0.59425	D	0.04	.	4.7616	0.13111	0.1978:0.0:0.8022:0.0	.	428	A5YM69	ARG35_HUMAN	H	428	.	ENSP00000367355:L428H	L	-	2	0	ARHGEF35	143515127	0.002000	0.14202	0.002000	0.10522	0.336000	0.28762	0.485000	0.22324	0.313000	0.23062	0.155000	0.16302	CTC		0.572	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702	
GALNT11	63917	broad.mit.edu	37	7	151805176	151805176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:151805176C>G	ENST00000434507.1	+	8	1203	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000452146.2_Missense_Mutation_p.Q175E|GALNT11_ENST00000320311.2_Missense_Mutation_p.Q256E|GALNT11_ENST00000430044.2_Missense_Mutation_p.Q256E			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	256	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGTGGCTGCAGCCCTTGCT	0.582																																						uc010lqg.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(766-768)Cag>Gag		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.							65.0	56.0	59.0					7																	151805176		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151805176C>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.766C>G	7.37:g.151805176C>G	ENSP00000416787:p.Gln256Glu					GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_Non-coding_Transcript|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	p.Q256E	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	996	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	256			Catalytic subdomain A.		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.766C>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731765	0.15507	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.058581	0.64402	D	0.000001	T	0.22627	0.0546	N	0.01297	-0.9	0.80722	D	1	B;B;B	0.16396	0.003;0.017;0.008	B;B;B	0.21708	0.005;0.036;0.035	T	0.29579	-1.0007	10	0.02654	T	1	.	14.5117	0.67791	0.0:0.8535:0.1465:0.0	.	175;256;256	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	E	256;175;256;256;256	ENSP00000395122:Q256E;ENSP00000393399:Q175E;ENSP00000416787:Q256E;ENSP00000315835:Q256E	ENSP00000315835:Q256E	Q	+	1	0	GALNT11	151436109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.848000	0.62874	2.445000	0.82738	0.650000	0.86243	CAG		0.582	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
DOCK5	80005	broad.mit.edu	37	8	25167952	25167952	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:25167952G>A	ENST00000276440.7	+	13	1266	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	408					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCTTGCCCGGTGACCTCAC	0.408																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1222-1224)Ggt>Agt		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							88.0	89.0	88.0					8																	25167952		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25167952G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1222G>A	8.37:g.25167952G>A	ENSP00000276440:p.Gly408Ser					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.3_5'UTR	p.G408S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1359	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	408					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1222G>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.650225|5.650225	0.96714|0.96714	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.16743|.	2.32|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85936|0.85936	0.5813|0.5813	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.86786|0.86786	0.1982|0.1982	10|5	0.87932|.	D|.	0|.	.|.	20.2585|20.2585	0.98435|0.98435	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	183;408|.	Q68DL4;Q9H7D0|.	.;DOCK5_HUMAN|.	S|Q	408|179	ENSP00000276440:G408S|.	ENSP00000276440:G408S|.	G|R	+|+	1|2	0|0	DOCK5|DOCK5	25223869|25223869	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.776000|0.776000	0.43924|0.43924	9.840000|9.840000	0.99478|0.99478	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
RAB11FIP1	80223	broad.mit.edu	37	8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A	rs371085767		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:37730005G>A	ENST00000330843.4	-	4	2327	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	772					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(2314-2316)gCg>gTg		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	83.0	86.0	85.0		,2315	-5.8	0.0	8		85	0,8600		0,0,4300	no	intron,missense	RAB11FIP1	NM_025151.4,NM_001002814.2	,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,772/1284	37730005	1,13005	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730005G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2315C>T	8.37:g.37730005G>A	ENSP00000331342:p.Ala772Val					RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	p.A772V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	2371	-		Lung NSC(58;0.118)|all_lung(54;0.195)	772					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2315C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431757	0.25813	2.27E-4	0.0	ENSG00000156675	ENST00000330843	T	0.12984	2.63	4.93	-5.85	0.02311	.	0.488757	0.16793	N	0.199284	T	0.05640	0.0148	N	0.17082	0.46	0.09310	N	0.999998	B;B	0.18013	0.025;0.002	B;B	0.12837	0.008;0.001	T	0.26292	-1.0107	10	0.30078	T	0.28	-0.4117	6.6225	0.22810	0.616:0.0:0.2266:0.1574	.	101;772	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	772	ENSP00000331342:A772V	ENSP00000331342:A772V	A	-	2	0	RAB11FIP1	37849163	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.650000	0.00858	-0.903000	0.03881	-0.794000	0.03295	GCG		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
