#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCNL2	81669	broad.mit.edu	37	1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(793-795)ttG>ttC		cyclin L2							96.0	97.0	97.0					1																	1325908		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325908C>G	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.795G>C	1.37:g.1325908C>G	ENSP00000383611:p.Leu265Phe		Somatic				CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	p.L265F	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	7	800	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	265			Cyclin-like 2.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.795G>C	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227238	0.39399	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.26223	1.75;1.75	5.72	4.82	0.62117	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.56097	D	0.000026	T	0.54806	0.1881	M	0.89904	3.07	0.50039	D	0.999849	D	0.89917	1.0	D	0.87578	0.998	T	0.59606	-0.7423	10	0.40728	T	0.16	.	10.2607	0.43425	0.0:0.7788:0.1455:0.0758	.	265	Q96S94	CCNL2_HUMAN	F	265;43	ENSP00000383611:L265F;ENSP00000386132:L43F	ENSP00000383611:L265F	L	-	3	2	CCNL2	1315771	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.854000	0.27791	1.446000	0.47643	0.650000	0.86243	TTG		0.408	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		23	78	23	78	---	---	---	---
ENO1	2023	broad.mit.edu	37	1	8926490	8926490	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:8926490G>T	ENST00000234590.4	-	7	634	c.515C>A	c.(514-516)cCa>cAa	p.P172Q		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	172	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGCACCGACTGGGAGGATCAT	0.522																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(514-516)cCa>cAa		enolase 1, (alpha)							132.0	125.0	127.0					1																	8926490		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926490G>T	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.515C>A	1.37:g.8926490G>T	ENSP00000234590:p.Pro172Gln		Somatic					p.P172Q	NM_001428.3	NP_001419.1	WXS	Illumina GAIIx	Phase_I	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	634	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	172			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.515C>A	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681771	0.88542	.	.	ENSG00000074800	ENST00000234590	T	0.59772	0.24	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.054186	0.85682	D	0.000000	D	0.86826	0.6026	H	0.99169	4.455	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.988;0.992;0.999;0.979;1.0	D	0.92522	0.6026	10	0.87932	D	0	-25.9433	18.013	0.89230	0.0:0.0:1.0:0.0	.	76;139;10;79;172	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	Q	172	ENSP00000234590:P172Q	ENSP00000234590:P172Q	P	-	2	0	ENO1	8849077	1.000000	0.71417	0.856000	0.33681	0.795000	0.44927	9.824000	0.99380	2.492000	0.84095	0.563000	0.77884	CCA		0.522	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		6	167	6	167	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11294298	11294298	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11294298C>A	ENST00000361445.4	-	14	2309	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	745					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTCCAATCCCACTGTGCTCC	0.502																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2233-2235)Ggg>Tgg		mechanistic target of rapamycin (serine/threonine kinase)							133.0	141.0	138.0					1																	11294298		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11294298C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2233G>T	1.37:g.11294298C>A	ENSP00000354558:p.Gly745Trp		Somatic					p.G745W	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			14	2309	-			745					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2233G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825300	0.90955	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65732	-0.17	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86638	0.1890	10	0.87932	D	0	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	745	P42345	MTOR_HUMAN	W	745	ENSP00000354558:G745W	ENSP00000354558:G745W	G	-	1	0	MTOR	11216885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.696000	0.92011	0.561000	0.74099	GGG		0.502	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		6	215	6	215	---	---	---	---
CLCN6	1185	broad.mit.edu	37	1	11889286	11889286	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11889286C>A	ENST00000346436.6	+	13	1207	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000312413.6_Missense_Mutation_p.H330N|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.T385T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	385					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGTAACCACCGTGGTGG	0.493																																						ENST00000312413.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(988-990)Cac>Aac		chloride channel, voltage-sensitive 6							237.0	220.0	226.0					1																	11889286		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11889286C>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1155C>A	1.37:g.11889286C>A			Somatic				CLCN6_ENST00000376496.3_Silent_p.T385T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000346436.6_Silent_p.T385T	p.H330N			WXS	Illumina GAIIx	Phase_I	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1101	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	0					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.988C>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200462	0.38905	.	.	ENSG00000011021	ENST00000312413;ENST00000376492	D	0.91894	-2.93	6.17	5.26	0.73747	.	.	.	.	.	D	0.88373	0.6419	.	.	.	0.23277	N	0.997994	B	0.02656	0.0	B	0.04013	0.001	T	0.81037	-0.1114	8	0.87932	D	0	-33.121	11.0753	0.48027	0.2431:0.6352:0.1217:0.0	.	330	P51797-3	.	N	330	ENSP00000308367:H330N	ENSP00000308367:H330N	H	+	1	0	CLCN6	11811873	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.994000	0.29693	1.601000	0.50113	0.655000	0.94253	CAC		0.493	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		7	192	7	192	---	---	---	---
NPPB	4879	broad.mit.edu	37	1	11918865	11918865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11918865C>A	ENST00000376468.3	-	1	123	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	9					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CAGGAGCGCCCGGGAAGGTGC	0.652																																						ENST00000376468.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(25-27)cGg>cTg		natriuretic peptide B	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						71.0	86.0	81.0					1																	11918865		2203	4300	6503	SO:0001583	missense	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918865C>A	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.26G>T	1.37:g.11918865C>A	ENSP00000365651:p.Arg9Leu		Somatic					p.R9L	NM_002521.2	NP_002512.1	WXS	Illumina GAIIx	Phase_I	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	123	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	9					B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	c.26G>T	CCDS140.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825338	0.50739	.	.	ENSG00000120937	ENST00000376468	T	0.25579	1.79	4.48	1.58	0.23477	.	0.971845	0.08505	N	0.935894	T	0.35885	0.0947	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	P	0.57244	0.816	T	0.16928	-1.0386	10	0.36615	T	0.2	.	5.7646	0.18219	0.0:0.6529:0.0:0.3471	.	9	P16860	ANFB_HUMAN	L	9	ENSP00000365651:R9L	ENSP00000365651:R9L	R	-	2	0	NPPB	11841452	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.811000	0.27198	0.159000	0.19401	-0.136000	0.14681	CGG		0.652	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		4	99	4	99	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12567061	12567061	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:12567061G>T	ENST00000358136.3	+	69	13079	c.12949G>T	c.(12949-12951)Ggg>Tgg	p.G4317W	SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAGACCATGGGAAGGTGTA	0.532																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(12949-12951)Ggg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							147.0	139.0	141.0					1																	12567061		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12567061G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12949G>T	1.37:g.12567061G>T	ENSP00000350854:p.Gly4317Trp		Somatic				VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W	p.G4317W	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	69	13079	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4316						Missense_Mutation	SNP	ENST00000358136.3	37	c.12949G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.085036|5.085036	0.94100|0.94100	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.78816|.	0.48;0.48;-1.21|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73908|0.73908	0.3647|0.3647	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.77004|.	0.962;0.989;0.988|.	T|T	0.69347|0.69347	-0.5169|-0.5169	10|5	0.66056|.	D|.	0.02|.	.|.	20.2279|20.2279	0.98344|0.98344	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;4292;4316|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	W|I	4292;4317;315;121|3138	ENSP00000348666:G4292W;ENSP00000350854:G4317W;ENSP00000441122:G315W|.	ENSP00000348666:G4292W|.	G|M	+|+	1|3	0|0	VPS13D|VPS13D	12489648|12489648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.391000|9.391000	0.97249|0.97249	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.532	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	141	6	141	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17586228	17586228	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:17586228C>A	ENST00000375460.3	+	2	288	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	83					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGAACTCCCCCAGCAATGAC	0.597																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(247-249)cCc>cAc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						71.0	55.0	60.0					1																	17586228		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17586228C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.248C>A	1.37:g.17586228C>A	ENSP00000364609:p.Pro83His		Somatic					p.P83H	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	288	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	83					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.248C>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980346	0.74474	.	.	ENSG00000142619	ENST00000375460	T	0.11385	2.78	5.2	5.2	0.72013	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.134229	0.51477	D	0.000094	T	0.27900	0.0687	M	0.68317	2.08	0.33352	D	0.571187	D	0.76494	0.999	D	0.71870	0.975	T	0.37526	-0.9702	10	0.87932	D	0	-28.0261	9.9168	0.41439	0.0:0.9072:0.0:0.0928	.	83	Q9ULW8	PADI3_HUMAN	H	83	ENSP00000364609:P83H	ENSP00000364609:P83H	P	+	2	0	PADI3	17458815	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.854000	0.55949	2.421000	0.82119	0.563000	0.77884	CCC		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			5	54	5	54	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19477100	19477100	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:19477100G>T	ENST00000375254.3	-	49	7428	c.7401C>A	c.(7399-7401)ccC>ccA	p.P2467P	UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375267.2_Silent_p.P2467P|UBR4_ENST00000375217.2_Silent_p.P2467P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2467					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCGTAGTGGGGGCAGCTG	0.532																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7399-7401)ccC>ccA		ubiquitin protein ligase E3 component n-recognin 4							101.0	99.0	99.0					1																	19477100		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477100G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7401C>A	1.37:g.19477100G>T			Somatic				UBR4_ENST00000375217.2_Silent_p.P2467P|UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375254.3_Silent_p.P2467P	p.P2467P			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7404	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2467					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.7401C>A	CCDS189.1																																																																																				0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	156	8	156	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21889689	21889689	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:21889689G>T	ENST00000374840.3	+	5	634	c.384G>T	c.(382-384)gtG>gtT	p.V128V	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	128			V -> M (in HOPS). {ECO:0000269|PubMed:11855933}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	AGGGCACCGTGGGGGTAAGCG	0.662																																						ENST00000374840.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(382-384)gtG>gtT		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						81.0	73.0	76.0					1																	21889689		2203	4300	6503	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889689G>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.384G>T	1.37:g.21889689G>T			Somatic				ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V|ALPL_ENST00000468526.1_3'UTR	p.V128V	NM_000478.4	NP_000469.3	WXS	Illumina GAIIx	Phase_I	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	634	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	128		V -> M (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.384G>T	CCDS217.1																																																																																				0.662	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		5	85	5	85	---	---	---	---
RPL11	6135	broad.mit.edu	37	1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(43-45)Ctt>Ttt		ribosomal protein L11							111.0	110.0	111.0					1																	24019135		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019135C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.43C>T	1.37:g.24019135C>T	ENSP00000363676:p.Leu15Phe		Somatic				RPL11_ENST00000482370.1_3'UTR	p.L15F	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	WXS	Illumina GAIIx	Phase_I	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	88	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	15					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.43C>T	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723241	0.68959	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.76839	-1.05;-1.05;-1.05	5.07	4.15	0.48705	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	M	0.87758	2.905	0.80722	D	1	P;P	0.48503	0.821;0.911	P;D	0.69654	0.895;0.965	D	0.89468	0.3741	10	0.52906	T	0.07	-1.013	13.8819	0.63686	0.0:0.9246:0.0:0.0754	.	14;15	P62913-2;P62913	.;RL11_HUMAN	F	15;13;13	ENSP00000363676:L15F;ENSP00000390839:L13F;ENSP00000398888:L13F	ENSP00000363676:L15F	L	+	1	0	RPL11	23891722	1.000000	0.71417	0.884000	0.34674	0.180000	0.23129	3.605000	0.54088	2.352000	0.79861	0.585000	0.79938	CTT		0.547	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		8	145	8	145	---	---	---	---
ZNF593	51042	broad.mit.edu	37	1	26496949	26496949	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26496949C>A	ENST00000374266.5	+	2	354	c.241C>A	c.(241-243)Cga>Aga	p.R81R	ZNF593_ENST00000270812.5_Silent_p.R81R|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000448923.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	81					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R81*(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507																																						ENST00000270812.5																			1	Substitution - Nonsense(1)	p.R81*(1)	large_intestine(1)	large_intestine(4)|prostate(1)	5						c.(241-243)Cga>Aga		zinc finger protein 593							229.0	228.0	228.0					1																	26496949		2203	4300	6503	SO:0001819	synonymous_variant	51042				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	g.chr1:26496949C>A	D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.241C>A	1.37:g.26496949C>A			Somatic				RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000374266.5_Silent_p.R81R|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA	p.R81R			WXS	Illumina GAIIx	Phase_I	O00488	ZN593_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	2	283	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	81					B2R4S0|Q5T2H7	Silent	SNP	ENST00000374266.5	37	c.241C>A	CCDS275.2																																																																																				0.507	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871		6	238	6	238	---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26524858C>A	ENST00000456354.2	+	6	827	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(760-762)Ctc>Atc		cation channel, sperm associated 4							166.0	163.0	164.0					1																	26524858		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524858C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.760C>A	1.37:g.26524858C>A	ENSP00000390423:p.Leu254Ile		Somatic					p.L254I	NM_198137.1	NP_937770.1	WXS	Illumina GAIIx	Phase_I	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	827	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	254					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.760C>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648945	0.67358	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97598	-4.45;-4.45	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.47852	D	0.000205	D	0.97904	0.9311	M	0.72479	2.2	0.39188	D	0.962919	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98681	1.0692	10	0.51188	T	0.08	-30.2332	13.1463	0.59463	0.0:1.0:0.0:0.0	.	254;238	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	I	254	ENSP00000341006:L254I;ENSP00000390423:L254I	ENSP00000341006:L254I	L	+	1	0	CATSPER4	26397445	0.996000	0.38824	0.999000	0.59377	0.702000	0.40608	4.476000	0.60216	2.231000	0.72958	0.467000	0.42956	CTC		0.527	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		7	199	7	199	---	---	---	---
FCN3	8547	broad.mit.edu	37	1	27699642	27699642	+	Missense_Mutation	SNP	C	C	A	rs369579099		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:27699642C>A	ENST00000270879.4	-	5	383	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGCCCCCCTCGGTGTCCA	0.647																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(376-378)gaG>gaT		ficolin (collagen/fibrinogen domain containing) 3							51.0	58.0	55.0					1																	27699642		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27699642C>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.378G>T	1.37:g.27699642C>A	ENSP00000270879:p.Glu126Asp		Somatic				FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	p.E126D	NM_003665.2	NP_003656.2	WXS	Illumina GAIIx	Phase_I	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	383	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	126			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.378G>T	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	0.328	-0.957965	0.02267	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.75821	-0.97;-0.97	4.63	-6.61	0.01818	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.683120	0.04405	N	0.365026	T	0.40595	0.1123	N	0.03294	-0.36	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48885	-0.8995	10	0.02654	T	1	.	4.8288	0.13430	0.304:0.3559:0.0:0.3401	.	115;126	Q6UXM4;O75636	.;FCN3_HUMAN	D	126;115;4	ENSP00000270879:E126D;ENSP00000347077:E115D	ENSP00000270879:E126D	E	-	3	2	FCN3	27572229	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.679000	0.05203	-0.729000	0.04875	-1.105000	0.02106	GAG		0.647	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			6	94	6	94	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39747939	39747939	+	Silent	SNP	C	C	T	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000372915.3	+	6	690	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000564288.1_Silent_p.L196L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(586-588)ctC>ctT		microtubule-actin crosslinking factor 1		C		1,4405	2.1+/-5.4	0,1,2202	122.0	115.0	118.0		603	-1.5	0.9	1	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	MACF1	NM_012090.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/5431	39747939	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39747939C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.603C>T	1.37:g.39747939C>T			Somatic				MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000372915.3_Silent_p.L201L	p.L196L			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		7	1365	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	201			Actin-binding.|CH 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.588C>T																																																																																					0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	92	7	92	---	---	---	---
CDC20	991	broad.mit.edu	37	1	43825890	43825890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:43825890G>T	ENST00000372462.1	+	5	786	c.583G>T	c.(583-585)Ggg>Tgg	p.G195W	CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	195					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGAGTTCTGGGAATGTACT	0.532																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(583-585)Ggg>Tgg		cell division cycle 20							151.0	143.0	145.0					1																	43825890		2203	4300	6503	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825890G>T	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.583G>T	1.37:g.43825890G>T	ENSP00000361540:p.Gly195Trp		Somatic				CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|CDC20_ENST00000478882.1_3'UTR	p.G195W			WXS	Illumina GAIIx	Phase_I	Q12834	CDC20_HUMAN			5	786	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	195					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.583G>T	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595520	0.66219	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.42131	0.98;0.98	5.85	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.303235	0.38548	N	0.001645	T	0.37732	0.1014	L	0.33339	1.005	0.36146	D	0.847111	P	0.47409	0.895	P	0.48227	0.571	T	0.50499	-0.8821	10	0.72032	D	0.01	-4.4905	9.1244	0.36805	0.0838:0.3046:0.6116:0.0	.	195	Q12834	CDC20_HUMAN	W	171;195;195	ENSP00000308450:G195W;ENSP00000361540:G195W	ENSP00000308450:G195W	G	+	1	0	CDC20	43598477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	1.478000	0.48253	0.655000	0.94253	GGG		0.532	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		6	149	6	149	---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44595197	44595197	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:44595197G>T	ENST00000372299.3	+	2	312	c.254G>T	c.(253-255)gGg>gTg	p.G85V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	85					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGAATGAAGGGGGGCCACAG	0.557																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(253-255)gGg>gTg		Kruppel-like factor 17							75.0	74.0	74.0					1																	44595197		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595197G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.254G>T	1.37:g.44595197G>T	ENSP00000361373:p.Gly85Val		Somatic				KLF17_ENST00000476802.1_3'UTR	p.G85V	NM_173484.3	NP_775755.3	WXS	Illumina GAIIx	Phase_I	Q5JT82	KLF17_HUMAN			2	312	+	Acute lymphoblastic leukemia(166;0.155)		85					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.254G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	5.903	0.350678	0.11182	.	.	ENSG00000171872	ENST00000372299	T	0.07114	3.22	4.17	0.262	0.15597	.	1.489390	0.04165	N	0.323733	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	10	0.12430	T	0.62	.	5.8558	0.18718	0.1531:0.0:0.4597:0.3871	.	85	Q5JT82	KLF17_HUMAN	V	85	ENSP00000361373:G85V	ENSP00000361373:G85V	G	+	2	0	KLF17	44367784	0.132000	0.22450	0.000000	0.03702	0.001000	0.01503	-0.122000	0.10627	0.021000	0.15133	-1.099000	0.02127	GGG		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		6	102	6	102	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45271171	45271171	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45271171G>T	ENST00000372201.4	+	15	2001	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	PLK3_ENST00000465443.1_3'UTR|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	588	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAACTTCTACGGGGACCACAC	0.597																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1762-1764)Ggg>Tgg		polo-like kinase 3							230.0	223.0	226.0					1																	45271171		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271171G>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1762G>T	1.37:g.45271171G>T	ENSP00000361275:p.Gly588Trp		Somatic				PLK3_ENST00000465443.1_3'UTR	p.G588W	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	Q9H4B4	PLK3_HUMAN			15	2001	+	Acute lymphoblastic leukemia(166;0.155)		588			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1762G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668241	0.47677	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.11495	2.77	5.83	4.91	0.64330	POLO box duplicated domain (2);	.	.	.	.	T	0.16428	0.0395	L	0.27053	0.805	0.31729	N	0.637334	D	0.71674	0.998	D	0.73708	0.981	T	0.12708	-1.0537	9	0.66056	D	0.02	-17.2465	4.0079	0.09610	0.2036:0.0:0.6093:0.1871	.	588	Q9H4B4	PLK3_HUMAN	W	588;563	ENSP00000361275:G588W	ENSP00000361275:G588W	G	+	1	0	PLK3	45043758	0.990000	0.36364	0.988000	0.46212	0.976000	0.68499	3.867000	0.56047	2.750000	0.94351	0.655000	0.94253	GGG		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		6	268	6	268	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51869093	51869093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:51869093C>A	ENST00000371733.3	-	17	1885	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	597					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTTTTACCTCTTTTGAATGT	0.363			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1789-1791)Gag>Tag		epidermal growth factor receptor pathway substrate 15							95.0	95.0	95.0					1																	51869093		2203	4300	6503	SO:0001587	stop_gained	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51869093C>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1789G>T	1.37:g.51869093C>A	ENSP00000360798:p.Glu597*		Somatic				EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	p.E597*	NM_001981.2	NP_001972.1	WXS	Illumina GAIIx	Phase_I	P42566	EPS15_HUMAN			17	1885	-			597					B2R8J7|D3DPJ2|Q5SRH4	Nonsense_Mutation	SNP	ENST00000371733.3	37	c.1789G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085891	0.94100	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	.	.	.	4.6	3.69	0.42338	.	0.000000	0.32736	N	0.005713	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	10.5457	0.45058	0.0:0.9081:0.0:0.0919	.	.	.	.	X	463;597;274	.	ENSP00000360795:E463X	E	-	1	0	EPS15	51641681	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.200000	0.32247	1.552000	0.49463	0.591000	0.81541	GAG		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	68	5	68	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53540284	53540284	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:53540284C>A	ENST00000312553.5	+	4	564	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.P167Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	138					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAGGGCTCCCAGAGAAGGCG	0.612																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(499-501)cCa>cAa		podocan							163.0	161.0	162.0					1																	53540284		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53540284C>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.557C>A	1.37:g.53540284C>A	ENSP00000308315:p.Pro186Gln		Somatic				PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.P186Q|RP11-334A14.5_ENST00000447867.1_RNA	p.P167Q	NM_001199080.1	NP_001186009.1	WXS	Illumina GAIIx	Phase_I	Q7Z5L7	PODN_HUMAN			6	841	+			138					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.500C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094648	0.76870	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.59502	0.26;1.8	5.65	5.65	0.86999	.	0.321084	0.33127	N	0.005255	T	0.69940	0.3167	L	0.49350	1.555	0.80722	D	1	P;D	0.62365	0.804;0.991	B;P	0.59825	0.342;0.864	T	0.70443	-0.4870	10	0.59425	D	0.04	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	167;186	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	167;186	ENSP00000360555:P167Q;ENSP00000308315:P186Q	ENSP00000308315:P186Q	P	+	2	0	PODN	53312872	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	5.156000	0.64905	2.655000	0.90218	0.655000	0.94253	CCA		0.612	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		7	229	7	229	---	---	---	---
DIO1	1733	broad.mit.edu	37	1	54360027	54360027	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:54360027G>T	ENST00000525202.1	+	1	144	c.144G>T	c.(142-144)acG>acT	p.T48T	DIO1_ENST00000524406.1_Intron|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000322679.6_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527																																						ENST00000525202.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(142-144)acG>acT		deiodinase, iodothyronine, type I							188.0	152.0	164.0					1																	54360027		2203	4300	6503	SO:0001630	splice_region_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360027G>T		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000525202.1:c.145+1G>T	1.37:g.54360027G>T			Somatic				DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T	p.T48T			WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	144	+			48					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Splice_Site	SNP	ENST00000525202.1	37	c.144G>T	CCDS53320.1																																																																																				0.527	DIO1-013	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000388176.1		Silent	5	150	5	150	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94502297	94502297	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:94502297C>A	ENST00000370225.3	-	26	3947	c.3861G>T	c.(3859-3861)gcG>gcT	p.A1287A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1287					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A1287A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCACCATACCCGCAAACAGAG	0.468																																						ENST00000370225.3																			1	Substitution - coding silent(1)	p.A1287A(1)	lung(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3859-3861)gcG>gcT		ATP-binding cassette, sub-family A (ABC1), member 4							125.0	138.0	134.0					1																	94502297		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502297C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3862+1G>T	1.37:g.94502297C>A			Somatic					p.A1287A	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	26	3947	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1287					O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37	c.3861G>T	CCDS747.1																																																																																				0.468	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Silent	5	185	5	185	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110931935	110931935	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110931935C>A	ENST00000369779.4	-	2	260	c.11G>T	c.(10-12)aGg>aTg	p.R4M	SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	4					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CTTCCCCTCCCTCTTCAGCAT	0.403																																						ENST00000541986.1																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16								solute carrier family 16, member 4	Pyruvic acid(DB00119)						167.0	159.0	162.0					1																	110931935		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110931935C>A	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.11G>T	1.37:g.110931935C>A	ENSP00000358794:p.Arg4Met		Somatic				SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M|SLC16A4_ENST00000369779.4_Missense_Mutation_p.R4M				WXS	Illumina GAIIx	Phase_I	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	0	226	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Translation_Start_Site	SNP	ENST00000369779.4	37		CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711683	0.30322	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.18174	2.39;2.23;2.65	4.86	-2.04	0.07343	.	0.755486	0.12942	N	0.426486	T	0.04679	0.0127	L	0.51422	1.61	0.36947	D	0.892661	B;B;B	0.28082	0.2;0.05;0.126	B;B;B	0.26770	0.073;0.013;0.033	T	0.31833	-0.9929	10	0.59425	D	0.04	.	1.3081	0.02092	0.1437:0.3298:0.1417:0.3848	.	4;4;4	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	M	4	ENSP00000358794:R4M;ENSP00000432495:R4M;ENSP00000358796:R4M	ENSP00000358794:R4M	R	-	2	0	SLC16A4	110733458	0.001000	0.12720	0.042000	0.18584	0.120000	0.20174	0.154000	0.16343	-0.163000	0.10946	-0.521000	0.04368	AGG		0.403	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		6	104	6	104	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111217125	111217125	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:111217125C>A	ENST00000369769.2	-	1	530	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	103					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	ACGCGCTCCCCGCAGCAGTCC	0.731																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(307-309)Ggg>Tgg		potassium voltage-gated channel, shaker-related subfamily, member 3							18.0	22.0	21.0					1																	111217125		2194	4294	6488	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217125C>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.307G>T	1.37:g.111217125C>A	ENSP00000358784:p.Gly103Trp		Somatic					p.G103W	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	530	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	103					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.307G>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672899	0.29693	.	.	ENSG00000177272	ENST00000369769	D	0.96940	-4.18	4.22	3.3	0.37823	.	0.000000	0.37623	U	0.002015	D	0.88731	0.6516	N	0.08118	0	0.37402	D	0.912877	P	0.50369	0.934	P	0.52881	0.712	D	0.88407	0.3019	10	0.48119	T	0.1	.	6.2984	0.21099	0.1815:0.7193:0.0:0.0992	.	103	P22001	KCNA3_HUMAN	W	103	ENSP00000358784:G103W	ENSP00000358784:G103W	G	-	1	0	KCNA3	111018648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.386000	0.66238	0.754000	0.32968	0.462000	0.41574	GGG		0.731	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		4	46	4	46	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783602G>T	ENST00000369167.1	-	1	312	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(277-279)Cgc>Agc		histone cluster 2, H2bf							27.0	26.0	26.0					1																	149783602		2203	4277	6480	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783602G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.277C>A	1.37:g.149783602G>T	ENSP00000358164:p.Arg93Ser		Somatic				HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR	p.R93S			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	323	-	Breast(34;0.0124)|all_hematologic(923;0.127)		93					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.277C>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927385	0.52759	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.52057	0.68;0.68;0.68	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.56097	D	0.000040	T	0.76877	0.4049	H	0.98629	4.285	0.39265	D	0.964282	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.995;0.988;0.946	D	0.86259	0.1654	10	0.87932	D	0	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	93;93;93	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	S	93	ENSP00000445831:R93S;ENSP00000407461:R93S;ENSP00000358164:R93S	ENSP00000358164:R93S	R	-	1	0	HIST2H2BF	148050226	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	3.331000	0.52075	2.287000	0.76781	0.195000	0.17529	CGC		0.647	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		4	74	4	74	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783762	149783762	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783762G>T	ENST00000369167.1	-	1	152	c.117C>A	c.(115-117)tcC>tcA	p.S39S	HIST2H2BF_ENST00000427880.2_Silent_p.S39S|HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	39					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					ACACGTAAACGGAGTAGCTCT	0.562																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)tcC>tcA		histone cluster 2, H2bf							210.0	189.0	196.0					1																	149783762		2203	4297	6500	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783762G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.117C>A	1.37:g.149783762G>T			Somatic				HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000369167.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR	p.S39S			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	163	-	Breast(34;0.0124)|all_hematologic(923;0.127)		39					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.117C>A	CCDS30846.1																																																																																				0.562	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		7	303	7	303	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151020889	151020889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151020889C>A	ENST00000368926.5	+	1	674	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	189						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTCACCCTCACCCACAGCC	0.697											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(565-567)tCa>tAa		chromosome 1 open reading frame 56							30.0	33.0	32.0					1																	151020889		2195	4293	6488	SO:0001587	stop_gained	54964					extracellular region		g.chr1:151020889C>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.566C>A	1.37:g.151020889C>A	ENSP00000357922:p.Ser189*		Somatic	OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.S189*	NM_017860.3	NP_060330.2	WXS	Illumina GAIIx	Phase_I	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	674	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		189					B2RDU8|Q9NWZ4	Nonsense_Mutation	SNP	ENST00000368926.5	37	c.566C>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928708	0.73327	.	.	ENSG00000143443	ENST00000368926	.	.	.	4.43	4.43	0.53597	.	0.531775	0.15944	N	0.237047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9488	12.8604	0.57910	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000357922:S189X	S	+	2	0	C1orf56	149287513	0.753000	0.28349	0.077000	0.20336	0.003000	0.03518	3.278000	0.51662	2.736000	0.93811	0.650000	0.86243	TCA		0.697	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		5	85	5	85	---	---	---	---
TDRKH	11022	broad.mit.edu	37	1	151752577	151752577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151752577C>A	ENST00000368822.1	-	4	904	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	91	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTACATCCTCTGTGTCCACA	0.507																																						ENST00000368822.1																			0				breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(271-273)Gag>Tag		tudor and KH domain containing							167.0	167.0	167.0					1																	151752577		2078	4233	6311	SO:0001587	stop_gained	11022						RNA binding	g.chr1:151752577C>A	AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.271G>T	1.37:g.151752577C>A	ENSP00000357812:p.Glu91*		Somatic				TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*	p.E91*			WXS	Illumina GAIIx	Phase_I	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	904	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		91			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Nonsense_Mutation	SNP	ENST00000368822.1	37	c.271G>T	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792734	0.90453	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	.	.	.	5.08	5.08	0.68730	.	0.219820	0.39407	N	0.001365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-17.8573	16.3581	0.83244	0.0:1.0:0.0:0.0	.	.	.	.	X	91;91;91;87;91;91;91	.	ENSP00000357812:E91X	E	-	1	0	TDRKH	150019201	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.705000	0.54823	2.813000	0.96785	0.655000	0.94253	GAG		0.507	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036648.2	NM_006862		7	130	7	130	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:152287816C>A	ENST00000368799.1	-	2	152	c.117G>T	c.(115-117)aaG>aaT	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.K39N(1)	ovary(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(115-117)aaG>aaT		filaggrin							174.0	178.0	177.0					1																	152287816		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287816C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.117G>T	1.37:g.152287816C>A	ENSP00000357789:p.Lys39Asn		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.K39N	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	152	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		39			EF-hand 1.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.117G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810512	0.32053	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.2	-10.4	0.00318	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	P	0.47191	0.891	P	0.48677	0.586	T	0.10636	-1.0621	9	0.31617	T	0.26	0.2843	5.8155	0.18490	0.0953:0.1969:0.0949:0.6129	.	39	P20930	FILA_HUMAN	N	39	ENSP00000357789:K39N	ENSP00000357789:K39N	K	-	3	2	FLG	150554440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.545000	0.00933	-1.947000	0.01034	-1.120000	0.02017	AAG		0.328	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	184	7	184	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153748239	153748239	+	Missense_Mutation	SNP	G	G	T	rs200975179		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:153748239G>T	ENST00000368661.3	+	1	472	c.407G>T	c.(406-408)cGg>cTg	p.R136L	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000271857.2_Missense_Mutation_p.R217L	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	136					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACGGCTCGCGGCGCTTTAGC	0.711																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(649-651)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 3							10.0	13.0	12.0					1																	153748239		1779	3627	5406	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748239G>T	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.407G>T	1.37:g.153748239G>T	ENSP00000357650:p.Arg136Leu		Somatic				SLC27A3_ENST00000368661.3_Missense_Mutation_p.R136L|SLC27A3_ENST00000484014.1_Intron	p.R217L			WXS	Illumina GAIIx	Phase_I	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1410	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		136					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.650G>T	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409140	0.62399	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.11604	2.76;2.76	3.57	0.524	0.17066	.	0.547217	0.18112	N	0.151329	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	0.999998	B	0.32160	0.358	B	0.23852	0.049	T	0.43458	-0.9390	10	0.52906	T	0.07	-8.6044	5.9351	0.19161	0.3627:0.0:0.6373:0.0	.	136	Q5K4L6	S27A3_HUMAN	L	217;136	ENSP00000271857:R217L;ENSP00000357650:R136L	ENSP00000271857:R217L	R	+	2	0	SLC27A3	152014863	0.031000	0.19500	0.967000	0.41034	0.442000	0.32017	0.512000	0.22755	-0.074000	0.12820	0.462000	0.41574	CGG		0.711	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		3	10	3	10	---	---	---	---
SH2D2A	9047	broad.mit.edu	37	1	156779038	156779038	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156779038G>T	ENST00000368199.3	-	7	1112	c.959C>A	c.(958-960)cCt>cAt	p.P320H	SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000392306.2_Missense_Mutation_p.P330H	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	320	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.P320H(1)|p.P330H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTAGGACAGGGTGCCCAAG	0.602																																						ENST00000392306.2																			2	Substitution - Missense(2)	p.P320H(1)|p.P330H(1)	lung(2)	endometrium(1)|large_intestine(2)|lung(15)	18						c.(988-990)cCt>cAt		SH2 domain containing 2A							143.0	141.0	142.0					1																	156779038		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779038G>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.959C>A	1.37:g.156779038G>T	ENSP00000357182:p.Pro320His		Somatic				SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.P320H	p.P330H	NM_001161441.1	NP_001154913.1	WXS	Illumina GAIIx	Phase_I	Q9NP31	SH22A_HUMAN			7	1128	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		320			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.989C>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	G	5.274	0.235895	0.10023	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.54866	0.56;0.55;0.98	3.18	-3.11	0.05299	.	3.077030	0.01473	N	0.016342	T	0.12646	0.0307	N	0.17082	0.46	0.09310	N	1	B;B;B	0.20052	0.041;0.006;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.08617	-1.0713	10	0.41790	T	0.15	-0.3668	1.8161	0.03101	0.109:0.2635:0.207:0.4205	.	330;302;320	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	H	320;302;330	ENSP00000357182:P320H;ENSP00000357181:P302H;ENSP00000376123:P330H	ENSP00000357181:P302H	P	-	2	0	SH2D2A	155045662	0.000000	0.05858	0.004000	0.12327	0.238000	0.25445	-1.495000	0.02294	-0.463000	0.06973	0.462000	0.41574	CCT		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		9	260	9	260	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156916777	156916777	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156916777C>A	ENST00000361409.2	-	26	3141	c.2399G>T	c.(2398-2400)cGg>cTg	p.R800L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R840L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	800	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R840L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCCTCCCGGAGCTTCTT	0.542																																						ENST00000368194.3																			1	Substitution - Missense(1)	p.R840L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2518-2520)cGg>cTg		Rho guanine nucleotide exchange factor (GEF) 11							118.0	121.0	120.0					1																	156916777		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156916777C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2399G>T	1.37:g.156916777C>A	ENSP00000354644:p.Arg800Leu		Somatic				ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R800L	p.R840L	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	O15085	ARHGB_HUMAN			27	3558	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		800			DH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2519G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363708	0.95877	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65732	-0.17;-0.17;-0.17	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000065	T	0.75693	0.3884	M	0.70108	2.13	0.58432	D	0.999999	D;D;D	0.71674	0.964;0.998;0.997	P;D;D	0.74674	0.727;0.975;0.984	T	0.77112	-0.2708	10	0.87932	D	0	-23.5004	19.0202	0.92910	0.0:1.0:0.0:0.0	.	216;800;840	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	L	840;800;216	ENSP00000357177:R840L;ENSP00000354644:R800L;ENSP00000313470:R216L	ENSP00000313470:R216L	R	-	2	0	ARHGEF11	155183401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.986000	0.76200	2.819000	0.97034	0.650000	0.86243	CGG		0.542	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		5	177	5	177	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158648265	158648265	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:158648265C>A	ENST00000368147.4	-	6	918	c.738G>T	c.(736-738)tgG>tgT	p.W246C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	246					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGGCGCTCCCAGGCAGCAT	0.453																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(736-738)tgG>tgT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							90.0	85.0	87.0					1																	158648265		1874	4108	5982	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648265C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.738G>T	1.37:g.158648265C>A	ENSP00000357129:p.Trp246Cys		Somatic					p.W246C	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			6	918	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.738G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724054	0.68959	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	4.66	4.66	0.58398	.	0.000000	0.30410	N	0.009696	D	0.84469	0.5479	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88332	0.2969	10	0.87932	D	0	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	246	P02549	SPTA1_HUMAN	C	246	ENSP00000357130:W246C;ENSP00000357129:W246C	ENSP00000357129:W246C	W	-	3	0	SPTA1	156914889	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	TGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	83	5	83	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	ENST00000367618.3	+	17	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1828-1830)aGt>aAt		axonemal dynein light chain domain containing 1							56.0	58.0	57.0					1																	179437608		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179437608G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1829G>A	1.37:g.179437608G>A	ENSP00000356590:p.Ser610Asn		Somatic				AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	p.S610N	NM_144696.4	NP_653297.3	WXS	Illumina GAIIx	Phase_I	Q5T1B0	AXDN1_HUMAN			17	2216	+			610					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1829G>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	0.238	-1.015554	0.02078	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.16324	2.37;2.35	4.24	0.0979	0.14496	.	0.677331	0.16024	N	0.233161	T	0.07593	0.0191	L	0.34521	1.04	0.09310	N	1	P;B	0.37466	0.596;0.001	B;B	0.32289	0.143;0.003	T	0.27262	-1.0079	10	0.09338	T	0.73	-13.2975	2.8391	0.05524	0.0997:0.3263:0.3931:0.181	.	568;610	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	610;568;544	ENSP00000356590:S610N;ENSP00000391716:S544N	ENSP00000353471:S568N	S	+	2	0	AXDND1	177704231	0.007000	0.16637	0.000000	0.03702	0.360000	0.29518	0.515000	0.22801	0.024000	0.15214	-0.136000	0.14681	AGT		0.294	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	50	4	50	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180772720	180772720	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:180772720C>A	ENST00000367590.4	+	4	618	c.420C>A	c.(418-420)ctC>ctA	p.L140L	XPR1_ENST00000367589.3_Silent_p.L140L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	140	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTTCTACCTCAGTCTAATCC	0.403																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(418-420)ctC>ctA		xenotropic and polytropic retrovirus receptor 1							108.0	113.0	111.0					1																	180772720		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180772720C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.420C>A	1.37:g.180772720C>A			Somatic				XPR1_ENST00000367589.3_Silent_p.L140L	p.L140L	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			4	618	+			140			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.420C>A	CCDS1340.1																																																																																				0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	122	5	122	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183536470	183536470	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183536470C>A	ENST00000367535.3	-	8	975	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000413720.1_Missense_Mutation_p.G197W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	242	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TGAGCCTCCCCTTCCAGAGCC	0.532																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(589-591)Ggg>Tgg		neutrophil cytosolic factor 2							234.0	222.0	226.0					1																	183536470		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183536470C>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.724G>T	1.37:g.183536470C>A	ENSP00000356505:p.Gly242Trp		Somatic				NCF2_ENST00000367535.3_Missense_Mutation_p.G242W|NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	p.G197W	NM_001190794.1	NP_001177723.1	WXS	Illumina GAIIx	Phase_I	P19878	NCF2_HUMAN			7	863	-			242					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.589G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769987	0.90020	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.37	5.37	0.77165	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71813	-0.4479	10	0.87932	D	0	-26.8557	19.116	0.93340	0.0:1.0:0.0:0.0	.	161;197;242	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	242;314;197;161;242	ENSP00000356506:G242W;ENSP00000399294:G197W;ENSP00000407217:G161W;ENSP00000356505:G242W	ENSP00000356505:G242W	G	-	1	0	NCF2	181803093	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.064000	0.76721	2.535000	0.85469	0.561000	0.74099	GGG		0.532	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		7	262	7	262	---	---	---	---