CPQ	10404	broad.mit.edu	37	8	97797551	97797551	+	Silent	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:97797551T>A	ENST00000220763.5	+	2	636	c.426T>A	c.(424-426)ccT>ccA	p.P142P		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	142					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TTGGGACTCCTCCAGAAGGTA	0.398																																						uc003yhw.3																			0											c.(424-426)ccT>ccA		Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.							57.0	62.0	60.0					8																	97797551		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97797551T>A	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.426T>A	8.37:g.97797551T>A						CPQ_uc010mbe.2_Silent_p.P142P	p.P142P	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN			1	592	+			142					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.426T>A	CCDS6273.1																																																																																				0.398	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	rs201715496		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:105001597C>T	ENST00000436393.2	+	15	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R998*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R837*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R790*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1060					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)																												uc003yls.3																			0		p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2326-2328)Cga>Tga		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							122.0	120.0	121.0					8																	105001597		1870	4094	5964	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001597C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2326C>T	8.37:g.105001597C>T	ENSP00000390665:p.Arg776*	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	p.R776*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2567	+			1060					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2326C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.178250	0.98691	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.2307	0.59941	0.2845:0.7155:0.0:0.0	.	.	.	.	X	998;1013;998;1060;837;790;790;776	.	ENSP00000262231:R837X	R	+	1	2	RIMS2	105070773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.921000	0.40035	2.617000	0.88574	0.484000	0.47621	CGA		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
ENPP2	5168	broad.mit.edu	37	8	120569920	120569920	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:120569920G>A	ENST00000075322.6	-	25	2491	c.2433C>T	c.(2431-2433)gaC>gaT	p.D811D	ENPP2_ENST00000522826.1_Silent_p.D836D|ENPP2_ENST00000259486.6_Silent_p.D863D|ENPP2_ENST00000522167.1_Silent_p.D446D|ENPP2_ENST00000427067.2_Silent_p.D832D	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	811					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTTGATTCGTCCTCTGAGC	0.453																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0		p.E862K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2587-2589)gaC>gaT		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							158.0	144.0	149.0					8																	120569920		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569920G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2433C>T	8.37:g.120569920G>A						ENPP2_uc011lic.2_Silent_p.D349D|ENPP2_uc003yor.2_Silent_p.D446D|ENPP2_uc010mdd.2_Silent_p.D836D|ENPP2_uc003yot.2_Silent_p.D811D	p.D863D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2675	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		811					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2589C>T	CCDS34936.1																																																																																				0.453	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