SHISA4	149345	broad.mit.edu	37	1	201860964	201860964	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:201860964C>A	ENST00000362011.6	+	5	871	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	195	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CCCTCTTACCCGGGAGCCTGA	0.577																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(583-585)cCg>cAg		shisa family member 4							174.0	148.0	157.0					1																	201860964		2203	4300	6503	SO:0001583	missense	149345					integral to membrane		g.chr1:201860964C>A	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.584C>A	1.37:g.201860964C>A	ENSP00000355064:p.Pro195Gln		Somatic				SHISA4_ENST00000464117.1_3'UTR	p.P195Q	NM_198149.2	NP_937792.2	WXS	Illumina GAIIx	Phase_I	Q96DD7	SHSA4_HUMAN			5	871	+			195			Pro-rich.		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	ENST00000362011.6	37	c.584C>A	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436974	0.62955	.	.	ENSG00000198892	ENST00000362011	T	0.66995	-0.24	5.84	5.84	0.93424	.	0.287959	0.39985	N	0.001207	T	0.72211	0.3432	N	0.24115	0.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.75199	-0.3402	10	0.87932	D	0	.	15.6279	0.76878	0.0:1.0:0.0:0.0	.	195	Q96DD7	SHSA4_HUMAN	Q	195	ENSP00000355064:P195Q	ENSP00000355064:P195Q	P	+	2	0	SHISA4	200127587	0.387000	0.25188	0.956000	0.39512	0.884000	0.51177	1.097000	0.30988	2.768000	0.95171	0.561000	0.74099	CCG		0.577	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		5	158	5	158	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204433187	204433187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:204433187C>A	ENST00000367187.3	-	6	1819	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	PIK3C2B_ENST00000424712.2_Silent_p.V421V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	421	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAAGTCACCCACGTCCACAT	0.542																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1261-1263)gtG>gtT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							165.0	160.0	161.0					1																	204433187		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204433187C>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1263G>T	1.37:g.204433187C>A			Somatic				PIK3C2B_ENST00000424712.2_Silent_p.V421V	p.V421V	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		6	1819	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		421					O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.1263G>T	CCDS1446.1																																																																																				0.542	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		6	149	6	149	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207741321	207741321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:207741321C>A	ENST00000367049.4	+	25	4105	c.4105C>A	c.(4105-4107)Cgc>Agc	p.R1369S	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367051.1_Missense_Mutation_p.R919S|CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCACCATCCGCTGCACAAG	0.542																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4105-4107)Cgc>Agc		complement component (3b/4b) receptor 1 (Knops blood group)							88.0	106.0	101.0					1																	207741321		1810	4082	5892	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741321C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4105C>A	1.37:g.207741321C>A	ENSP00000356016:p.Arg1369Ser		Somatic				CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R919S	p.R1369S	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			25	4105	+			919			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4105C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.409105	0.62399	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	2.73	-0.354	0.12591	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63438	0.2511	L	0.46819	1.47	0.19300	N	0.999972	P;D;P;D	0.69078	0.937;0.995;0.896;0.997	P;D;P;D	0.80764	0.862;0.987;0.641;0.994	T	0.52873	-0.8517	9	0.18276	T	0.48	.	2.6371	0.04961	0.225:0.5036:0.0:0.2714	.	919;469;919;1369	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	S	919;919;919;1369	ENSP00000356018:R919S;ENSP00000356020:R919S;ENSP00000383744:R919S;ENSP00000356016:R1369S	ENSP00000356016:R1369S	R	+	1	0	CR1	205807944	0.139000	0.22563	0.187000	0.23214	0.906000	0.53458	0.169000	0.16641	-0.053000	0.13289	0.491000	0.48974	CGC		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	200	6	200	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236180449	236180449	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:236180449C>A	ENST00000264187.6	-	10	2335	c.2253G>T	c.(2251-2253)gtG>gtT	p.V751V	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	751	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGAACTTACCCACACACGTTC	0.478																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2251-2253)gtG>gtT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						188.0	179.0	182.0					1																	236180449		2203	4300	6503	SO:0001630	splice_region_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180449C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2254+1G>T	1.37:g.236180449C>A			Somatic				NID1_ENST00000366595.3_Intron	p.V751V	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2335	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	751			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Splice_Site	SNP	ENST00000264187.6	37	c.2253G>T	CCDS1608.1																																																																																				0.478	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	Silent	7	179	7	179	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237806690	237806690	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:237806690C>A	ENST00000366574.2	+	48	7602	c.7285C>A	c.(7285-7287)Ctg>Atg	p.L2429M	RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2429	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCATTCCCCTGGGAGATTT	0.428																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7285-7287)Ctg>Atg		ryanodine receptor 2 (cardiac)							192.0	182.0	185.0					1																	237806690		1882	4108	5990	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806690C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7285C>A	1.37:g.237806690C>A	ENSP00000355533:p.Leu2429Met		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	p.L2429M	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7602	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2429			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7285C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.023	0.759998	0.15846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.21;-4.21	5.4	-5.05	0.02955	.	0.295501	0.23162	N	0.051224	D	0.94149	0.8123	L	0.43757	1.38	0.35059	D	0.761416	P	0.48503	0.911	P	0.53861	0.736	D	0.91731	0.5396	10	0.45353	T	0.12	.	9.2442	0.37515	0.0941:0.3672:0.0:0.5387	.	2429	Q92736	RYR2_HUMAN	M	2429;2427;2413	ENSP00000355533:L2429M;ENSP00000353174:L2427M;ENSP00000443798:L2413M	ENSP00000353174:L2427M	L	+	1	2	RYR2	235873313	0.000000	0.05858	0.697000	0.30258	0.421000	0.31385	-0.617000	0.05584	-0.898000	0.03906	-1.021000	0.02439	CTG		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	138	6	138	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072328	240072328	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:240072328G>T	ENST00000255380.4	+	5	2356	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	526	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAAACCTTTTGGAATCTGGGC	0.483																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1576-1578)tGg>tTg		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						127.0	107.0	114.0					1																	240072328		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072328G>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1577G>T	1.37:g.240072328G>T	ENSP00000255380:p.Trp526Leu		Somatic					p.W526L	NM_000740.2	NP_000731.1	WXS	Illumina GAIIx	Phase_I	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2356	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	526					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1577G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252329	0.80135	.	.	ENSG00000133019	ENST00000255380	T	0.70164	-0.46	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86351	0.1711	10	0.87932	D	0	-8.1526	19.8984	0.96975	0.0:0.0:1.0:0.0	.	526	P20309	ACM3_HUMAN	L	526	ENSP00000255380:W526L	ENSP00000255380:W526L	W	+	2	0	CHRM3	238138951	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	TGG		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		5	83	5	83	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247013490	247013490	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:247013490C>A	ENST00000391829.2	-	33	5941	c.5818G>T	c.(5818-5820)Ggg>Tgg	p.G1940W	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G1975W|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1940	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTCTCTCCCTCTGACCCTT	0.393																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5923-5925)Ggg>Tgg		AT hook containing transcription factor 1							175.0	171.0	173.0					1																	247013490		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013490C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5818G>T	1.37:g.247013490C>A	ENSP00000375705:p.Gly1940Trp		Somatic				AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1940W	p.G1975W			WXS	Illumina GAIIx	Phase_I	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6059	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1940			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5923G>T		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311674	0.40895	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31510	1.49;1.49;1.49	5.37	1.44	0.22558	.	0.760740	0.12294	N	0.481755	T	0.32194	0.0821	L	0.29908	0.895	0.09310	N	1	D;D;D	0.59767	0.986;0.984;0.973	P;P;P	0.55455	0.776;0.702;0.506	T	0.11690	-1.0577	10	0.66056	D	0.02	-1.3704	7.3273	0.26563	0.0:0.4751:0.0:0.5249	.	801;1975;1940	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	W	1975;1949;1940	ENSP00000355464:G1975W;ENSP00000355465:G1949W;ENSP00000375705:G1940W	ENSP00000355465:G1949W	G	-	1	0	AHCTF1	245080113	0.063000	0.20901	0.016000	0.15963	0.001000	0.01503	0.961000	0.29267	0.521000	0.28445	-0.345000	0.07892	GGG		0.393	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		6	174	6	174	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308458	248308458	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248308458G>T	ENST00000366476.1	+	1	9	c.9G>T	c.(7-9)tgG>tgT	p.W3C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATGGCATGGGAGAATCAGA	0.413																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(7-9)tgG>tgT		olfactory receptor, family 2, subfamily M, member 5							190.0	188.0	189.0					1																	248308458		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308458G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.9G>T	1.37:g.248308458G>T	ENSP00000355432:p.Trp3Cys		Somatic					p.W3C	NM_001004690.1	NP_001004690.1	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	9	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		3						Missense_Mutation	SNP	ENST00000366476.1	37	c.9G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.765854	0.31228	.	.	ENSG00000162727	ENST00000366476	T	0.00575	6.46	2.86	0.873	0.19118	.	0.656368	0.11748	U	0.533334	T	0.01156	0.0038	L	0.53249	1.67	0.09310	N	0.999999	P	0.51449	0.945	P	0.54629	0.757	T	0.53556	-0.8422	10	0.36615	T	0.2	.	7.4878	0.27443	0.2491:0.0:0.7509:0.0	.	3	A3KFT3	OR2M5_HUMAN	C	3	ENSP00000355432:W3C	ENSP00000355432:W3C	W	+	3	0	OR2M5	246375081	0.000000	0.05858	0.037000	0.18230	0.174000	0.22865	-0.675000	0.05227	0.475000	0.27415	0.492000	0.49549	TGG		0.413	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		8	283	8	283	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cCt>cAt		olfactory receptor, family 2, subfamily M, member 3							284.0	278.0	280.0					1																	248366998		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366998C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.629C>A	1.37:g.248366998C>A	ENSP00000389625:p.Pro210His		Somatic					p.P210H	NM_001004689.1	NP_001004689.1	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	667	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		210					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.629C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004110	0.35320	.	.	ENSG00000228198	ENST00000456743	T	0.57273	0.41	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.75693	0.3884	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65195	-0.6227	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	H	210	ENSP00000389625:P210H	ENSP00000389625:P210H	P	+	2	0	OR2M3	246433621	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	0.863000	0.27913	1.356000	0.45884	0.398000	0.26397	CCT		0.418	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		9	336	9	336	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24933958	24933958	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:24933958C>A	ENST00000406961.1	+	14	3229	c.2577C>A	c.(2575-2577)gcC>gcA	p.A859A	NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000405141.1_Silent_p.A859A|NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	859	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCACTGCCAGACCCACTT	0.468			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2575-2577)gcC>gcA		nuclear receptor coactivator 1							75.0	71.0	72.0					2																	24933958		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24933958C>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2577C>A	2.37:g.24933958C>A			Somatic				NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A|NCOA1_ENST00000406961.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A	p.A859A			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			15	3288	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		859			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2577C>A	CCDS1712.1																																																																																				0.468	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	41	4	41	---	---	---	---
CAD	790	broad.mit.edu	37	2	27446507	27446507	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27446507G>T	ENST00000403525.1	+	7	1030	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	CAD_ENST00000264705.4_Missense_Mutation_p.G296W			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAACCATGGGTTTGCTGT	0.557																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(886-888)Ggg>Tgg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						217.0	208.0	211.0					2																	27446507		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446507G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.886G>T	2.37:g.27446507G>T	ENSP00000384510:p.Gly296Trp		Somatic				CAD_ENST00000403525.1_Missense_Mutation_p.G296W	p.G296W	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			7	1048	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		296			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.886G>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.581411	0.86748	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.91843	-2.92;-2.92	5.24	5.24	0.73138	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99916	4.945	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-12.117	16.3043	0.82842	0.0:0.0:1.0:0.0	.	296;296	F8VPD4;P27708	.;PYR1_HUMAN	W	296	ENSP00000264705:G296W;ENSP00000384510:G296W	ENSP00000264705:G296W	G	+	1	0	CAD	27300011	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.242000	0.95408	2.449000	0.82847	0.491000	0.48974	GGG		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	254	7	254	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296096	29296096	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:29296096G>T	ENST00000331664.5	-	1	1031	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	344					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGAGCATAAGGGGAGACCCT	0.602																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1030-1032)ccC>ccA		chromosome 2 open reading frame 71							51.0	56.0	55.0					2																	29296096		2186	4275	6461	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296096G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1032C>A	2.37:g.29296096G>T			Somatic					p.P344P	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	A6NGG8	CB071_HUMAN			1	1031	-			344						Silent	SNP	ENST00000331664.5	37	c.1032C>A	CCDS42669.1																																																																																				0.602	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		7	92	7	92	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37455747	37455747	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:37455747G>T	ENST00000234170.5	-	2	734	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(589-591)Cag>Aag		CCAAT/enhancer binding protein (C/EBP), zeta							120.0	124.0	123.0					2																	37455747		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455747G>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.589C>A	2.37:g.37455747G>T	ENSP00000234170:p.Gln197Lys		Somatic					p.Q197K	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			2	734	-		all_hematologic(82;0.21)	197					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.589C>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501921	0.44455	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.02369	4.32	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	M	0.71581	2.175	0.58432	D	0.999999	D	0.65815	0.995	P	0.61477	0.889	T	0.00028	-1.2297	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	197	Q03701	CEBPZ_HUMAN	K	197	ENSP00000234170:Q197K	ENSP00000234170:Q197K	Q	-	1	0	CEBPZ	37309251	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.344000	0.79328	2.666000	0.90696	0.655000	0.94253	CAG		0.388	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		5	104	5	104	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58359012	58359012	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:58359012C>A	ENST00000435505.2	+	12	1491	c.746C>A	c.(745-747)cCc>cAc	p.P249H	VRK2_ENST00000412104.2_Missense_Mutation_p.P249H|VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GGGAAACTTCCCTGGGAACAG	0.468																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(745-747)cCc>cAc		vaccinia related kinase 2							137.0	118.0	124.0					2																	58359012		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58359012C>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.746C>A	2.37:g.58359012C>A	ENSP00000408002:p.Pro249His		Somatic				VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000412104.2_Missense_Mutation_p.P249H	p.P249H			WXS	Illumina GAIIx	Phase_I	Q86Y07	VRK2_HUMAN			12	1491	+			249			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.746C>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910263	0.92107	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	H	0.99565	4.63	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	D	0.87780	0.2611	10	0.87932	D	0	-10.6237	20.6593	0.99626	0.0:1.0:0.0:0.0	.	253;249;249;249	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	H	249;249;253;249;249;249;226	ENSP00000408002:P249H;ENSP00000402375:P249H;ENSP00000404156:P249H;ENSP00000342381:P249H;ENSP00000398323:P226H	ENSP00000342381:P249H	P	+	2	0	VRK2	58212516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCC		0.468	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		7	75	7	75	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69002503	69002503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:69002503G>T	ENST00000295381.3	+	2	631	c.212G>T	c.(211-213)aGg>aTg	p.R71M	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	71	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTTGTGCTGAGGGCGCAGCAG	0.592																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(211-213)aGg>aTg		Rho GTPase activating protein 25							120.0	127.0	124.0					2																	69002503		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002503G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.212G>T	2.37:g.69002503G>T	ENSP00000295381:p.Arg71Met		Somatic				ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M	p.R71M	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			2	631	+			71			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.212G>T		.	.	.	.	.	.	.	.	.	.	G	18.96	3.734194	0.69189	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.58	-0.138	0.13464	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.266335	0.41712	D	0.000824	D	0.87034	0.6077	H	0.94808	3.585	0.23669	N	0.997155	D;D;D;D;D;D;D	0.65815	0.995;0.978;0.979;0.979;0.979;0.989;0.981	P;D;P;P;P;P;D	0.63488	0.853;0.911;0.767;0.845;0.845;0.843;0.915	T	0.77199	-0.2675	10	0.87932	D	0	.	4.9625	0.14074	0.4196:0.0:0.4393:0.1411	.	71;45;71;64;64;64;71	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	45;71;71;71;64;64;64;64	ENSP00000439917:R45M;ENSP00000295381:R71M;ENSP00000386911:R71M;ENSP00000420583:R71M;ENSP00000386863:R64M;ENSP00000386241:R64M;ENSP00000417139:R64M	ENSP00000295381:R71M	R	+	2	0	ARHGAP25	68856007	0.959000	0.32827	0.890000	0.34922	0.656000	0.38851	0.863000	0.27913	0.049000	0.15920	0.563000	0.77884	AGG		0.592	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		7	194	7	194	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74177856	74177856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74177856C>A	ENST00000264093.4	+	4	673	c.588C>A	c.(586-588)ccC>ccA	p.P196P	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000356837.6_Silent_p.P174P	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	196					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)	p.P196P(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	AGGCTTCTCCCCAGGTAACAC	0.473																																						ENST00000264093.4																			1	Substitution - coding silent(1)	p.P196P(1)	lung(1)	endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(586-588)ccC>ccA		deoxyguanosine kinase							206.0	205.0	205.0					2																	74177856		2203	4300	6503	SO:0001819	synonymous_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74177856C>A	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.588C>A	2.37:g.74177856C>A			Somatic				DGUOK_ENST00000356837.6_Silent_p.P174P|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA	p.P196P	NM_080916.2	NP_550438.1	WXS	Illumina GAIIx	Phase_I	Q16854	DGUOK_HUMAN			4	673	+			196					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.588C>A	CCDS1931.1																																																																																				0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			7	228	7	228	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74718660	74718660	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74718660G>T	ENST00000233623.5	+	8	744	c.737G>T	c.(736-738)gGg>gTg	p.G246V	TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Missense_Mutation_p.G246V	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	246										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CGCAAGGTTGGGGATTGGCCC	0.552																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(736-738)gGg>gTg		tetratricopeptide repeat domain 31							231.0	223.0	225.0					2																	74718660		1916	4124	6040	SO:0001583	missense	64427						binding	g.chr2:74718660G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.737G>T	2.37:g.74718660G>T	ENSP00000233623:p.Gly246Val		Somatic				TTC31_ENST00000233623.5_Missense_Mutation_p.G246V|TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR	p.G246V			WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			8	746	+			246					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.737G>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652399	0.47362	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.64803	1.29;-0.12;0.05	4.31	1.28	0.21552	.	0.129297	0.33023	N	0.005377	T	0.46367	0.1389	L	0.29908	0.895	0.44175	D	0.996985	B;B;B;B	0.30709	0.18;0.113;0.113;0.291	B;B;B;B	0.33254	0.16;0.052;0.077;0.031	T	0.34304	-0.9834	10	0.66056	D	0.02	.	6.7969	0.23731	0.0:0.1744:0.4664:0.3592	.	102;216;246;175	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	V	175;246;246;102;246	ENSP00000387213:G246V;ENSP00000416823:G102V;ENSP00000233623:G246V	ENSP00000233623:G246V	G	+	2	0	TTC31	74572168	0.989000	0.36119	0.870000	0.34147	0.617000	0.37484	1.185000	0.32065	0.140000	0.18849	0.561000	0.74099	GGG		0.552	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		8	310	8	310	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89266205	89266205	+	RNA	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89266205G>T	ENST00000464162.1	-	0	81									immunoglobulin kappa variable 1-6																		ATCCTTACCTGGGAGCCAGAG	0.557																																						ENST00000464162.1																			0																				133.0	127.0	129.0					2																	89266205		1908	4123	6031			28943							g.chr2:89266205G>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89266205G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	81	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.557	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		7	231	7	231	---	---	---	---
IGKV2-30	28919	broad.mit.edu	37	2	89544388	89544388	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89544388C>A	ENST00000468494.1	-	0	265									immunoglobulin kappa variable 2-30																		CCCAGAGTCCCGGTTAGAAAC	0.498																																						ENST00000468494.1																			0																				129.0	126.0	127.0					2																	89544388		1831	4085	5916			28919							g.chr2:89544388C>A	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544388C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	265	-									RNA	SNP	ENST00000468494.1	37																																																																																						0.498	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		6	234	6	234	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128463962	128463962	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128463962C>A	ENST00000322313.4	-	22	4104	c.3946G>T	c.(3946-3948)Ggg>Tgg	p.G1316W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGTTACTCCCTCTACCCCAG	0.617																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3946-3948)Ggg>Tgg		WD repeat domain 33							98.0	107.0	104.0					2																	128463962		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128463962C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3946G>T	2.37:g.128463962C>A	ENSP00000325377:p.Gly1316Trp		Somatic					p.G1316W	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	22	4104	-	Colorectal(110;0.1)		1316					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3946G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633674	0.67130	.	.	ENSG00000136709	ENST00000322313	D	0.92805	-3.11	5.47	5.47	0.80525	.	0.073163	0.56097	D	0.000037	D	0.92731	0.7689	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94215	0.7462	10	0.87932	D	0	-9.3029	19.6923	0.96007	0.0:1.0:0.0:0.0	.	1316	Q9C0J8	WDR33_HUMAN	W	1316	ENSP00000325377:G1316W	ENSP00000325377:G1316W	G	-	1	0	WDR33	128180432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.699000	0.68310	2.712000	0.92718	0.650000	0.86243	GGG		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	196	7	196	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832650	130832650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:130832650C>A	ENST00000409914.2	-	17	2794	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	POTEF_ENST00000357462.5_Nonsense_Mutation_p.E799*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	799	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E799K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGCTCCTCGGGAGCCACA	0.577																																						ENST00000357462.5																			1	Substitution - Missense(1)	p.E799K(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2395-2397)Gag>Tag		POTE ankyrin domain family, member F							94.0	101.0	99.0					2																	130832650		2203	4300	6503	SO:0001587	stop_gained	728378					cell cortex	ATP binding	g.chr2:130832650C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2395G>T	2.37:g.130832650C>A	ENSP00000386786:p.Glu799*		Somatic				POTEF_ENST00000409914.2_Nonsense_Mutation_p.E799*	p.E799*			WXS	Illumina GAIIx	Phase_I	A5A3E0	POTEF_HUMAN			15	2488	-			799			Actin-like.		A6NC34	Nonsense_Mutation	SNP	ENST00000409914.2	37	c.2395G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	27.3	4.821361	0.90873	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	.	.	.	X	799	.	ENSP00000350052:E799X	E	-	1	0	POTEF	130549120	1.000000	0.71417	0.167000	0.22817	0.169000	0.22640	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GAG		0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		6	165	6	165	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136626319	136626319	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:136626319C>A	ENST00000264156.2	-	4	537	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	159					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCTGACAGTCCAAGCACAGAA	0.502																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(475-477)ttG>ttT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						149.0	139.0	143.0					2																	136626319		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626319C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.477G>T	2.37:g.136626319C>A	ENSP00000264156:p.Leu159Phe		Somatic					p.L159F	NM_005915.5	NP_005906.2	WXS	Illumina GAIIx	Phase_I	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	537	-			159					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.477G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567468	0.65651	.	.	ENSG00000076003	ENST00000264156	T	0.04454	3.62	5.82	1.83	0.25207	Nucleic acid-binding, OB-fold-like (1);	0.119284	0.56097	D	0.000038	T	0.10852	0.0265	M	0.88979	2.995	0.58432	D	0.999999	P	0.41475	0.751	P	0.45474	0.482	T	0.01262	-1.1402	10	0.56958	D	0.05	-7.9031	3.1962	0.06634	0.2209:0.4403:0.2145:0.1243	.	159	Q14566	MCM6_HUMAN	F	159	ENSP00000264156:L159F	ENSP00000264156:L159F	L	-	3	2	MCM6	136342789	0.919000	0.31177	0.999000	0.59377	0.997000	0.91878	0.099000	0.15210	0.362000	0.24319	0.557000	0.71058	TTG		0.502	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		6	122	6	122	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152404242	152404242	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:152404242C>A	ENST00000172853.10	-	104	15212	c.15065G>T	c.(15064-15066)cGg>cTg	p.R5022L	NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000427231.2_Missense_Mutation_p.R6723L|NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L			P20929	NEBU_HUMAN	nebulin	5022					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACAATTCCCGATACAGTCT	0.438																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(20167-20169)cGg>cTg		nebulin							121.0	110.0	114.0					2																	152404242		1885	4124	6009	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152404242C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15065G>T	2.37:g.152404242C>A	ENSP00000172853:p.Arg5022Leu		Somatic				NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000172853.10_Missense_Mutation_p.R5022L|NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L	p.R6723L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	132	20370	-			5022					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.20168G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.325503	0.95708	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.10382	2.95;2.88;2.88;2.9;2.95	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.87578	0.998;0.891	T	0.00740	-1.1586	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	5022;1453	P20929;Q14215	NEBU_HUMAN;.	L	5022;6723;6723;1071;1453;5022	ENSP00000386259:R5022L;ENSP00000380505:R6723L;ENSP00000416578:R6723L;ENSP00000410961:R1453L;ENSP00000172853:R5022L	ENSP00000172853:R5022L	R	-	2	0	NEB	152112488	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	5.554000	0.67294	2.781000	0.95711	0.650000	0.86243	CGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	24	3	24	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751333	162751333	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:162751333C>A	ENST00000446997.1	+	11	1432	c.1339C>A	c.(1339-1341)Cag>Aag	p.Q447K	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.Q428K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGTTCCTTCCCAGGTATGTAT	0.303																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1282-1284)Cag>Aag		solute carrier family 4, sodium bicarbonate transporter, member 10							103.0	96.0	98.0					2																	162751333		1804	4074	5878	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751333C>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1339C>A	2.37:g.162751333C>A	ENSP00000393066:p.Gln447Lys		Somatic				SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K	p.Q428K	NM_001178016.1	NP_001171487.1	WXS	Illumina GAIIx	Phase_I	Q6U841	S4A10_HUMAN			11	1569	+			447					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1282C>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184124	0.78677	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.89904	3.07	0.80722	D	1	D;B;D;D	0.71674	0.998;0.125;0.998;0.979	D;B;D;P	0.87578	0.998;0.082;0.998;0.628	D	0.92305	0.5853	10	0.52906	T	0.07	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	428;447;417;447	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	428;417;417;416;447;447;446	ENSP00000364664:Q428K;ENSP00000395797:Q417K;ENSP00000272716:Q417K;ENSP00000393066:Q447K;ENSP00000404486:Q447K	ENSP00000272716:Q417K	Q	+	1	0	SLC4A10	162459579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.686000	0.91538	0.655000	0.94253	CAG		0.303	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	114	5	114	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168098403	168098403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:168098403C>A	ENST00000409728.1	+	9	1347	c.1258C>A	c.(1258-1260)Cca>Aca	p.P420T	XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409195.1_Missense_Mutation_p.P387T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	212					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGACAACCCCAGCCAAGCA	0.353																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1159-1161)Cca>Aca		xin actin-binding repeat containing 2							116.0	109.0	111.0					2																	168098403		1837	4087	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168098403C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1258C>A	2.37:g.168098403C>A	ENSP00000386619:p.Pro420Thr		Somatic				XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409728.1_Missense_Mutation_p.P420T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	p.P387T	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			8	1248	+			212					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.1159C>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455744	0.63401	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.79845	-1.27;-1.27;4.06;-1.27;-1.27;4.06;4.09;-1.31	5.27	5.27	0.74061	.	0.388255	0.28635	N	0.014644	D	0.87374	0.6161	M	0.62723	1.935	0.43118	D	0.994834	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.998;0.999;0.994;0.992	D	0.87835	0.2647	10	0.62326	D	0.03	-14.8165	12.8056	0.57612	0.0:0.9212:0.0:0.0788	.	212;387;420;212;165	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	T	387;420;387;387;420;387;165;165	ENSP00000386454:P387T;ENSP00000386619:P420T;ENSP00000386840:P387T;ENSP00000386724:P387T;ENSP00000415541:P420T;ENSP00000295237:P387T;ENSP00000387255:P165T;ENSP00000386981:P165T	ENSP00000295237:P387T	P	+	1	0	XIRP2	167806649	0.993000	0.37304	0.963000	0.40424	0.965000	0.64279	3.071000	0.50041	2.633000	0.89246	0.591000	0.81541	CCA		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		7	139	7	139	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463879	179463879	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179463879G>T	ENST00000591111.1	-	240	51942	c.51718C>A	c.(51718-51720)Ctc>Atc	p.L17240I	TTN_ENST00000589042.1_Missense_Mutation_p.L18881I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I			Q8WZ42	TITIN_HUMAN	titin	17240	Fibronectin type-III 24. {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)			TTACAGAAGAGGTTTCTTGCT	0.353																																						ENST00000589042.1																			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.(56641-56643)Ctc>Atc		titin							242.0	236.0	238.0					2																	179463879		1862	4085	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463879G>T	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.51718C>A	2.37:g.179463879G>T	ENSP00000465570:p.Leu17240Ile		Somatic				TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I|TTN_ENST00000591111.1_Missense_Mutation_p.L17240I|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I	p.L18881I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	56865	-			17240		R -> K (in a metastatic melanoma sample; somatic mutation).	Ig-like 107.		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.56641C>A		.	.	.	.	.	.	.	.	.	.	G	11.76	1.734031	0.30684	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.98	4.18	0.49190	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47600	0.1454	L	0.46670	1.46	0.36209	D	0.851254	B;B;B;B	0.30851	0.297;0.297;0.297;0.297	B;B;B;B	0.31390	0.081;0.081;0.081;0.129	T	0.60616	-0.7228	9	0.87932	D	0	.	13.2546	0.60070	0.1308:0.0:0.8692:0.0	.	9816;9941;10008;17240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16313;9816;10008;9941;9814	ENSP00000343764:L16313I;ENSP00000434586:L9816I;ENSP00000340554:L10008I;ENSP00000352154:L9941I	ENSP00000340554:L10008I	L	-	1	0	TTN	179172124	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	4.810000	0.62598	1.540000	0.49301	0.650000	0.86243	CTC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	360	8	360	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497435	179497435	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179497435C>A	ENST00000591111.1	-	185	38599	c.38375G>T	c.(38374-38376)aGg>aTg	p.R12792M	TTN_ENST00000589042.1_Missense_Mutation_p.R14433M|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M			Q8WZ42	TITIN_HUMAN	titin	12792	Ig-like 85.				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)			TTTGGGCTCCCTGGATACTTC	0.423																																						ENST00000589042.1																			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.(43297-43299)aGg>aTg		titin							175.0	172.0	173.0					2																	179497435		1900	4111	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497435C>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.38375G>T	2.37:g.179497435C>A	ENSP00000465570:p.Arg12792Met		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M|TTN_ENST00000591111.1_Missense_Mutation_p.R12792M|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M	p.R14433M	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		235	43522	-			12792			Fibronectin type-III 4.		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.43298G>T		.	.	.	.	.	.	.	.	.	.	C	14.83	2.651076	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84701	0.5530	M	0.84082	2.675	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85022	0.0912	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	5368;5493;5560;12792	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	11865;5368;5560;5493;5368	ENSP00000343764:R11865M;ENSP00000434586:R5368M;ENSP00000340554:R5560M;ENSP00000352154:R5493M	ENSP00000340554:R5560M	R	-	2	0	TTN	179205680	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	AGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	226	7	226	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878372	197878372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:197878372C>A	ENST00000328737.2	-	18	1788	c.1712G>T	c.(1711-1713)aGg>aTg	p.R571M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	596								p.R411M(1)|p.R571M(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCTCATCCCTGATGTCCAG	0.517																																						ENST00000328737.2																			2	Substitution - Missense(2)	p.R411M(1)|p.R571M(1)	lung(2)	NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1711-1713)aGg>aTg		ankyrin repeat domain 44							222.0	211.0	215.0					2																	197878372		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197878372C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1712G>T	2.37:g.197878372C>A	ENSP00000331516:p.Arg571Met		Somatic				ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M	p.R571M			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1788	-			596					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1712G>T		.	.	.	.	.	.	.	.	.	.	C	16.21	3.058915	0.55325	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.43	4.43	0.53597	.	0.229124	0.45606	D	0.000351	T	0.72252	0.3437	L	0.55481	1.735	0.80722	D	1	P	0.49961	0.93	P	0.60345	0.873	T	0.72564	-0.4255	10	0.51188	T	0.08	.	8.5228	0.33287	0.0:0.8577:0.0:0.1423	.	614	Q8N8A2-2	.	M	411;588;571;571;571;271	ENSP00000403415:R411M;ENSP00000282272:R588M;ENSP00000331516:R571M;ENSP00000402420:R571M;ENSP00000338794:R571M;ENSP00000416319:R271M	ENSP00000282272:R588M	R	-	2	0	ANKRD44	197586617	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.535000	0.36061	2.294000	0.77228	0.655000	0.94253	AGG		0.517	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		8	230	8	230	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209047698	209047698	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:209047698C>A	ENST00000341287.4	-	4	392	c.197G>T	c.(196-198)tGg>tTg	p.W66L	C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	66										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAGTTCCTCCCACTCCAGCCA	0.453																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(196-198)tGg>tTg		chromosome 2 open reading frame 80							159.0	154.0	156.0					2																	209047698		1937	4157	6094	SO:0001583	missense	389073							g.chr2:209047698C>A	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.197G>T	2.37:g.209047698C>A	ENSP00000343171:p.Trp66Leu		Somatic				C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	p.W66L	NM_001099334.2	NP_001092804	WXS	Illumina GAIIx	Phase_I	Q0P641	CB080_HUMAN			4	392	-			66					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.197G>T	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874155	0.51695	.	.	ENSG00000188674	ENST00000341287;ENST00000451346;ENST00000453017;ENST00000449053	T;T;T	0.58060	1.18;0.98;0.36	5.43	4.54	0.55810	.	0.526537	0.17787	N	0.162039	T	0.39809	0.1092	L	0.32530	0.975	0.30661	N	0.754442	B	0.34015	0.435	B	0.33620	0.167	T	0.44967	-0.9293	10	0.40728	T	0.16	2.9404	8.4266	0.32733	0.0:0.8268:0.0:0.1732	.	66	Q0P641	CB080_HUMAN	L	66;47;66;66	ENSP00000343171:W66L;ENSP00000405393:W47L;ENSP00000397144:W66L	ENSP00000343171:W66L	W	-	2	0	C2orf80	208755943	0.011000	0.17503	0.864000	0.33941	0.515000	0.34225	0.473000	0.22132	1.502000	0.48669	0.655000	0.94253	TGG		0.453	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		7	207	7	207	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212426647	212426647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:212426647C>A	ENST00000342788.4	-	20	2778	c.2468G>T	c.(2467-2469)tGg>tTg	p.W823L	ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTGGACACACCAGTTAAGCAG	0.408										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2467-2469)tGg>tTg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							139.0	129.0	132.0					2																	212426647		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426647C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2468G>T	2.37:g.212426647C>A	ENSP00000342235:p.Trp823Leu	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	p.W823L	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2778	-		Renal(323;0.06)|Lung NSC(271;0.197)	823			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2468G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646423	0.87958	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.60171	0.21;0.21;0.21	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	T	0.72027	-0.4414	10	0.87932	D	0	.	18.625	0.91334	0.0:1.0:0.0:0.0	.	813;813;823;823	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	823;823;813	ENSP00000342235:W823L;ENSP00000403204:W823L;ENSP00000385565:W813L	ENSP00000342235:W823L	W	-	2	0	ERBB4	212134892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.462000	0.83206	0.655000	0.94253	TGG		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		6	182	6	182	---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219136176	219136176	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:219136176C>A	ENST00000273077.4	+	2	191	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	AAMP_ENST00000444053.1_5'Flank|PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q|AAMP_ENST00000248450.4_5'Flank|AAMP_ENST00000420660.1_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	47				P -> S (in Ref. 9; AAH36457). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGCTCCCCAGAGGGCAAG	0.572																																						ENST00000273077.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(139-141)cCa>cAa		paroxysmal nonkinesigenic dyskinesia							70.0	78.0	75.0					2																	219136176		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219136176C>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.140C>A	2.37:g.219136176C>A	ENSP00000273077:p.Pro47Gln		Somatic				PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q	p.P47Q	NM_015488.4	NP_056303.3	WXS	Illumina GAIIx	Phase_I	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	191	+		Renal(207;0.0474)	47	P -> S (in Ref. 9; AAH36457).				A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.140C>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944489	0.53079	.	.	ENSG00000127838	ENST00000248451;ENST00000273077	D;D	0.96685	-2.15;-4.09	5.25	3.4	0.38934	.	0.245962	0.32769	N	0.005665	D	0.89532	0.6742	N	0.14661	0.345	0.28464	N	0.91573	B;B	0.29432	0.244;0.0	B;B	0.21917	0.037;0.002	D	0.84779	0.0772	10	0.62326	D	0.03	-0.5303	7.6523	0.28354	0.1603:0.7549:0.0:0.0848	.	47;47	Q8N490;Q8N490-2	PNKD_HUMAN;.	Q	47	ENSP00000248451:P47Q;ENSP00000273077:P47Q	ENSP00000248451:P47Q	P	+	2	0	PNKD	218844420	0.006000	0.16342	0.982000	0.44146	0.936000	0.57629	1.428000	0.34892	1.184000	0.42957	0.561000	0.74099	CCA		0.572	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			5	91	5	91	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:226446710C>A	ENST00000272907.6	+	4	990	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	193					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GATTCCTCCTCCCAAACCGAA	0.478																																						ENST00000272907.6																			0											c.(577-579)Ccc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							110.0	114.0	113.0					2																	226446710		1918	4119	6037	SO:0001583	missense	57624							g.chr2:226446710C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.577C>A	2.37:g.226446710C>A	ENSP00000272907:p.Pro193Thr		Somatic				NYAP2_ENST00000409269.2_Intron	p.P193T	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	990	+			193					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.577C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342251	0.81911	.	.	ENSG00000144460	ENST00000272907	T	0.46063	0.88	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63449	-0.6635	10	0.46703	T	0.11	-21.5056	20.3541	0.98825	0.0:1.0:0.0:0.0	.	193	Q9P242	K1486_HUMAN	T	193	ENSP00000272907:P193T	ENSP00000272907:P193T	P	+	1	0	KIAA1486	226154954	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.484000	0.81180	2.816000	0.96949	0.644000	0.83932	CCC		0.478	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		7	206	7	206	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233245442	233245442	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233245442C>A	ENST00000392027.2	+	8	1244	c.975C>A	c.(973-975)ccC>ccA	p.P325P	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	325					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGAACCCCCGCGGCTTCT	0.647																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(973-975)ccC>ccA		alkaline phosphatase, placental							56.0	68.0	64.0					2																	233245442		2201	4298	6499	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245442C>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.975C>A	2.37:g.233245442C>A			Somatic				AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	p.P325P	NM_001632.3	NP_001623.3	WXS	Illumina GAIIx	Phase_I	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	1244	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	325					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.975C>A	CCDS2490.1																																																																																				0.647	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		5	58	5	58	---	---	---	---
KCNJ13	3769	broad.mit.edu	37	2	233635818	233635818	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233635818C>A	ENST00000233826.3	-	2	394	c.255G>T	c.(253-255)ctG>ctT	p.L85L	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000373566.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	85					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCTAGTTCCAGATCACCAT	0.468																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(253-255)ctG>ctT		potassium inwardly-rectifying channel, subfamily J, member 13							234.0	217.0	223.0					2																	233635818		2203	4300	6503	SO:0001819	synonymous_variant	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635818C>A	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.255G>T	2.37:g.233635818C>A			Somatic				GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron	p.L85L	NM_002242.4	NP_002233.2	WXS	Illumina GAIIx	Phase_I	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	394	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	85					A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	37	c.255G>T	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	C	8.185	0.794707	0.16327	.	.	ENSG00000115474	ENST00000444142	.	.	.	5.6	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9962	0.30269	0.1211:0.6925:0.1176:0.0687	.	.	.	.	X	53	.	.	G	-	1	0	KCNJ13	233344062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.012000	0.40932	2.628000	0.89032	0.655000	0.94253	GGA		0.468	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		5	125	5	125	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234113040	234113040	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234113040C>A	ENST00000359570.5	+	28	3208	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R	INPP5D_ENST00000450745.1_Silent_p.R834R|RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Silent_p.R834R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1082	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCGCGCCCCGGCTGCGCTC	0.726																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3208-3210)Cgg>Agg		inositol polyphosphate-5-phosphatase, 145kDa							11.0	15.0	14.0					2																	234113040		1868	4093	5961	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234113040C>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3208C>A	2.37:g.234113040C>A			Somatic				INPP5D_ENST00000450745.1_Silent_p.R834R|INPP5D_ENST00000455936.2_Silent_p.R834R	p.R1070R			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	28	3208	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.3208C>A																																																																																					0.726	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		3	16	3	16	---	---	---	---
UGT1A4	54657	broad.mit.edu	37	2	234628279	234628279	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234628279C>A	ENST00000373409.3	+	1	856	c.813C>A	c.(811-813)ccC>ccA	p.P271P	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	271					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CGATCATGCCCAACATGGTCT	0.512																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(811-813)ccC>ccA									137.0	139.0	138.0					2																	234628279		2203	4297	6500	SO:0001819	synonymous_variant	54657							g.chr2:234628279C>A	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.813C>A	2.37:g.234628279C>A			Somatic				UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron	p.P271P	NM_007120.2	NP_009051.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	856	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.813C>A	CCDS33405.1																																																																																				0.512	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		7	181	7	181	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238738070	238738070	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:238738070C>A	ENST00000409864.1	+	13	3068	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	RBM44_ENST00000316997.4_Silent_p.S938S			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	937						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGAATTCTCCATTTCTAGAT	0.413																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2812-2814)tcC>tcA		RNA binding motif protein 44							95.0	94.0	95.0					2																	238738070		1830	4084	5914	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238738070C>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2814C>A	2.37:g.238738070C>A			Somatic				RBM44_ENST00000409864.1_Silent_p.S938S	p.S938S	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	13	2946	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	937					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2814C>A	CCDS46554.1																																																																																				0.413	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		7	150	7	150	---	---	---	---
ARPC4	10093	broad.mit.edu	37	3	9845526	9845526	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9845526G>T	ENST00000397261.3	+	5	894		c.e5-1		ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa						actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTCTTCCCTAGGGGTATGATA	0.483																																						ENST00000397261.3																			0				breast(1)|lung(1)	2						c.e5-1		actin related protein 2/3 complex, subunit 4, 20kDa							200.0	207.0	205.0					3																	9845526		1969	4168	6137	SO:0001630	splice_region_variant	10093							g.chr3:9845526G>T	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.331-1G>T	3.37:g.9845526G>T			Somatic				ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron		NM_005718.4	NP_005709.1	WXS	Illumina GAIIx	Phase_I					5	894	+	Medulloblastoma(99;0.227)							C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Splice_Site	SNP	ENST00000397261.3	37		CCDS43047.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266658	0.40095	.	.	ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000250151	ENST00000498623;ENST00000287613;ENST00000397261;ENST00000433034;ENST00000453882	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC4-TTLL3;ARPC4	9820526	1.000000	0.71417	0.993000	0.49108	0.062000	0.15995	9.404000	0.97306	2.778000	0.95560	0.655000	0.94253	.		0.483	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959	Intron	7	205	7	205	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20219789	20219789	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:20219789G>T	ENST00000263753.4	-	4	529	c.390C>A	c.(388-390)tcC>tcA	p.S130S	SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000443724.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000412997.1_Silent_p.S130S	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	130	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ATAAATTTCTGGAGCTGTCAT	0.303																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(388-390)tcC>tcA		shugoshin-like 1 (S. pombe)							95.0	98.0	97.0					3																	20219789		2203	4299	6502	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20219789G>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.390C>A	3.37:g.20219789G>T			Somatic				SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000263753.4_Silent_p.S130S|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.S130S	p.S130S	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			4	741	-			130			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.390C>A	CCDS33716.1																																																																																				0.303	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		5	100	5	100	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38968409	38968409	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:38968409C>A	ENST00000302328.3	-	4	700	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W|SCN11A_ENST00000450244.1_Missense_Mutation_p.G168W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	168					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATAAATCCCAGTGAAGACA	0.363																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(502-504)Ggg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						71.0	75.0	74.0					3																	38968409		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38968409C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.502G>T	3.37:g.38968409C>A	ENSP00000307599:p.Gly168Trp		Somatic				SCN11A_ENST00000302328.3_Missense_Mutation_p.G168W|SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W	p.G168W			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	4	700	-			168					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.502G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660057	0.67586	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.64	3.76	0.43208	Ion transport (1);	0.216774	0.48286	D	0.000196	D	0.98658	0.9550	M	0.74546	2.27	0.28371	N	0.919999	D	0.76494	0.999	D	0.79784	0.993	D	0.94592	0.7788	10	0.87932	D	0	.	8.3503	0.32299	0.1569:0.7604:0.0:0.0827	.	168	Q9UI33	SCNBA_HUMAN	W	168	ENSP00000307599:G168W;ENSP00000400945:G168W;ENSP00000416757:G168W;ENSP00000408028:G168W	ENSP00000307599:G168W	G	-	1	0	SCN11A	38943413	0.470000	0.25854	1.000000	0.80357	0.995000	0.86356	3.766000	0.55280	2.658000	0.90341	0.563000	0.77884	GGG		0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		6	101	6	101	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42251446	42251446	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:42251446C>A	ENST00000327628.5	+	14	2332	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000341421.3_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	644					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCCTAGCTACCTCCACTCCAG	0.567																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1930-1932)acC>acA		trafficking protein, kinesin binding 1							119.0	103.0	109.0					3																	42251446		2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42251446C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1932C>A	3.37:g.42251446C>A			Somatic				TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T586T	p.T644T	NM_001042646.2	NP_001036111.1	WXS	Illumina GAIIx	Phase_I	Q9UPV9	TRAK1_HUMAN			14	2332	+			644					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1932C>A	CCDS43072.1																																																																																				0.567	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		5	70	5	70	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49691124	49691124	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49691124G>T	ENST00000296452.4	+	5	4249	c.4135G>T	c.(4135-4137)Ggg>Tgg	p.G1379W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1379					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGGGCCCTGGGACCCCAGC	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4135-4137)Ggg>Tgg		bassoon presynaptic cytomatrix protein							53.0	54.0	53.0					3																	49691124		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691124G>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4135G>T	3.37:g.49691124G>T	ENSP00000296452:p.Gly1379Trp		Somatic					p.G1379W	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4249	+			1379					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4135G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683234	0.29872	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.60455	1.87	0.44309	D	0.997189	D	0.76494	0.999	D	0.69142	0.962	T	0.22941	-1.0202	10	0.72032	D	0.01	.	14.5475	0.68041	0.0:0.0:0.853:0.147	.	1379	Q9UPA5	BSN_HUMAN	W	1379	ENSP00000296452:G1379W	ENSP00000296452:G1379W	G	+	1	0	BSN	49666128	1.000000	0.71417	0.933000	0.37362	0.469000	0.32828	4.622000	0.61240	2.466000	0.83321	0.462000	0.41574	GGG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	103	5	103	---	---	---	---
APEH	327	broad.mit.edu	37	3	49714355	49714355	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49714355C>A	ENST00000296456.5	+	10	1297	c.897C>A	c.(895-897)tcC>tcA	p.S299S	APEH_ENST00000438011.1_Silent_p.S299S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	299					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGATGACTCCCTGGCTGTCT	0.592																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(895-897)tcC>tcA		acylaminoacyl-peptide hydrolase							143.0	126.0	132.0					3																	49714355		2203	4300	6503	SO:0001819	synonymous_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49714355C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.897C>A	3.37:g.49714355C>A			Somatic				APEH_ENST00000438011.1_Silent_p.S299S	p.S299S	NM_001640.3	NP_001631.3	WXS	Illumina GAIIx	Phase_I	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1297	+			299					Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.897C>A	CCDS2801.1																																																																																				0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	117	7	117	---	---	---	---
ARF4	378	broad.mit.edu	37	3	57558024	57558024	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:57558024C>A	ENST00000303436.6	-	6	725	c.458G>T	c.(457-459)tGg>tTg	p.W153L	ARF4_ENST00000496292.1_Splice_Site_p.W126L|ARF4_ENST00000489843.1_Splice_Site_p.W44L	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	153					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTGAACATACCACTGTAAAGA	0.343																																						ENST00000303436.6																			0				large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(457-459)tGg>tTg		ADP-ribosylation factor 4							102.0	102.0	102.0					3																	57558024		2203	4300	6503	SO:0001630	splice_region_variant	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57558024C>A	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.457-1G>T	3.37:g.57558024C>A			Somatic				ARF4_ENST00000489843.1_Splice_Site_p.W44L|ARF4_ENST00000496292.1_Splice_Site_p.W126L	p.W153L	NM_001660.3	NP_001651.1	WXS	Illumina GAIIx	Phase_I	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	6	725	-			153					B2R7J7|P21371	Splice_Site	SNP	ENST00000303436.6	37	c.458G>T	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585210	0.86748	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.62498	0.02;0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	H	0.95328	3.655	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.68765	0.96;0.922	D	0.89798	0.3973	10	0.87932	D	0	-3.5504	19.3747	0.94503	0.0:1.0:0.0:0.0	.	126;153	C9JAK5;P18085	.;ARF4_HUMAN	L	153;126	ENSP00000306010:W153L;ENSP00000417501:W126L	ENSP00000306010:W153L	W	-	2	0	ARF4	57533064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.757000	0.85209	2.564000	0.86499	0.591000	0.81541	TGG		0.343	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660	Missense_Mutation	6	157	6	157	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62267307	62267307	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:62267307C>A	ENST00000474889.1	+	27	4212	c.3835C>A	c.(3835-3837)Ctt>Att	p.L1279I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1279	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACCGTCACCCTTATCAGCAA	0.418																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3835-3837)Ctt>Att		protein tyrosine phosphatase, receptor type, G							148.0	127.0	134.0					3																	62267307		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62267307C>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3835C>A	3.37:g.62267307C>A	ENSP00000418112:p.Leu1279Ile		Somatic				PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I|PTPRG-AS1_ENST00000479018.1_RNA	p.L1279I	NM_002841.3	NP_002832.3	WXS	Illumina GAIIx	Phase_I	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	27	4212	+			1279			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3835C>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399278	0.83120	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83914	-1.78;-1.78	4.98	4.1	0.47936	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.72894	2.215	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.968;0.974	D;P;D	0.87578	0.998;0.57;0.91	D	0.91373	0.5121	10	0.87932	D	0	.	15.4113	0.74923	0.0:0.8603:0.1397:0.0	.	525;1250;1279	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1279;1250	ENSP00000418112:L1279I;ENSP00000295874:L1250I	ENSP00000295874:L1250I	L	+	1	0	PTPRG	62242347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	1.302000	0.44855	0.655000	0.94253	CTT		0.418	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		5	98	5	98	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:78696802G>T	ENST00000464233.1	-	20	2929	c.2816C>A	c.(2815-2817)cCg>cAg	p.P939Q	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.P900Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2698-2700)cCg>cAg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							245.0	237.0	240.0					3																	78696802		1829	4094	5923	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78696802G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2816C>A	3.37:g.78696802G>T	ENSP00000420321:p.Pro939Gln		Somatic				ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939Q	p.P900Q			WXS	Illumina GAIIx	Phase_I	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	18	3696	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	939					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2699C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643122	0.67244	.	.	ENSG00000169855	ENST00000436010;ENST00000464233;ENST00000398414	T;T	0.60424	0.22;0.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	L	0.41236	1.265	0.80722	D	1	D;P;D	0.89917	1.0;0.951;0.988	D;P;D	0.91635	0.999;0.686;0.918	T	0.65364	-0.6186	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	903;939;900	Q9Y6N7-3;Q9Y6N7;Q9Y6N7-4	.;ROBO1_HUMAN;.	Q	900;939;943	ENSP00000406043:P900Q;ENSP00000420321:P939Q	.	P	-	2	0	ROBO1	78779492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.821000	0.97095	0.555000	0.69702	CCG		0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		7	395	7	395	---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398																																						ENST00000334529.5																			0				breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(187-189)Tgt>Cgt		B and T lymphocyte associated							139.0	131.0	133.0					3																	112198518		2203	4300	6503	SO:0001583	missense	151888				T cell costimulation		receptor activity	g.chr3:112198518A>G	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.187T>C	3.37:g.112198518A>G	ENSP00000333919:p.Cys63Arg		Somatic				BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	p.C63R	NM_181780.3	NP_861445	WXS	Illumina GAIIx	Phase_I	Q7Z6A9	BTLA_HUMAN			2	389	-		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)	63			Ig-like V-type.		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	ENST00000334529.5	37	c.187T>C	CCDS33819.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253609	0.59212	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.40476	1.03;1.03	3.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000099	T	0.54615	0.1869	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.993;0.999	T	0.56715	-0.7933	10	0.87932	D	0	-12.9693	8.28	0.31896	1.0:0.0:0.0:0.0	.	63;63	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	R	63	ENSP00000333919:C63R;ENSP00000373178:C63R	ENSP00000333919:C63R	C	-	1	0	BTLA	113681208	1.000000	0.71417	0.974000	0.42286	0.349000	0.29174	4.051000	0.57412	1.740000	0.51718	0.533000	0.62120	TGT		0.398	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354101.1	NM_181780		46	75	46	75	---	---	---	---
GTPBP8	29083	broad.mit.edu	37	3	112710070	112710070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112710070C>A	ENST00000383678.2	+	1	306	c.224C>A	c.(223-225)cCg>cAg	p.P75Q	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.P75Q|GTPBP8_ENST00000467752.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	75					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GACCCAAGCCCGGAGGACATA	0.622																																						ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(223-225)cCg>cAg		GTP-binding protein 8 (putative)							51.0	49.0	50.0					3																	112710070		2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710070C>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.224C>A	3.37:g.112710070C>A	ENSP00000373176:p.Pro75Gln		Somatic				GTPBP8_ENST00000383678.2_Missense_Mutation_p.P75Q	p.P75Q	NM_138485.1	NP_612494.1	WXS	Illumina GAIIx	Phase_I	Q8N3Z3	GTPB8_HUMAN			1	239	+			75					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.224C>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466133	0.43839	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.41400	1.01;1.0	6.17	2.35	0.29111	.	0.217596	0.39909	N	0.001237	T	0.21267	0.0512	N	0.08118	0	0.80722	D	1	B;B	0.22683	0.071;0.073	B;B	0.26770	0.052;0.073	T	0.04522	-1.0945	10	0.56958	D	0.05	-21.8216	5.8866	0.18884	0.0:0.2106:0.1288:0.6606	.	75;75	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	Q	75	ENSP00000373176:P75Q;ENSP00000373175:P75Q	ENSP00000295864:P75Q	P	+	2	0	GTPBP8	114192760	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	2.508000	0.45450	0.205000	0.20568	-1.105000	0.02106	CCG		0.622	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		4	58	4	58	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113507718	113507718	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:113507718C>A	ENST00000273398.3	+	7	983	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	292					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CGGGACTTCCCAGAGGTCTGT	0.388																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(874-876)cCa>cAa		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							97.0	104.0	102.0					3																	113507718		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113507718C>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.875C>A	3.37:g.113507718C>A	ENSP00000273398:p.Pro292Gln		Somatic				ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	p.P292Q	NM_001690.3	NP_001681.2	WXS	Illumina GAIIx	Phase_I	P38606	VATA_HUMAN			7	983	+			292					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.875C>A	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002114	0.93227	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;T	0.86627	-2.15;-1.37	5.88	5.88	0.94601	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94474	0.7687	10	0.87932	D	0	-8.485	20.2187	0.98312	0.0:1.0:0.0:0.0	.	292	P38606	VATA_HUMAN	Q	9;292;259	ENSP00000273398:P292Q;ENSP00000439874:P259Q	ENSP00000273398:P292Q	P	+	2	0	ATP6V1A	114990408	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.280000	0.78610	2.780000	0.95670	0.655000	0.94253	CCA		0.388	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		5	88	5	88	---	---	---	---
DZIP1L	199221	broad.mit.edu	37	3	137796416	137796416	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:137796416G>T	ENST00000327532.2	-	11	1709	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	449					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.P449P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCAGCAAAGTGGGGTTACGCC	0.532																																						ENST00000327532.2																			1	Substitution - coding silent(1)	p.P449P(1)	lung(1)	breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1345-1347)ccC>ccA		DAZ interacting zinc finger protein 1-like							206.0	165.0	179.0					3																	137796416		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137796416G>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1347C>A	3.37:g.137796416G>T			Somatic				DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	p.P449P	NM_173543.2	NP_775814.2	WXS	Illumina GAIIx	Phase_I	Q8IYY4	DZI1L_HUMAN			11	1709	-			449					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1347C>A	CCDS3096.1																																																																																				0.532	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		6	153	6	153	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158541297	158541297	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:158541297G>T	ENST00000264266.8	+	12	1220	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L	MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000415822.2_Silent_p.L435L			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	386					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACATCAGCTGGGAACTGCAT	0.418																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(1303-1305)ctG>ctT		major facilitator superfamily domain containing 1							293.0	259.0	270.0					3																	158541297		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158541297G>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1158G>T	3.37:g.158541297G>T			Somatic				MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000264266.8_Silent_p.L386L	p.L435L	NM_022736.2	NP_073573.2	WXS	Illumina GAIIx	Phase_I	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1446	+			386					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.1305G>T																																																																																					0.418	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		7	150	7	150	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		5	Substitution - Missense(5)	p.N345I(4)|p.N345S(1)	endometrium(2)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aAt>aTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	67.0					3																	178921552		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921552A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1034A>T	3.37:g.178921552A>T	ENSP00000263967:p.Asn345Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.N345I	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1191	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1034A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466842	0.84425	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82404	-0.0474	10	0.56958	D	0.05	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	I	345	ENSP00000263967:N345I	ENSP00000263967:N345I	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	105	4	105	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		13	Substitution - Missense(13)	p.E542V(8)|p.E542A(4)|p.E542G(1)	large_intestine(5)|endometrium(5)|breast(2)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)gAa>gCa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							57.0	57.0	57.0					3																	178936083		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936083A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1625A>C	3.37:g.178936083A>C	ENSP00000263967:p.Glu542Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.E542A	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1782	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1625A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842986	0.91197	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	L	0.49778	1.585	0.80722	D	1	D	0.58268	0.982	P	0.61070	0.883	T	0.65459	-0.6163	10	0.17832	T	0.49	-23.9623	16.1026	0.81194	1.0:0.0:0.0:0.0	.	542	P42336	PK3CA_HUMAN	A	542	ENSP00000263967:E542A	ENSP00000263967:E542A	E	+	2	0	PIK3CA	180418777	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	56	5	56	---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184059793	184059793	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184059793C>A	ENST00000310585.4	+	1	1536	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000450976.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	58						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCACCTCCCTGCACCTGTG	0.582																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(172-174)Ctg>Atg		family with sequence similarity 131, member A							236.0	196.0	210.0					3																	184059793		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184059793C>A	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.172C>A	3.37:g.184059793C>A	ENSP00000310135:p.Leu58Met		Somatic				FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron	p.L58M			WXS	Illumina GAIIx	Phase_I	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	1536	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		58					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.172C>A		.	.	.	.	.	.	.	.	.	.	c	16.44	3.124422	0.56613	.	.	ENSG00000175182	ENST00000310585	T	0.20069	2.1	4.01	-2.26	0.06867	.	0.696787	0.13277	N	0.400052	T	0.10895	0.0266	.	.	.	0.09310	N	1	P	0.40107	0.703	B	0.39419	0.299	T	0.14643	-1.0465	9	0.33940	T	0.23	.	1.0887	0.01659	0.1585:0.3798:0.1462:0.3155	.	58	Q6UXB0	F131A_HUMAN	M	58	ENSP00000310135:L58M	ENSP00000310135:L58M	L	+	1	2	FAM131A	185542487	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.008000	0.12788	-0.321000	0.08627	0.591000	0.81541	CTG		0.582	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		7	192	7	192	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184102330	184102330	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184102330G>T	ENST00000204604.1	+	13	1692	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	CHRD_ENST00000348986.3_Silent_p.V442V|CHRD_ENST00000450923.1_Silent_p.V482V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.V112V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	482	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGGCCGTGGGTATCTGCC	0.602																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1444-1446)gtG>gtT		chordin							102.0	112.0	109.0					3																	184102330		2203	4299	6502	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102330G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1446G>T	3.37:g.184102330G>T			Somatic				EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.V482V|CHRD_ENST00000545352.1_Silent_p.V112V|CHRD_ENST00000348986.3_Silent_p.V442V	p.V482V	NM_003741.2	NP_003732.2	WXS	Illumina GAIIx	Phase_I	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1692	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		482			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.1446G>T	CCDS3266.1																																																																																				0.602	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		7	213	7	213	---	---	---	---
HES1	3280	broad.mit.edu	37	3	193855647	193855647	+	Silent	SNP	C	C	A	rs144918671		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:193855647C>A	ENST00000232424.3	+	4	704	c.468C>A	c.(466-468)ccC>ccA	p.P156P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCTACCCCGGGCAGCCGC	0.731																																						ENST00000232424.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(466-468)ccC>ccA		hes family bHLH transcription factor 1		C		0,4404		0,0,2202	31.0	33.0	32.0		468	-6.1	0.9	3	dbSNP_134	32	1,8593		0,1,4296	no	coding-synonymous	HES1	NM_005524.3		0,1,6498	AA,AC,CC		0.0116,0.0,0.0077		156/281	193855647	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855647C>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.468C>A	3.37:g.193855647C>A			Somatic					p.P156P	NM_005524.3	NP_005515.1	WXS	Illumina GAIIx	Phase_I	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	704	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		156			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.468C>A	CCDS3305.1																																																																																				0.731	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			4	68	4	68	---	---	---	---
ADD1	118	broad.mit.edu	37	4	2929962	2929962	+	Silent	SNP	C	C	A	rs201859948	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:2929962C>A	ENST00000398129.1	+	14	1946	c.1926C>A	c.(1924-1926)ccC>ccA	p.P642P	ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000264758.7_Silent_p.P673P|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398123.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	642					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACTCTCCCCGATCTGTCCC	0.562																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000264758.7																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2017-2019)ccC>ccA		adducin 1 (alpha)							205.0	231.0	222.0					4																	2929962		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2929962C>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1926C>A	4.37:g.2929962C>A			Somatic				ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P642P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P	p.P673P	NM_014189.3	NP_054908.2	WXS	Illumina GAIIx	Phase_I	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2207	+			642					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.2019C>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125847	0.20959	.	.	ENSG00000087274	ENST00000514940;ENST00000536424	T;T	0.55760	2.04;0.5	4.7	-8.48	0.00935	.	0.157735	0.64402	D	0.000020	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	7	0.36615	T	0.2	-12.4756	2.1008	0.03679	0.2691:0.1794:0.0759:0.4756	.	.	.	.	Q	379;90	ENSP00000424143:P379Q;ENSP00000438069:P90Q	ENSP00000424143:P379Q	P	+	2	0	ADD1	2899760	0.015000	0.18098	0.220000	0.23810	0.783000	0.44284	-1.038000	0.03553	-1.388000	0.02092	-1.083000	0.02208	CCG		0.562	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		9	317	9	317	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38016162	38016162	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:38016162G>T	ENST00000261439.4	+	3	805	c.450G>T	c.(448-450)gcG>gcT	p.A150A	TBC1D1_ENST00000508802.1_Silent_p.A150A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	150					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.A150A(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCGTCAGGCGGGGAAGATCG	0.597																																						ENST00000261439.4																			1	Substitution - coding silent(1)	p.A150A(1)	lung(1)	NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(448-450)gcG>gcT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							77.0	77.0	77.0					4																	38016162		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016162G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.450G>T	4.37:g.38016162G>T			Somatic				TBC1D1_ENST00000508802.1_Silent_p.A150A	p.A150A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	WXS	Illumina GAIIx	Phase_I	Q86TI0	TBCD1_HUMAN			3	805	+			150					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.450G>T	CCDS33972.1																																																																																				0.597	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		5	148	5	148	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:69520828G>T	ENST00000338206.5	-	4	1087	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGGTCATTCTGGGGTAACCAC	0.358																																						ENST00000338206.5																			0											c.(1078-1080)Cag>Aag		UDP glucuronosyltransferase 2 family, polypeptide B15							161.0	163.0	162.0					4																	69520828		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69520828G>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1078C>A	4.37:g.69520828G>T	ENSP00000341045:p.Gln360Lys		Somatic					p.Q360K	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	P54855	UDB15_HUMAN			4	1087	-			360					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1078C>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185913	0.57909	.	.	ENSG00000196620	ENST00000338206	T	0.74526	-0.85	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000002	D	0.88976	0.6584	H	0.97103	3.94	0.30945	N	0.725373	D	0.71674	0.998	D	0.71414	0.973	D	0.87736	0.2582	10	0.87932	D	0	.	10.831	0.46661	0.0:0.0:1.0:0.0	.	360	P54855	UDB15_HUMAN	K	360	ENSP00000341045:Q360K	ENSP00000341045:Q360K	Q	-	1	0	UGT2B15	69203423	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	8.584000	0.90798	1.421000	0.47157	0.455000	0.32223	CAG		0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		7	253	7	253	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77675725	77675725	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:77675725C>A	ENST00000296043.6	+	7	5042	c.4089C>A	c.(4087-4089)ccC>ccA	p.P1363P	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1363					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCCATTCCCTCTGGCTACT	0.642																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4087-4089)ccC>ccA		shroom family member 3							64.0	62.0	63.0					4																	77675725		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675725C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4089C>A	4.37:g.77675725C>A			Somatic					p.P1363P	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5042	+			1363					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4089C>A	CCDS3579.2																																																																																				0.642	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	59	5	59	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78647404	78647404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:78647404C>A	ENST00000504123.1	-	11	1502	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	458	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGATTCTCCCTTCTGAGCTT	0.418																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1372-1374)Ggg>Tgg		CCR4-NOT transcription complex, subunit 6-like							204.0	188.0	193.0					4																	78647404		1854	4103	5957	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647404C>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1372G>T	4.37:g.78647404C>A	ENSP00000424896:p.Gly458Trp		Somatic				CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W	p.G458W			WXS	Illumina GAIIx	Phase_I	Q96LI5	CNO6L_HUMAN			11	1502	-			458					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1372G>T		.	.	.	.	.	.	.	.	.	.	C	16.06	3.014431	0.54468	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.80738	-1.41;-1.41;-1.41;0.84	5.88	5.88	0.94601	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	L	0.38175	1.15	0.80722	D	1	B;D	0.67145	0.02;0.996	B;D	0.69654	0.052;0.965	D	0.85170	0.0997	10	0.49607	T	0.09	-2.5545	20.2228	0.98330	0.0:1.0:0.0:0.0	.	431;458	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	W	458;458;465;233	ENSP00000424896:G458W;ENSP00000264903:G458W;ENSP00000425571:G465W;ENSP00000426320:G233W	ENSP00000264903:G458W	G	-	1	0	CNOT6L	78866428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.857000	0.62939	2.789000	0.95967	0.655000	0.94253	GGG		0.418	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			7	314	7	314	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000265517.5	+	2	388	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000457717.1_Missense_Mutation_p.N62S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ATTTCCTCCAACGTGGATGTG	0.463																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(184-186)aAc>aGc		microsomal triglyceride transfer protein	Hesperetin(DB01094)						173.0	142.0	153.0					4																	100503185		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503185A>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.185A>G	4.37:g.100503185A>G	ENSP00000265517:p.Asn62Ser		Somatic				MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	p.N62S	NM_000253.2	NP_000244.2	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	441	+			62			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.185A>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	0.967	-0.701365	0.03255	.	.	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000422897;ENST00000538053	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.76	-4.4	0.03600	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.644830	0.16861	N	0.196524	T	0.26412	0.0645	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14012	0.009;0.001;0.0	B;B;B	0.14578	0.011;0.005;0.005	T	0.07539	-1.0767	10	0.33940	T	0.23	-11.5377	14.1229	0.65201	0.4557:0.0:0.5443:0.0	.	89;62;62	E9PBP6;P55157;Q6P5T3	.;MTP_HUMAN;.	S	72;89;62;62;62;62	ENSP00000426755:N72S;ENSP00000427679:N89S;ENSP00000400821:N62S;ENSP00000265517:N62S;ENSP00000407350:N62S	ENSP00000265517:N62S	N	+	2	0	MTTP	100722208	0.597000	0.26874	0.002000	0.10522	0.003000	0.03518	0.662000	0.25038	-1.051000	0.03226	-0.912000	0.02778	AAC		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			32	103	32	103	---	---	---	---
SLC9B2	133308	broad.mit.edu	37	4	103979095	103979095	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:103979095C>A	ENST00000394785.3	-	4	936	c.305G>T	c.(304-306)tGg>tTg	p.W102L	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	102					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AGTAATTGACCAAACTACAGC	0.363																																						ENST00000394785.3																			0											c.(304-306)tGg>tTg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							133.0	139.0	137.0					4																	103979095		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103979095C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.305G>T	4.37:g.103979095C>A	ENSP00000378265:p.Trp102Leu		Somatic				SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	p.W102L	NM_178833.4	NP_849155.2	WXS	Illumina GAIIx	Phase_I	Q86UD5	NHDC2_HUMAN			4	936	-			102					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.305G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925954	0.73327	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T;T	0.27256	1.69;1.71;1.68;1.69	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.74881	2.28	0.80722	D	1	D	0.59767	0.986	P	0.48304	0.573	T	0.41124	-0.9526	10	0.52906	T	0.07	-3.0004	19.1728	0.93585	0.0:1.0:0.0:0.0	.	102	Q86UD5	SL9B2_HUMAN	L	102;2;102;102;102	ENSP00000354574:W102L;ENSP00000421943:W2L;ENSP00000345241:W102L;ENSP00000378265:W102L	ENSP00000345241:W102L	W	-	2	0	SLC9B2	104198544	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	5.129000	0.64739	2.587000	0.87381	0.591000	0.81541	TGG		0.363	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		7	221	7	221	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126319956	126319956	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:126319956G>T	ENST00000394329.3	+	2	5206	c.5193G>T	c.(5191-5193)caG>caT	p.Q1731H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1731	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACACTTCAGGATATCAATG	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5191-5193)caG>caT		FAT atypical cadherin 4							178.0	166.0	170.0					4																	126319956		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126319956G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5193G>T	4.37:g.126319956G>T	ENSP00000377862:p.Gln1731His		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	p.Q1731H	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			2	5206	+			1731			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5193G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684136	0.68157	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	4.65;-1.0	5.81	2.2	0.27929	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32703	U	0.005754	T	0.78419	0.4280	L	0.46741	1.465	0.41455	D	0.988002	D;D	0.69078	0.997;0.997	D;P	0.77004	0.989;0.862	T	0.72184	-0.4367	10	0.26408	T	0.33	.	10.2511	0.43370	0.4526:0.0:0.5474:0.0	.	29;1731	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	1731;29	ENSP00000377862:Q1731H;ENSP00000335169:Q29H	ENSP00000335169:Q29H	Q	+	3	2	FAT4	126539406	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.506000	0.22658	0.094000	0.17404	0.655000	0.94253	CAG		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	126	6	126	---	---	---	---
CPE	1363	broad.mit.edu	37	4	166405652	166405652	+	Missense_Mutation	SNP	C	C	A	rs374345764		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:166405652C>A	ENST00000402744.4	+	5	1149	c.869C>A	c.(868-870)cCg>cAg	p.P290Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.P290Q(2)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTTTCAACCCGGCCATGTCT	0.512																																						ENST00000402744.4																			2	Substitution - Missense(2)	p.P290Q(2)	lung(2)	endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(868-870)cCg>cAg		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						280.0	272.0	275.0					4																	166405652		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405652C>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.869C>A	4.37:g.166405652C>A	ENSP00000386104:p.Pro290Gln		Somatic					p.P290Q	NM_001873.2	NP_001864.1	WXS	Illumina GAIIx	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1149	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	290					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.869C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460400	0.63401	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10099	2.91	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.74258	2.255	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	T	0.02721	-1.1119	10	0.13853	T	0.58	-21.6453	20.1284	0.97992	0.0:1.0:0.0:0.0	.	290	P16870	CBPE_HUMAN	Q	290;254	ENSP00000386104:P290Q	ENSP00000261510:P254Q	P	+	2	0	CPE	166625102	1.000000	0.71417	0.970000	0.41538	0.367000	0.29736	7.228000	0.78079	2.829000	0.97493	0.650000	0.86243	CCG		0.512	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		9	437	9	437	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613387	170613387	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:170613387C>A	ENST00000513761.1	+	7	1411	c.852C>A	c.(850-852)ccC>ccA	p.P284P	CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P|CLCN3_ENST00000360642.3_Silent_p.P284P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	284					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAGAAGGTCCCCTGGTACATG	0.403																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(850-852)ccC>ccA		chloride channel, voltage-sensitive 3							195.0	188.0	191.0					4																	170613387		2203	4300	6503	SO:0001819	synonymous_variant	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170613387C>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.852C>A	4.37:g.170613387C>A			Somatic				CLCN3_ENST00000360642.3_Silent_p.P284P|CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P	p.P284P	NM_001829.3	NP_001820.2	WXS	Illumina GAIIx	Phase_I	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	7	1411	+		Prostate(90;0.00601)|Renal(120;0.0183)	284					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.852C>A	CCDS34101.1																																																																																				0.403	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			8	215	8	215	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	825296	825296	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:825296C>A	ENST00000283441.8	-	8	1389	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	336						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTCGAATCCCCATCCTGGTTT	0.547																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(1006-1008)Ggg>Tgg		zinc finger, DHHC-type containing 11							190.0	136.0	154.0					5																	825296		2203	4296	6499	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825296C>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1006G>T	5.37:g.825296C>A	ENSP00000283441:p.Gly336Trp		Somatic				ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	p.G336W	NM_024786.2	NP_079062.1	WXS	Illumina GAIIx	Phase_I	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		8	1389	-			336					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1006G>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	3.835	-0.034940	0.07543	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.30714	1.52;1.52	0.131	-0.261	0.12963	.	.	.	.	.	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.20739	-1.0266	8	0.66056	D	0.02	.	.	.	.	.	336	Q9H8X9	ZDH11_HUMAN	W	336	ENSP00000397719:G336W;ENSP00000283441:G336W	ENSP00000283441:G336W	G	-	1	0	ZDHHC11	878296	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.325000	0.01115	-1.313000	0.02303	-1.326000	0.01283	GGG		0.547	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	135	7	135	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090293	32090293	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:32090293C>A	ENST00000438447.1	+	20	7127	c.6739C>A	c.(6739-6741)Cgg>Agg	p.R2247R	PDZD2_ENST00000282493.3_Silent_p.R2247R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2247			R -> Q (in dbSNP:rs10066063).		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						GGGTCGCTCTCGGGACAGCCA	0.602																																						ENST00000438447.1																			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.(6739-6741)Cgg>Agg		PDZ domain containing 2							132.0	142.0	139.0					5																	32090293		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090293C>A	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.6739C>A	5.37:g.32090293C>A			Somatic				PDZD2_ENST00000282493.3_Silent_p.R2247R	p.R2247R			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	7127	+			2247		R -> Q (in dbSNP:rs10066063).			Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6739C>A	CCDS34137.1																																																																																				0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	261	6	261	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42719419	42719419	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:42719419C>A	ENST00000230882.4	+	10	2000	c.1810C>A	c.(1810-1812)Cca>Aca	p.P604T	GHR_ENST00000357703.3_Missense_Mutation_p.P582T|GHR_ENST00000537449.1_Missense_Mutation_p.P417T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	604					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTACAGTCCCCACAGGGCCT	0.502																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1810-1812)Cca>Aca		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						95.0	86.0	89.0					5																	42719419		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42719419C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1810C>A	5.37:g.42719419C>A	ENSP00000230882:p.Pro604Thr		Somatic				GHR_ENST00000537449.1_Missense_Mutation_p.P417T|GHR_ENST00000357703.3_Missense_Mutation_p.P582T	p.P604T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	WXS	Illumina GAIIx	Phase_I	P10912	GHR_HUMAN			10	2000	+		Myeloproliferative disorder(839;0.00878)	604					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1810C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174793	0.57692	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36699	1.24;1.24;1.24	5.88	5.01	0.66863	.	0.145914	0.64402	D	0.000007	T	0.70002	0.3174	H	0.94808	3.585	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.78984	-0.1988	10	0.56958	D	0.05	-9.7302	14.7608	0.69604	0.0:0.931:0.0:0.069	.	604	P10912	GHR_HUMAN	T	604;582;417	ENSP00000230882:P604T;ENSP00000350335:P582T;ENSP00000442206:P417T	ENSP00000230882:P604T	P	+	1	0	GHR	42755176	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.392000	0.59659	1.489000	0.48450	0.591000	0.81541	CCA		0.502	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		5	55	5	55	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70754459	70754459	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:70754459C>A	ENST00000358731.4	+	2	529	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	89	Interaction with ZBTB43.|Ser-rich.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTTCCTCTACTGTTTCA	0.363																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(265-267)tCt>tAt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							146.0	144.0	144.0					5																	70754459		1908	4126	6034	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70754459C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.266C>A	5.37:g.70754459C>A	ENSP00000351575:p.Ser89Tyr		Somatic				BDP1_ENST00000380675.2_5'UTR	p.S89Y	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	2	529	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	89			Interaction with ZBTB43.|Ser-rich.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.266C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024590	0.19433	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.24723	1.84	5.28	3.47	0.39725	.	0.797309	0.11722	N	0.535811	T	0.29620	0.0739	L	0.60455	1.87	0.18873	N	0.999989	B;P;P	0.47253	0.207;0.892;0.892	B;P;P	0.47251	0.155;0.518;0.542	T	0.19516	-1.0303	10	0.59425	D	0.04	.	4.5211	0.11959	0.1578:0.6056:0.1527:0.0839	.	89;89;89	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	89	ENSP00000351575:S89Y	ENSP00000351575:S89Y	S	+	2	0	BDP1	70790215	0.000000	0.05858	0.901000	0.35422	0.138000	0.21146	0.228000	0.17814	0.701000	0.31803	-0.291000	0.09656	TCT		0.363	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		7	147	7	147	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79855162	79855162	+	Missense_Mutation	SNP	G	G	T	rs199640651		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:79855162G>T	ENST00000338682.3	-	5	1349	c.677C>A	c.(676-678)cCa>cAa	p.P226Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGGAACCTGGGTCCCAGGT	0.527																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(676-678)cCa>cAa		ankyrin repeat domain 34B							59.0	62.0	61.0					5																	79855162		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855162G>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.677C>A	5.37:g.79855162G>T	ENSP00000339802:p.Pro226Gln		Somatic					p.P226Q	NM_001004441.2	NP_001004441.2	WXS	Illumina GAIIx	Phase_I	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1349	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	226					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.677C>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	4.029	0.002940	0.07866	.	.	ENSG00000189127	ENST00000338682	T	0.22743	1.94	5.85	4.07	0.47477	.	0.082419	0.47455	D	0.000224	T	0.22666	0.0547	M	0.70275	2.135	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.18053	-1.0349	10	0.26408	T	0.33	-2.1422	9.8601	0.41109	0.0725:0.2636:0.6639:0.0	.	226	A5PLL1	AN34B_HUMAN	Q	226	ENSP00000339802:P226Q	ENSP00000339802:P226Q	P	-	2	0	ANKRD34B	79890918	0.224000	0.23674	0.004000	0.12327	0.094000	0.18550	2.037000	0.41174	0.808000	0.34231	0.655000	0.94253	CCA		0.527	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		6	60	6	60	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722222	137722222	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:137722222C>A	ENST00000314358.5	+	7	1492	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	431					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCTCCACCCCAAACACAGTG	0.572																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1291-1293)cCa>cAa		lysine (K)-specific demethylase 3B							66.0	74.0	71.0					5																	137722222		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137722222C>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1292C>A	5.37:g.137722222C>A	ENSP00000326563:p.Pro431Gln		Somatic				KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q	p.P431Q	NM_016604.3	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			7	1492	+			431					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1292C>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765572	0.69878	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.79554	-1.28;-0.83	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.86361	0.1717	10	0.62326	D	0.03	-32.1514	19.3478	0.94372	0.0:1.0:0.0:0.0	.	87;431	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	431;221;87	ENSP00000326563:P431Q;ENSP00000378335:P87Q	ENSP00000326563:P431Q	P	+	2	0	KDM3B	137750121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.359000	0.66074	2.572000	0.86782	0.655000	0.94253	CCA		0.572	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	93	7	93	---	---	---	---