GLI4	2738	broad.mit.edu	37	8	144358513	144358513	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144358513T>G	ENST00000523522.1	+	3	709	c.670T>G	c.(670-672)Tcg>Gcg	p.S224A	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.S224A			P10075	GLI4_HUMAN	GLI family zinc finger 4	224					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCGCGGCTGGTCGGGCTTCAT	0.652																																						uc003yxx.3																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(670-672)Tcg>Gcg		Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.							21.0	23.0	22.0					8																	144358513		2199	4293	6492	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358513T>G		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.670T>G	8.37:g.144358513T>G	ENSP00000430987:p.Ser224Ala					ZFP41_uc003yxv.3_Non-coding_Transcript	p.S224A	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	755	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		224					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.670T>G	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	T	7.305	0.613807	0.14066	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.17691	2.26;2.26	3.97	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	N	0.25286	0.73	0.09310	N	1	P	0.45348	0.856	B	0.42462	0.388	T	0.15780	-1.0425	9	0.29301	T	0.29	.	7.8278	0.29326	0.1861:0.0:0.0:0.8139	.	224	P10075	GLI4_HUMAN	A	224	ENSP00000345024:S224A;ENSP00000430987:S224A	ENSP00000345024:S224A	S	+	1	0	GLI4	144429888	0.000000	0.05858	0.981000	0.43875	0.001000	0.01503	-0.416000	0.07097	0.557000	0.29117	-0.502000	0.04539	TCG		0.652	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2		
EPPK1	83481	broad.mit.edu	37	8	144940380	144940380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144940380C>T	ENST00000525985.1	-	2	7113	c.7042G>A	c.(7042-7044)Gtc>Atc	p.V2348I				P58107	EPIPL_HUMAN	epiplakin 1	2348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGCCGCCCGTG	0.697																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7042-7044)Gtc>Atc		Homo sapiens epiplakin 1 (EPPK1), mRNA.							192.0	186.0	188.0					8																	144940380		2173	4238	6411	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940380C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7042G>A	8.37:g.144940380C>T	ENSP00000436337:p.Val2348Ile						p.V2348I	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	7055	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2348					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7042G>A		.	.	.	.	.	.	.	.	.	.	C	7.468	0.646021	0.14451	.	.	ENSG00000227184	ENST00000525985	T	0.63580	-0.05	4.39	-1.99	0.07457	.	.	.	.	.	T	0.24736	0.0600	N	0.01128	-1	0.23016	N	0.998428	B	0.28605	0.217	B	0.26517	0.07	T	0.29822	-0.9999	9	0.06625	T	0.88	.	9.8885	0.41276	0.0:0.3131:0.0:0.6869	.	2348	E9PPU0	.	I	2348	ENSP00000436337:V2348I	ENSP00000436337:V2348I	V	-	1	0	EPPK1	145012368	0.480000	0.25933	0.988000	0.46212	0.996000	0.88848	-0.095000	0.11077	-0.288000	0.09051	0.586000	0.80456	GTC		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
TAF1L	138474	broad.mit.edu	37	9	32630560	32630560	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:32630560G>C	ENST00000242310.4	-	1	5107	c.5018C>G	c.(5017-5019)aCa>aGa	p.T1673R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1673					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGAGGGATGTGTTGGTATC	0.473																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5017-5019)aCa>aGa		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							218.0	203.0	208.0					9																	32630560		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630560G>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5018C>G	9.37:g.32630560G>C	ENSP00000418379:p.Thr1673Arg					AX747113_uc003zrh.1_5'Flank	p.T1673R	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	5108	-			1673					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5018C>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	7.644	0.681524	0.14907	.	.	ENSG00000122728	ENST00000242310	T	0.08370	3.1	0.479	0.479	0.16796	.	0.153130	0.64402	D	0.000015	T	0.06600	0.0169	L	0.50333	1.59	0.29948	N	0.820486	B	0.29232	0.238	B	0.27380	0.079	T	0.26121	-1.0112	10	0.18276	T	0.48	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1673	Q8IZX4	TAF1L_HUMAN	R	1673	ENSP00000418379:T1673R	ENSP00000418379:T1673R	T	-	2	0	TAF1L	32620560	1.000000	0.71417	0.857000	0.33713	0.070000	0.16714	1.722000	0.38042	0.507000	0.28148	0.195000	0.17529	ACA		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
SPATA31C1	441452	broad.mit.edu	37	9	90536517	90536517	+	RNA	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:90536517A>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGTGACTCAGGAAGTGATT	0.507																																						uc010mqi.3																			0											c.(1693-1695)tcA>tcG		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							9.0	12.0	11.0					9																	90536517		692	1590	2282			441452							g.chr9:90536517A>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536517A>G						FAM75C1_uc004apq.4_Silent_p.S548S	p.S565S	NM_001145124	NP_001138596					3	1724	+									Silent	SNP	ENST00000602681.1	37	c.1695A>G																																																																																					0.507	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