CCDC69	26112	broad.mit.edu	37	5	150565077	150565077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:150565077C>A	ENST00000355417.2	-	7	695	c.521G>T	c.(520-522)tGg>tTg	p.W174L	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	174										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTGCTCCCAGAACTGGCT	0.532																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(520-522)tGg>tTg		coiled-coil domain containing 69							149.0	143.0	145.0					5																	150565077		2203	4300	6503	SO:0001583	missense	26112							g.chr5:150565077C>A		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.521G>T	5.37:g.150565077C>A	ENSP00000347586:p.Trp174Leu		Somatic				CCDC69_ENST00000521308.1_5'UTR	p.W174L	NM_015621.2	NP_056436.2	WXS	Illumina GAIIx	Phase_I	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	695	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	174					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.521G>T	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648405	0.47258	.	.	ENSG00000198624	ENST00000355417	T	0.09538	2.97	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000017	T	0.15435	0.0372	N	0.17474	0.49	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.02437	-1.1159	10	0.02654	T	1	-14.8751	16.2781	0.82656	0.0:1.0:0.0:0.0	.	174	A6NI79	CCD69_HUMAN	L	174	ENSP00000347586:W174L	ENSP00000347586:W174L	W	-	2	0	CCDC69	150545270	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.751000	0.55165	2.433000	0.82419	0.462000	0.41574	TGG		0.532	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		6	154	6	154	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169697882	169697882	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:169697882C>A	ENST00000046794.5	-	7	979	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	122					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCATCCTCCCCATCCTGGTCA	0.547																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(364-366)Ggg>Tgg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							62.0	74.0	70.0					5																	169697882		2117	4228	6345	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697882C>A		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.364G>T	5.37:g.169697882C>A	ENSP00000046794:p.Gly122Trp		Somatic					p.G122W	NM_005565.3	NP_005556.1	WXS	Illumina GAIIx	Phase_I	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	979	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	122					A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.364G>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024381	0.54683	.	.	ENSG00000043462	ENST00000046794	T	0.47177	0.85	5.4	3.63	0.41609	.	0.887861	0.09950	N	0.734746	T	0.56001	0.1956	L	0.54323	1.7	0.18873	N	0.999988	D	0.67145	0.996	P	0.56434	0.798	T	0.39035	-0.9633	9	.	.	.	-0.6741	8.5636	0.33525	0.0:0.8233:0.0:0.1767	.	122	Q13094	LCP2_HUMAN	W	122	ENSP00000046794:G122W	.	G	-	1	0	LCP2	169630460	0.001000	0.12720	0.001000	0.08648	0.757000	0.42996	1.166000	0.31834	0.761000	0.33130	0.655000	0.94253	GGG		0.547	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		4	38	4	38	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397178	397178	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:397178C>A	ENST00000380956.4	+	5	689	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	188					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGCCACACCCGGAAATCCCG	0.562			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(562-564)cCg>cAg		interferon regulatory factor 4							110.0	114.0	113.0					6																	397178		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397178C>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.563C>A	6.37:g.397178C>A	ENSP00000370343:p.Pro188Gln		Somatic				IRF4_ENST00000495137.1_3'UTR	p.P188Q	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	689	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	188					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.563C>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504432	0.44558	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97209	-4.29	5.52	5.52	0.82312	.	0.564094	0.17831	N	0.160559	D	0.96491	0.8855	L	0.46157	1.445	0.58432	D	0.99999	B;B;B;B	0.29955	0.022;0.023;0.263;0.008	B;B;P;B	0.50617	0.036;0.021;0.646;0.015	D	0.94542	0.7746	10	0.12766	T	0.61	-4.053	19.4533	0.94876	0.0:1.0:0.0:0.0	.	188;218;187;188	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	Q	188;217	ENSP00000370343:P188Q	ENSP00000370343:P188Q	P	+	2	0	IRF4	342178	1.000000	0.71417	0.311000	0.25182	0.325000	0.28411	6.392000	0.73213	2.604000	0.88044	0.555000	0.69702	CCG		0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	163	6	163	---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24667063	24667063	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:24667063C>A	ENST00000378198.4	-	1	198	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.G40W			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	10					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GCCTCCCTCCCGCCCTCCAGG	0.667								Direct reversal of damage																														ENST00000378198.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(28-30)Ggg>Tgg	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							112.0	129.0	123.0					6																	24667063		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24667063C>A	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.28G>T	6.37:g.24667063C>A	ENSP00000367440:p.Gly10Trp		Somatic				TDP2_ENST00000545995.1_Missense_Mutation_p.G40W	p.G10W			WXS	Illumina GAIIx	Phase_I	O95551	TYDP2_HUMAN			1	198	-			10					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.28G>T	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594878	0.46318	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.25250	1.88;1.81	2.91	-3.36	0.04913	.	2.222910	0.01914	N	0.040031	T	0.07954	0.0199	L	0.53249	1.67	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.15870	0.014;0.003	T	0.34850	-0.9812	10	0.72032	D	0.01	-11.0737	0.49	0.00562	0.4034:0.2166:0.1749:0.2051	.	40;10	O95551-2;O95551	.;TYDP2_HUMAN	W	10;40;10	ENSP00000367440:G10W;ENSP00000437637:G40W	ENSP00000367440:G10W	G	-	1	0	TDP2	24775042	0.020000	0.18652	0.000000	0.03702	0.043000	0.13939	-0.001000	0.12947	-0.504000	0.06577	0.644000	0.83932	GGG		0.667	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			5	217	5	217	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31124678	31124678	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31124678G>T	ENST00000376266.5	-	3	182	c.60C>A	c.(58-60)ccC>ccA	p.P20P	CCHCR1_ENST00000451521.2_Intron|TCF19_ENST00000376255.4_5'Flank|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.P109P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	20				P -> A (in Ref. 7; BAA81890). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGAAAGGGGCCGAGCTT	0.552																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(325-327)ccC>ccA		coiled-coil alpha-helical rod protein 1							61.0	71.0	67.0					6																	31124678		1509	2709	4218	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31124678G>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.60C>A	6.37:g.31124678G>T			Somatic				CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron	p.P109P	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			3	515	-			20		R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076).			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.327C>A	CCDS4695.1																																																																																				0.552	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		6	79	6	79	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31833153	31833153	+	Missense_Mutation	SNP	C	C	A	rs547352490	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31833153C>A	ENST00000229729.6	-	17	1719	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.G491W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	567					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAATTCTTCCCGTAGATGGCG	0.547																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1471-1473)Ggg>Tgg		solute carrier family 44, member 4	Choline(DB00122)						127.0	130.0	129.0					6																	31833153		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833153C>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1699G>T	6.37:g.31833153C>A	ENSP00000229729:p.Gly567Trp		Somatic				SLC44A4_ENST00000229729.6_Missense_Mutation_p.G567W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	p.G491W	NM_001178045.1	NP_001171516.1	WXS	Illumina GAIIx	Phase_I	Q53GD3	CTL4_HUMAN			17	1767	-			567					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1471G>T	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698955	0.88830	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.49139	0.79;0.79;0.79	5.25	5.25	0.73442	.	0.114407	0.64402	D	0.000013	T	0.75729	0.3889	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82942	-0.0207	10	0.87932	D	0	-22.7152	17.7732	0.88499	0.0:1.0:0.0:0.0	.	567	Q53GD3	CTL4_HUMAN	W	567;525;491	ENSP00000229729:G567W;ENSP00000364712:G525W;ENSP00000444109:G491W	ENSP00000229729:G567W	G	-	1	0	SLC44A4	31941132	1.000000	0.71417	0.981000	0.43875	0.976000	0.68499	5.612000	0.67681	2.733000	0.93635	0.561000	0.74099	GGG		0.547	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			6	172	6	172	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31929348	31929348	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31929348C>A	ENST00000375394.2	+	9	927	c.814C>A	c.(814-816)Cca>Aca	p.P272T	NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T|NELFE_ENST00000444811.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	272					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGTATCCACCCCAGAGGCCCC	0.567																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(814-816)Cca>Aca		superkiller viralicidic activity 2-like (S. cerevisiae)							97.0	111.0	106.0					6																	31929348		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31929348C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.814C>A	6.37:g.31929348C>A	ENSP00000364543:p.Pro272Thr		Somatic				SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T	p.P272T	NM_006929.4	NP_008860.4	WXS	Illumina GAIIx	Phase_I	Q15477	SKIV2_HUMAN			9	927	+			272					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.814C>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574654	0.28092	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.53423	0.62;0.62	4.82	3.0	0.34707	.	0.518774	0.19935	N	0.102773	T	0.14830	0.0358	L	0.29908	0.895	0.44447	D	0.997378	B	0.10296	0.003	B	0.11329	0.006	T	0.06844	-1.0804	10	0.15499	T	0.54	0.0071	9.1331	0.36857	0.0:0.7695:0.148:0.0825	.	272	Q15477	SKIV2_HUMAN	T	272;114;79	ENSP00000364543:P272T;ENSP00000442645:P79T	ENSP00000364543:P272T	P	+	1	0	SKIV2L	32037327	0.680000	0.27605	0.007000	0.13788	0.044000	0.14063	1.300000	0.33436	0.619000	0.30197	0.655000	0.94253	CCA		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			6	111	6	111	---	---	---	---
CYP21A2	1589	broad.mit.edu	37	6	32007917	32007917	+	Missense_Mutation	SNP	G	G	T	rs201552310		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:32007917G>T	ENST00000418967.2	+	7	1032	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	291			G -> D (in AH3; salt wasting form; less then 1% activity). {ECO:0000269|PubMed:20080860}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CCTCCTGATCGGTGGCACTGA	0.607																																					Melanoma(174;1669 1998 3915 34700 46447)	ENST00000418967.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11	GRCh37	CM031955|CM920231|CM990464	CYP21A2	M		c.(874-876)Ggt>Tgt		cytochrome P450, family 21, subfamily A, polypeptide 2							277.0	267.0	270.0					6																	32007917		1510	2709	4219	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32007917G>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.874G>T	6.37:g.32007917G>T	ENSP00000408860:p.Gly292Cys		Somatic				CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	p.G292C	NM_000500.7	NP_000491.4	WXS	Illumina GAIIx	Phase_I	P08686	CP21A_HUMAN			7	1032	+			291		G -> D (in AH3; salt wasting form; less then 1% activity).			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.874G>T	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.084270	0.55861	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.80653	-1.4;-1.4	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000136	D	0.89787	0.6816	M	0.90145	3.09	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91550	0.5256	10	0.87932	D	0	.	14.0516	0.64739	0.0:0.0:1.0:0.0	.	262;292	Q5ST44;Q16874	.;.	C	292;262	ENSP00000408860:G292C;ENSP00000415043:G262C	ENSP00000408860:G292C	G	+	1	0	CYP21A2	32115896	1.000000	0.71417	0.257000	0.24404	0.269000	0.26545	5.993000	0.70616	2.463000	0.83235	0.556000	0.70494	GGT		0.607	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		7	329	7	329	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42933787	42933787	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:42933787C>A	ENST00000304611.8	-	12	2426	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCCCGCACATTCTC	0.577																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2356-2358)cGg>cTg		peroxisomal biogenesis factor 6							189.0	169.0	176.0					6																	42933787		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933787C>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2357G>T	6.37:g.42933787C>A	ENSP00000303511:p.Arg786Leu		Somatic				PEX6_ENST00000244546.4_Intron	p.R786L	NM_000287.3	NP_000278.3	WXS	Illumina GAIIx	Phase_I	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		12	2426	-			786					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2357G>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457709	0.96240	.	.	ENSG00000124587	ENST00000304611	D	0.94232	-3.38	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.051557	0.85682	D	0.000000	D	0.97742	0.9259	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-20.7535	18.9872	0.92777	0.0:1.0:0.0:0.0	.	786	Q13608	PEX6_HUMAN	L	786	ENSP00000303511:R786L	ENSP00000303511:R786L	R	-	2	0	PEX6	43041765	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	7.761000	0.85260	2.564000	0.86499	0.563000	0.77884	CGG		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		7	186	7	186	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43166474	43166474	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43166474C>A	ENST00000252050.4	+	12	3015	c.2931C>A	c.(2929-2931)ccC>ccA	p.P977P	CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	977					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGGCAGCCCCGGAGGTGCCG	0.642																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2929-2931)ccC>ccA		cullin 9							77.0	82.0	81.0					6																	43166474		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43166474C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2931C>A	6.37:g.43166474C>A			Somatic				CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	p.P977P	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			12	3015	+			977					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2931C>A	CCDS4890.1																																																																																				0.642	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		5	162	5	162	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43174217	43174217	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43174217C>A	ENST00000252050.4	+	26	5265	c.5181C>A	c.(5179-5181)gcC>gcA	p.A1727A	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000354495.3_Silent_p.A1617A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGATGCCCTTGACCGTT	0.542																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5179-5181)gcC>gcA		cullin 9							106.0	102.0	103.0					6																	43174217		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43174217C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5181C>A	6.37:g.43174217C>A			Somatic				CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.A1617A	p.A1727A	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			26	5265	+			1727					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.5181C>A	CCDS4890.1																																																																																				0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		6	74	6	74	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43316169	43316169	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43316169G>T	ENST00000361428.2	-	6	3042	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	989					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q989K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGACTTCTGGGATTTATCG	0.448																																						ENST00000361428.2																			1	Substitution - Missense(1)	p.Q989K(1)	lung(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2965-2967)Cag>Aag		zinc finger protein 318							230.0	222.0	224.0					6																	43316169		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316169G>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2965C>A	6.37:g.43316169G>T	ENSP00000354964:p.Gln989Lys		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	p.Q989K	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3042	-			989					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2965C>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771885	0.31320	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.28255	1.62;2.81	6.03	5.14	0.70334	.	0.276435	0.34411	N	0.003983	T	0.05410	0.0143	N	0.14661	0.345	0.23180	N	0.998163	P	0.36837	0.571	B	0.30855	0.121	T	0.30592	-0.9973	10	0.06494	T	0.89	-2.4148	15.3993	0.74827	0.0:0.3144:0.6856:0.0	.	989	Q5VUA4	ZN318_HUMAN	K	989	ENSP00000323032:Q989K;ENSP00000354964:Q989K	ENSP00000323032:Q989K	Q	-	1	0	ZNF318	43424147	0.866000	0.29940	0.844000	0.33320	0.764000	0.43329	1.535000	0.36061	1.450000	0.47717	0.655000	0.94253	CAG		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	248	7	248	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1897-1899)Gga>Tga		tumor necrosis factor receptor superfamily, member 21							106.0	118.0	114.0					6																	47200572		2203	4300	6503	SO:0001587	stop_gained	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200572C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1897G>T	6.37:g.47200572C>A	ENSP00000296861:p.Gly633*		Somatic					p.G633*	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2290	-			633					B2RDI9|Q0D2P5|Q96D86	Nonsense_Mutation	SNP	ENST00000296861.2	37	c.1897G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	42	9.340086	0.99142	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	.	.	.	5.95	5.95	0.96441	.	0.150367	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	.	.	.	X	633;322	.	ENSP00000296861:G633X	G	-	1	0	TNFRSF21	47308531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGA		0.478	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		45	120	45	120	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83754301	83754301	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:83754301G>T	ENST00000369747.3	-	4	565	c.443C>A	c.(442-444)cCc>cAc	p.P148H		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	148					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										ATTAGCAAAGGGGTCAGGATG	0.453																																						ENST00000369747.3																			0											c.(442-444)cCc>cAc		ubiquitin protein ligase E3D							139.0	155.0	149.0					6																	83754301		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83754301G>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.443C>A	6.37:g.83754301G>T	ENSP00000358762:p.Pro148His		Somatic					p.P148H	NM_198920.1	NP_944602.1	WXS	Illumina GAIIx	Phase_I	Q7Z6J8	UB2CB_HUMAN			4	565	-			148					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.443C>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095555	0.76870	.	.	ENSG00000118420	ENST00000369747	T	0.30981	1.51	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.38993	-0.9635	10	0.41790	T	0.15	-18.6363	19.6936	0.96012	0.0:0.0:1.0:0.0	.	148;148	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	H	148	ENSP00000358762:P148H	ENSP00000358762:P148H	P	-	2	0	UBE2CBP	83811020	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	7.382000	0.79729	2.665000	0.90641	0.655000	0.94253	CCC		0.453	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		8	257	8	257	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.5	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	275	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.5																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(823-825)Tac>Cac		cytochrome b5 reductase 4							103.0	103.0	103.0					6																	84644322		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84644322T>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.823T>C	6.37:g.84644322T>C	ENSP00000358695:p.Tyr275His		Somatic				CYB5R4_ENST00000479164.1_3'UTR	p.Y275H	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	11	963	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)				FAD-binding FR-type.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.823T>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203214	0.79127	.	.	ENSG00000065615	ENST00000369681	D	0.93906	-3.31	5.94	5.94	0.96194	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.054564	0.85682	D	0.000000	D	0.95319	0.8481	M	0.81112	2.525	0.80722	D	1	P	0.46578	0.88	P	0.55545	0.778	D	0.95874	0.8893	10	0.87932	D	0	.	16.0669	0.80891	0.0:0.0:0.0:1.0	.	275	Q7L1T6	NB5R4_HUMAN	H	275	ENSP00000358695:Y275H	ENSP00000358695:Y275H	Y	+	1	0	CYB5R4	84701041	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.194000	0.65125	2.282000	0.76494	0.528000	0.53228	TAC		0.358	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		15	20	15	20	---	---	---	---
NUS1	116150	broad.mit.edu	37	6	118015306	118015306	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:118015306C>A	ENST00000368494.3	+	3	823	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	218					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAAAGAGACCCACAGATTTGG	0.368																																						ENST00000368494.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8						c.(652-654)ccC>ccA		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							102.0	104.0	103.0					6																	118015306		2203	4300	6503	SO:0001819	synonymous_variant	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118015306C>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.654C>A	6.37:g.118015306C>A			Somatic					p.P218P	NM_138459.3	NP_612468.1	WXS	Illumina GAIIx	Phase_I	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	3	823	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	218					B2RWQ4|O00251	Silent	SNP	ENST00000368494.3	37	c.654C>A	CCDS5118.1																																																																																				0.368	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		5	102	5	102	---	---	---	---
HEY2	23493	broad.mit.edu	37	6	126080848	126080848	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:126080848C>A	ENST00000368364.3	+	5	1111	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCATCAGCCCGCCCTTGTCA	0.597																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(913-915)cCg>cAg		hes-related family bHLH transcription factor with YRPW motif 2							62.0	72.0	68.0					6																	126080848		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080848C>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.914C>A	6.37:g.126080848C>A	ENSP00000357348:p.Pro305Gln		Somatic				HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	p.P305Q	NM_012259.2	NP_036391.1	WXS	Illumina GAIIx	Phase_I	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1111	+			305						Missense_Mutation	SNP	ENST00000368364.3	37	c.914C>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475587	0.63737	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59638	0.27;0.25	5.43	4.56	0.56223	.	0.393153	0.25427	N	0.030745	T	0.39384	0.1076	L	0.34521	1.04	0.40531	D	0.98093	P	0.46621	0.881	P	0.48524	0.58	T	0.20706	-1.0267	10	0.22706	T	0.39	-35.7157	14.0858	0.64954	0.0:0.9273:0.0:0.0727	.	305	Q9UBP5	HEY2_HUMAN	Q	259;305	ENSP00000357349:P259Q;ENSP00000357348:P305Q	ENSP00000357348:P305Q	P	+	2	0	HEY2	126122541	1.000000	0.71417	0.735000	0.30896	0.903000	0.53119	7.283000	0.78640	1.280000	0.44463	0.561000	0.74099	CCG		0.597	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			6	189	6	189	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966571	132966571	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:132966571C>A	ENST00000275216.1	-	1	571	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	191					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	GGTCAGTACCCCAGATATTTT	0.348																																						ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(571-573)gGg>gTg		trace amine associated receptor 1	Amphetamine(DB00182)						79.0	83.0	81.0					6																	132966571		2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132966571C>A	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.572G>T	6.37:g.132966571C>A	ENSP00000275216:p.Gly191Val		Somatic					p.G191V	NM_138327.1	NP_612200.1	WXS	Illumina GAIIx	Phase_I	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	571	-	Breast(56;0.135)		191					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.572G>T	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912162	0.17907	.	.	ENSG00000146399	ENST00000275216	T	0.35236	1.32	5.78	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.227894	0.44902	D	0.000405	T	0.10508	0.0257	N	0.25825	0.765	0.38009	D	0.934487	P	0.38565	0.637	B	0.37989	0.262	T	0.06770	-1.0808	10	0.02654	T	1	-4.1965	16.2866	0.82724	0.0:0.7496:0.2504:0.0	.	191	Q96RJ0	TAAR1_HUMAN	V	191	ENSP00000275216:G191V	ENSP00000275216:G191V	G	-	2	0	TAAR1	133008264	0.248000	0.23930	0.012000	0.15200	0.306000	0.27790	1.863000	0.39459	0.744000	0.32741	0.555000	0.69702	GGG		0.348	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		6	114	6	114	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134212883	134212883	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:134212883G>T	ENST00000367882.4	+	2	743	c.483G>T	c.(481-483)gaG>gaT	p.E161D	TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAAACCCGAGAGTGACCTGA	0.657																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(481-483)gaG>gaT		transcription factor 21							48.0	49.0	49.0					6																	134212883		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212883G>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.483G>T	6.37:g.134212883G>T	ENSP00000356857:p.Glu161Asp		Somatic				TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607573.1_RNA	p.E161D	NM_003206.3	NP_003197.2	WXS	Illumina GAIIx	Phase_I	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	743	+	Colorectal(23;0.221)|Breast(56;0.247)		161					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.483G>T	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	G	4.569	0.105646	0.08780	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96522	-4.04;-4.04	5.63	2.88	0.33553	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	N	0.21373	0.66	0.47308	D	0.999389	B	0.02656	0.0	B	0.01281	0.0	T	0.73773	-0.3877	10	0.10111	T	0.7	-10.8018	8.0489	0.30566	0.1582:0.1237:0.7181:0.0	.	161	O43680	TCF21_HUMAN	D	161	ENSP00000356857:E161D;ENSP00000237316:E161D	ENSP00000237316:E161D	E	+	3	2	TCF21	134254576	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.106000	0.31098	0.327000	0.23409	0.650000	0.86243	GAG		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		4	39	4	39	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755622	146755622	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:146755622C>A	ENST00000282753.1	+	8	3510	c.3275C>A	c.(3274-3276)cCg>cAg	p.P1092Q	GRM1_ENST00000361719.2_Missense_Mutation_p.P1092Q|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1092					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGTCTCCCCGCCCGCGGAC	0.652																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3274-3276)cCg>cAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						65.0	71.0	69.0					6																	146755622		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755622C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3275C>A	6.37:g.146755622C>A	ENSP00000282753:p.Pro1092Gln		Somatic				GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1092Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.P1092Q	NM_001278064.1	NP_001264993.1	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3745	+		Ovarian(120;0.0387)	1092					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3275C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458914	0.63401	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90197	-2.63;-2.63	5.71	5.71	0.89125	.	0.049415	0.85682	D	0.000000	D	0.86146	0.5863	L	0.50333	1.59	0.80722	D	1	P	0.43431	0.807	B	0.42882	0.401	D	0.88575	0.3132	10	0.87932	D	0	.	14.0568	0.64774	0.0:0.9279:0.0:0.0721	.	1092	Q13255	GRM1_HUMAN	Q	1092	ENSP00000354896:P1092Q;ENSP00000282753:P1092Q	ENSP00000282753:P1092Q	P	+	2	0	GRM1	146797315	1.000000	0.71417	0.176000	0.23000	0.506000	0.33950	5.578000	0.67450	2.700000	0.92200	0.462000	0.41574	CCG		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	128	5	128	---	---	---	---
EZR	7430	broad.mit.edu	37	6	159190925	159190925	+	Missense_Mutation	SNP	C	C	A	rs142824813	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:159190925C>A	ENST00000367075.3	-	11	1310	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	381	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTCCTGTGCCCGCTTCCTCTC	0.612			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1141-1143)cGg>cTg		ezrin							76.0	80.0	79.0					6																	159190925		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159190925C>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1142G>T	6.37:g.159190925C>A	ENSP00000356042:p.Arg381Leu		Somatic				EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	p.R381L	NM_001111077.1	NP_001104547.1	WXS	Illumina GAIIx	Phase_I	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	11	1310	-		Breast(66;0.000776)|Ovarian(120;0.0303)	381			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.1142G>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145392	0.21288	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83163	-1.69;-1.69;-1.69	5.45	4.57	0.56435	Ezrin/radixin/moesin, C-terminal (1);	0.211332	0.41605	D	0.000848	T	0.68641	0.3023	L	0.49455	1.56	0.49582	D	0.999807	B;B	0.14805	0.011;0.001	B;B	0.19391	0.025;0.002	T	0.65792	-0.6082	10	0.24483	T	0.36	.	15.5661	0.76294	0.139:0.861:0.0:0.0	.	349;381	E7EQR4;P15311	.;EZRI_HUMAN	L	381;381;349	ENSP00000338934:R381L;ENSP00000356042:R381L;ENSP00000376016:R349L	ENSP00000338934:R381L	R	-	2	0	EZR	159110913	0.995000	0.38212	0.982000	0.44146	0.020000	0.10135	3.172000	0.50832	1.292000	0.44672	-0.314000	0.08810	CGG		0.612	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		4	128	4	128	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165895804	165895804	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:165895804C>A	ENST00000366882.1	-	4	348	c.194G>T	c.(193-195)aGg>aTg	p.R65M	PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	65					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATCACTTACCCTGCTGACTTC	0.348																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(193-195)aGg>aTg		phosphodiesterase 10A	Dipyridamole(DB00975)						142.0	152.0	149.0					6																	165895804		2203	4300	6503	SO:0001630	splice_region_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165895804C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.195+1G>T	6.37:g.165895804C>A			Somatic				PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M	p.R65M			WXS	Illumina GAIIx	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	4	348	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	65					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	ENST00000366882.1	37	c.194G>T		.	.	.	.	.	.	.	.	.	.	C	13.26	2.185465	0.38609	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.72282	-0.64;-0.64	3.45	3.45	0.39498	.	0.318400	0.35179	N	0.003390	T	0.45337	0.1337	L	0.40543	1.245	0.39695	D	0.971097	B;P	0.34780	0.119;0.468	B;B	0.29942	0.076;0.109	T	0.58323	-0.7656	10	0.59425	D	0.04	.	10.7012	0.45928	0.0:1.0:0.0:0.0	.	75;65	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	65;93;75;65;64	ENSP00000355847:R65M;ENSP00000346435:R65M	ENSP00000341187:R75M	R	-	2	0	PDE10A	165815794	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.180000	0.50895	2.235000	0.73313	0.563000	0.77884	AGG		0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Missense_Mutation	6	145	6	145	---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2771007	2771007	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:2771007C>A	ENST00000275364.3	-	4	1116	c.954G>T	c.(952-954)agG>agT	p.R318S	AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S|GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	318					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCGGGTCGCCCCTGAAGTCCG	0.567																																						ENST00000275364.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(952-954)agG>agT		guanine nucleotide binding protein (G protein) alpha 12							108.0	90.0	96.0					7																	2771007		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771007C>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.954G>T	7.37:g.2771007C>A	ENSP00000275364:p.Arg318Ser		Somatic				GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S	p.R318S	NM_007353.2	NP_031379.2	WXS	Illumina GAIIx	Phase_I	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	1116	-		Ovarian(82;0.0112)	318					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.954G>T	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	2.205	-0.382027	0.04966	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	6.17	2.14	0.27477	.	0.260214	0.42964	D	0.000630	T	0.67515	0.2901	N	0.02539	-0.55	0.36646	D	0.877112	B;B;B	0.15141	0.012;0.001;0.012	B;B;B	0.24701	0.055;0.007;0.055	T	0.57353	-0.7826	10	0.23302	T	0.38	.	8.0214	0.30412	0.0:0.6875:0.1126:0.2	.	318;318;259	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	S	318;259;242;170;225	ENSP00000275364:R318S;ENSP00000385935:R259S;ENSP00000386054:R242S;ENSP00000380160:R170S;ENSP00000437469:R225S	ENSP00000275364:R318S	R	-	3	2	GNA12	2737533	0.003000	0.15002	0.183000	0.23137	0.467000	0.32768	0.075000	0.14686	0.400000	0.25396	-0.345000	0.07892	AGG		0.567	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		6	76	6	76	---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6080676	6080676	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:6080676G>T	ENST00000199389.6	-	9	1112	c.966C>A	c.(964-966)acC>acA	p.T322T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGCTCCAGGGTCGACTCAA	0.458																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(964-966)acC>acA		eukaryotic translation initiation factor 2-alpha kinase 1							156.0	155.0	156.0					7																	6080676		2203	4300	6503	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6080676G>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.966C>A	7.37:g.6080676G>T			Somatic				EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	p.T322T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	WXS	Illumina GAIIx	Phase_I	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	9	1112	-		Ovarian(82;0.0423)	322			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.966C>A	CCDS5345.1																																																																																				0.458	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		8	178	8	178	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000432645.2	+	22	2869	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.D957Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	957	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423																																						ENST00000406451.4																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2869-2871)Gat>Tat		histone deacetylase 9	Valproic Acid(DB00313)						210.0	205.0	206.0					7																	18975506		1957	4156	6113	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975506G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2869G>T	7.37:g.18975506G>T	ENSP00000410337:p.Asp957Tyr		Somatic				HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	p.D957Y	NM_178423.1	NP_848510.1	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			23	3019	+	all_lung(11;0.187)					Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2869G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805830	0.90623	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000006	D	0.89715	0.6795	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.97;0.97;0.983;0.97	D	0.91986	0.5599	10	0.87932	D	0	-16.3427	20.0661	0.97704	0.0:0.0:1.0:0.0	.	205;916;960;957;957	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	Y	957;916;957;960;869	ENSP00000384657:D957Y;ENSP00000383912:D916Y;ENSP00000410337:D957Y;ENSP00000408617:D960Y	ENSP00000339165:D869Y	D	+	1	0	HDAC9	18942031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.739000	0.93911	0.563000	0.77884	GAT		0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	220	18	220	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764231	82764231	+	Missense_Mutation	SNP	G	G	T	rs184031015		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:82764231G>T	ENST00000333891.9	-	3	2972	c.2635C>A	c.(2635-2637)Cct>Act	p.P879T	PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTGGGCCAGGGGGTGTTGGT	0.522																																						ENST00000333891.9																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2635-2637)Cct>Act		piccolo presynaptic cytomatrix protein							203.0	204.0	204.0					7																	82764231		1989	4164	6153	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764231G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2635C>A	7.37:g.82764231G>T	ENSP00000334319:p.Pro879Thr		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	p.P879T	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			3	2972	-						Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2635C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	6.509	0.462083	0.12342	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.4	5.93	-1.75	0.08031	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.33343	-0.9872	9	0.87932	D	0	.	1.8476	0.03162	0.323:0.3625:0.1519:0.1626	.	879;879	Q9Y6V0-5;Q9Y6V0-6	.;.	T	825;879;879	ENSP00000334319:P879T;ENSP00000388393:P879T	ENSP00000334319:P879T	P	-	1	0	PCLO	82602167	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.255000	0.08769	-0.290000	0.09025	0.561000	0.74099	CCT		0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	371	9	371	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000340022.2	-	8	1595	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000394507.1_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193	Interaction with ITGB1BP1.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(577-579)Cct>Tct		KRIT1, ankyrin repeat containing							165.0	159.0	161.0					7																	91864869		2203	4300	6503	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91864869G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.577C>T	7.37:g.91864869G>A	ENSP00000344668:p.Pro193Ser		Somatic				KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	p.P193S	NM_194456.1	NP_919438.1	WXS	Illumina GAIIx	Phase_I	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1360	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		193					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.577C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113387	0.94339	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;D;D	0.95821	-1.38;-1.38;-1.38;-1.38;-2.04;-3.82	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.75484	0.815;0.986	D	0.97261	0.9904	10	0.87932	D	0	0.94	18.7703	0.91888	0.0:0.0:1.0:0.0	.	193;193	A6NNU0;O00522	.;KRIT1_HUMAN	S	193	ENSP00000378015:P193S;ENSP00000344668:P193S;ENSP00000410909:P193S;ENSP00000378013:P193S;ENSP00000378011:P193S;ENSP00000391675:P193S	ENSP00000344668:P193S	P	-	1	0	KRIT1	91702805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.416000	0.81992	0.460000	0.39030	CCT		0.393	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			7	103	7	103	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94037158	94037158	+	Splice_Site	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.e13-1		collagen, type I, alpha 2	Collagenase(DB00048)						69.0	66.0	67.0					7																	94037158		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94037158G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.595-1G>A	7.37:g.94037158G>A		HNSCC(75;0.22)	Somatic						NM_000089.3	NP_000080.2	WXS	Illumina GAIIx	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1065	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)							P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37		CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062916	0.76187	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.73	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8794	0.86060	0.0:0.1284:0.8716:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93875094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.183000	0.94887	1.521000	0.48983	0.650000	0.86243	.		0.323	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Intron	5	27	5	27	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99691010	99691010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:99691010C>A	ENST00000303887.5	-	14	2508	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	621	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACATCCACCATTCTCAGAC	0.537																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1861-1863)atG>atT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						171.0	171.0	171.0					7																	99691010		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691010C>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1863G>T	7.37:g.99691010C>A	ENSP00000307288:p.Met621Ile		Somatic				MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MCM7_ENST00000343023.6_Intron	p.M621I	NM_005916.3	NP_005907.3	WXS	Illumina GAIIx	Phase_I	P33993	MCM7_HUMAN			14	2508	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		621			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1863G>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	c	18.01	3.527021	0.64860	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.05925	3.37;3.37	5.34	5.34	0.76211	.	0.044639	0.85682	D	0.000000	T	0.07369	0.0186	L	0.28694	0.88	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.21042	-1.0257	10	0.66056	D	0.02	-15.4454	16.5889	0.84759	0.0:1.0:0.0:0.0	.	621	P33993	MCM7_HUMAN	I	621;558;514;445	ENSP00000307288:M621I;ENSP00000346171:M445I	ENSP00000307288:M621I	M	-	3	0	MCM7	99528946	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.307000	0.59123	2.786000	0.95864	0.586000	0.80456	ATG		0.537	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			6	175	6	175	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683342	100683342	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100683342C>A	ENST00000306151.4	+	3	8709	c.8645C>A	c.(8644-8646)gCc>gAc	p.A2882D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2882	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)					ACGCCGGTGGCCAGTTCTGAG	0.483																																						ENST00000306151.4																			0				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.(8644-8646)gCc>gAc		mucin 17, cell surface associated							263.0	273.0	269.0					7																	100683342		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683342C>A	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.8645C>A	7.37:g.100683342C>A	ENSP00000302716:p.Ala2882Asp		Somatic					p.A2882D	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8709	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2882			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8645C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.698	-0.791877	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.478	-0.796	0.10912	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.49495	-0.8934	8	0.29301	T	0.29	.	.	.	.	.	2882	Q685J3	MUC17_HUMAN	D	2882	ENSP00000302716:A2882D	ENSP00000302716:A2882D	A	+	2	0	MUC17	100470062	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.820000	0.27323	-0.328000	0.08539	0.134000	0.15878	GCC		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	463	10	463	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127225212	127225212	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:127225212C>A	ENST00000321407.2	-	1	449	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	9					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCCGCCCCCGAAATTCATC	0.592											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(25-27)Ggg>Tgg		GRIP and coiled-coil domain containing 1							58.0	65.0	63.0					7																	127225212		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225212C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.25G>T	7.37:g.127225212C>A	ENSP00000318821:p.Gly9Trp		Somatic	OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.G9W	NM_024523.5	NP_078799.2	WXS	Illumina GAIIx	Phase_I	Q96CN9	GCC1_HUMAN			1	449	-			9					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.25G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496977	0.85069	.	.	ENSG00000179562	ENST00000321407	T	0.36699	1.24	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60362	-0.7278	10	0.87932	D	0	-37.7454	17.2701	0.87098	0.0:1.0:0.0:0.0	.	9	Q96CN9	GCC1_HUMAN	W	9	ENSP00000318821:G9W	ENSP00000318821:G9W	G	-	1	0	GCC1	127012448	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.302000	0.78861	2.687000	0.91594	0.563000	0.77884	GGG		0.592	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		4	100	4	100	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:133812132C>A	ENST00000285928.2	+	1	81	c.12C>A	c.(10-12)tcC>tcA	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S4S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612																																						ENST00000285928.2																			1	Substitution - coding silent(1)	p.S4S(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(10-12)tcC>tcA		leucine-rich repeats and guanylate kinase domain containing							79.0	86.0	84.0					7																	133812132		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133812132C>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.12C>A	7.37:g.133812132C>A			Somatic				LRGUK_ENST00000473068.1_3'UTR	p.S4S	NM_144648.1	NP_653249.1	WXS	Illumina GAIIx	Phase_I	Q96M69	LRGUK_HUMAN			1	81	+			4					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.12C>A	CCDS5830.1																																																																																				0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		5	140	5	140	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(817-819)Ctt>Ttt		olfactory receptor, family 2, subfamily A, member 12							207.0	199.0	201.0					7																	143793017		1912	4138	6050	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793017C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.817C>T	7.37:g.143793017C>T	ENSP00000386174:p.Leu273Phe		Somatic					p.L273F	NM_001004135.1	NP_001004135.1	WXS	Illumina GAIIx	Phase_I	Q8NGT7	O2A12_HUMAN			1	877	+	Melanoma(164;0.0783)		273					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.817C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691634	0.30052	.	.	ENSG00000221858	ENST00000408949	T	0.38401	1.14	4.33	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.35799	0.0944	L	0.39020	1.185	0.09310	N	1	P	0.36712	0.566	P	0.47470	0.548	T	0.31336	-0.9947	9	0.56958	D	0.05	-15.1335	6.2571	0.20879	0.0:0.5767:0.0:0.4233	.	273	Q8NGT7	O2A12_HUMAN	F	273	ENSP00000386174:L273F	ENSP00000386174:L273F	L	+	1	0	OR2A12	143423950	0.000000	0.05858	0.001000	0.08648	0.518000	0.34316	-0.345000	0.07770	0.128000	0.18479	0.505000	0.49811	CTT		0.522	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			80	216	80	216	---	---	---	---
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(490-492)ccC>ccA		transmembrane protein 176A							61.0	61.0	61.0					7																	150500857		2203	4300	6503	SO:0001819	synonymous_variant	55365					integral to membrane		g.chr7:150500857C>A	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.492C>A	7.37:g.150500857C>A			Somatic				TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P	p.P164P			WXS	Illumina GAIIx	Phase_I	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1073	+			164					D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	c.492C>A	CCDS5909.1																																																																																				0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		5	87	5	87	---	---	---	---