C9orf156	51531	broad.mit.edu	37	9	100672419	100672419	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:100672419C>A	ENST00000375119.3	-	4	965	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	297					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAAGACTGCTGCTCCT	0.562																																						uc004axv.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(889-891)Gtc>Ttc		Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.							127.0	108.0	114.0					9																	100672419		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672419C>A	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.889G>T	9.37:g.100672419C>A	ENSP00000364260:p.Val297Phe					C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	p.V297F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			3	966	-		Acute lymphoblastic leukemia(62;0.158)	297					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.889G>T	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	8.513	0.866928	0.17250	.	.	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.37752	1.62;1.18	5.03	-0.797	0.10909	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.881445	0.10129	N	0.712344	T	0.26738	0.0654	L	0.46157	1.445	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.001	T	0.26430	-1.0103	10	0.33141	T	0.24	0.1041	4.8039	0.13310	0.1401:0.4196:0.0:0.4403	.	151;297	Q5T114;Q9BU70	.;NAP1_HUMAN	F	297;151	ENSP00000364260:V297F;ENSP00000364259:V151F	ENSP00000364259:V151F	V	-	1	0	C9orf156	99712240	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.094000	0.11094	-0.352000	0.08237	0.563000	0.77884	GTC		0.562	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481	
ANKS6	203286	broad.mit.edu	37	9	101530447	101530447	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:101530447C>T	ENST00000353234.4	-	11	2105	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	ANKS6_ENST00000375019.2_Silent_p.R385R|ANKS6_ENST00000375018.1_Silent_p.R686R|ANKS6_ENST00000540940.1_Silent_p.R491R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	686	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGCTTGACCGATGGCTGG	0.577																																						uc004ayu.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(2056-2058)cgG>cgA		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.							41.0	48.0	46.0					9																	101530447		2054	4195	6249	SO:0001819	synonymous_variant	203286							g.chr9:101530447C>T	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2058G>A	9.37:g.101530447C>T						ANKS6_uc004ayv.2_Silent_p.R148R|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.R385R	p.R686R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			10	2079	-		Acute lymphoblastic leukemia(62;0.0527)	686			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.2058G>A	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158608	0.21454	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.88	4.06	0.47325	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55049	-0.8201	4	.	.	.	-10.3179	9.2561	0.37584	0.0:0.8348:0.0:0.1652	.	.	.	.	I	155	.	.	V	-	1	0	ANKS6	100570268	0.922000	0.31269	0.977000	0.42913	0.740000	0.42216	1.040000	0.30278	0.839000	0.34971	0.561000	0.74099	GTC		0.577	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
GRIN3A	116443	broad.mit.edu	37	9	104499635	104499635	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:104499635G>A	ENST00000361820.3	-	1	1227	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	209					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGACCAAGTCGAGCTCCATCA	0.597																																						uc004bbp.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(625-627)ctC>ctT		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						80.0	74.0	76.0					9																	104499635		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499635G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.627C>T	9.37:g.104499635G>A						GRIN3A_uc004bbq.1_Silent_p.L209L	p.L209L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			0	1228	-		Acute lymphoblastic leukemia(62;0.0568)	209					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.627C>T	CCDS6758.1																																																																																				0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