TMUB1	83590	broad.mit.edu	37	7	150779390	150779390	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150779390C>A	ENST00000392818.3	-	2	618	c.261G>T	c.(259-261)acG>acT	p.T87T	TMUB1_ENST00000297533.4_Silent_p.T87T|TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000476627.1_Silent_p.T87T|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000353841.2_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	87						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAACCCCGTGCTGGGCT	0.657																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(259-261)acG>acT		transmembrane and ubiquitin-like domain containing 1							86.0	106.0	99.0					7																	150779390		2203	4300	6503	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779390C>A	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.261G>T	7.37:g.150779390C>A			Somatic				TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000476627.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|TMUB1_ENST00000297533.4_Silent_p.T87T	p.T87T	NM_031434.3	NP_113622.1	WXS	Illumina GAIIx	Phase_I	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	618	-			87					D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.261G>T	CCDS5920.1																																																																																				0.657	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		6	214	6	214	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748567	8748567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:8748567C>A	ENST00000276282.6	-	1	2588	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	668										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAATGCAGTTCCTCCAGCACC	0.612																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2002-2004)Gaa>Taa		malignant fibrous histiocytoma amplified sequence 1							60.0	49.0	53.0					8																	8748567		2203	4300	6503	SO:0001587	stop_gained	9258							g.chr8:8748567C>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2002G>T	8.37:g.8748567C>A	ENSP00000276282:p.Glu668*		Somatic					p.E668*	NM_004225.2	NP_004216.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2588	-		Hepatocellular(245;0.217)	668					Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	37	c.2002G>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	45	11.981448	0.99623	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.5011	0.87732	0.0:1.0:0.0:0.0	.	.	.	.	X	668	.	ENSP00000276282:E668X	E	-	1	0	MFHAS1	8785977	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.784000	0.68990	2.596000	0.87737	0.655000	0.94253	GAA		0.612	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		4	17	4	17	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22423994	22423994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:22423994C>A	ENST00000240123.7	+	13	1470	c.1087C>A	c.(1087-1089)Cga>Aga	p.R363R	SORBS3_ENST00000428103.1_Silent_p.R21R|SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	363					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTCCTCAACCCGAGGTAAGGA	0.612																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1087-1089)Cga>Aga		sorbin and SH3 domain containing 3							82.0	79.0	80.0					8																	22423994		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22423994C>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1087C>A	8.37:g.22423994C>A			Somatic				SORBS3_ENST00000428103.1_Silent_p.R21R|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	p.R363R	NM_005775.4	NP_005766.3	WXS	Illumina GAIIx	Phase_I	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	13	1470	+		Prostate(55;0.0421)|Breast(100;0.102)	363					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.1087C>A	CCDS6031.1																																																																																				0.612	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		5	56	5	56	---	---	---	---
ELP3	55140	broad.mit.edu	37	8	27957465	27957465	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:27957465C>A	ENST00000256398.8	+	3	617	c.240C>A	c.(238-240)ccC>ccA	p.P80P	ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000524103.1_Silent_p.P8P	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	80					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGGCGAAACCCATCAGAACTG	0.542																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(238-240)ccC>ccA		elongator acetyltransferase complex subunit 3							135.0	110.0	119.0					8																	27957465		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27957465C>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.240C>A	8.37:g.27957465C>A			Somatic				ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Silent_p.P8P|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron	p.P80P	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	WXS	Illumina GAIIx	Phase_I	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	3	617	+		Ovarian(32;0.0218)	80					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.240C>A	CCDS6065.1																																																																																				0.542	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		5	80	5	80	---	---	---	---
DUSP4	1846	broad.mit.edu	37	8	29207773	29207773	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:29207773C>A	ENST00000240100.2	-	1	412	c.23G>T	c.(22-24)cGg>cTg	p.R8L	RP4-676L2.1_ENST00000567818.1_RNA|DUSP4_ENST00000240101.2_5'Flank	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	8					endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCATCTCCCGCAGCTCCTC	0.701																																						ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(22-24)cGg>cTg		dual specificity phosphatase 4							20.0	23.0	22.0					8																	29207773		2168	4205	6373	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29207773C>A	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.23G>T	8.37:g.29207773C>A	ENSP00000240100:p.Arg8Leu		Somatic					p.R8L	NM_001394.6	NP_001385.1	WXS	Illumina GAIIx	Phase_I	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	1	412	-			8					B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.23G>T	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339358	0.60963	.	.	ENSG00000120875	ENST00000240100	T	0.41065	1.01	3.77	2.89	0.33648	Rhodanese-like (2);	0.213462	0.41097	D	0.000958	T	0.20780	0.0500	N	0.08118	0	0.80722	D	1	B	0.24426	0.103	B	0.18561	0.022	T	0.05146	-1.0903	10	0.36615	T	0.2	.	9.3842	0.38333	0.0:0.8912:0.0:0.1088	.	8	Q13115	DUS4_HUMAN	L	8	ENSP00000240100:R8L	ENSP00000240100:R8L	R	-	2	0	DUSP4	29263692	0.866000	0.29940	1.000000	0.80357	0.997000	0.91878	1.199000	0.32235	1.164000	0.42652	0.491000	0.48974	CGG		0.701	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		4	63	4	63	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37690631	37690631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:37690631C>A	ENST00000412232.2	+	9	1214	c.1201C>A	c.(1201-1203)Cgc>Agc	p.R401S	GPR124_ENST00000315215.7_Missense_Mutation_p.R401S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	401					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGAGCCTCCCGCCGGTGTGA	0.672																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1201-1203)Cgc>Agc		G protein-coupled receptor 124							40.0	46.0	44.0					8																	37690631		2201	4299	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37690631C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1201C>A	8.37:g.37690631C>A	ENSP00000406367:p.Arg401Ser		Somatic				GPR124_ENST00000412232.2_Missense_Mutation_p.R401S	p.R401S			WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		9	1564	+			401					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1201C>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249103	0.80024	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.69806	-0.43;-0.43	5.11	5.11	0.69529	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.64402	D	0.000001	T	0.79713	0.4493	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.81482	-0.0913	10	0.66056	D	0.02	-31.8014	14.1813	0.65577	0.2198:0.7802:0.0:0.0	.	401;401	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	394;401;401	ENSP00000323508:R401S;ENSP00000406367:R401S	ENSP00000323508:R401S	R	+	1	0	GPR124	37809789	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	3.121000	0.50438	2.374000	0.81015	0.655000	0.94253	CGC		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	69	5	69	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766823	77766823	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:77766823C>A	ENST00000521891.2	+	10	8114	c.7666C>A	c.(7666-7668)Ctc>Atc	p.L2556I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCAGTTCCCTCACTCAAAT	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7666-7668)Ctc>Atc		zinc finger homeobox 4							87.0	86.0	87.0					8																	77766823		1952	4139	6091	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766823C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7666C>A	8.37:g.77766823C>A	ENSP00000430497:p.Leu2556Ile	HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I	p.L2556I	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8114	+			2511					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7666C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.139943	0.06669	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	5.38	4.43	0.53597	.	0.000000	0.35646	U	0.003066	T	0.35422	0.0931	L	0.43152	1.355	0.45718	D	0.998625	B;B;B	0.31790	0.23;0.34;0.232	B;B;B	0.33846	0.082;0.171;0.113	T	0.07214	-1.0784	10	0.17369	T	0.5	.	7.4819	0.27411	0.0:0.7085:0.1605:0.131	.	2511;2511;2556	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2556;2540;2511;2511;2530	ENSP00000430497:L2556I;ENSP00000399605:L2511I;ENSP00000050961:L2511I;ENSP00000430848:L2530I	ENSP00000050961:L2511I	L	+	1	0	ZFHX4	77929378	0.998000	0.40836	0.870000	0.34147	0.053000	0.15095	3.100000	0.50275	2.791000	0.96007	0.650000	0.86243	CTC		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	96	5	96	---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91029480	91029480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:91029480G>T	ENST00000220764.2	+	2	286	c.198G>T	c.(196-198)ggG>ggT	p.G66G	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Silent_p.G57G	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	66					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATTACTGGGGGAGGTACTG	0.443																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(169-171)ggG>ggT		2,4-dienoyl CoA reductase 1, mitochondrial							97.0	101.0	99.0					8																	91029480		2203	4300	6503	SO:0001819	synonymous_variant	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91029480G>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.198G>T	8.37:g.91029480G>T			Somatic				DECR1_ENST00000220764.2_Silent_p.G66G|DECR1_ENST00000519007.1_3'UTR	p.G57G			WXS	Illumina GAIIx	Phase_I	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		4	854	+			66					B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	c.171G>T	CCDS6250.1																																																																																				0.443	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			6	135	6	135	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599467	116599467	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:116599467G>T	ENST00000220888.5	-	4	2581	c.2422C>A	c.(2422-2424)Caa>Aaa	p.Q808K	TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000395715.3_Missense_Mutation_p.Q821K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	808	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCTTGCTTGGGTGTATGAC	0.587									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2461-2463)Caa>Aaa		trichorhinophalangeal syndrome I							138.0	143.0	141.0					8																	116599467		1956	4136	6092	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599467G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2422C>A	8.37:g.116599467G>T	ENSP00000220888:p.Gln808Lys		Somatic				TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K	p.Q821K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	WXS	Illumina GAIIx	Phase_I	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3038	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		808					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2461C>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.217357	0.79352	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98362	-4.89;-4.87;-4.84;-4.87;0.92	5.76	5.76	0.90799	.	0.253507	0.40469	N	0.001096	D	0.97065	0.9041	L	0.32530	0.975	0.50813	D	0.999894	P;P;P	0.50943	0.94;0.9;0.94	P;B;P	0.47402	0.546;0.344;0.546	D	0.97667	1.0164	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	812;808;821	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	821;808;562;812;808	ENSP00000379065:Q821K;ENSP00000220888:Q808K;ENSP00000428910:Q562K;ENSP00000428680:Q812K;ENSP00000429174:Q808K	ENSP00000220888:Q808K	Q	-	1	0	TRPS1	116668642	1.000000	0.71417	0.102000	0.21198	0.887000	0.51463	7.842000	0.86851	2.726000	0.93360	0.655000	0.94253	CAA		0.587	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	227	7	227	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146108208	146108208	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:146108208C>A	ENST00000292579.7	-	6	491	c.375G>T	c.(373-375)aaG>aaT	p.K125N	ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	125					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.K125N(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GACTCTCTCCCTTGGTTTCAC	0.403																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			1	Substitution - Missense(1)	p.K125N(1)	lung(1)	endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(373-375)aaG>aaT		zinc finger protein 250							128.0	133.0	131.0					8																	146108208		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108208C>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.375G>T	8.37:g.146108208C>A	ENSP00000292579:p.Lys125Asn		Somatic				ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N	p.K125N	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	WXS	Illumina GAIIx	Phase_I	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	491	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		125					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.375G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	1.005	-0.689628	0.03328	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533221;ENST00000533622;ENST00000525694	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.03	3.1	0.35709	.	0.133358	0.34603	N	0.003835	T	0.37156	0.0993	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.30482	0.281;0.22	B;B	0.27076	0.076;0.074	T	0.10613	-1.0622	10	0.15499	T	0.54	-26.8802	5.1731	0.15120	0.0:0.6437:0.0:0.3563	.	120;125	D3DWP1;P15622	.;ZN250_HUMAN	N	125;120;120;99;120;120	ENSP00000292579:K125N;ENSP00000393442:K120N;ENSP00000433387:K120N;ENSP00000432450:K120N	ENSP00000292579:K125N	K	-	3	2	ZNF250	146079012	0.000000	0.05858	0.012000	0.15200	0.123000	0.20343	0.459000	0.21908	1.213000	0.43380	0.313000	0.20887	AAG		0.403	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		6	176	6	176	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168532	13168532	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:13168532C>A	ENST00000319217.7	-	22	3334	c.3087G>T	c.(3085-3087)ttG>ttT	p.L1029F	MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1029	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGATCATCCCCAAGCCATCTT	0.363																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3085-3087)ttG>ttT		multiple PDZ domain protein							185.0	176.0	179.0					9																	13168532		1900	4112	6012	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168532C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3087G>T	9.37:g.13168532C>A	ENSP00000320006:p.Leu1029Phe		Somatic				MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	p.L1029F	NM_001261406.1	NP_001248335.1	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3334	-			1029			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3087G>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.438553	0.62955	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.36	2.03	0.26663	.	0.229208	0.22173	N	0.063618	T	0.39600	0.1084	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.993	D;P;P	0.65773	0.938;0.857;0.898	T	0.14811	-1.0459	10	0.21540	T	0.41	.	7.2285	0.26028	0.0:0.5148:0.0:0.4852	.	1029;1029;1029	B7ZMI4;O75970-3;O75970-2	.;.;.	F	1029;1029;1029;35;1029;1029;1029;979;1029	ENSP00000320006:L1029F;ENSP00000439807:L1029F;ENSP00000370410:L1029F;ENSP00000444230:L35F;ENSP00000444151:L1029F;ENSP00000415208:L1029F;ENSP00000370403:L1029F;ENSP00000446358:L1029F	ENSP00000320006:L1029F	L	-	3	2	MPDZ	13158532	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.998000	0.29744	0.749000	0.32854	0.655000	0.94253	TTG		0.363	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		6	234	6	234	---	---	---	---
IFNA6	3443	broad.mit.edu	37	9	21350489	21350489	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:21350489G>T	ENST00000380210.1	-	1	888	c.398C>A	c.(397-399)cCc>cAc	p.P133H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	133					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCCCTCC	0.498																																						ENST00000380210.1																			0				large_intestine(3)|lung(7)|skin(1)	11						c.(397-399)cCc>cAc		interferon, alpha 6							200.0	201.0	201.0					9																	21350489		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350489G>T		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.398C>A	9.37:g.21350489G>T	ENSP00000369558:p.Pro133His		Somatic					p.P133H	NM_021002.2	NP_066282.1	WXS	Illumina GAIIx	Phase_I	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	888	-			133					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.398C>A	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416323	0.25552	.	.	ENSG00000120235	ENST00000380210	T	0.03496	3.91	3.78	2.87	0.33458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.298961	0.27591	N	0.018696	T	0.08223	0.0205	M	0.80183	2.485	0.09310	N	1	B	0.15141	0.012	B	0.31245	0.126	T	0.14476	-1.0471	10	0.66056	D	0.02	.	8.7139	0.34399	0.1138:0.0:0.8862:0.0	.	133	P05013	IFNA6_HUMAN	H	133	ENSP00000369558:P133H	ENSP00000369558:P133H	P	-	2	0	IFNA6	21340489	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	0.793000	0.26944	0.674000	0.31244	0.591000	0.81541	CCC		0.498	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		8	293	8	293	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634292	32634292	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:32634292C>A	ENST00000242310.4	-	1	1375	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	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	429					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)		AGAATCCTCCCAATGCAGCTG	0.458																																						ENST00000242310.4																			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.(1285-1287)tGg>tTg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							240.0	223.0	229.0					9																	32634292		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.chr9:32634292C>A	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.1286G>T	9.37:g.32634292C>A	ENSP00000418379:p.Trp429Leu		Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.W429L	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1375	-			429					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1286G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150019	0.57151	.	.	ENSG00000122728	ENST00000242310	T	0.55413	0.52	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.82517	2.595	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.67612	-0.5626	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	429	Q8IZX4	TAF1L_HUMAN	L	429	ENSP00000418379:W429L	ENSP00000418379:W429L	W	-	2	0	TAF1L	32624292	1.000000	0.71417	0.935000	0.37517	0.311000	0.27955	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	TGG		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	237	7	237	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33924204	33924204	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:33924204C>A	ENST00000379238.1	-	23	2707	c.2590G>T	c.(2590-2592)Ggt>Tgt	p.G864C	UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCAAACTCACCTGGATATGGA	0.562																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2590-2592)Ggt>Tgt		ubiquitin associated protein 2							94.0	90.0	91.0					9																	33924204		2203	4300	6503	SO:0001630	splice_region_variant	55833							g.chr9:33924204C>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2590+1G>T	9.37:g.33924204C>A			Somatic				UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C	p.G864C			WXS	Illumina GAIIx	Phase_I	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	23	2707	-			864						Splice_Site	SNP	ENST00000379238.1	37	c.2590G>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106668	0.37145	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.8	3.96	0.45880	.	0.085063	0.85682	D	0.000000	T	0.52837	0.1759	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;P	0.68943	0.961;0.944;0.944;0.944;0.879	T	0.56129	-0.8030	9	.	.	.	-14.0719	11.9624	0.53015	0.0:0.8612:0.0:0.1388	.	789;619;597;773;864	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	C	864;864;864;773;103;597;619;300	ENSP00000368540:G864C;ENSP00000416932:G864C;ENSP00000354039:G864C;ENSP00000368537:G103C;ENSP00000368541:G597C;ENSP00000439329:G619C	.	G	-	1	0	UBAP2	33914204	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	3.105000	0.50314	1.475000	0.48197	-0.258000	0.10820	GGT		0.562	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Missense_Mutation	6	103	6	103	---	---	---	---
VCP	7415	broad.mit.edu	37	9	35068275	35068275	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35068275C>A	ENST00000358901.6	-	2	997	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	34					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACTGTTGTCCTCATTGATGG	0.443																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(100-102)gaG>gaT		valosin containing protein							374.0	344.0	354.0					9																	35068275		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35068275C>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.102G>T	9.37:g.35068275C>A	ENSP00000351777:p.Glu34Asp		Somatic					p.E34D	NM_007126.3	NP_009057.1	WXS	Illumina GAIIx	Phase_I	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	997	-			34					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.102G>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	5.322	0.244741	0.10077	.	.	ENSG00000165280	ENST00000358901	T	0.81415	-1.49	6.06	2.88	0.33553	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	N	0.00049	-2.42	0.44234	D	0.997075	B	0.02656	0.0	B	0.01281	0.0	T	0.51529	-0.8694	10	0.02654	T	1	-31.3762	7.1114	0.25392	0.0:0.612:0.0:0.388	.	34	P55072	TERA_HUMAN	D	34	ENSP00000351777:E34D	ENSP00000351777:E34D	E	-	3	2	VCP	35058275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.197000	0.32211	0.884000	0.36064	0.655000	0.94253	GAG		0.443	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		9	404	9	404	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35810051	35810051	+	IGR	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35810051C>A	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000484764.1_Missense_Mutation_p.G440W|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AAAAGTTTCCCCAGAGACAAG	0.537																																						ENST00000484764.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1318-1320)Ggg>Tgg		sperm associated antigen 8							155.0	173.0	167.0					9																	35810051		2196	4297	6493	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810051C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810051C>A			Somatic				SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron	p.G440W			WXS	Illumina GAIIx	Phase_I	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1358	-	all_epithelial(49;0.161)		81					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1318G>T	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.952787|2.952787	0.53293|0.53293	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000484764;ENST00000396638|ENST00000497810	T;T|.	0.34472|.	1.37;1.36|.	5.53|5.53	4.63|4.63	0.57726|0.57726	.|.	.|.	.|.	.|.	.|.	T|T	0.41351|0.41351	0.1155|0.1155	L|L	0.44542|0.44542	1.39|1.39	0.26497|0.26497	N|N	0.974844|0.974844	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.24657|0.24657	-1.0154|-1.0154	9|5	0.87932|.	D|.	0|.	.|.	9.3166|9.3166	0.37937|0.37937	0.0:0.9054:0.0:0.0946|0.0:0.9054:0.0:0.0946	.|.	448|.	E9PDV6|.	.|.	W|C	440;448|445	ENSP00000418072:G440W;ENSP00000379878:G448W|.	ENSP00000379878:G448W|.	G|W	-|-	1|3	0|0	SPAG8|SPAG8	35800051|35800051	0.373000|0.373000	0.25073|0.25073	0.980000|0.980000	0.43619|0.43619	0.924000|0.924000	0.55760|0.55760	1.901000|1.901000	0.39838|0.39838	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.537	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			7	173	7	173	---	---	---	---
MAMDC2	256691	broad.mit.edu	37	9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1096-1098)aaA>aaT		MAM domain containing 2							140.0	130.0	133.0					9																	72755164		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755164A>T	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1098A>T	9.37:g.72755164A>T	ENSP00000366387:p.Lys366Asn		Somatic				MAMDC2-AS1_ENST00000591368.1_RNA	p.K366N	NM_153267.4	NP_694999.3	WXS	Illumina GAIIx	Phase_I	Q7Z304	MAMC2_HUMAN			8	1715	+			366			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1098A>T	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431009	0.83776	.	.	ENSG00000165072	ENST00000377182	T	0.02177	4.41	6.02	-3.09	0.05331	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.081948	0.85682	D	0.000000	T	0.05914	0.0154	L	0.57536	1.79	0.46901	D	0.999242	P	0.50617	0.937	P	0.59643	0.861	T	0.10941	-1.0608	10	0.23302	T	0.38	-18.6317	13.5162	0.61541	0.4347:0.0:0.5653:0.0	.	366	Q7Z304	MAMC2_HUMAN	N	366	ENSP00000366387:K366N	ENSP00000366387:K366N	K	+	3	2	MAMDC2	71944984	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	0.841000	0.27613	-0.302000	0.08869	0.533000	0.62120	AAA		0.463	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		7	127	7	127	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79834914	79834914	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:79834914C>A	ENST00000360280.3	+	11	1059	c.799C>A	c.(799-801)Cga>Aga	p.R267R	VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R|VPS13A_ENST00000376634.4_Silent_p.R267R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	267					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAATCGCCGATCTGATTT	0.313																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(799-801)Cga>Aga		vacuolar protein sorting 13 homolog A (S. cerevisiae)							80.0	82.0	82.0					9																	79834914		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79834914C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.799C>A	9.37:g.79834914C>A			Somatic				VPS13A_ENST00000376634.4_Silent_p.R267R|VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R	p.R267R	NM_033305.2	NP_150648.2	WXS	Illumina GAIIx	Phase_I	Q96RL7	VP13A_HUMAN			11	1059	+			267					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.799C>A	CCDS6655.1																																																																																				0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	119	5	119	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101787171	101787171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:101787171C>A	ENST00000375001.3	+	15	2293	c.1870C>A	c.(1870-1872)Cca>Aca	p.P624T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	624	Collagen-like 1.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGGACCCCCAGGGCCACC	0.507																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1870-1872)Cca>Aca		collagen, type XV, alpha 1							57.0	59.0	58.0					9																	101787171		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101787171C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1870C>A	9.37:g.101787171C>A	ENSP00000364140:p.Pro624Thr		Somatic					p.P624T	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			15	2293	+		Acute lymphoblastic leukemia(62;0.0562)	624			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1870C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505210	0.44558	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.97710	-4.5	4.48	4.48	0.54585	.	0.186512	0.47455	N	0.000221	D	0.97882	0.9304	M	0.72118	2.19	0.35751	D	0.819402	D	0.89917	1.0	D	0.91635	0.999	D	0.98160	1.0446	10	0.08179	T	0.78	-3.469	12.5278	0.56096	0.0:1.0:0.0:0.0	.	624	P39059	COFA1_HUMAN	T	624;594	ENSP00000364140:P624T	ENSP00000364140:P624T	P	+	1	0	COL15A1	100826992	0.979000	0.34478	0.994000	0.49952	0.994000	0.84299	4.544000	0.60691	2.342000	0.79632	0.655000	0.94253	CCA		0.507	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	70	5	70	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104313041	104313041	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:104313041C>A	ENST00000389120.3	+	10	1336	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	416					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H416N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGAGGAACCCACCAGCACCA	0.463																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.H416N(1)	prostate(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1246-1248)Cac>Aac		ring finger protein 20, E3 ubiquitin protein ligase							193.0	206.0	202.0					9																	104313041		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104313041C>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1246C>A	9.37:g.104313041C>A	ENSP00000373772:p.His416Asn		Somatic					p.H416N	NM_019592.5	NP_062538.5	WXS	Illumina GAIIx	Phase_I	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1336	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	416					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1246C>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116076	0.56505	.	.	ENSG00000155827	ENST00000389120	T	0.37058	1.22	5.92	5.92	0.95590	.	0.088981	0.85682	D	0.000000	T	0.40909	0.1136	M	0.64997	1.995	0.48762	D	0.9997	B	0.22276	0.067	B	0.21360	0.034	T	0.12993	-1.0526	10	0.31617	T	0.26	-18.6552	19.9164	0.97064	0.0:1.0:0.0:0.0	.	416	Q5VTR2	BRE1A_HUMAN	N	416	ENSP00000373772:H416N	ENSP00000373772:H416N	H	+	1	0	RNF20	103352862	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.402000	0.59722	2.810000	0.96702	0.650000	0.86243	CAC		0.463	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		6	199	6	199	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109688260	109688260	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109688260C>A	ENST00000277225.5	+	3	2356	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P689P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	689					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P689P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTTGTCACCCGTGAAGAAGA	0.433																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.P689P(1)	lung(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2065-2067)ccC>ccA		zinc finger protein 462							190.0	190.0	190.0					9																	109688260		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688260C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2067C>A	9.37:g.109688260C>A			Somatic				ZNF462_ENST00000457913.1_Silent_p.P689P	p.P689P			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	2356	+			689					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2067C>A	CCDS35096.1																																																																																				0.433	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	248	8	248	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689354	109689354	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109689354C>A	ENST00000277225.5	+	3	3450	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1054					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAACACCCCGAAGAAAAG	0.443																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3160-3162)cCc>cAc		zinc finger protein 462							195.0	190.0	192.0					9																	109689354		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689354C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3161C>A	9.37:g.109689354C>A	ENSP00000277225:p.Pro1054His		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H	p.P1054H			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	3450	+			1054					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3161C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582903	0.65992	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.15952	2.38;2.75	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.34354	-0.9832	10	0.72032	D	0.01	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	1054;1054	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	1054	ENSP00000277225:P1054H;ENSP00000414570:P1054H	ENSP00000277225:P1054H	P	+	2	0	ZNF462	108729175	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	7.714000	0.84703	2.630000	0.89119	0.655000	0.94253	CCC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	188	7	188	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131356647	131356647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:131356647C>A	ENST00000372731.4	+	24	3519	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1137K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1137					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGACTTCCAGAAGGTATG	0.418																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(3409-3411)Cag>Aag		spectrin, alpha, non-erythrocytic 1							64.0	62.0	63.0					9																	131356647		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131356647C>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3409C>A	9.37:g.131356647C>A	ENSP00000361816:p.Gln1137Lys		Somatic				SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1137K	p.Q1137K			WXS	Illumina GAIIx	Phase_I	Q13813	SPTA2_HUMAN			24	3522	+			1137					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3409C>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637314	0.67130	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.48201	0.82;0.82;0.82	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.58354	1.805	0.80722	D	1	P;P;B;P;P	0.44776	0.843;0.843;0.021;0.811;0.843	P;P;B;P;D	0.64506	0.893;0.893;0.012;0.879;0.926	T	0.55386	-0.8149	10	0.23891	T	0.37	.	20.1384	0.98044	0.0:1.0:0.0:0.0	.	1137;1117;1117;1137;1137	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	1137;1137;1137;1117	ENSP00000350882:Q1137K;ENSP00000361816:Q1137K;ENSP00000361824:Q1137K	ENSP00000350882:Q1137K	Q	+	1	0	SPTAN1	130396468	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.410000	0.80065	2.754000	0.94517	0.651000	0.88453	CAG		0.418	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	51	4	51	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138683669	138683669	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:138683669C>A	ENST00000263604.3	+	30	3514	c.3514C>A	c.(3514-3516)Ctc>Atc	p.L1172I	KCNT1_ENST00000298480.5_Missense_Mutation_p.L1198I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1172					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)		CCAGAACACCCTCTCCTACGT	0.647																																						ENST00000298480.5																			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.(3592-3594)Ctc>Atc		potassium channel, subfamily T, member 1							163.0	144.0	151.0					9																	138683669		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138683669C>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.3514C>A	9.37:g.138683669C>A	ENSP00000263604:p.Leu1172Ile		Somatic				KCNT1_ENST00000263604.3_Missense_Mutation_p.L1172I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I	p.L1198I			WXS	Illumina GAIIx	Phase_I	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	31	3666	+		Myeloproliferative disorder(178;0.0821)	1177					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.3592C>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.398786	0.25291	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.28666	1.69;1.63;1.6;1.66	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000004	T	0.21761	0.0524	N	0.25144	0.715	0.44685	D	0.997672	B;B;B	0.27679	0.185;0.034;0.058	B;B;B	0.34138	0.176;0.081;0.169	T	0.08680	-1.0710	10	0.44086	T	0.13	-43.556	6.832	0.23915	0.0:0.7819:0.0:0.2181	.	1165;1177;1153	C9JYL2;B9EGP2;G5E9V0	.;.;.	I	1153;1198;1177;1157;1165;1179;1177;1172	ENSP00000417851:L1153I;ENSP00000298480:L1198I;ENSP00000360822:L1177I;ENSP00000263604:L1172I	ENSP00000263604:L1172I	L	+	1	0	KCNT1	137823490	0.269000	0.24143	0.651000	0.29564	0.132000	0.20833	0.848000	0.27710	2.438000	0.82558	0.655000	0.94253	CTC		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		6	103	6	103	---	---	---	---
CCNY	219771	broad.mit.edu	37	10	35854950	35854950	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:35854950G>T	ENST00000374704.4	+	9	926		c.e9-1		CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000374706.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGCTTTGCAGGAACGAGCTA	0.473																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.e9-1		cyclin Y							132.0	121.0	124.0					10																	35854950		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35854950G>T	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.747-1G>T	10.37:g.35854950G>T			Somatic				CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site		NM_145012.4	NP_659449.3	WXS	Illumina GAIIx	Phase_I	Q8ND76	CCNY_HUMAN			9	926	+								B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37		CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740407	0.89573	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3595	0.94431	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNY	35894956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.826000	0.99387	2.590000	0.87494	0.655000	0.94253	.		0.473	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Intron	6	101	6	101	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70641864	70641864	+	Missense_Mutation	SNP	C	C	A	rs367982047		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:70641864C>A	ENST00000298596.6	+	2	544	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	154						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAACATTACCCAGGTAGAGTA	0.343																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(460-462)cCa>cAa		storkhead box 1							102.0	91.0	95.0					10																	70641864		1832	4079	5911	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641864C>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.461C>A	10.37:g.70641864C>A	ENSP00000298596:p.Pro154Gln		Somatic				STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	p.P154Q	NM_152709.4	NP_689922.3	WXS	Illumina GAIIx	Phase_I	Q6ZVD7	STOX1_HUMAN			2	544	+			154					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.461C>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618696	0.87460	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.161166	0.41712	U	0.000823	D	0.88254	0.6387	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.989	D	0.88947	0.3384	10	0.66056	D	0.02	.	15.3903	0.74739	0.0:0.8612:0.1388:0.0	.	154;154;154	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	Q	154;154;154;154;44	ENSP00000382121:P154Q;ENSP00000298596:P154Q;ENSP00000382118:P154Q;ENSP00000382115:P154Q;ENSP00000394509:P44Q	ENSP00000298596:P154Q	P	+	2	0	STOX1	70311870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.890000	0.69774	2.779000	0.95612	0.591000	0.81541	CCA		0.343	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		5	89	5	89	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73571187	73571187	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:73571187C>A	ENST00000224721.6	+	62	9213	c.9208C>A	c.(9208-9210)Ctg>Atg	p.L3070M	CDH23_ENST00000398788.3_Missense_Mutation_p.L825M|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3065					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATGTCTGCCCTGCAGGTACC	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9208-9210)Ctg>Atg		cadherin-related 23							55.0	63.0	60.0					10																	73571187		2091	4195	6286	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571187C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9208C>A	10.37:g.73571187C>A	ENSP00000224721:p.Leu3070Met		Somatic				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.L825M	p.L3070M	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			62	9213	+			3065					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9208C>A		.	.	.	.	.	.	.	.	.	.	C	19.10	3.761938	0.69763	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60171	0.21	5.51	4.6	0.57074	.	0.000000	0.64402	D	0.000009	T	0.60560	0.2278	L	0.54323	1.7	0.53688	D	0.999976	D;D	0.57899	0.981;0.981	P;P	0.51193	0.662;0.662	T	0.64106	-0.6485	10	0.66056	D	0.02	.	11.565	0.50800	0.0:0.8068:0.1237:0.0695	.	3065;3065	E9PEX1;Q9H251	.;CAD23_HUMAN	M	3070;3065;3068;825	ENSP00000381768:L825M	ENSP00000224721:L3070M	L	+	1	2	CDH23	73241193	0.984000	0.35163	1.000000	0.80357	0.812000	0.45895	2.677000	0.46892	2.601000	0.87937	0.555000	0.69702	CTG		0.642	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	49	5	49	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75104886	75104886	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:75104886G>T	ENST00000310715.3	-	6	666	c.546C>A	c.(544-546)tcC>tcA	p.S182S	TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000401621.2_Silent_p.S182S|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		182						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGAATGAAGGATTCAGGCA	0.478																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(544-546)tcC>tcA		tetratricopeptide repeat domain 18							192.0	176.0	181.0					10																	75104886		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75104886G>T																												ENST00000310715.3:c.546C>A	10.37:g.75104886G>T			Somatic				TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.S182S|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000493787.1_5'UTR	p.S182S	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			6	666	-	Prostate(51;0.0119)		182					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.546C>A	CCDS7324.3																																																																																				0.478	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	231	8	231	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070925	81070925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:81070925C>A	ENST00000334512.5	+	24	3652	c.3080C>A	c.(3079-3081)cCg>cAg	p.P1027Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1027					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCGACATGCCGGAGCCTTCG	0.677																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3079-3081)cCg>cAg		zinc finger, MIZ-type containing 1							63.0	68.0	66.0					10																	81070925		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070925C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3080C>A	10.37:g.81070925C>A	ENSP00000334474:p.Pro1027Gln		Somatic				ZMIZ1_ENST00000446377.2_Intron	p.P1027Q	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3652	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1027					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.3080C>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032597	0.75504	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.34275	1.37	4.56	3.66	0.41972	.	0.000000	0.41396	D	0.000888	T	0.55386	0.1917	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.59198	-0.7499	10	0.87932	D	0	-14.3744	13.0034	0.58690	0.0:0.9205:0.0:0.0795	.	1027	Q9ULJ6	ZMIZ1_HUMAN	Q	1027;957;928	ENSP00000334474:P1027Q	ENSP00000334474:P1027Q	P	+	2	0	ZMIZ1	80740931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	1.044000	0.40200	0.491000	0.48974	CCG		0.677	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	124	5	124	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768686	90768686	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:90768686C>A	ENST00000355279.2	+	4	375	c.375C>A	c.(373-375)acC>acA	p.T125T	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T|FAS_ENST00000352159.4_Silent_p.T125T			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CCCAGAATACCAAGTGCAGAT	0.363																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(373-375)acC>acA		Fas cell surface death receptor							291.0	319.0	309.0					10																	90768686		2203	4300	6503	SO:0001819	synonymous_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768686C>A	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.375C>A	10.37:g.90768686C>A			Somatic				FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T125T|FAS_ENST00000355279.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T	p.T125T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	WXS	Illumina GAIIx	Phase_I	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	595	+		Colorectal(252;0.0161)	125					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000355279.2	37	c.375C>A	CCDS7395.1																																																																																				0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			9	545	9	545	---	---	---	---
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(40-42)tGg>tTg		centrosomal protein 55kDa							110.0	123.0	118.0					10																	95259849		2202	4300	6502	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95259849G>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.41G>T	10.37:g.95259849G>T	ENSP00000360540:p.Trp14Leu		Somatic					p.W14L	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			2	345	+		Colorectal(252;0.207)	14					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.41G>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782884	0.31502	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.14391	2.51	5.24	4.29	0.51040	.	0.071307	0.64402	D	0.000016	T	0.09818	0.0241	L	0.38838	1.175	0.38709	D	0.953172	P	0.37015	0.578	B	0.29267	0.1	T	0.25710	-1.0124	10	0.20519	T	0.43	-5.7409	13.8866	0.63712	0.0:0.0:0.8488:0.1512	.	14	Q53EZ4	CEP55_HUMAN	L	14	ENSP00000360540:W14L	ENSP00000351102:W14L	W	+	2	0	CEP55	95249839	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.958000	0.49145	2.614000	0.88457	0.557000	0.71058	TGG		0.318	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		7	242	7	242	---	---	---	---
CC2D2B	387707	broad.mit.edu	37	10	97791669	97791669	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:97791669C>A	ENST00000344386.3	+	9	1037	c.873C>A	c.(871-873)ccC>ccA	p.P291P	ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGAATTTCCCCAGACAGAAT	0.393																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(871-873)ccC>ccA		coiled-coil and C2 domain containing 2B							165.0	147.0	153.0					10																	97791669		1857	4103	5960	SO:0001819	synonymous_variant	387707							g.chr10:97791669C>A	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.873C>A	10.37:g.97791669C>A			Somatic				ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	p.P291P	NM_001001732.3	NP_001001732.2	WXS	Illumina GAIIx	Phase_I	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	9	1037	+		Colorectal(252;0.158)	291					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.873C>A	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365194	0.61513	.	.	ENSG00000188649	ENST00000410012	.	.	.	6.04	-0.0608	0.13788	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54450	-0.8292	5	0.87932	D	0	.	2.6451	0.04982	0.1187:0.5023:0.115:0.2641	.	.	.	.	H	371	.	ENSP00000386988:P371H	P	+	2	0	CC2D2B	97781659	0.380000	0.25131	0.995000	0.50966	0.901000	0.52897	-0.287000	0.08388	-0.046000	0.13446	0.563000	0.77884	CCC		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		6	121	6	121	---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101120619	101120619	+	Missense_Mutation	SNP	C	C	A	rs150442293		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:101120619C>A	ENST00000356713.4	+	3	2034	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	582					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAGAGGGTCCCGCAACGGGAG	0.527																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1744-1746)cCg>cAg		cyclin M1							134.0	140.0	138.0					10																	101120619		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120619C>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1745C>A	10.37:g.101120619C>A	ENSP00000349147:p.Pro582Gln		Somatic				CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	p.P582Q	NM_020348.2	NP_065081.2	WXS	Illumina GAIIx	Phase_I	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2034	+		Colorectal(252;0.234)	582					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1745C>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177586	0.57692	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.82619	-1.63;-1.63;-1.62;-0.63	5.74	4.84	0.62591	.	0.055147	0.85682	D	0.000000	T	0.81740	0.4886	L	0.36672	1.1	0.43756	D	0.996269	P;P;B;B	0.42692	0.769;0.787;0.154;0.298	B;P;B;B	0.53266	0.304;0.722;0.039;0.252	T	0.77593	-0.2530	10	0.23302	T	0.38	-5.7218	10.1723	0.42917	0.1366:0.793:0.0:0.0704	.	217;582;217;582	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	Q	582;511;511;217;35	ENSP00000349147:P582Q;ENSP00000406492:P511Q;ENSP00000359559:P511Q;ENSP00000359565:P217Q	ENSP00000349147:P582Q	P	+	2	0	CNNM1	101110609	0.991000	0.36638	0.800000	0.32199	0.877000	0.50540	3.228000	0.51270	1.431000	0.47355	0.655000	0.94253	CCG		0.527	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		5	216	5	216	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103897727	103897727	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:103897727G>T	ENST00000278070.2	+	2	313	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACTGCTGGGGACCATGCA	0.547																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(274-276)Ggg>Tgg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							114.0	101.0	105.0					10																	103897727		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103897727G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.274G>T	10.37:g.103897727G>T	ENSP00000278070:p.Gly92Trp		Somatic				PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	p.G92W	NM_015062.3	NP_055877.3	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	313	+		Colorectal(252;0.122)	92					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.274G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428682	0.62844	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.31769	1.48;1.48	5.19	5.19	0.71726	.	0.437819	0.21865	N	0.067972	T	0.44138	0.1279	N	0.24115	0.695	0.35051	D	0.760661	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.56541	-0.7962	10	0.87932	D	0	.	18.7678	0.91880	0.0:0.0:1.0:0.0	.	92;92	E7EVG6;Q5VV67	.;PPRC1_HUMAN	W	92	ENSP00000278070:G92W;ENSP00000399743:G92W	ENSP00000278070:G92W	G	+	1	0	PPRC1	103887717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.611000	0.88343	0.555000	0.69702	GGG		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	60	5	60	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104165148	104165148	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:104165148C>A	ENST00000020673.5	-	12	2807	c.2281G>T	c.(2281-2283)Ggg>Tgg	p.G761W	PSD_ENST00000406432.1_Missense_Mutation_p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	761	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACCAGGGCCCCGTGCTTGTAG	0.662																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2281-2283)Ggg>Tgg		pleckstrin and Sec7 domain containing							80.0	86.0	84.0					10																	104165148		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104165148C>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2281G>T	10.37:g.104165148C>A	ENSP00000020673:p.Gly761Trp		Somatic				PSD_ENST00000406432.1_Missense_Mutation_p.G761W	p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	12	2807	-			761			PH.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2281G>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418965	0.83559	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.76709	-1.04;-1.04	4.21	4.21	0.49690	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93981	0.7258	10	0.87932	D	0	.	16.7445	0.85468	0.0:1.0:0.0:0.0	.	761;664	A5PKW4;Q86YI3	PSD1_HUMAN;.	W	761;664;761	ENSP00000020673:G761W;ENSP00000384830:G761W	ENSP00000020673:G761W	G	-	1	0	PSD	104155138	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.723000	0.68492	2.178000	0.69098	0.561000	0.74099	GGG		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	188	7	188	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815721	105815721	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:105815721C>A	ENST00000353479.5	-	18	1796	c.1506G>T	c.(1504-1506)ctG>ctT	p.L502L	COL17A1_ENST00000369733.3_Silent_p.L502L|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	502	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATCCTCTCCAGCTCATCCA	0.602																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1504-1506)ctG>ctT		collagen, type XVII, alpha 1							139.0	112.0	121.0					10																	105815721		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105815721C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1506G>T	10.37:g.105815721C>A			Somatic				COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.L502L	p.L502L	NM_000494.3	NP_000485.3	WXS	Illumina GAIIx	Phase_I	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	1796	-		Colorectal(252;0.103)|Breast(234;0.122)	502			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.1506G>T	CCDS7554.1																																																																																				0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	159	6	159	---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126714705	126714705	+	Intron	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:126714705C>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Missense_Mutation_p.A542S|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTGCGCCGGGCCACCTTCTGG	0.682																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1624-1626)Gcc>Tcc		C-terminal binding protein 2							89.0	90.0	90.0					10																	126714705		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126714705C>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12860G>T	10.37:g.126714705C>A			Somatic				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	p.A542S	NM_022802.2	NP_073713.2	WXS	Illumina GAIIx	Phase_I	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1754	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1624G>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116641	0.37339	.	.	ENSG00000175029	ENST00000309035	D	0.81908	-1.55	5.29	5.29	0.74685	.	0.625388	0.14906	N	0.291509	T	0.72358	0.3450	.	.	.	0.80722	D	1	B	0.23377	0.084	B	0.18561	0.022	T	0.66296	-0.5959	9	0.31617	T	0.26	.	7.2221	0.25994	0.0:0.7923:0.0:0.2077	.	542	P56545-2	.	S	542	ENSP00000311825:A542S	ENSP00000311825:A542S	A	-	1	0	CTBP2	126704695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.014000	0.70784	2.642000	0.89623	0.591000	0.81541	GCC		0.682	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		7	156	7	156	---	---	---	---
KRTAP5-6	440023	broad.mit.edu	37	11	1718821	1718821	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:1718821C>A	ENST00000382160.1	+	1	397	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	116						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTGTTCCCAGGCCAGCTG	0.577																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(346-348)Cag>Aag		keratin associated protein 5-6							119.0	132.0	128.0					11																	1718821		2202	4299	6501	SO:0001583	missense	440023					keratin filament		g.chr11:1718821C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.346C>A	11.37:g.1718821C>A	ENSP00000371595:p.Gln116Lys		Somatic					p.Q116K	NM_001012416.1	NP_001012416.1	WXS	Illumina GAIIx	Phase_I	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	397	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	116					A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.346C>A	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	c	1.127	-0.653508	0.03480	.	.	ENSG00000205864	ENST00000382160	T	0.08193	3.12	3.8	1.81	0.25067	.	.	.	.	.	T	0.08133	0.0203	M	0.75264	2.295	0.20638	N	0.999871	P	0.37573	0.6	B	0.33690	0.168	T	0.30119	-0.9989	9	0.05959	T	0.93	.	6.4747	0.22028	0.2088:0.5889:0.2023:0.0	.	116	Q6L8G9	KRA56_HUMAN	K	116	ENSP00000371595:Q116K	ENSP00000371595:Q116K	Q	+	1	0	KRTAP5-6	1675397	0.002000	0.14202	0.173000	0.22940	0.034000	0.12701	0.345000	0.19979	0.098000	0.17522	0.418000	0.28097	CAG		0.577	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			6	191	6	191	---	---	---	---
OR10A6	390093	broad.mit.edu	37	11	7950138	7950138	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:7950138C>A	ENST00000309838.2	-	1	71	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCCCCTGGAGCTCAG	0.433																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(70-72)caG>caT		olfactory receptor, family 10, subfamily A, member 6							64.0	67.0	66.0					11																	7950138		2201	4295	6496	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950138C>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.72G>T	11.37:g.7950138C>A	ENSP00000312470:p.Gln24His		Somatic					p.Q24H	NM_001004461.1	NP_001004461.1	WXS	Illumina GAIIx	Phase_I	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	71	-			24					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.72G>T	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035266	0.19590	.	.	ENSG00000175393	ENST00000309838	T	0.00601	6.29	4.4	-4.45	0.03546	.	0.170367	0.27384	N	0.019608	T	0.01124	0.0037	M	0.74647	2.275	0.09310	N	0.999999	D	0.60160	0.987	P	0.57204	0.815	T	0.35773	-0.9775	10	0.66056	D	0.02	.	4.1845	0.10392	0.2409:0.2686:0.0:0.4905	.	24	Q8NH74	O10A6_HUMAN	H	24	ENSP00000312470:Q24H	ENSP00000312470:Q24H	Q	-	3	2	OR10A6	7906714	0.000000	0.05858	0.918000	0.36340	0.006000	0.05464	-1.049000	0.03514	-0.547000	0.06207	-0.827000	0.03088	CAG		0.433	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		5	73	5	73	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8159831	8159831	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:8159831G>T	ENST00000309737.6	-	3	414	c.415C>A	c.(415-417)Cac>Aac	p.H139N	RIC3_ENST00000343202.4_Missense_Mutation_p.H139N|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000335425.7_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	139					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.H139N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTTTCCTGTGGGTGTTTCCA	0.433																																						ENST00000343202.4																			1	Substitution - Missense(1)	p.H139N(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(415-417)Cac>Aac		RIC3 acetylcholine receptor chaperone							285.0	277.0	280.0					11																	8159831		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159831G>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.415C>A	11.37:g.8159831G>T	ENSP00000308820:p.His139Asn		Somatic				RIC3_ENST00000309737.6_Missense_Mutation_p.H139N|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000335425.7_Intron	p.H139N	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	WXS	Illumina GAIIx	Phase_I	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	480	-			139					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.415C>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489668	0.26686	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.78	3.74	0.42951	.	0.393919	0.26546	N	0.023777	T	0.21186	0.0510	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.25169	0.002;0.119;0.001;0.001	B;B;B;B	0.17722	0.003;0.019;0.001;0.001	T	0.04961	-1.0915	10	0.19590	T	0.45	.	8.6332	0.33933	0.0857:0.0:0.7066:0.2076	.	139;139;139;139	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	N	139;139;139;90;139;139	ENSP00000344904:H139N;ENSP00000308820:H139N;ENSP00000443871:H90N;ENSP00000395320:H139N;ENSP00000431658:H139N	ENSP00000308820:H139N	H	-	1	0	RIC3	8116407	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.421000	0.44688	1.453000	0.47775	0.609000	0.83330	CAC		0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		7	310	7	310	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9878189	9878189	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:9878189G>T	ENST00000256190.8	-	19	2316	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	727					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACTTGCTCAGGGTAGGCCAA	0.463																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2179-2181)Ctg>Atg		SET binding factor 2							259.0	237.0	244.0					11																	9878189		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878189G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2179C>A	11.37:g.9878189G>T	ENSP00000256190:p.Leu727Met		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.L727M	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	19	2316	-			727					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2179C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.095688	0.76870	.	.	ENSG00000133812	ENST00000256190	T	0.47177	0.85	5.25	5.25	0.73442	.	0.376057	0.27500	N	0.019090	T	0.57242	0.2040	L	0.41573	1.285	0.80722	D	1	P	0.51240	0.943	P	0.59221	0.854	T	0.47420	-0.9119	10	0.25106	T	0.35	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	727	Q86WG5	MTMRD_HUMAN	M	727	ENSP00000256190:L727M	ENSP00000256190:L727M	L	-	1	2	SBF2	9834765	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.675000	0.74493	2.615000	0.88500	0.457000	0.33378	CTG		0.463	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		8	301	8	301	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33564582	33564582	+	Silent	SNP	C	C	A	rs376968439		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:33564582C>A	ENST00000321505.4	+	1	762	c.582C>A	c.(580-582)ccC>ccA	p.P194P	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	194						integral component of membrane (GO:0016021)											GGGCGGTTCCCGCATCACCAT	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(580-582)ccC>ccA		KIAA1549-like							139.0	138.0	138.0					11																	33564582		2019	4162	6181	SO:0001819	synonymous_variant	25758							g.chr11:33564582C>A	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.582C>A	11.37:g.33564582C>A			Somatic	OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P	p.P194P			WXS	Illumina GAIIx	Phase_I					1	762	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.582C>A	CCDS44565.2																																																																																				0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		6	192	6	192	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44165856	44165856	+	Intron	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:44165856C>A	ENST00000343631.3	+	7	1302				EXT2_ENST00000358681.4_Silent_p.S411S|EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2						carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAATGAACTCCCTGATCTGGC	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000358681.4			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1231-1233)tcC>tcA		exostosin glycosyltransferase 2							196.0	183.0	187.0					11																	44165856		876	1990	2866	SO:0001627	intron_variant	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44165856C>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1173+14168C>A	11.37:g.44165856C>A			Somatic				EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron	p.S411S	NM_001178083.1	NP_001171554.1	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			8	1399	+			405					B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.1233C>A	CCDS7908.1																																																																																				0.478	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		7	136	7	136	---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47657103	47657103	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:47657103C>A	ENST00000302503.3	-	4	457	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MTCH2_ENST00000542981.1_De_novo_Start_OutOfFrame	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	100					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATACCTCACCCTTGTCACTCT	0.403																																						ENST00000542981.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11								mitochondrial carrier 2							196.0	160.0	172.0					11																	47657103		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47657103C>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.300G>T	11.37:g.47657103C>A	ENSP00000303222:p.Lys100Asn		Somatic				MTCH2_ENST00000302503.3_Missense_Mutation_p.K100N				WXS	Illumina GAIIx	Phase_I	Q9Y6C9	MTCH2_HUMAN			0	368	-								B2R7L8	Translation_Start_Site	SNP	ENST00000302503.3	37		CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391146	0.25118	.	.	ENSG00000109919	ENST00000302503;ENST00000530558	T	0.50001	0.76	4.76	2.27	0.28462	Mitochondrial carrier domain (2);	0.430984	0.26338	N	0.024942	T	0.23171	0.0560	N	0.17082	0.46	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.04708	-1.0932	10	0.15066	T	0.55	.	3.2977	0.06971	0.1928:0.5422:0.0:0.265	.	100	Q9Y6C9	MTCH2_HUMAN	N	100;79	ENSP00000303222:K100N	ENSP00000303222:K100N	K	-	3	2	MTCH2	47613679	0.218000	0.23608	0.547000	0.28179	0.876000	0.50452	0.397000	0.20883	0.879000	0.35944	0.561000	0.74099	AAG		0.403	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		5	72	5	72	---	---	---	---
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000346437.4_Silent_p.P512P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1753-1755)ccC>ccA		CD6 molecule							65.0	69.0	67.0					11																	60785403		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785403C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1755C>A	11.37:g.60785403C>A			Somatic				CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P	p.P585P	NM_006725.4	NP_006716.3	WXS	Illumina GAIIx	Phase_I	P30203	CD6_HUMAN			11	1941	+			585					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1755C>A	CCDS7999.1																																																																																				0.582	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		6	112	6	112	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287973	62287973	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62287973G>T	ENST00000378024.4	-	5	14190	c.13916C>A	c.(13915-13917)cCa>cAa	p.P4639Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4639					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCTGGGACATCAAT	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13915-13917)cCa>cAa		AHNAK nucleoprotein							157.0	160.0	159.0					11																	62287973		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287973G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13916C>A	11.37:g.62287973G>T	ENSP00000367263:p.Pro4639Gln		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4639Q	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	14190	-		Melanoma(852;0.155)	4639					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13916C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688628	0.48097	.	.	ENSG00000124942	ENST00000378024	T	0.02916	4.11	5.4	5.4	0.78164	.	0.000000	0.48286	D	0.000185	T	0.29061	0.0722	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50558	-0.8814	10	0.39692	T	0.17	-8.7094	18.8465	0.92209	0.0:0.0:1.0:0.0	.	4639	Q09666	AHNK_HUMAN	Q	4639	ENSP00000367263:P4639Q	ENSP00000367263:P4639Q	P	-	2	0	AHNAK	62044549	1.000000	0.71417	0.985000	0.45067	0.154000	0.21943	7.473000	0.81007	2.537000	0.85549	0.638000	0.83543	CCA		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	314	8	314	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299931	62299931	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62299931G>T	ENST00000378024.4	-	5	2232	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	653					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCCTTTGGGTAGAGTCAT	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1957-1959)cCc>cAc		AHNAK nucleoprotein							126.0	126.0	126.0					11																	62299931		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299931G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1958C>A	11.37:g.62299931G>T	ENSP00000367263:p.Pro653His		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P653H	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2232	-		Melanoma(852;0.155)	653					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1958C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993741	0.35131	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.39	4.45	0.53987	.	.	.	.	.	T	0.40372	0.1114	H	0.97659	4.05	0.25881	N	0.983593	D	0.89917	1.0	D	0.91635	0.999	T	0.54351	-0.8307	9	0.66056	D	0.02	-3.9406	14.9036	0.70699	0.0:0.0:0.8553:0.1447	.	653	Q09666	AHNK_HUMAN	H	653	ENSP00000367263:P653H	ENSP00000367263:P653H	P	-	2	0	AHNAK	62056507	0.983000	0.35010	0.366000	0.25914	0.220000	0.24768	4.189000	0.58358	1.226000	0.43582	0.305000	0.20034	CCC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	189	7	189	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377890.2	+	5	1033	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.D320N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(958-960)Gat>Aat		solute carrier family 3 (amino acid transporter heavy chain), member 2							108.0	101.0	103.0					11																	62649502		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62649502G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.865G>A	11.37:g.62649502G>A	ENSP00000367122:p.Asp289Asn		Somatic				SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N	p.D320N			WXS	Illumina GAIIx	Phase_I	P08195	4F2_HUMAN			6	1182	+			289	S -> F (in Ref. 5; AAA35489).				Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.958G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034530	0.93575	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000539458;ENST00000422606	D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	5.53	5.53	0.82687	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.278145	0.40640	N	0.001048	D	0.99086	0.9686	M	0.90145	3.09	0.41923	D	0.990526	P;P;P;P;P	0.52692	0.955;0.9;0.87;0.91;0.911	P;P;P;P;P	0.54238	0.49;0.458;0.7;0.58;0.746	D	0.99257	1.0889	10	0.72032	D	0.01	-9.5141	12.6852	0.56944	0.0:0.1657:0.8343:0.0	.	227;258;289;188;320	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	N	320;290;289;290;227;258;188;144;170	ENSP00000367124:D320N;ENSP00000367123:D290N;ENSP00000367122:D289N;ENSP00000367121:D227N;ENSP00000444236:D258N;ENSP00000340815:D188N;ENSP00000438032:D144N	ENSP00000340815:D188N	D	+	1	0	SLC3A2	62406078	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	1.940000	0.40223	2.605000	0.88082	0.655000	0.94253	GAT		0.488	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		19	65	19	65	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64537847	64537847	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:64537847C>A	ENST00000377390.3	-	4	607	c.270G>T	c.(268-270)gaG>gaT	p.E90D	SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_De_novo_Start_OutOfFrame|SF1_ENST00000334944.5_Missense_Mutation_p.E90D	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	90					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCCGCTTCCCCTCGCTATTGT	0.532																																						ENST00000422298.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31								splicing factor 1							98.0	99.0	99.0					11																	64537847		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537847C>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.270G>T	11.37:g.64537847C>A	ENSP00000366607:p.Glu90Asp		Somatic				SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000334944.5_Missense_Mutation_p.E90D|SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000377390.3_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D				WXS	Illumina GAIIx	Phase_I	Q15637	SF01_HUMAN			0	570	-								B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Translation_Start_Site	SNP	ENST00000377390.3	37		CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599695	0.28534	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.43688	0.95;0.95;0.96;0.96;0.94;0.95	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.11064	0.09	0.80722	D	1	B;B;B;B;B	0.19073	0.019;0.019;0.007;0.011;0.033	B;B;B;B;B	0.17433	0.018;0.01;0.008;0.018;0.018	T	0.14980	-1.0453	10	0.12103	T	0.63	.	10.9232	0.47178	0.0:0.9153:0.0:0.0847	.	90;90;90;90;215	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	D	215;90;90;90;90;64	ENSP00000366604:E215D;ENSP00000366607:E90D;ENSP00000227503:E90D;ENSP00000366611:E90D;ENSP00000334414:E90D;ENSP00000396793:E64D	ENSP00000227503:E90D	E	-	3	2	SF1	64294423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.764000	0.55264	2.748000	0.94277	0.462000	0.41574	GAG		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		6	108	6	108	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76169379	76169379	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:76169379C>A	ENST00000529032.1	+	4	398	c.398C>A	c.(397-399)cCt>cAt	p.P133H	C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	133	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTTCCAGTGCCTGCAGAAACA	0.423																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(397-399)cCt>cAt		chromosome 11 open reading frame 30							85.0	83.0	84.0					11																	76169379		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76169379C>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.398C>A	11.37:g.76169379C>A	ENSP00000432327:p.Pro133His		Somatic				C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H	p.P133H			WXS	Illumina GAIIx	Phase_I	Q7Z589	EMSY_HUMAN			4	398	+			133			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.398C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733836	0.69189	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.64404	1.975	0.80722	D	1	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;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.997;0.999;0.997;0.997;0.997;0.99	T	0.78804	-0.2060	9	0.66056	D	0.02	-7.2132	20.1133	0.97917	0.0:1.0:0.0:0.0	.	147;147;147;133;133;133;133;133;133	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	H	133;133;133;133;147;147;133;147;133	.	ENSP00000334130:P133H	P	+	2	0	C11orf30	75847027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	CCT		0.423	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	79	5	79	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77051799	77051799	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:77051799C>A	ENST00000356341.3	-	11	1539	c.1008G>T	c.(1006-1008)gtG>gtT	p.V336V	PAK1_ENST00000528203.1_Silent_p.V238V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Silent_p.V336V	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GCTCATCTCCCACGAGGTAAC	0.468																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(1006-1008)gtG>gtT		p21 protein (Cdc42/Rac)-activated kinase 1							226.0	205.0	212.0					11																	77051799		2200	4292	6492	SO:0001819	synonymous_variant	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77051799C>A	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1008G>T	11.37:g.77051799C>A			Somatic				PAK1_ENST00000530617.1_Silent_p.V336V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Silent_p.V238V	p.V336V	NM_002576.4	NP_002567.3	WXS	Illumina GAIIx	Phase_I	Q13153	PAK1_HUMAN			11	1539	-	all_cancers(14;1.75e-18)		336			Protein kinase.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	ENST00000356341.3	37	c.1008G>T	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476256	0.26511	.	.	ENSG00000149269	ENST00000533285	.	.	.	5.81	3.96	0.45880	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50566	-0.8813	4	.	.	.	.	6.2252	0.20703	0.0:0.6356:0.1355:0.2289	.	.	.	.	W	58	.	.	G	-	1	0	PAK1	76729447	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	0.659000	0.24994	0.817000	0.34445	0.557000	0.71058	GGG		0.468	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	253	7	253	---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86086224	86086224	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:86086224C>A	ENST00000445632.2	+	1	291	c.19C>A	c.(19-21)Cgt>Agt	p.R7S	CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000278487.3_De_novo_Start_OutOfFrame	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	7										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TACGATCGCCCGTGCCCTGCA	0.547																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20								coiled-coil domain containing 81							132.0	137.0	135.0					11																	86086224		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86086224C>A	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.19C>A	11.37:g.86086224C>A	ENSP00000415528:p.Arg7Ser		Somatic				CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000445632.2_Missense_Mutation_p.R7S				WXS	Illumina GAIIx	Phase_I	Q6ZN84	CCD81_HUMAN			0	447	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)						A0AVL7|Q53FW3|Q9H5E5	Translation_Start_Site	SNP	ENST00000445632.2	37		CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316064	0.23908	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T	0.42513	0.99;0.97	3.54	3.54	0.40534	.	0.534254	0.15421	N	0.263242	T	0.24661	0.0598	N	0.14661	0.345	0.43039	D	0.994621	B;B	0.26512	0.005;0.151	B;B	0.25987	0.01;0.065	T	0.06698	-1.0812	9	.	.	.	-3.9393	10.9129	0.47118	0.0:1.0:0.0:0.0	.	7;7	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	S	7	ENSP00000346800:R7S;ENSP00000415528:R7S	.	R	+	1	0	CCDC81	85763872	0.000000	0.05858	0.018000	0.16275	0.009000	0.06853	0.453000	0.21811	2.291000	0.77112	0.655000	0.94253	CGT		0.547	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		7	234	7	234	---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102647391	102647391	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:102647391G>T	ENST00000279441.4	-	5	775	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	247					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGGCGGAACTGGGCGAGCTCT	0.498																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(739-741)Cag>Aag		matrix metallopeptidase 10 (stromelysin 2)							140.0	128.0	132.0					11																	102647391		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647391G>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.739C>A	11.37:g.102647391G>T	ENSP00000279441:p.Gln247Lys		Somatic					p.Q247K	NM_002425.2	NP_002416.1	WXS	Illumina GAIIx	Phase_I	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	775	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	247					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.739C>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	0.183	-1.060095	0.01950	.	.	ENSG00000166670	ENST00000279441	T	0.15952	2.38	4.31	-1.9	0.07665	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.593300	0.04077	N	0.308953	T	0.06142	0.0159	N	0.01473	-0.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	10	0.08179	T	0.78	.	10.9144	0.47126	0.0:0.1057:0.3005:0.5938	.	247	P09238	MMP10_HUMAN	K	247	ENSP00000279441:Q247K	ENSP00000279441:Q247K	Q	-	1	0	MMP10	102152601	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.878000	0.04192	-0.124000	0.11724	0.655000	0.94253	CAG		0.498	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			7	106	7	106	---	---	---	---
ACAT1	38	broad.mit.edu	37	11	108017036	108017036	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:108017036C>A	ENST00000265838.4	+	11	1204	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	371					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGATTGATCCCCAAAAAGTGA	0.363																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1111-1113)ccC>ccA		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						108.0	122.0	117.0					11																	108017036		2201	4298	6499	SO:0001819	synonymous_variant	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108017036C>A	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1113C>A	11.37:g.108017036C>A			Somatic					p.P371P	NM_000019.3	NP_000010.1	WXS	Illumina GAIIx	Phase_I	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	11	1204	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	371					B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	c.1113C>A	CCDS8339.1																																																																																				0.363	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		7	163	7	163	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111591264	111591264	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:111591264G>T	ENST00000304987.3	+	11	1731	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	520					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGATATGGGGTCTGTTCA	0.453																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1558-1560)Ggg>Tgg		salt-inducible kinase 2							114.0	114.0	114.0					11																	111591264		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111591264G>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1558G>T	11.37:g.111591264G>T	ENSP00000305976:p.Gly520Trp		Somatic				SIK2_ENST00000533868.1_3'UTR	p.G520W	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			11	1731	+			520					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1558G>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737081	0.89482	.	.	ENSG00000170145	ENST00000304987	T	0.74315	-0.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84776	0.0770	10	0.62326	D	0.03	.	19.2635	0.93977	0.0:0.0:1.0:0.0	.	520	Q9H0K1	SIK2_HUMAN	W	520	ENSP00000305976:G520W	ENSP00000305976:G520W	G	+	1	0	SIK2	111096474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.882000	0.98803	0.655000	0.94253	GGG		0.453	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		6	92	6	92	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310573	117310573	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:117310573C>A	ENST00000321322.6	-	22	4123	c.4122G>T	c.(4120-4122)gtG>gtT	p.V1374V	DSCAML1_ENST00000527706.1_Silent_p.V1104V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1314	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGATCTCCCACTGAATTGC	0.562																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4120-4122)gtG>gtT		Down syndrome cell adhesion molecule like 1							162.0	148.0	153.0					11																	117310573		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310573C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4122G>T	11.37:g.117310573C>A			Somatic				DSCAML1_ENST00000527706.1_Silent_p.V1104V	p.V1374V	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	22	4123	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1314			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4122G>T	CCDS8384.1																																																																																				0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	183	7	183	---	---	---	---
OAF	220323	broad.mit.edu	37	11	120096400	120096400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120096400G>T	ENST00000328965.4	+	2	775	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	88						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGATCCTGGGGGAGCTGGA	0.627																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(262-264)Ggg>Tgg		OAF homolog (Drosophila)							89.0	85.0	86.0					11																	120096400		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120096400G>T	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.262G>T	11.37:g.120096400G>T	ENSP00000332613:p.Gly88Trp		Somatic				OAF_ENST00000531220.1_Intron	p.G88W	NM_178507.2	NP_848602.1	WXS	Illumina GAIIx	Phase_I	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	2	775	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	88						Missense_Mutation	SNP	ENST00000328965.4	37	c.262G>T	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773161	0.90108	.	.	ENSG00000184232	ENST00000328965	T	0.55760	0.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79376	-0.1829	10	0.87932	D	0	-37.7341	18.6469	0.91413	0.0:0.0:1.0:0.0	.	88	Q86UD1	OAF_HUMAN	W	88	ENSP00000332613:G88W	ENSP00000332613:G88W	G	+	1	0	OAF	119601610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.392000	0.81423	0.561000	0.74099	GGG		0.627	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		5	98	5	98	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120776122	120776122	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120776122C>A	ENST00000527524.2	+	13	1683	c.1396C>A	c.(1396-1398)Cgc>Agc	p.R466S	GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	466					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTACAAGATCCGCCTGGTTGG	0.592																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1396-1398)Cgc>Agc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						153.0	151.0	152.0					11																	120776122		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776122C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1396C>A	11.37:g.120776122C>A	ENSP00000435648:p.Arg466Ser		Somatic				GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	p.R466S	NM_001282470.1	NP_001269399.1	WXS	Illumina GAIIx	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1683	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	466					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1396C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471305	0.63625	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11277	2.79;2.79	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.109261	0.64402	D	0.000005	T	0.17916	0.0430	L	0.51422	1.61	0.44890	D	0.997902	B;B	0.29301	0.241;0.14	B;B	0.38264	0.269;0.152	T	0.02868	-1.1100	10	0.34782	T	0.22	.	19.323	0.94250	0.0:1.0:0.0:0.0	.	466;466	A6H8K8;Q16099	.;GRIK4_HUMAN	S	466	ENSP00000435648:R466S;ENSP00000404063:R466S	ENSP00000404063:R466S	R	+	1	0	GRIK4	120281332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.810000	0.47979	2.561000	0.86390	0.655000	0.94253	CGC		0.592	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		6	193	6	193	---	---	---	---
PATE1	160065	broad.mit.edu	37	11	125617637	125617637	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:125617637C>A	ENST00000305738.5	+	4	179	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	56						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CTCCAGTTCCCAGGAGAAAAG	0.478																																						ENST00000305738.5																			0				large_intestine(1)|lung(5)	6						c.(166-168)cCa>cAa		prostate and testis expressed 1							102.0	94.0	97.0					11																	125617637		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125617637C>A	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.167C>A	11.37:g.125617637C>A	ENSP00000307164:p.Pro56Gln		Somatic				PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	p.P56Q	NM_138294.2	NP_612151.1	WXS	Illumina GAIIx	Phase_I	Q8WXA2	PATE1_HUMAN			4	179	+			56					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.167C>A	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.204918	0.22205	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.31769	1.48;1.48	4.19	4.19	0.49359	.	0.000000	0.37053	N	0.002279	T	0.34687	0.0906	N	0.20685	0.6	0.33530	D	0.593506	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.23797	-1.0178	10	0.21014	T	0.42	0.0329	12.3119	0.54933	0.0:1.0:0.0:0.0	.	44;56	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	Q	56;44	ENSP00000307164:P56Q;ENSP00000396056:P44Q	ENSP00000307164:P56Q	P	+	2	0	PATE1	125122847	0.998000	0.40836	0.857000	0.33713	0.037000	0.13140	2.595000	0.46197	2.617000	0.88574	0.655000	0.94253	CCA		0.478	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		6	86	6	86	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(940-942)aaG>aaT		signal recognition particle receptor (docking protein)							172.0	163.0	166.0					11																	126135967		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135967C>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.942G>T	11.37:g.126135967C>A	ENSP00000328023:p.Lys314Asn		Somatic				SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	p.K314N	NM_003139.3	NP_003130.2	WXS	Illumina GAIIx	Phase_I	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1096	-	all_hematologic(175;0.145)		314					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.942G>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920929	0.33908	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	4.34	0.51931	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.044190	0.85682	D	0.000000	T	0.52549	0.1741	L	0.48986	1.54	0.54753	D	0.999981	B;B	0.19935	0.01;0.04	B;B	0.18561	0.005;0.022	T	0.46665	-0.9175	9	0.20519	T	0.43	-15.7727	10.5179	0.44900	0.0:0.7979:0.0:0.2021	.	286;314	E9PJS4;P08240	.;SRPR_HUMAN	N	314;286	.	ENSP00000328023:K314N	K	-	3	2	SRPR	125641177	0.998000	0.40836	1.000000	0.80357	0.740000	0.42216	0.852000	0.27764	1.461000	0.47929	-0.136000	0.14681	AAG		0.493	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		7	188	7	188	---	---	---	---
APLP2	334	broad.mit.edu	37	11	130013260	130013260	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:130013260C>A	ENST00000263574.5	+	18	2281	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T|APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	737					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AATGCTCACCCCAGAAGAGCG	0.542																																						ENST00000263574.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2209-2211)Cca>Aca		amyloid beta (A4) precursor-like protein 2							143.0	124.0	130.0					11																	130013260		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130013260C>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.2209C>A	11.37:g.130013260C>A	ENSP00000263574:p.Pro737Thr		Somatic				APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T|APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T	p.P737T	NM_001642.2	NP_001633.1	WXS	Illumina GAIIx	Phase_I	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	18	2281	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	737					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.2209C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763285	0.89932	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.8	5.8	0.92144	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.982;0.997;1.0;1.0;0.999;0.966	D;D;D;D;D;D;P	0.97110	0.999;0.927;0.991;1.0;1.0;0.991;0.772	D	0.97794	1.0240	9	.	.	.	-9.0121	19.0512	0.93046	0.0:1.0:0.0:0.0	.	525;737;681;496;663;669;725	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	T	669;525;737;496;725;735;632	ENSP00000435914:P669T;ENSP00000443728:P525T;ENSP00000263574:P737T;ENSP00000263575:P496T;ENSP00000345444:P725T;ENSP00000278756:P735T;ENSP00000444122:P632T	.	P	+	1	0	APLP2	129518470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.735000	0.93741	0.655000	0.94253	CCA		0.542	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		6	101	6	101	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6204639	6204639	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6204639C>A	ENST00000261405.5	-	6	898	c.644G>T	c.(643-645)gGg>gTg	p.G215V	RN7SL69P_ENST00000468423.2_RNA|VWF_ENST00000572068.1_Missense_Mutation_p.G252V	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	215	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGCATTTCCCCAGAGGAGAT	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(643-645)gGg>gTg		von Willebrand factor	Antihemophilic Factor(DB00025)						154.0	151.0	152.0					12																	6204639		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6204639C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.644G>T	12.37:g.6204639C>A	ENSP00000261405:p.Gly215Val		Somatic				VWF_ENST00000572068.1_Missense_Mutation_p.G252V	p.G215V	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			6	898	-			215			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.644G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738065	0.15574	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.85	-2.88	0.05682	von Willebrand factor, type D domain (1);	0.891435	0.09284	N	0.823298	T	0.34687	0.0906	L	0.27053	0.805	0.35253	D	0.778884	B;B;D	0.89917	0.009;0.142;1.0	B;B;D	0.69307	0.022;0.022;0.963	T	0.55679	-0.8103	10	0.30854	T	0.27	.	2.4222	0.04451	0.1442:0.1522:0.1438:0.5598	.	215;252;215	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	V	215	ENSP00000261405:G215V	ENSP00000261405:G215V	G	-	2	0	VWF	6074900	0.000000	0.05858	0.486000	0.27416	0.257000	0.26127	-0.385000	0.07379	-0.160000	0.11002	0.462000	0.41574	GGG		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	111	7	111	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6637434	6637434	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6637434G>T	ENST00000315579.5	+	25	4038	c.3239G>T	c.(3238-3240)gGg>gTg	p.G1080V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1080					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTTGCCACTGGGGATCTGGCC	0.557																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3238-3240)gGg>gTg		non-SMC condensin I complex, subunit D2							223.0	227.0	225.0					12																	6637434		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637434G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3239G>T	12.37:g.6637434G>T	ENSP00000325017:p.Gly1080Val		Somatic				NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	p.G1080V	NM_014865.3	NP_055680.3	WXS	Illumina GAIIx	Phase_I	Q15021	CND1_HUMAN			25	4038	+			1080					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3239G>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998721	0.93227	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.24538	1.85;1.85	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.049002	0.85682	D	0.000000	T	0.61702	0.2368	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.66184	-0.5987	10	0.52906	T	0.07	-31.9423	20.0926	0.97825	0.0:0.0:1.0:0.0	.	1035;1041;1080	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	1080;1035	ENSP00000325017:G1080V;ENSP00000444417:G1035V	ENSP00000325017:G1080V	G	+	2	0	NCAPD2	6507695	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.415000	0.97375	2.745000	0.94114	0.561000	0.74099	GGG		0.557	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		7	199	7	199	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7293956	7293956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:7293956C>A	ENST00000266546.6	+	9	1892	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	CLSTN3_ENST00000537408.1_Missense_Mutation_p.P493Q	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	481					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCATCCACCCACCCCGAAGG	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1477-1479)cCa>cAa		calsyntenin 3							237.0	185.0	202.0					12																	7293956		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293956C>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1442C>A	12.37:g.7293956C>A	ENSP00000266546:p.Pro481Gln		Somatic	OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P481Q	p.P493Q			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			8	2016	+			481					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1478C>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641578	0.87859	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.02301	4.35;4.35	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.110120	0.64402	D	0.000006	T	0.11922	0.0290	M	0.68317	2.08	0.58432	D	0.999996	D;D	0.63880	0.97;0.993	P;D	0.71184	0.801;0.972	T	0.00172	-1.1958	10	0.72032	D	0.01	-23.2231	18.1243	0.89581	0.0:1.0:0.0:0.0	.	493;481	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	Q	481;493	ENSP00000266546:P481Q;ENSP00000440679:P493Q	ENSP00000266546:P481Q	P	+	2	0	CLSTN3	7185223	1.000000	0.71417	0.951000	0.38953	0.835000	0.47333	5.757000	0.68766	2.512000	0.84698	0.455000	0.32223	CCA		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	155	6	155	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:21965074C>A	ENST00000261201.4	-	34	4119	c.4120G>T	c.(4120-4122)Ggg>Tgg	p.G1374W	ABCC9_ENST00000261200.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATGTCTATCCCATCAATGACA	0.328																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(4120-4122)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						191.0	170.0	177.0					12																	21965074		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21965074C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4120G>T	12.37:g.21965074C>A	ENSP00000261201:p.Gly1374Trp		Somatic				ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	p.G1374W	NM_020297.2	NP_064693.2	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			34	4119	-			1374			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4120G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912084	0.72983	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98748	1.0719	10	0.87932	D	0	-14.0312	18.6957	0.91600	0.0:1.0:0.0:0.0	.	1374;1374	O60706;O60706-2	ABCC9_HUMAN;.	W	1374;1001;1374;1338	ENSP00000261200:G1374W;ENSP00000440521:G1001W;ENSP00000261201:G1374W;ENSP00000261202:G1338W	ENSP00000261200:G1374W	G	-	1	0	ABCC9	21856341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.353000	0.79414	2.665000	0.90641	0.650000	0.86243	GGG		0.328	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	111	5	111	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:45269642C>A	ENST00000429094.2	-	1	515	c.11G>T	c.(10-12)cGg>cTg	p.R4L	NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000395487.2_5'Flank	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517																																						ENST00000429094.2																			2	Substitution - Missense(2)	p.R4Q(1)|p.R54Q(1)	urinary_tract(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(10-12)cGg>cTg		NEL-like 2 (chicken)							93.0	99.0	97.0					12																	45269642		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269642C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.11G>T	12.37:g.45269642C>A	ENSP00000390680:p.Arg4Leu		Somatic				NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L	p.R4L	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	515	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	4					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.11G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543605	0.45280	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	D;D;D;D;T;T;T	0.82803	-1.55;-1.55;-1.52;-1.65;2.66;1.48;-1.28	4.95	1.53	0.23141	.	0.554869	0.18174	N	0.149358	T	0.62221	0.2410	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.49579	-0.8925	10	0.30854	T	0.27	-0.3878	6.3421	0.21328	0.3292:0.4304:0.2404:0.0	.	27;54;4;4	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	L	4;4;27;54;4;4;4	ENSP00000390680:R4L;ENSP00000394612:R4L;ENSP00000327988:R27L;ENSP00000416341:R54L;ENSP00000447085:R4L;ENSP00000448635:R4L;ENSP00000446961:R4L	ENSP00000327988:R27L	R	-	2	0	NELL2	43555909	0.650000	0.27331	0.996000	0.52242	0.944000	0.59088	0.571000	0.23669	0.528000	0.28580	0.650000	0.86243	CGG		0.517	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		5	126	5	126	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(805-807)Ggg>Tgg		G protein-coupled receptor 84							135.0	140.0	138.0					12																	54756831		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756831C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.805G>T	12.37:g.54756831C>A	ENSP00000450310:p.Gly269Trp		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA	p.G269W			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	1440	-			269					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.805G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823102	0.16678	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61980	0.06;0.06	4.88	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.528223	0.18343	N	0.144124	T	0.36468	0.0968	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.26677	-1.0096	10	0.54805	T	0.06	-3.3035	6.7169	0.23308	0.147:0.683:0.0:0.1699	.	269	Q9NQS5	GPR84_HUMAN	W	269	ENSP00000267015:G269W;ENSP00000450310:G269W	ENSP00000267015:G269W	G	-	1	0	GPR84	53043098	0.001000	0.12720	0.597000	0.28824	0.979000	0.70002	0.611000	0.24268	0.566000	0.29273	0.561000	0.74099	GGG		0.547	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	225	7	225	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	56995493	56995493	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:56995493G>T	ENST00000551812.1	-	20	4107	c.3914C>A	c.(3913-3915)cCg>cAg	p.P1305Q	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1273Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1305	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGCTCCTCCGGGGGTTGTGA	0.582																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(3817-3819)cCg>cAg		bromodomain adjacent to zinc finger domain, 2A							149.0	156.0	154.0					12																	56995493		2028	4189	6217	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56995493G>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3914C>A	12.37:g.56995493G>T	ENSP00000446880:p.Pro1305Gln		Somatic				BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1305Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q	p.P1273Q			WXS	Illumina GAIIx	Phase_I	Q9UIF9	BAZ2A_HUMAN			21	4017	-			1305			Glu-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.3818C>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	3.586	-0.084549	0.07097	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.70282	-0.25;-0.24;-0.26;-0.47;-0.28	5.21	-7.26	0.01466	.	0.805199	0.11266	N	0.582084	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	P;P;P;P	0.40794	0.729;0.729;0.64;0.729	B;B;B;B	0.36418	0.224;0.224;0.109;0.224	T	0.45818	-0.9235	10	0.13470	T	0.59	.	12.2518	0.54601	0.1598:0.1224:0.7179:0.0	.	1303;1305;1305;1278	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1275;1273;1305;241;1303	ENSP00000368754:P1275Q;ENSP00000179765:P1273Q;ENSP00000446880:P1305Q;ENSP00000448760:P241Q;ENSP00000447941:P1303Q	ENSP00000179765:P1273Q	P	-	2	0	BAZ2A	55281760	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-0.592000	0.05747	-1.090000	0.03069	-0.175000	0.13238	CCG		0.582	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		6	213	6	213	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57485187	57485187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57485187C>A	ENST00000300131.3	+	2	741	c.363C>A	c.(361-363)ccC>ccA	p.P121P	NAB2_ENST00000357680.4_Silent_p.P121P|NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	121					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P121P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTGTTCCCGTCTCCAGCA	0.617																																						ENST00000300131.3																			2	Substitution - coding silent(2)	p.P121P(2)	large_intestine(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(361-363)ccC>ccA		NGFI-A binding protein 2 (EGR1 binding protein 2)							75.0	82.0	80.0					12																	57485187		2203	4300	6503	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485187C>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.363C>A	12.37:g.57485187C>A			Somatic				NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P121P	p.P121P	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			2	741	+			121					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.363C>A	CCDS8930.1																																																																																				0.617	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	158	6	158	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57881902	57881902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57881902C>A	ENST00000262027.5	+	1	163	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	10					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GATGGCGTCCCGGGTTGCTTG	0.662																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(28-30)cCg>cAg		methionyl-tRNA synthetase	L-Methionine(DB00134)						110.0	113.0	112.0					12																	57881902		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57881902C>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.29C>A	12.37:g.57881902C>A	ENSP00000262027:p.Pro10Gln		Somatic				ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR	p.P10Q	NM_004990.3	NP_004981.2	WXS	Illumina GAIIx	Phase_I	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		1	163	+			10					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.29C>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128421	0.56721	.	.	ENSG00000166986	ENST00000262027	T	0.76968	-1.06	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83807	0.0239	10	0.56958	D	0.05	-15.1029	15.0215	0.71635	0.0:1.0:0.0:0.0	.	10;10	B4E0E9;P56192	.;SYMC_HUMAN	Q	10	ENSP00000262027:P10Q	ENSP00000262027:P10Q	P	+	2	0	MARS	56168169	1.000000	0.71417	0.976000	0.42696	0.022000	0.10575	4.216000	0.58540	2.340000	0.79590	0.484000	0.47621	CCG		0.662	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		6	186	6	186	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014048	58014048	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:58014048G>T	ENST00000320442.4	+	1	356	c.45G>T	c.(43-45)ctG>ctT	p.L15L	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|SLC26A10_ENST00000379218.2_Silent_p.L15L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	15						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCAT	0.532																																						ENST00000379218.2																			2	Substitution - Nonsense(2)	p.G16*(2)	lung(2)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(43-45)ctG>ctT		solute carrier family 26, member 10							276.0	247.0	257.0					12																	58014048		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58014048G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.45G>T	12.37:g.58014048G>T			Somatic				SLC26A10_ENST00000320442.4_Silent_p.L15L	p.L15L			WXS	Illumina GAIIx	Phase_I	Q8NG04	S2610_HUMAN			1	356	+	Melanoma(17;0.122)		15					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.45G>T	CCDS8949.2																																																																																				0.532	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			7	274	7	274	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72056881	72056881	+	Silent	SNP	C	C	A	rs374959181		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:72056881C>A	ENST00000378743.3	-	1	868	c.510G>T	c.(508-510)ccG>ccT	p.P170P	ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	170					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTCTGCACCCCGGCTTGCCTC	0.657																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(508-510)ccG>ccT		zinc finger, C3H1-type containing							88.0	101.0	97.0					12																	72056881		2000	4163	6163	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056881C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.510G>T	12.37:g.72056881C>A			Somatic				ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR	p.P170P	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			1	868	-			170					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.510G>T	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		6	182	6	182	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118490251	118490251	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:118490251C>A	ENST00000315436.3	-	2	187	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'Flank|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000544233.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	16					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGCGCCCGGGCTTGAGT	0.592																																						ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(46-48)Ggg>Tgg		WD repeat and SOCS box containing 2							84.0	96.0	92.0					12																	118490251		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118490251C>A	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.46G>T	12.37:g.118490251C>A	ENSP00000319474:p.Gly16Trp		Somatic				WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W	p.G16W	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			2	187	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		16					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.46G>T	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010000	0.75046	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.48	5.48	0.80851	.	0.184054	0.47852	D	0.000219	T	0.58018	0.2093	L	0.54323	1.7	0.80722	D	1	D	0.57257	0.979	P	0.47891	0.56	T	0.63391	-0.6648	10	0.87932	D	0	-17.0868	18.1384	0.89630	0.0:1.0:0.0:0.0	.	16	Q9NYS7	WSB2_HUMAN	W	16;33;18;18	ENSP00000319474:G16W;ENSP00000409131:G33W;ENSP00000439450:G18W;ENSP00000440386:G18W	ENSP00000319474:G16W	G	-	1	0	WSB2	116974634	0.995000	0.38212	0.995000	0.50966	0.861000	0.49209	3.217000	0.51184	2.563000	0.86464	0.591000	0.81541	GGG		0.592	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		5	165	5	165	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220064	133220064	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:133220064C>A	ENST00000320574.5	-	34	4416	c.4373G>T	c.(4372-4374)tGg>tTg	p.W1458L	POLE_ENST00000535270.1_Missense_Mutation_p.W1431L|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1458					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCTGCTTCCCAGCCTGAAAG	0.582								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4372-4374)tGg>tTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							156.0	148.0	151.0					12																	133220064		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220064C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4373G>T	12.37:g.133220064C>A	ENSP00000322570:p.Trp1458Leu		Somatic				POLE_ENST00000535270.1_Missense_Mutation_p.W1431L	p.W1458L	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4416	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1458					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4373G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895227	0.33442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.87	4.97	0.65823	.	0.191700	0.53938	N	0.000057	T	0.01940	0.0061	N	0.04508	-0.205	0.27121	N	0.962142	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.45131	-0.9282	10	0.26408	T	0.33	.	14.6747	0.68969	0.1454:0.8546:0.0:0.0	.	1431;1458	F5H1D6;Q07864	.;DPOE1_HUMAN	L	1458;1469;1431	ENSP00000322570:W1458L;ENSP00000406383:W1469L;ENSP00000445753:W1431L	ENSP00000322570:W1458L	W	-	2	0	POLE	131730137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.703000	0.61824	1.485000	0.48380	0.644000	0.83932	TGG		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	220	8	220	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21375050	21375050	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:21375050G>T	ENST00000255305.6	-	14	1968	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	XPO4_ENST00000400602.2_Missense_Mutation_p.Q633K			Q9C0E2	XPO4_HUMAN	exportin 4	633					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGCCCATCTGGGGACTTAGT	0.393																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1897-1899)Cag>Aag		exportin 4							147.0	136.0	139.0					13																	21375050		1815	4083	5898	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375050G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1897C>A	13.37:g.21375050G>T	ENSP00000255305:p.Gln633Lys		Somatic				XPO4_ENST00000255305.6_Missense_Mutation_p.Q633K	p.Q633K	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1932	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	633					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1897C>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869146	0.91587	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.47716	1.5	0.80722	D	1	P	0.38395	0.629	B	0.43331	0.416	T	0.30179	-0.9987	10	0.07644	T	0.81	-14.7826	19.7319	0.96186	0.0:0.0:1.0:0.0	.	633	Q9C0E2	XPO4_HUMAN	K	633;503;633	ENSP00000383444:Q633K;ENSP00000255305:Q633K	ENSP00000255305:Q633K	Q	-	1	0	XPO4	20273050	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	9.363000	0.97131	2.668000	0.90789	0.655000	0.94253	CAG		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		6	131	6	131	---	---	---	---
MED4	29079	broad.mit.edu	37	13	48653982	48653982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:48653982G>T	ENST00000258648.2	-	6	663	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.P167Q	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	213					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATTACCTGGCAATCTTCC	0.453																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(637-639)cCa>cAa		mediator complex subunit 4							135.0	120.0	125.0					13																	48653982		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48653982G>T	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.638C>A	13.37:g.48653982G>T	ENSP00000258648:p.Pro213Gln		Somatic				MED4_ENST00000378586.1_Missense_Mutation_p.P167Q|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	p.P213Q	NM_014166.3	NP_054885.1	WXS	Illumina GAIIx	Phase_I	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	663	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	213					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.638C>A	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328063	0.81690	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.76088	-0.3087	9	0.62326	D	0.03	-19.5564	18.9634	0.92685	0.0:0.0:1.0:0.0	.	191;213	E9PDW1;Q9NPJ6	.;MED4_HUMAN	Q	213;191;167;191	.	ENSP00000258648:P213Q	P	-	2	0	MED4	47551983	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.663000	0.98605	2.793000	0.96121	0.563000	0.77884	CCA		0.453	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		5	123	5	123	---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53008975	53008975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:53008975C>A	ENST00000378060.4	-	5	421	c.394G>T	c.(394-396)Gag>Tag	p.E132*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	132	GLUE C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GGCATATTCTCCCATCTTCTT	0.343																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(394-396)Gag>Tag		vacuolar protein sorting 36 homolog (S. cerevisiae)							190.0	202.0	198.0					13																	53008975		2203	4300	6503	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53008975C>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.394G>T	13.37:g.53008975C>A	ENSP00000367299:p.Glu132*		Somatic				VPS36_ENST00000480923.1_5'UTR	p.E132*	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	WXS	Illumina GAIIx	Phase_I	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	5	421	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	132			GLUE C-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.394G>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.754862	0.69648	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-25.1511	18.9612	0.92678	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000367299:E132X	E	-	1	0	VPS36	51906976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.747000	0.68689	2.715000	0.92844	0.563000	0.77884	GAG		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			7	250	7	250	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79916824	79916824	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:79916824G>T	ENST00000438737.2	-	17	2842	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q|RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	801					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATACTTTTTGGAAGACAGCG	0.299																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2401-2403)cCa>cAa		RNA binding motif protein 26							114.0	124.0	121.0					13																	79916824		2203	4296	6499	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79916824G>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2402C>A	13.37:g.79916824G>T	ENSP00000387531:p.Pro801Gln		Somatic				RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q|RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q	p.P801Q			WXS	Illumina GAIIx	Phase_I	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	17	2842	-		Acute lymphoblastic leukemia(28;0.0279)	801					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2402C>A		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765291	0.31228	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.48836	0.8;0.8	5.37	5.37	0.77165	.	0.239992	0.42548	D	0.000691	T	0.37758	0.1015	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.25955	0.04;0.138;0.085;0.138	B;B;B;B	0.21917	0.008;0.037;0.017;0.037	T	0.17837	-1.0356	9	.	.	.	-5.4849	7.3326	0.26592	0.2048:0.0:0.7952:0.0	.	158;777;801;774	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	Q	774;802;801;777	ENSP00000267229:P774Q;ENSP00000390222:P777Q	.	P	-	2	0	RBM26	78814825	0.996000	0.38824	0.995000	0.50966	0.990000	0.78478	2.787000	0.47798	2.673000	0.90976	0.467000	0.42956	CCA		0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		7	227	7	227	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454723	84454723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:84454723C>A	ENST00000377084.2	-	1	1805	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	307					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTTGTACCTCCGTTTGGAGC	0.542																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(919-921)gGa>gTa		SLIT and NTRK-like family, member 1							75.0	74.0	74.0					13																	84454723		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454723C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.920G>T	13.37:g.84454723C>A	ENSP00000366288:p.Gly307Val		Somatic					p.G307V	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1805	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	307					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.920G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555996	0.27827	.	.	ENSG00000178235	ENST00000377084	T	0.57752	0.38	4.85	4.85	0.62838	.	0.053861	0.85682	D	0.000000	T	0.39036	0.1063	N	0.14661	0.345	0.80722	D	1	B	0.25743	0.133	B	0.28465	0.09	T	0.24548	-1.0157	10	0.37606	T	0.19	-5.658	16.699	0.85343	0.0:1.0:0.0:0.0	.	307	Q96PX8	SLIK1_HUMAN	V	307	ENSP00000366288:G307V	ENSP00000366288:G307V	G	-	2	0	SLITRK1	83352724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.525000	0.85131	0.555000	0.69702	GGA		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		7	67	7	67	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102996	22102996	+	Start_Codon_SNP	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22102996C>A	ENST00000542433.1	-	1	100	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGGTCTTTCCCATGTCTTTTT	0.443																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(1-3)atG>atT		olfactory receptor, family 10, subfamily G, member 2							73.0	68.0	70.0					14																	22102996		2196	4282	6478	SO:0001582	initiator_codon_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102996C>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.3G>T	14.37:g.22102996C>A	ENSP00000445383:p.Met1Ile		Somatic					p.M1I	NM_001005466.1	NP_001005466.1	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	100	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	1					B2RPD0	Translation_Start_Site	SNP	ENST00000542433.1	37	c.3G>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469492	0.63625	.	.	ENSG00000255582	ENST00000542433	T	0.00349	7.99	3.95	3.95	0.45737	.	0.000000	0.44902	D	0.000412	T	0.00608	0.0020	.	.	.	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.79926	-0.1597	9	0.87932	D	0	-18.7171	13.5173	0.61547	0.0:1.0:0.0:0.0	.	1	Q8NGC3	O10G2_HUMAN	I	1	ENSP00000445383:M1I	ENSP00000445383:M1I	M	-	3	0	OR10G2	21172836	0.818000	0.29161	0.590000	0.28732	0.955000	0.61496	1.885000	0.39678	2.021000	0.59480	0.563000	0.77884	ATG		0.443	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		Missense_Mutation	8	117	8	117	---	---	---	---
TRAV2	28691	broad.mit.edu	37	14	22180919	22180919	+	RNA	SNP	C	C	A	rs372840957		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22180919C>A	ENST00000390424.2	+	0	201				AE000658.31_ENST00000542992.1_lincRNA					T cell receptor alpha variable 2																		CTTCACTTCCCGGGATGTGCA	0.493																																						ENST00000390424.2																			0																				244.0	230.0	235.0					14																	22180919		2033	4173	6206			28691							g.chr14:22180919C>A	AE000658		14q11.2	2012-02-07			ENSG00000211776	ENSG00000211776		"""T cell receptors / TRA locus"""	12116	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168980		14.37:g.22180919C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	201	+									RNA	SNP	ENST00000390424.2	37																																																																																						0.493	TRAV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401875.1	NG_001332		7	315	7	315	---	---	---	---
TRAV8-4	28682	broad.mit.edu	37	14	22362923	22362923	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22362923C>A	ENST00000390438.2	+	0	182									T cell receptor alpha variable 8-4																		CAGGAGGAACCAGAGCCCAGT	0.483											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390438.2																			0																				75.0	74.0	74.0					14																	22362923		1957	4134	6091			28682							g.chr14:22362923C>A	AE000659		14q11.2	2012-02-07			ENSG00000211790	ENSG00000211790		"""T cell receptors / TRA locus"""	12149	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168995		14.37:g.22362923C>A			Somatic	OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755					WXS	Illumina GAIIx	Phase_I					0	182	+									RNA	SNP	ENST00000390438.2	37																																																																																						0.483	TRAV8-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401893.1	NG_001332		6	86	6	86	---	---	---	---
DHRS1	115817	broad.mit.edu	37	14	24765763	24765763	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24765763C>A	ENST00000288111.7	-	4	602	c.326G>T	c.(325-327)tGg>tTg	p.W109L	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	109						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AGGGGTTTCCCAGAATGCCTT	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(325-327)tGg>tTg		dehydrogenase/reductase (SDR family) member 1							173.0	141.0	152.0					14																	24765763		2203	4300	6503	SO:0001583	missense	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24765763C>A	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.326G>T	14.37:g.24765763C>A	ENSP00000288111:p.Trp109Leu		Somatic	OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	p.W109L	NM_001136050.2	NP_001129522.1	WXS	Illumina GAIIx	Phase_I	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	4	602	-			109					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	37	c.326G>T	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.952640	0.92660	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.86627	-2.15;-2.15	5.16	5.16	0.70880	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	N	0.12611	0.24	0.80722	D	1	P	0.41978	0.767	P	0.51550	0.673	D	0.86512	0.1810	10	0.72032	D	0.01	-13.4724	14.154	0.65405	0.0:1.0:0.0:0.0	.	109	Q96LJ7	DHRS1_HUMAN	L	109	ENSP00000288111:W109L;ENSP00000380027:W109L	ENSP00000288111:W109L	W	-	2	0	DHRS1	23835603	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.639000	0.74314	2.395000	0.81488	0.651000	0.88453	TGG		0.552	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		5	116	5	116	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24799472	24799472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24799472C>A	ENST00000310677.4	-	8	1073	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	320					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACAGTCCCCCAGGATCTTGA	0.567																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(958-960)ctG>ctT		adenylate cyclase 4							138.0	102.0	114.0					14																	24799472		2203	4300	6503	SO:0001819	synonymous_variant	196883				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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24799472C>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.960G>T	14.37:g.24799472C>A			Somatic				ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	8	1073	-			320					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.960G>T	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			5	57	5	57	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24880587	24880587	+	Nonsense_Mutation	SNP	C	C	A	rs547499850		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24880587C>A	ENST00000382554.3	+	6	2891	c.2573C>A	c.(2572-2574)tCg>tAg	p.S858*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	858					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCTACACTCGCTCAAGATG	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2572-2574)tCg>tAg		NYN domain and retroviral integrase containing							198.0	194.0	196.0					14																	24880587		2003	4178	6181	SO:0001587	stop_gained	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880587C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2573C>A	14.37:g.24880587C>A	ENSP00000371994:p.Ser858*		Somatic	OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.S858*	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			6	2891	+			858					Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	ENST00000382554.3	37	c.2573C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	42	9.294510	0.99128	.	.	ENSG00000205978	ENST00000382554	.	.	.	5.02	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9573	0.24578	0.0:0.7317:0.1745:0.0938	.	.	.	.	X	858	.	ENSP00000371994:S858X	S	+	2	0	NYNRIN	23950427	0.039000	0.19947	0.258000	0.24420	0.994000	0.84299	1.497000	0.35649	0.680000	0.31366	0.467000	0.42956	TCG		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	198	6	198	---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37149905	37149905	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:37149905C>A	ENST00000331299.5	-	10	1373	c.858G>T	c.(856-858)ctG>ctT	p.L286L	SLC25A21_ENST00000555449.1_Silent_p.L286L	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	286					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATTCATAAACCAGCAGCATCA	0.418																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(856-858)ctG>ctT		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							137.0	132.0	134.0					14																	37149905		2203	4300	6503	SO:0001819	synonymous_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37149905C>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.858G>T	14.37:g.37149905C>A			Somatic				SLC25A21_ENST00000555449.1_Silent_p.L286L	p.L286L	NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	10	1373	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		286					A8K0L0|G3V4L5|Q3MJ99	Silent	SNP	ENST00000331299.5	37	c.858G>T	CCDS9663.1																																																																																				0.418	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		5	110	5	110	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665409	45665409	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:45665409G>T	ENST00000267430.5	+	21	5460	c.5375G>T	c.(5374-5376)gGg>gTg	p.G1792V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1792	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCACTTCAGGGGCATCCTGT	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5374-5376)gGg>gTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							132.0	130.0	131.0					14																	45665409		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665409G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5375G>T	14.37:g.45665409G>T	ENSP00000267430:p.Gly1792Val		Somatic				FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	p.G1792V	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			21	5460	+			1792			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5375G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.455|4.455	0.084302|0.084302	0.08583|0.08583	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.16743|.	2.91;2.91;2.32|.	5.27|5.27	-4.11|-4.11	0.03928|0.03928	.|.	3.469510|.	0.00871|.	N|.	0.002022|.	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.22706|.	T|.	0.39|.	.|.	1.4217|1.4217	0.02314|0.02314	0.166:0.2365:0.3262:0.2713|0.166:0.2365:0.3262:0.2713	.|.	1766;1792|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	V|S	1792;1766;1308|759	ENSP00000267430:G1792V;ENSP00000442493:G1766V;ENSP00000452033:G1308V|.	ENSP00000267430:G1792V|.	G|R	+|+	2|3	0|2	FANCM|FANCM	44735159|44735159	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.409000|-0.409000	0.07160|0.07160	-0.398000|-0.398000	0.07679|0.07679	-0.224000|-0.224000	0.12420|0.12420	GGG|AGG		0.433	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	117	6	117	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53211583	53211583	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:53211583C>A	ENST00000354586.4	+	2	364	c.71C>A	c.(70-72)cCt>cAt	p.P24H	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.P24H	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	24					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TGGACCTACCCTATGAGACGA	0.368																																						ENST00000354586.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(70-72)cCt>cAt		serine/threonine/tyrosine interacting protein							186.0	170.0	176.0					14																	53211583		2203	4300	6503	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53211583C>A		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.71C>A	14.37:g.53211583C>A	ENSP00000346599:p.Pro24His		Somatic				STYX_ENST00000442123.2_Missense_Mutation_p.P24H|STYX_ENST00000556861.1_Intron	p.P24H	NM_145251.3	NP_660294.1	WXS	Illumina GAIIx	Phase_I	Q8WUJ0	STYX_HUMAN			2	364	+	Breast(41;0.176)		24					B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.71C>A	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890473	0.72524	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.60424	0.19;0.19	5.52	5.52	0.82312	.	0.729937	0.12971	N	0.424120	T	0.64843	0.2635	L	0.57536	1.79	0.80722	D	1	P	0.51240	0.943	P	0.46718	0.525	T	0.66184	-0.5987	10	0.51188	T	0.08	.	19.7889	0.96450	0.0:1.0:0.0:0.0	.	24	Q8WUJ0	STYX_HUMAN	H	24	ENSP00000403214:P24H;ENSP00000346599:P24H	ENSP00000346599:P24H	P	+	2	0	STYX	52281333	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.364000	0.73086	2.734000	0.93682	0.655000	0.94253	CCT		0.368	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		5	79	5	79	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64574302	64574302	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:64574302C>A	ENST00000344113.4	+	65	12798	c.12586C>A	c.(12586-12588)Cta>Ata	p.L4196I	SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L581I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4196					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAATGTTCCCTAAGGCCCAA	0.453																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(1741-1743)Cta>Ata		spectrin repeat containing, nuclear envelope 2							195.0	184.0	188.0					14																	64574302		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64574302C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12586C>A	14.37:g.64574302C>A	ENSP00000341781:p.Leu4196Ile		Somatic				SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4196I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I	p.L581I			WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	66	12885	+			4196					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1741C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	0.996	-0.692396	0.03303	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.60171	0.68;3.98;0.69;0.21;4.02;3.98	4.66	0.628	0.17681	.	1.232900	0.06423	U	0.722771	T	0.40222	0.1108	N	0.17082	0.46	0.09310	N	1	P;B;P	0.42692	0.787;0.421;0.557	B;B;B	0.41988	0.372;0.055;0.117	T	0.27872	-1.0061	10	0.39692	T	0.17	.	4.0869	0.09951	0.0:0.523:0.1757:0.3012	.	581;4196;4196	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4196;581;4196;4211;4211;830;581;88	ENSP00000350719:L4196I;ENSP00000349969:L581I;ENSP00000341781:L4196I;ENSP00000452570:L4211I;ENSP00000450831:L830I;ENSP00000378249:L581I	ENSP00000261678:L4211I	L	+	1	2	SYNE2	63644055	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.112000	0.10791	0.191000	0.20236	0.563000	0.77884	CTA		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	202	7	202	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70461181	70461181	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:70461181C>A	ENST00000381280.4	+	7	901	c.648C>A	c.(646-648)acC>acA	p.T216T	SMOC1_ENST00000361956.3_Silent_p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	216					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGAACAACACCAACATAAGAA	0.428																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(646-648)acC>acA		SPARC related modular calcium binding 1							215.0	209.0	211.0					14																	70461181		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70461181C>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.648C>A	14.37:g.70461181C>A			Somatic				SMOC1_ENST00000361956.3_Silent_p.T216T	p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	WXS	Illumina GAIIx	Phase_I	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	7	901	+			216					A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.648C>A	CCDS9798.1																																																																																				0.428	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	180	6	180	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71455412	71455412	+	Missense_Mutation	SNP	C	C	A	rs11625690	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:71455412C>A	ENST00000304743.2	+	7	2886	c.2440C>A	c.(2440-2442)Cta>Ata	p.L814I	PCNX_ENST00000238570.5_Missense_Mutation_p.L814I|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	814			L -> I (in dbSNP:rs11625690).			integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGGATCACCCCTAAGGTATGG	0.493																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2440-2442)Cta>Ata		pecanex homolog (Drosophila)							174.0	155.0	162.0					14																	71455412		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455412C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2440C>A	14.37:g.71455412C>A	ENSP00000304192:p.Leu814Ile		Somatic				PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L814I	p.L814I	NM_014982.2	NP_055797.2	WXS	Illumina GAIIx	Phase_I	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2886	+			814		L -> I (in dbSNP:rs11625690).			B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2440C>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958302	0.34565	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01051	5.4;5.4	5.01	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.978;0.996	T	0.60089	-0.7331	10	0.37606	T	0.19	.	14.091	0.64990	0.0:0.9273:0.0:0.0727	rs11625690;rs11625690	814;814	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	I	814	ENSP00000304192:L814I;ENSP00000238570:L814I	ENSP00000238570:L814I	L	+	1	2	PCNX	70525165	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.275000	0.78548	1.495000	0.48549	-0.186000	0.12905	CTA		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	259	7	259	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75489529	75489529	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:75489529G>T	ENST00000556740.1	-	10	4113	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K	MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000355774.2_Missense_Mutation_p.Q1360K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000544985.1_3'UTR|RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1360					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCAGGCTTGGGATGCCAAC	0.517								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(4078-4080)Caa>Aaa	Mismatch excision repair (MMR)	mutL homolog 3							174.0	161.0	165.0					14																	75489529		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75489529G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4078C>A	14.37:g.75489529G>T	ENSP00000452316:p.Gln1360Lys		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q1360K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K	p.Q1360K	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	11	4293	-			1360					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.4078C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875520	0.33162	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T;T	0.76709	-0.71;-0.71;-1.04;-1.04;-0.71	5.24	5.24	0.73138	MutL, C-terminal, dimerisation (2);	0.056996	0.64402	D	0.000001	T	0.68265	0.2982	N	0.20766	0.605	0.80722	D	1	B;B	0.30727	0.292;0.234	B;B	0.32762	0.126;0.152	T	0.69942	-0.5008	10	0.59425	D	0.04	-8.5308	17.0353	0.86473	0.0:0.0:1.0:0.0	.	1336;1360	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	1360;298;1336;1182;1360	ENSP00000348020:Q1360K;ENSP00000370355:Q298K;ENSP00000238662:Q1336K;ENSP00000451540:Q1182K;ENSP00000452316:Q1360K	ENSP00000238662:Q1336K	Q	-	1	0	MLH3	74559282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.335000	0.90031	2.459000	0.83118	0.561000	0.74099	CAA		0.517	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	175	7	175	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100604171	100604171	+	Intron	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:100604171C>A	ENST00000402714.2	+	11	1692				EVL_ENST00000392920.3_Intron|EVL_ENST00000544450.2_Missense_Mutation_p.P380T			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CACATGTCCCCCAGGGTTTGG	0.592																																						ENST00000544450.2																			0				cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14						c.(1138-1140)Cca>Aca		Enah/Vasp-like							73.0	70.0	71.0					14																	100604171		2202	4300	6502	SO:0001627	intron_variant	51466				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	g.chr14:100604171C>A	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1088+32C>A	14.37:g.100604171C>A			Somatic				EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron	p.P380T			WXS	Illumina GAIIx	Phase_I	Q9UI08	EVL_HUMAN			11	1421	+		Melanoma(154;0.152)	184			EVH2 block C.|EVH2.		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.1138C>A		.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894624	0.02491	.	.	ENSG00000196405	ENST00000544450	T	0.70749	-0.51	3.65	2.7	0.31948	.	.	.	.	.	T	0.49864	0.1582	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	7	.	.	.	.	3.2051	0.06663	0.1788:0.5451:0.1742:0.1019	.	380	B7Z3I5	.	T	380	ENSP00000437904:P380T	.	P	+	1	0	EVL	99673924	0.006000	0.16342	0.015000	0.15790	0.024000	0.10985	2.344000	0.44010	0.438000	0.26450	0.561000	0.74099	CCA		0.592	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			5	64	5	64	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102904421	102904421	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:102904421C>A	ENST00000359520.7	+	10	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_ENST00000558678.1_Silent_p.S819S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	819					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGTGGTCTCCGAGAAGTATA	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2455-2457)tcC>tcA		tectonin beta-propeller repeat containing 2							143.0	146.0	145.0					14																	102904421		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102904421C>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2457C>A	14.37:g.102904421C>A			Somatic	OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	TECPR2_ENST00000558678.1_Silent_p.S819S	p.S819S	NM_014844.3	NP_055659.2	WXS	Illumina GAIIx	Phase_I	O15040	TCPR2_HUMAN			10	2683	+			819					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2457C>A	CCDS32162.1																																																																																				0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		6	222	6	222	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691827	106691827	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:106691827C>A	ENST00000390607.2	-	0	275									immunoglobulin heavy variable 3-21																		GGATGAGACCCACTCCAGCCC	0.532																																						ENST00000390607.2																			0																				153.0	139.0	143.0					14																	106691827		1920	4121	6041			28444							g.chr14:106691827C>A	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691827C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	275	-									RNA	SNP	ENST00000390607.2	37																																																																																						0.532	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		7	247	7	247	---	---	---	---
NDNL2	56160	broad.mit.edu	37	15	29561192	29561192	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:29561192G>T	ENST00000332303.4	-	1	841	c.718C>A	c.(718-720)Cac>Aac	p.H240N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	240	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGGTGTGGGGTATCCGC	0.502																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(718-720)Cac>Aac		necdin-like 2							71.0	79.0	76.0					15																	29561192		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561192G>T	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.718C>A	15.37:g.29561192G>T	ENSP00000330694:p.His240Asn		Somatic				FAM189A1_ENST00000261275.4_Intron	p.H240N	NM_138704.3	NP_619649.1	WXS	Illumina GAIIx	Phase_I	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	841	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	240			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.718C>A	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684903	0.29872	.	.	ENSG00000185115	ENST00000332303	T	0.04234	3.67	4.21	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	N	0.11724	0.165	0.39886	D	0.973705	B	0.28400	0.21	B	0.30401	0.115	T	0.36089	-0.9762	10	0.02654	T	1	.	9.296	0.37815	0.0:0.0:0.7858:0.2142	.	240	Q96MG7	MAGG1_HUMAN	N	240	ENSP00000330694:H240N	ENSP00000330694:H240N	H	-	1	0	NDNL2	27348484	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	4.060000	0.57477	1.311000	0.45024	0.563000	0.77884	CAC		0.502	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		6	100	6	100	---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40564554	40564554	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40564554C>A	ENST00000542403.2	+	4	1099	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K|PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|PAK6_ENST00000455577.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	330	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAGCCCCCAGAAGTCCCT	0.687																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(988-990)Cag>Aag		p21 protein (Cdc42/Rac)-activated kinase 6							54.0	63.0	60.0					15																	40564554		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564554C>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.988C>A	15.37:g.40564554C>A	ENSP00000439597:p.Gln330Lys		Somatic				PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|PAK6_ENST00000542403.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K	p.Q330K	NM_001276718.1	NP_001263647.1	WXS	Illumina GAIIx	Phase_I	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1900	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	330			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.988C>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324072	0.24080	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73681	-0.72;-0.72;-0.77;-0.72;-0.72	4.69	3.71	0.42584	.	0.766622	0.13061	N	0.416875	T	0.54062	0.1835	N	0.12182	0.205	0.49483	D	0.99979	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.05721	T	0.95	.	14.7013	0.69157	0.1449:0.8551:0.0:0.0	.	330;330	Q9NQU5;G5E9R2	PAK6_HUMAN;.	K	330	ENSP00000406873:Q330K;ENSP00000401153:Q330K;ENSP00000409465:Q330K;ENSP00000260404:Q330K;ENSP00000439597:Q330K	ENSP00000260404:Q330K	Q	+	1	0	PAK6	38351846	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.192000	0.58378	2.318000	0.78349	0.555000	0.69702	CAG		0.687	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			5	89	5	89	---	---	---	---
CHST14	113189	broad.mit.edu	37	15	40764282	40764282	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40764282C>A	ENST00000306243.5	+	1	1123	c.870C>A	c.(868-870)gcC>gcA	p.A290A	CHST14_ENST00000559991.1_Silent_p.A265A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	290					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCTTGTGCCGTGCACTATG	0.567																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(868-870)gcC>gcA		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							118.0	119.0	119.0					15																	40764282		2203	4300	6503	SO:0001819	synonymous_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764282C>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.870C>A	15.37:g.40764282C>A			Somatic				CHST14_ENST00000559991.1_Silent_p.A265A	p.A290A	NM_130468.3	NP_569735.1	WXS	Illumina GAIIx	Phase_I	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1123	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	290					Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	ENST00000306243.5	37	c.870C>A	CCDS10059.1																																																																																				0.567	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		5	170	5	170	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49255147	49255147	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:49255147G>T	ENST00000332408.4	-	1	494	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	22	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCAGCATCCCGGGGTGCCCGA	0.607																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(64-66)ccC>ccA		SHC (Src homology 2 domain containing) family, member 4							75.0	81.0	79.0					15																	49255147		2196	4288	6484	SO:0001819	synonymous_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255147G>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.66C>A	15.37:g.49255147G>T			Somatic					p.P22P	NM_203349.3	NP_976224.3	WXS	Illumina GAIIx	Phase_I	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	494	-		all_lung(180;0.00466)	22			CH2.		Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	c.66C>A	CCDS10130.1																																																																																				0.607	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		6	152	6	152	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50279700	50279700	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:50279700C>A	ENST00000284509.6	-	10	777	c.636G>T	c.(634-636)atG>atT	p.M212I	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	212						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAGGATTCCCATGAATTTAT	0.393																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(634-636)atG>atT		ATPase, class I, type 8B, member 4							116.0	113.0	114.0					15																	50279700		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50279700C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.636G>T	15.37:g.50279700C>A	ENSP00000284509:p.Met212Ile		Somatic				ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	p.M212I	NM_024837.2	NP_079113.2	WXS	Illumina GAIIx	Phase_I	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	10	777	-		all_lung(180;0.00183)	212					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.636G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806845	0.31961	.	.	ENSG00000104043	ENST00000284509	T	0.73789	-0.78	5.67	-11.3	0.00108	ATPase, P-type, ATPase-associated domain (1);	0.774566	0.11642	N	0.543681	T	0.31796	0.0808	N	0.01009	-1.055	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.39692	T	0.17	.	4.3387	0.11099	0.1533:0.1001:0.1599:0.5866	.	212	Q8TF62	AT8B4_HUMAN	I	212	ENSP00000284509:M212I	ENSP00000284509:M212I	M	-	3	0	ATP8B4	48066992	0.000000	0.05858	0.001000	0.08648	0.840000	0.47671	-3.198000	0.00561	-2.227000	0.00722	-0.140000	0.14226	ATG		0.393	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		5	87	5	87	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:54586236G>T	ENST00000260323.11	+	10	3962	c.3962G>T	c.(3961-3963)gGa>gTa	p.G1321V	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3961-3963)gGa>gTa		unc-13 homolog C (C. elegans)							231.0	233.0	233.0					15																	54586236		1871	4103	5974	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586236G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3962G>T	15.37:g.54586236G>T	ENSP00000260323:p.Gly1321Val		Somatic				UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V	p.G1321V			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3962	+			1321					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3962G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545160	0.86022	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72282	-0.64;-0.64;-0.64	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86593	0.1861	10	0.62326	D	0.03	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	V	1321;1321;1319	ENSP00000260323:G1321V;ENSP00000438156:G1321V;ENSP00000442569:G1319V	ENSP00000260323:G1321V	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	215	7	215	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65502087	65502087	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:65502087C>A	ENST00000261883.4	-	2	173	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	3					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G3R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTTGGTCCCCACCATCTTT	0.552																																						ENST00000261883.4																			1	Substitution - Missense(1)	p.G3R(1)	kidney(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(7-9)Ggg>Tgg		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							119.0	100.0	106.0					15																	65502087		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65502087C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.7G>T	15.37:g.65502087C>A	ENSP00000261883:p.Gly3Trp		Somatic					p.G3W	NM_003613.3	NP_003604	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			2	173	-			3					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.7G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328953	0.60743	.	.	ENSG00000138615	ENST00000261883	T	0.38887	1.11	4.84	4.84	0.62591	.	0.364577	0.23926	N	0.043194	T	0.27832	0.0685	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.43360	0.417	T	0.21690	-1.0238	10	0.72032	D	0.01	-3.2115	13.6341	0.62213	0.0:1.0:0.0:0.0	.	3	O75339	CILP1_HUMAN	W	3	ENSP00000261883:G3W	ENSP00000261883:G3W	G	-	1	0	CILP	63289140	0.008000	0.16893	0.059000	0.19551	0.984000	0.73092	2.208000	0.42797	2.666000	0.90696	0.561000	0.74099	GGG		0.552	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	57	5	57	---	---	---	---
SNUPN	10073	broad.mit.edu	37	15	75899625	75899625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:75899625C>A	ENST00000564644.1	-	7	1110	c.532G>T	c.(532-534)Gag>Tag	p.E178*	SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*			O95149	SPN1_HUMAN	snurportin 1	178					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTTTACCTCATTGTAAATG	0.498																																						ENST00000564644.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(532-534)Gag>Tag		snurportin 1							162.0	137.0	146.0					15																	75899625		2197	4294	6491	SO:0001587	stop_gained	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75899625C>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.532G>T	15.37:g.75899625C>A	ENSP00000454852:p.Glu178*		Somatic				SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*	p.E178*			WXS	Illumina GAIIx	Phase_I	O95149	SPN1_HUMAN			7	1110	-			178					A6NE34|A8K0B0|D3DW76	Nonsense_Mutation	SNP	ENST00000564644.1	37	c.532G>T	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	-	25.2	4.618133	0.87359	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.64	5.64	0.86602	.	0.181716	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.9938	18.348	0.90328	0.0:1.0:0.0:0.0	.	.	.	.	X	178;220	.	ENSP00000309831:E178X	E	-	1	0	SNUPN	73686680	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.421000	0.80204	2.668000	0.90789	0.645000	0.84053	GAG		0.498	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		6	91	6	91	---	---	---	---
TBC1D2B	23102	broad.mit.edu	37	15	78346441	78346441	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:78346441C>A	ENST00000300584.3	-	2	448	c.449G>T	c.(448-450)tGg>tTg	p.W150L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.W150L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	150							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGCTGTCCCACTTGACCAT	0.488																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(448-450)tGg>tTg		TBC1 domain family, member 2B							141.0	132.0	135.0					15																	78346441		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78346441C>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.449G>T	15.37:g.78346441C>A	ENSP00000300584:p.Trp150Leu		Somatic				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.W150L	p.W150L			WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			2	520	-			150					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.449G>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.49|14.49	2.551016|2.551016	0.45383|0.45383	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.07444	.|3.19;3.19	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.055058	.|0.64402	.|D	.|0.000001	T|T	0.05318|0.05318	0.0141|0.0141	N|N	0.08118|0.08118	0|0	0.41537|0.41537	D|D	0.988491|0.988491	.|B;B	.|0.23249	.|0.082;0.049	.|B;B	.|0.21917	.|0.037;0.016	T|T	0.43310|0.43310	-0.9399|-0.9399	5|10	.|0.10636	.|T	.|0.68	.|.	17.9711|17.9711	0.89113|0.89113	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|150;150	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	W|L	32|150;150;38	.|ENSP00000387165:W150L;ENSP00000300584:W150L	.|ENSP00000300584:W150L	G|W	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76133496|76133496	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.803000|0.803000	0.45373|0.45373	6.444000|6.444000	0.73452|0.73452	2.574000|2.574000	0.86865|0.86865	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.488	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		6	139	6	139	---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336242	82336242	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:82336242G>T	ENST00000329713.4	-	2	1404	c.969C>A	c.(967-969)ccC>ccA	p.P323P	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	323					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGCTCAGGGCGGGGCTAGGGG	0.637																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(967-969)ccC>ccA		mex-3 RNA binding family member B							43.0	51.0	48.0					15																	82336242		2194	4254	6448	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336242G>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.969C>A	15.37:g.82336242G>T			Somatic				MEX3B_ENST00000558133.1_3'UTR	p.P323P	NM_032246.4	NP_115622.2	WXS	Illumina GAIIx	Phase_I	Q6ZN04	MEX3B_HUMAN			2	1404	-			323					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.969C>A	CCDS10319.1																																																																																				0.637	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		5	104	5	104	---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94928745	94928745	+	Silent	SNP	C	C	A	rs541250089		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:94928745C>A	ENST00000357742.4	+	13	1779	c.1779C>A	c.(1777-1779)ccC>ccA	p.P593P	MCTP2_ENST00000331706.4_Silent_p.P181P|MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGCCATTCCCTTGCTGTCCG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18255	0.0		0.0	False		,,,				2504	0.001					ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1777-1779)ccC>ccA		multiple C2 domains, transmembrane 2							185.0	181.0	183.0					15																	94928745		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94928745C>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1779C>A	15.37:g.94928745C>A			Somatic				MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P|MCTP2_ENST00000331706.4_Silent_p.P181P	p.P593P	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		13	1779	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		593					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.1779C>A	CCDS32338.1																																																																																				0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		6	154	6	154	---	---	---	---
RHBDL1	9028	broad.mit.edu	37	16	726866	726866	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:726866C>A	ENST00000219551.2	+	2	618	c.591C>A	c.(589-591)ccC>ccA	p.P197P	LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Silent_p.P132P|LA16c-313D11.9_ENST00000571933.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	197					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCCCACCCCCCGTGTTCATGG	0.667																																						ENST00000219551.2																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(589-591)ccC>ccA		rhomboid, veinlet-like 1 (Drosophila)							84.0	76.0	79.0					16																	726866		2201	4300	6501	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726866C>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.591C>A	16.37:g.726866C>A			Somatic				RHBDL1_ENST00000352681.3_Silent_p.P132P	p.P197P			WXS	Illumina GAIIx	Phase_I	O75783	RHBL1_HUMAN			2	618	+		Hepatocellular(780;0.0218)	197					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.591C>A	CCDS10418.1																																																																																				0.667	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		5	68	5	68	---	---	---	---
MLST8	64223	broad.mit.edu	37	16	2256121	2256121	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:2256121C>A	ENST00000569417.1	+	2	389	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	12					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GGCAGTGACCCGGTCATCCTG	0.652																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(34-36)cCg>cAg		MTOR associated protein, LST8 homolog (S. cerevisiae)							63.0	69.0	67.0					16																	2256121		2068	4205	6273	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256121C>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.35C>A	16.37:g.2256121C>A	ENSP00000456405:p.Pro12Gln		Somatic				MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q	p.P12Q	NM_022372.4	NP_071767.3	WXS	Illumina GAIIx	Phase_I	Q9BVC4	LST8_HUMAN			2	389	+			12					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.35C>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146261	0.57044	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.69685	1.1;-0.2;1.1;-0.42	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	N	0.25286	0.73	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.038	D;D;B	0.97110	1.0;0.998;0.017	T	0.69128	-0.5227	10	0.27785	T	0.31	-32.0393	17.0826	0.86603	0.0:1.0:0.0:0.0	.	12;31;12	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	Q	12;12;12;31	ENSP00000371888:P12Q;ENSP00000301724:P12Q;ENSP00000380313:P12Q;ENSP00000301725:P31Q	ENSP00000301724:P12Q	P	+	2	0	MLST8	2196122	1.000000	0.71417	0.981000	0.43875	0.970000	0.65996	7.411000	0.80078	2.370000	0.80446	0.436000	0.28706	CCG		0.652	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		5	129	5	129	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4750963	4750963	+	Intron	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:4750963G>T	ENST00000304283.4	-	11	1579				ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_Missense_Mutation_p.P225Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTTCACAAGCGGTCTTACCTG	0.572																																						ENST00000450067.2																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(673-675)cCg>cAg		ankyrin repeat and sterile alpha motif domain containing 3							147.0	165.0	159.0					16																	4750963		2197	4300	6497	SO:0001627	intron_variant	124401							g.chr16:4750963G>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+7C>A	16.37:g.4750963G>T			Somatic				ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron	p.P225Q			WXS	Illumina GAIIx	Phase_I	Q6ZW76	ANKS3_HUMAN			7	984	-			0					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.674C>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517850	0.27211	.	.	ENSG00000168096	ENST00000450067	T	0.52754	0.65	3.28	2.31	0.28768	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.09310	N	1	D	0.53151	0.958	P	0.52881	0.712	T	0.39901	-0.9591	8	0.87932	D	0	.	6.5948	0.22666	0.1332:0.0:0.8668:0.0	.	225	Q6ZWA7	.	Q	225	ENSP00000388270:P225Q	ENSP00000388270:P225Q	P	-	2	0	ANKS3	4690964	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	0.362000	0.20284	0.978000	0.38470	0.563000	0.77884	CCG		0.572	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		5	303	5	303	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335306	20335306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:20335306C>A	ENST00000381362.4	-	3	443	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.G123W	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	123					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTGGGTCCCATTCAGCCAC	0.592																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(367-369)Ggg>Tgg		glycoprotein 2 (zymogen granule membrane)							93.0	73.0	80.0					16																	20335306		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335306C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.367G>T	16.37:g.20335306C>A	ENSP00000370767:p.Gly123Trp		Somatic				GP2_ENST00000381362.4_Missense_Mutation_p.G123W|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron	p.G123W			WXS	Illumina GAIIx	Phase_I	P55259	GP2_HUMAN			3	516	-			123					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.367G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924550	0.52653	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99458	-5.93;-5.93	5.02	5.02	0.67125	.	.	.	.	.	D	0.99670	0.9877	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97543	1.0087	9	0.87932	D	0	-23.3519	15.8919	0.79305	0.0:1.0:0.0:0.0	.	123;123	P55259-3;P55259	.;GP2_HUMAN	W	123	ENSP00000304044:G123W;ENSP00000370767:G123W	ENSP00000304044:G123W	G	-	1	0	GP2	20242807	0.996000	0.38824	0.072000	0.20136	0.033000	0.12548	5.114000	0.64648	2.591000	0.87537	0.650000	0.86243	GGG		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		5	92	5	92	---	---	---	---
PAGR1	79447	broad.mit.edu	37	16	29830900	29830900	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:29830900G>T	ENST00000320330.6	+	3	1152	c.590G>T	c.(589-591)cGg>cTg	p.R197L	AC009133.12_ENST00000564980.1_RNA|MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L|MVP_ENST00000452209.2_5'Flank|MVP_ENST00000395353.1_5'Flank|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	197						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											AGCCAGAAACGGGAGGCCCGC	0.577																																						ENST00000320330.6																			0											c.(589-591)cGg>cTg		PAXIP1 associated glutamate-rich protein 1							150.0	164.0	160.0					16																	29830900		2197	4300	6497	SO:0001583	missense	79447							g.chr16:29830900G>T	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.590G>T	16.37:g.29830900G>T	ENSP00000326519:p.Arg197Leu		Somatic				AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L	p.R197L			WXS	Illumina GAIIx	Phase_I					3	1152	+								A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	c.590G>T	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768779	0.90020	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	3.86	0.44501	.	0.055985	0.64402	D	0.000002	T	0.66597	0.2805	M	0.63843	1.955	0.44295	D	0.997166	D	0.62365	0.991	P	0.58172	0.834	T	0.68288	-0.5448	9	0.87932	D	0	-8.5233	10.4827	0.44702	0.1578:0.0:0.8422:0.0	.	197	Q9BTK6	PA1_HUMAN	L	197	.	ENSP00000326519:R197L	R	+	2	0	C16orf53	29738401	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.295000	0.89937	0.812000	0.34326	0.655000	0.94253	CGG		0.577	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		6	278	6	278	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30006001	30006001	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30006001C>A	ENST00000279392.3	-	4	1295	c.465G>T	c.(463-465)agG>agT	p.R155S	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	155	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTCTCCCCTCTGTGCGG	0.567																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(463-465)agG>agT		HIRA interacting protein 3							193.0	204.0	200.0					16																	30006001		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006001C>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.465G>T	16.37:g.30006001C>A	ENSP00000279392:p.Arg155Ser		Somatic				HIRIP3_ENST00000564026.1_Intron	p.R155S	NM_003609.4	NP_003600.2	WXS	Illumina GAIIx	Phase_I	Q9BW71	HIRP3_HUMAN			4	1295	-			155			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.465G>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	0.158	-1.084707	0.01888	.	.	ENSG00000149929	ENST00000279392	T	0.37752	1.18	4.26	-5.33	0.02713	.	1.802200	0.02767	N	0.119227	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.11275	-1.0594	10	0.10636	T	0.68	5.7387	1.8711	0.03208	0.1363:0.4057:0.1939:0.2641	.	155	Q9BW71	HIRP3_HUMAN	S	155	ENSP00000279392:R155S	ENSP00000279392:R155S	R	-	3	2	HIRIP3	29913502	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.733000	0.04898	-0.925000	0.03775	0.591000	0.81541	AGG		0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		11	375	11	375	---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30620869	30620869	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30620869G>T	ENST00000287461.3	-	2	633	c.296C>A	c.(295-297)cCg>cAg	p.P99Q	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	99	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TAGCCCTCTCGGGTACTCCTG	0.557																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(295-297)cCg>cAg		zinc finger protein 689							107.0	100.0	103.0					16																	30620869		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620869G>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.296C>A	16.37:g.30620869G>T	ENSP00000287461:p.Pro99Gln		Somatic				ZNF689_ENST00000566673.1_5'UTR	p.P99Q	NM_138447.1	NP_612456.1	WXS	Illumina GAIIx	Phase_I	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	633	-			99			KRAB.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.296C>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	3.768	-0.048198	0.07407	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.06687	3.27	4.31	-1.76	0.08006	Krueppel-associated box (1);	0.220262	0.23334	N	0.049302	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.27316	0.175	B	0.22753	0.041	T	0.47018	-0.9149	10	0.12103	T	0.63	-2.0091	7.9238	0.29861	0.1536:0.4823:0.3641:0.0	.	99	Q96CS4	ZN689_HUMAN	Q	99	ENSP00000287461:P99Q	ENSP00000287461:P99Q	P	-	2	0	ZNF689	30528370	0.852000	0.29690	0.041000	0.18516	0.292000	0.27327	1.038000	0.30254	-0.139000	0.11414	-0.305000	0.09177	CCG		0.557	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		4	85	4	85	---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57691386	57691386	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57691386C>A	ENST00000388812.4	+	10	1709	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562631.1_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	423					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCACCATTGCCGCCTACCTCT	0.647																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1267-1269)gcC>gcA		G protein-coupled receptor 56							155.0	139.0	144.0					16																	57691386		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57691386C>A	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1269C>A	16.37:g.57691386C>A			Somatic				GPR56_ENST00000388812.4_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A	p.A423A			WXS	Illumina GAIIx	Phase_I	Q9Y653	GPR56_HUMAN			10	1801	+			423					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1269C>A	CCDS32460.1																																																																																				0.647	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			5	222	5	222	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57722301	57722301	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57722301C>A	ENST00000333493.4	+	12	1739	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	526					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTTACCTCCCAAGTCAGA	0.572																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1576-1578)ctC>ctA		G protein-coupled receptor 97							205.0	181.0	189.0					16																	57722301		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57722301C>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1578C>A	16.37:g.57722301C>A			Somatic				RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	p.L526L	NM_170776.4	NP_740746.4	WXS	Illumina GAIIx	Phase_I	Q86Y34	GPR97_HUMAN			12	1739	+			526					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1578C>A	CCDS10786.1																																																																																				0.572	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		7	179	7	179	---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424535	67424535	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:67424535C>A	ENST00000564104.1	-	2	1030	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TPPP3_ENST00000393957.2_Splice_Site_p.K63N|TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	63					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGACTTCCCCCTGACAGGCA	0.532																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(187-189)aaG>aaT		tubulin polymerization-promoting protein family member 3							132.0	137.0	136.0					16																	67424535		2198	4300	6498	SO:0001630	splice_region_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424535C>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.189-1G>T	16.37:g.67424535C>A			Somatic				TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|TPPP3_ENST00000393957.2_Splice_Site_p.K63N	p.K63N			WXS	Illumina GAIIx	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	2	1030	-		Ovarian(137;0.0563)	63					Q49AH9|Q9Y326|Q9Y6H0	Splice_Site	SNP	ENST00000564104.1	37	c.189G>T	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.254834	0.59212	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.58940	0.3;0.3	3.88	2.93	0.34026	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.93978	3.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.76621	-0.2892	10	0.72032	D	0.01	.	5.2725	0.15632	0.0:0.6542:0.0:0.3457	.	63	Q9BW30	TPPP3_HUMAN	N	63	ENSP00000377529:K63N;ENSP00000290942:K63N	ENSP00000290942:K63N	K	-	3	2	TPPP3	65982036	0.903000	0.30736	1.000000	0.80357	0.944000	0.59088	0.335000	0.19806	0.841000	0.35020	0.457000	0.33378	AAG		0.532	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964	Missense_Mutation	7	167	7	167	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72130760	72130760	+	Silent	SNP	G	G	T	rs147413193		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72130760G>T	ENST00000268482.3	+	3	872	c.363G>T	c.(361-363)ccG>ccT	p.P121P	DHX38_ENST00000536867.1_Intron|TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	121					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P121P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATCCCATCCGGGTGGTGTGA	0.537																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			1	Substitution - coding silent(1)	p.P121P(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(361-363)ccG>ccT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							190.0	197.0	194.0					16																	72130760		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130760G>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.363G>T	16.37:g.72130760G>T			Somatic				DHX38_ENST00000536867.1_Intron	p.P121P	NM_014003.3	NP_054722.2	WXS	Illumina GAIIx	Phase_I	Q92620	PRP16_HUMAN			3	872	+		Ovarian(137;0.125)	121					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.363G>T	CCDS10907.1																																																																																				0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		9	279	9	279	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72184682	72184682	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72184682C>A	ENST00000237353.10	-	5	722	c.461G>T	c.(460-462)gGg>gTg	p.G154V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V|PMFBP1_ENST00000537465.1_Missense_Mutation_p.G154V	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	154						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGCTTCTCCCCTGTGTTCTC	0.493																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(460-462)gGg>gTg		polyamine modulated factor 1 binding protein 1							115.0	106.0	109.0					16																	72184682		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184682C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.461G>T	16.37:g.72184682C>A	ENSP00000237353:p.Gly154Val		Somatic				PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V	p.G154V			WXS	Illumina GAIIx	Phase_I	Q8TBY8	PMFBP_HUMAN			5	619	-		Ovarian(137;0.179)	154					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.461G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349941	0.82132	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636;ENST00000535461	T;T;T	0.77489	-1.1;-1.1;2.57	6.17	5.22	0.72569	.	0.000000	0.52532	D	0.000061	T	0.78886	0.4354	N	0.24115	0.695	0.50313	D	0.999865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.988	T	0.76963	-0.2764	10	0.40728	T	0.16	-33.5071	11.8621	0.52471	0.0:0.9187:0.0:0.0813	.	154;154;154	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	V	154;154;9;154	ENSP00000443817:G154V;ENSP00000237353:G154V;ENSP00000347854:G9V	ENSP00000237353:G154V	G	-	2	0	PMFBP1	70742183	0.710000	0.27896	0.995000	0.50966	0.948000	0.59901	0.964000	0.29306	2.941000	0.99782	0.655000	0.94253	GGG		0.493	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		7	117	7	117	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829959	72829959	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72829959G>T	ENST00000268489.5	-	9	7294	c.6622C>A	c.(6622-6624)Cct>Act	p.P2208T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2208					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGTTGTAAGGGGAGTCCTTG	0.527																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6622-6624)Cct>Act		zinc finger homeobox 3							104.0	102.0	103.0					16																	72829959		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829959G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6622C>A	16.37:g.72829959G>T	ENSP00000268489:p.Pro2208Thr		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	p.P2208T	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	7294	-		Ovarian(137;0.13)	2208					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6622C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263161	0.59431	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.91631	-2.88;-2.88	5.51	5.51	0.81932	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.49916	D	0.000133	D	0.95611	0.8573	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95049	0.8185	10	0.48119	T	0.1	.	19.4092	0.94662	0.0:0.0:1.0:0.0	.	2208	Q15911	ZFHX3_HUMAN	T	2208;1294	ENSP00000268489:P2208T;ENSP00000438926:P1294T	ENSP00000268489:P2208T	P	-	1	0	ZFHX3	71387460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.570000	0.86706	0.561000	0.74099	CCT		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	127	7	127	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161416	81161416	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:81161416C>A	ENST00000534142.1	-	0	687				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTCCTCCCCGGTACACAG	0.527																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							63.0	62.0	62.0					16																	81161416		2008	4168	6176			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161416C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161416C>A			Somatic				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_001278425.1	NP_001265354.1	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			0	4354	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.527	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			5	46	5	46	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85952112	85952112	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:85952112C>A	ENST00000268638.5	+	7	1113	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	231					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCCTGTCCCTGAGCCAGCC	0.687																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(691-693)Ctg>Atg		interferon regulatory factor 8							34.0	41.0	38.0					16																	85952112		2178	4253	6431	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952112C>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.691C>A	16.37:g.85952112C>A	ENSP00000268638:p.Leu231Met		Somatic				IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	p.L231M	NM_002163.2	NP_002154.1	WXS	Illumina GAIIx	Phase_I	Q02556	IRF8_HUMAN			7	1113	+		Prostate(104;0.0771)	231					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.691C>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080597	0.76528	.	.	ENSG00000140968	ENST00000268638	D	0.94897	-3.55	4.95	3.98	0.46160	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.179844	0.37053	N	0.002267	D	0.95143	0.8426	L	0.57536	1.79	0.44780	D	0.997782	P	0.51147	0.942	P	0.60345	0.873	D	0.93594	0.6924	10	0.37606	T	0.19	-29.0502	11.3456	0.49559	0.0:0.9151:0.0:0.0849	.	231	Q02556	IRF8_HUMAN	M	231	ENSP00000268638:L231M	ENSP00000268638:L231M	L	+	1	2	IRF8	84509613	0.514000	0.26202	1.000000	0.80357	0.942000	0.58702	1.656000	0.37355	2.453000	0.82957	0.650000	0.86243	CTG		0.687	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		5	88	5	88	---	---	---	---
MNT	4335	broad.mit.edu	37	17	2290812	2290812	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2290812G>T	ENST00000174618.4	-	6	1537	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	378					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		tgtggaggcagaggcgcaggg	0.711																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1132-1134)Ctg>Atg		MAX network transcriptional repressor							65.0	77.0	73.0					17																	2290812		2201	4294	6495	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290812G>T	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1132C>A	17.37:g.2290812G>T	ENSP00000174618:p.Leu378Met		Somatic				MNT_ENST00000575374.1_5'UTR	p.L378M	NM_020310.2	NP_064706.1	WXS	Illumina GAIIx	Phase_I	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1537	-			378					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1132C>A	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095909	0.20552	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.83075	-1.68	4.16	2.16	0.27623	.	2.373290	0.02263	N	0.067726	T	0.73426	0.3585	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.62932	-0.6749	10	0.45353	T	0.12	-0.1189	5.5774	0.17231	0.1102:0.2021:0.6877:0.0	.	378	Q99583	MNT_HUMAN	M	378	ENSP00000174618:L378M	ENSP00000174618:L378M	L	-	1	2	MNT	2237562	0.914000	0.31030	0.921000	0.36526	0.750000	0.42670	1.152000	0.31663	0.424000	0.26061	-0.189000	0.12847	CTG		0.711	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		6	119	6	119	---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2908722	2908722	+	Silent	SNP	C	C	A	rs202208175		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2908722C>A	ENST00000254695.8	+	15	1350	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGTCCCCCCGTTTTCCAGA	0.562																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1258-1260)ccC>ccA		RAP1 GTPase activating protein 2							179.0	181.0	180.0					17																	2908722		1997	4190	6187	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2908722C>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1260C>A	17.37:g.2908722C>A			Somatic				RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	p.P420P	NM_015085.4	NP_055900.4	WXS	Illumina GAIIx	Phase_I	Q684P5	RPGP2_HUMAN			15	1350	+			420			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.1260C>A	CCDS45573.1																																																																																				0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			5	206	5	206	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4542227	4542227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:4542227C>A	ENST00000570836.1	-	5	556	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W|ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	154	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		AGTTTGGCCCCAGCCATATTC	0.537																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(460-462)Ggg>Tgg		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						105.0	102.0	103.0					17																	4542227		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542227C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.460G>T	17.37:g.4542227C>A	ENSP00000458832:p.Gly154Trp		Somatic				ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W|ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W	p.G154W			WXS	Illumina GAIIx	Phase_I	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	5	556	-			154			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.460G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440140	0.63067	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.06849	3.25;3.25	4.58	4.58	0.56647	Lipoxygenase, C-terminal (2);	0.231428	0.33854	N	0.004485	T	0.22003	0.0530	L	0.55481	1.735	0.09310	N	0.999995	D;D;D	0.89917	0.999;0.984;1.0	D;D;D	0.68192	0.954;0.923;0.956	T	0.01238	-1.1409	10	0.87932	D	0	-1.4467	12.7251	0.57166	0.0:1.0:0.0:0.0	.	176;115;154	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	W	154;176	ENSP00000293761:G154W;ENSP00000439855:G176W	ENSP00000293761:G154W	G	-	1	0	ALOX15	4488976	0.013000	0.17824	0.044000	0.18714	0.014000	0.08584	2.808000	0.47963	2.381000	0.81170	0.655000	0.94253	GGG		0.537	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			6	135	6	135	---	---	---	---
ACAP1	9744	broad.mit.edu	37	17	7240646	7240646	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7240646G>T	ENST00000158762.3	+	2	275	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	23	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTATTGAGCTGGTGGAAGCCG	0.582																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(67-69)ctG>ctT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							149.0	138.0	142.0					17																	7240646		2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7240646G>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.69G>T	17.37:g.7240646G>T			Somatic					p.L23L	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			2	275	+			23			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.69G>T	CCDS11101.1																																																																																				0.582	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		6	130	6	130	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10415429	10415429	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:10415429C>A	ENST00000226207.5	-	13	1322	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	410	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTCATTGCCGACCTTGACC	0.463																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1228-1230)Ggc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							310.0	274.0	286.0					17																	10415429		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415429C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1228G>T	17.37:g.10415429C>A	ENSP00000226207:p.Gly410Cys		Somatic				RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.G410C	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			13	1322	-			410			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1228G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646525	0.67358	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.89415	-2.51	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000495	D	0.97219	0.9091	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98448	1.0590	10	0.87932	D	0	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	410	P12882	MYH1_HUMAN	C	410	ENSP00000226207:G410C	ENSP00000226207:G410C	G	-	1	0	MYH1	10356154	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	5.970000	0.70431	2.746000	0.94184	0.655000	0.94253	GGC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		7	282	7	282	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27962986	27962986	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:27962986C>A	ENST00000269033.3	-	14	2332	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	727					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTTTTTACCTTTGACTGTT	0.393																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2179-2181)aaG>aaT		slingshot protein phosphatase 2							115.0	125.0	122.0					17																	27962986		2203	4300	6503	SO:0001630	splice_region_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27962986C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2181+1G>T	17.37:g.27962986C>A			Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	p.K727N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			14	2332	-			727					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Splice_Site	SNP	ENST00000269033.3	37	c.2181G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121092	0.77436	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.55052	0.54;0.54	6.17	6.17	0.99709	.	0.312090	0.39083	N	0.001480	T	0.73140	0.3549	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68534	-0.5383	9	.	.	.	-9.5438	20.8794	0.99867	0.0:1.0:0.0:0.0	.	754;727	F5H527;Q76I76	.;SSH2_HUMAN	N	727;754	ENSP00000269033:K727N;ENSP00000444743:K754N	.	K	-	3	2	SSH2	24987112	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.270000	0.65547	2.941000	0.99782	0.655000	0.94253	AAG		0.393	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	Missense_Mutation	8	209	8	209	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749994	33749994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:33749994C>A	ENST00000394562.1	-	4	577	c.54G>T	c.(52-54)gtG>gtT	p.V18V	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Silent_p.V18V|SLFN12_ENST00000304905.5_Silent_p.V18V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	18							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACTCTTCCCACATCTAGAA	0.403																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(52-54)gtG>gtT		schlafen family member 12							143.0	136.0	139.0					17																	33749994		2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33749994C>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.54G>T	17.37:g.33749994C>A			Somatic				SLFN12_ENST00000304905.5_Silent_p.V18V|SLFN12_ENST00000452764.3_Silent_p.V18V	p.V18V			WXS	Illumina GAIIx	Phase_I	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	577	-		Ovarian(249;0.17)	18					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.54G>T	CCDS11295.1																																																																																				0.403	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		6	177	6	177	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35930983	35930983	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:35930983C>A	ENST00000339208.6	-	10	1240	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Splice_Site_p.R289M	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	367	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAACGCCCCTCTACAAATG	0.433																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1099-1101)aGg>aTg		synergin, gamma							92.0	99.0	97.0					17																	35930983		2203	4300	6503	SO:0001630	splice_region_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35930983C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1099-1G>T	17.37:g.35930983C>A			Somatic				SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000345615.4_Splice_Site_p.R289M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000591288.1_Intron	p.R367M	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			10	1240	-			367			EH.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Splice_Site	SNP	ENST00000339208.6	37	c.1100G>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859827	0.91433	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.44881	0.91;0.91;0.91	5.49	5.49	0.81192	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.045456	0.85682	D	0.000000	T	0.60534	0.2276	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.65815	0.995;0.991;0.995;0.964;0.964	P;P;P;P;P	0.61722	0.893;0.893;0.893;0.643;0.643	T	0.61451	-0.7060	10	0.62326	D	0.03	-15.2357	19.3739	0.94501	0.0:1.0:0.0:0.0	.	289;289;289;367;367	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	M	367;367;289;289	ENSP00000005279:R367M;ENSP00000424893:R289M;ENSP00000377903:R289M	ENSP00000315722:R367M	R	-	2	0	SYNRG	33005096	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.279000	0.65597	2.592000	0.87571	0.555000	0.69702	AGG		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation	6	162	6	162	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627429	37627429	+	Silent	SNP	C	C	A	rs557432023		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:37627429C>A	ENST00000447079.4	+	2	1377	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	CDK12_ENST00000430627.2_Silent_p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	448					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACCCAGAAGTGTAA	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1342-1344)ccC>ccA		cyclin-dependent kinase 12							80.0	83.0	82.0					17																	37627429		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627429C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1344C>A	17.37:g.37627429C>A		TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Silent_p.P448P	p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			2	1377	+			448					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.1344C>A	CCDS11337.1																																																																																				0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		5	95	5	95	---	---	---	---
CASC3	22794	broad.mit.edu	37	17	38325650	38325650	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:38325650C>A	ENST00000264645.7	+	12	2265	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	680	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGCCCTCCCCACCCCGGAGG	0.582																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(2038-2040)cCa>cAa		cancer susceptibility candidate 3							74.0	69.0	71.0					17																	38325650		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38325650C>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.2039C>A	17.37:g.38325650C>A	ENSP00000264645:p.Pro680Gln		Somatic					p.P680Q	NM_007359.4	NP_031385.2	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			12	2265	+			680			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.2039C>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101359	0.76983	.	.	ENSG00000108349	ENST00000264645;ENST00000394114	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70443	-0.4870	9	0.87932	D	0	-8.3739	18.5194	0.90947	0.0:1.0:0.0:0.0	.	680	O15234	CASC3_HUMAN	Q	680	.	ENSP00000264645:P680Q	P	+	2	0	CASC3	35579176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.240000	0.78192	2.778000	0.95560	0.655000	0.94253	CCA		0.582	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		6	101	6	101	---	---	---	---
HAP1	9001	broad.mit.edu	37	17	39881202	39881202	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:39881202G>T	ENST00000310778.5	-	12	1776	c.1767C>A	c.(1765-1767)acC>acA	p.T589T	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T|HAP1_ENST00000393939.2_Silent_p.T512T|HAP1_ENST00000347901.4_Silent_p.T537T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	589	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.T537T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCAGCCCTCGGTCTCCTCTG	0.652																																						ENST00000393939.2																			1	Substitution - coding silent(1)	p.T537T(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1534-1536)acC>acA		huntingtin-associated protein 1							289.0	259.0	269.0					17																	39881202		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881202G>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1767C>A	17.37:g.39881202G>T			Somatic				HAP1_ENST00000310778.5_Silent_p.T589T|HAP1_ENST00000347901.4_Silent_p.T537T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T	p.T512T			WXS	Illumina GAIIx	Phase_I	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1545	-		Breast(137;0.000162)	589			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1536C>A																																																																																					0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		8	358	8	358	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40453403	40453403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40453403C>A	ENST00000345506.4	+	10	1742	c.1100C>A	c.(1099-1101)cCc>cAc	p.P367H	STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAATCCCCCCCAGGTGAAG	0.567																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1099-1101)cCc>cAc		signal transducer and activator of transcription 5A							143.0	122.0	129.0					17																	40453403		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453403C>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1100C>A	17.37:g.40453403C>A	ENSP00000341208:p.Pro367His		Somatic				STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H	p.P367H	NM_003152.3	NP_003143.2	WXS	Illumina GAIIx	Phase_I	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1742	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	367					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.1100C>A	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555251	0.65425	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.88046	-2.33;-2.33;-2.33	4.6	3.63	0.41609	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.057740	0.64402	D	0.000001	D	0.91264	0.7246	L	0.56396	1.775	0.80722	D	1	P;D;D	0.89917	0.943;1.0;1.0	P;D;D	0.83275	0.764;0.996;0.995	D	0.91420	0.5158	10	0.87932	D	0	-13.6497	12.5688	0.56323	0.0:0.9185:0.0:0.0815	.	337;369;367	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	H	367;337;369;367	ENSP00000341208:P367H;ENSP00000443107:P337H;ENSP00000400320:P367H	ENSP00000341208:P367H	P	+	2	0	STAT5A	37706929	1.000000	0.71417	0.854000	0.33618	0.686000	0.39977	6.004000	0.70709	0.945000	0.37605	0.306000	0.20318	CCC		0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		6	83	6	83	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40647096	40647096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40647096G>T	ENST00000343619.4	+	13	1482	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	453					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTTATTGATGGGTGTGTTCT	0.413																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1357-1359)atG>atT		ATPase, H+ transporting, lysosomal V0 subunit a1							302.0	266.0	278.0					17																	40647096		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40647096G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1359G>T	17.37:g.40647096G>T	ENSP00000342951:p.Met453Ile		Somatic				ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I	p.M453I	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	13	1482	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	453					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1359G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657014	0.96724	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.95809	0.8636	H	0.96489	3.83	0.80722	D	1	D;D;D;P;P	0.60575	0.971;0.988;0.988;0.698;0.498	P;D;D;B;B	0.65874	0.902;0.91;0.939;0.338;0.297	D	0.96645	0.9477	10	0.87932	D	0	-32.3613	19.9279	0.97110	0.0:0.0:1.0:0.0	.	410;410;460;453;453	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	I	453;453;453;460;410;99	ENSP00000342951:M453I;ENSP00000444676:M453I;ENSP00000377415:M453I;ENSP00000264649:M460I;ENSP00000443991:M410I;ENSP00000446377:M99I	ENSP00000264649:M460I	M	+	3	0	ATP6V0A1	37900622	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.857000	0.99534	2.715000	0.92844	0.655000	0.94253	ATG		0.413	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		9	214	9	214	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40864402	40864402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40864402C>A	ENST00000428826.2	-	12	1427	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	436					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTTCAGCCCCAGTCCATTCC	0.537																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1306-1308)Ggg>Tgg		enhancer of zeste homolog 1 (Drosophila)							133.0	125.0	128.0					17																	40864402		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40864402C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1306G>T	17.37:g.40864402C>A	ENSP00000404658:p.Gly436Trp		Somatic				EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W	p.G436W			WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	12	1427	-		Breast(137;0.00104)	436					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1306G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544687	0.86022	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.81579	-1.51;-1.51	5.23	5.23	0.72850	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.995;0.988;0.998	D;D;D;D;D	0.73708	0.981;0.98;0.98;0.967;0.974	D	0.91526	0.5238	10	0.87932	D	0	.	18.9873	0.92777	0.0:1.0:0.0:0.0	.	297;396;442;366;436	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	W	439;436;396;297	ENSP00000404658:G436W;ENSP00000404071:G297W	ENSP00000264646:G439W	G	-	1	0	EZH1	38117928	1.000000	0.71417	0.965000	0.40720	0.884000	0.51177	7.572000	0.82409	2.719000	0.93026	0.655000	0.94253	GGG		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	136	6	136	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42828262	42828262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:42828262C>A	ENST00000315005.3	+	14	1627	c.1489C>A	c.(1489-1491)Cct>Act	p.P497T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	497					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTCCTCTTCCCTGAAGCCAG	0.597																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1489-1491)Cct>Act		DBF4 homolog B (S. cerevisiae)							112.0	102.0	106.0					17																	42828262		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828262C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1489C>A	17.37:g.42828262C>A	ENSP00000323663:p.Pro497Thr		Somatic				DBF4B_ENST00000393547.2_Intron	p.P497T	NM_145663.2	NP_663696.1	WXS	Illumina GAIIx	Phase_I	Q8NFT6	DBF4B_HUMAN			14	1627	+		Prostate(33;0.0322)	497					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1489C>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166103	0.21621	.	.	ENSG00000161692	ENST00000315005	T	0.56776	0.44	2.87	0.847	0.18961	.	.	.	.	.	T	0.29126	0.0724	N	0.14661	0.345	0.09310	N	1	P	0.43024	0.798	B	0.38880	0.284	T	0.09422	-1.0675	8	.	.	.	.	5.0066	0.14291	0.0:0.7085:0.0:0.2915	.	497	Q8NFT6	DBF4B_HUMAN	T	497	ENSP00000323663:P497T	.	P	+	1	0	DBF4B	40183788	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.884000	0.04166	0.270000	0.21984	0.313000	0.20887	CCT		0.597	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		5	60	5	60	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43625833	43625833	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:43625833C>A	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							GTCCAACCTCCGTAGTGGGTT	0.507																																						ENST00000586348.1																			0																																																			55073							g.chr17:43625833C>A																													17.37:g.43625833C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	45	+									RNA	SNP	ENST00000586411.1	37																																																																																						0.507	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			7	388	7	388	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44159892	44159892	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:44159892C>A	ENST00000262419.6	-	4	1918	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	483					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGGTACCTCCCCAAGAACTAT	0.388																																						ENST00000262419.6																			0											c.(1447-1449)gGg>gTg		KAT8 regulatory NSL complex subunit 1							68.0	68.0	68.0					17																	44159892		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44159892C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1448G>T	17.37:g.44159892C>A	ENSP00000262419:p.Gly483Val		Somatic				KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V	p.G483V	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			4	1918	-			483					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1448G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768774	0.49680	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.52754	0.65;0.65	4.8	4.8	0.61643	.	0.054578	0.64402	D	0.000001	T	0.57286	0.2043	L	0.41824	1.3	0.80722	D	1	D;P	0.71674	0.998;0.705	D;B	0.73380	0.98;0.264	T	0.51694	-0.8673	10	0.34782	T	0.22	-13.0219	13.5172	0.61547	0.0:1.0:0.0:0.0	.	483;483	C9JHY2;Q7Z3B3	.;K1267_HUMAN	V	483	ENSP00000262419:G483V;ENSP00000387393:G483V	ENSP00000262419:G483V	G	-	2	0	KIAA1267	41515711	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.533000	0.53561	2.652000	0.90054	0.555000	0.69702	GGG		0.388	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		5	36	5	36	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46629480	46629480	+	Silent	SNP	G	G	T	rs182366697		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:46629480G>T	ENST00000470495.1	-	1	1804	c.357C>A	c.(355-357)ccC>ccA	p.P119P	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000498678.1_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron			P14651	HXB3_HUMAN	homeobox B3	119					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGTTGGTGCCGGGACCGCACT	0.602																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(355-357)ccC>ccA		homeobox B3							185.0	207.0	200.0					17																	46629480		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629480G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.357C>A	17.37:g.46629480G>T			Somatic				HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.P119P	p.P119P			WXS	Illumina GAIIx	Phase_I	P14651	HXB3_HUMAN			1	1804	-			119					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.357C>A	CCDS11528.1																																																																																				0.602	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	303	9	303	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56688674	56688674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:56688674C>A	ENST00000240361.8	-	10	1135	c.1050G>T	c.(1048-1050)atG>atT	p.M350I	TEX14_ENST00000389934.3_Missense_Mutation_p.M344I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I			Q8IWB6	TEX14_HUMAN	testis expressed 14	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATCACCTCCATGTGCAGCA	0.507																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1030-1032)atG>atT		testis expressed 14							101.0	92.0	95.0					17																	56688674		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688674C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1050G>T	17.37:g.56688674C>A	ENSP00000240361:p.Met350Ile		Somatic				TEX14_ENST00000240361.8_Missense_Mutation_p.M350I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I	p.M344I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	WXS	Illumina GAIIx	Phase_I	Q8IWB6	TEX14_HUMAN			10	1149	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		350			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1032G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642033	0.87859	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.40225	1.04;1.04;1.04	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.38953	1.18	0.46279	D	0.998968	P;P;P	0.50443	0.823;0.935;0.773	P;P;B	0.54759	0.564;0.76;0.336	T	0.48948	-0.8989	10	0.56958	D	0.05	-13.1113	17.735	0.88390	0.0:1.0:0.0:0.0	.	350;344;344	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	350;344;344	ENSP00000240361:M350I;ENSP00000374584:M344I;ENSP00000268910:M344I	ENSP00000240361:M350I	M	-	3	0	TEX14	54043673	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.061000	0.49963	2.527000	0.85204	0.462000	0.41574	ATG		0.507	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			6	84	6	84	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61562656	61562656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:61562656C>A	ENST00000290866.4	+	13	2005	c.1981C>A	c.(1981-1983)Cag>Aag	p.Q661K	ACE_ENST00000421982.2_5'UTR|ACE_ENST00000577647.1_Missense_Mutation_p.Q87K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	661	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGGACATCCCAGGTGGTGTG	0.567																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(259-261)Cag>Aag		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						171.0	126.0	141.0					17																	61562656		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61562656C>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1981C>A	17.37:g.61562656C>A	ENSP00000290866:p.Gln661Lys		Somatic				ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000290866.4_Missense_Mutation_p.Q661K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K	p.Q87K			WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			2	304	+			661			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.259C>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388037	0.25118	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.09	4.11	0.48088	.	0.320357	0.31884	N	0.006904	T	0.28300	0.0699	L	0.48642	1.525	0.37358	D	0.911111	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.15052	0.012;0.001;0.001;0.001	T	0.14811	-1.0459	10	0.19147	T	0.46	-9.7348	8.8017	0.34912	0.1692:0.6672:0.1636:0.0	.	87;661;87;661	B4DXI3;P12821-2;P12821-3;P12821	.;.;.;ACE_HUMAN	K	661;661;87;87	ENSP00000290866:Q661K;ENSP00000397593:Q661K;ENSP00000290863:Q87K;ENSP00000392247:Q87K	ENSP00000290863:Q87K	Q	+	1	0	ACE	58916388	1.000000	0.71417	0.002000	0.10522	0.835000	0.47333	3.345000	0.52182	1.113000	0.41760	0.462000	0.41574	CAG		0.567	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	54	5	54	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62022837	62022837	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62022837G>T	ENST00000435607.1	-	19	3679	c.3603C>A	c.(3601-3603)tcC>tcA	p.S1201S	SCN4A_ENST00000578147.1_Silent_p.S1201S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1201					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTGACCTCGGAGATGTCGA	0.537																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3601-3603)tcC>tcA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						247.0	248.0	248.0					17																	62022837		2196	4299	6495	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022837G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3603C>A	17.37:g.62022837G>T			Somatic				SCN4A_ENST00000578147.1_Silent_p.S1201S	p.S1201S	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			19	3679	-			1201					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3603C>A	CCDS45761.1																																																																																				0.537	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	316	6	316	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492936	62492936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62492936C>A	ENST00000539111.2	-	1	218	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	51					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCGTTCCCCTCGAGCTCCGCG	0.607																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(151-153)Gag>Tag		polymerase (DNA directed), gamma 2, accessory subunit							84.0	88.0	86.0					17																	62492936		2203	4300	6503	SO:0001587	stop_gained	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492936C>A	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.151G>T	17.37:g.62492936C>A	ENSP00000442563:p.Glu51*		Somatic					p.E51*	NM_007215.3	NP_009146.2	WXS	Illumina GAIIx	Phase_I	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	218	-	Breast(5;2.15e-14)		51					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Nonsense_Mutation	SNP	ENST00000539111.2	37	c.151G>T	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043275	0.75732	.	.	ENSG00000256525	ENST00000539111	.	.	.	4.45	3.47	0.39725	.	0.960451	0.08504	N	0.936008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.3558	8.7132	0.34395	0.0:0.3987:0.462:0.1393	.	.	.	.	X	51	.	ENSP00000442563:E51X	E	-	1	0	POLG2	59923398	0.008000	0.16893	0.002000	0.10522	0.010000	0.07245	0.587000	0.23909	1.107000	0.41642	-0.270000	0.10280	GAG		0.607	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		5	160	5	160	---	---	---	---
SOX9	6662	broad.mit.edu	37	17	70119738	70119738	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:70119738C>A	ENST00000245479.2	+	3	1112	c.740C>A	c.(739-741)cCg>cAg	p.P247Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	247					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GACGTGCAGCCGGGCAAGGCT	0.632																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(739-741)cCg>cAg		SRY (sex determining region