OR13C5	138799	broad.mit.edu	37	9	107361108	107361108	+	Missense_Mutation	SNP	T	T	A	rs377175875		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:107361108T>A	ENST00000374779.2	-	1	680	c.587A>T	c.(586-588)gAg>gTg	p.E196V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGATGAACTCATTGCCTGA	0.383																																						uc011lvp.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(586-588)gAg>gTg		Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.							191.0	175.0	180.0					9																	107361108		2203	4300	6503	SO:0001583	missense	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361108T>A		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.587A>T	9.37:g.107361108T>A	ENSP00000363911:p.Glu196Val						p.E196V	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			0	587	-			196					B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	c.587A>T	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	T	3.109	-0.183114	0.06340	.	.	ENSG00000255800	ENST00000374779	T	0.00258	8.41	4.17	0.00661	0.14068	GPCR, rhodopsin-like superfamily (1);	0.218004	0.22532	U	0.058828	T	0.00109	0.0003	L	0.37697	1.125	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.30416	-0.9979	10	0.31617	T	0.26	.	4.0282	0.09697	0.392:0.1036:0.0:0.5044	.	196	Q8NGS8	O13C5_HUMAN	V	196	ENSP00000363911:E196V	ENSP00000363911:E196V	E	-	2	0	OR13C5	106400929	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.191000	0.17076	0.168000	0.19655	0.433000	0.28618	GAG		0.383	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
KCNT1	57582	broad.mit.edu	37	9	138671275	138671275	+	Missense_Mutation	SNP	G	G	A	rs397515403		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:138671275G>A	ENST00000263604.3	+	24	2743	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	KCNT1_ENST00000298480.5_Missense_Mutation_p.A934T|KCNT1_ENST00000486577.2_Missense_Mutation_p.A893T|KCNT1_ENST00000487664.1_Missense_Mutation_p.A889T|KCNT1_ENST00000490355.2_Missense_Mutation_p.A913T|KCNT1_ENST00000491806.2_Missense_Mutation_p.A901T|KCNT1_ENST00000371757.2_Missense_Mutation_p.A934T|KCNT1_ENST00000488444.2_Missense_Mutation_p.A915T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	915			A -> T (in EIEE14; gain-of-function mutation). {ECO:0000269|PubMed:23086397}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTTCCGCGCCAAGGACAG	0.622																																						uc011mdq.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2800-2802)Gcc>Acc		Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.							140.0	133.0	135.0					9																	138671275		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138671275G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2743G>A	9.37:g.138671275G>A	ENSP00000263604:p.Ala915Thr					KCNT1_uc011mdr.2_Missense_Mutation_p.A761T|KCNT1_uc010nbf.3_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	p.A934T	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	23	2874	+		Myeloproliferative disorder(178;0.0821)	934					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2800G>A		.	.	.	.	.	.	.	.	.	.	G	19.95	3.922196	0.73213	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	3.77	3.77	0.43336	.	0.000000	0.85682	U	0.000000	T	0.80319	0.4601	L	0.43152	1.355	0.80722	D	1	D;P;P;D	0.69078	0.99;0.602;0.815;0.997	P;B;B;P	0.51016	0.536;0.091;0.241;0.656	T	0.81829	-0.0753	10	0.46703	T	0.11	-36.7238	15.5345	0.75993	0.0:0.0:1.0:0.0	.	901;934;889;915	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	T	889;934;934;893;901;915;913;915	ENSP00000417851:A889T;ENSP00000298480:A934T;ENSP00000360822:A934T;ENSP00000263604:A915T	ENSP00000263604:A915T	A	+	1	0	KCNT1	137811096	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	9.433000	0.97501	1.778000	0.52293	0.455000	0.32223	GCC		0.622	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
CXorf57	55086	broad.mit.edu	37	X	105881005	105881005	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chrX:105881005C>T	ENST00000372548.4	+	8	1533	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Missense_Mutation_p.P475L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	475							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGGCCAGCCGTATACGTAT	0.368																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1423-1425)cCg>cTg		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							68.0	61.0	63.0					X																	105881005		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105881005C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1424C>T	X.37:g.105881005C>T	ENSP00000361628:p.Pro475Leu					CXorf57_uc004emj.4_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L|Mir_548_uc022ccb.1_5'Flank	p.P475L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			7	1575	+			475					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1424C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240253	0.58995	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.66460	-0.21;0.1;0.02	4.42	1.66	0.24008	.	0.177532	0.50627	N	0.000111	T	0.50103	0.1596	L	0.38175	1.15	0.45962	D	0.998787	B;B;B	0.31989	0.078;0.078;0.35	B;B;B	0.28385	0.017;0.017;0.089	T	0.30822	-0.9965	10	0.33940	T	0.23	0.0166	8.6824	0.34216	0.0:0.7241:0.0:0.2759	.	475;475;475	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	L	475;475;283	ENSP00000361623:P475L;ENSP00000361628:P475L;ENSP00000405866:P283L	ENSP00000361623:P475L	P	+	2	0	CXorf57	105767661	0.988000	0.35896	0.049000	0.19019	0.868000	0.49771	2.731000	0.47343	0.075000	0.16796	0.513000	0.50165	CCG		0.368	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
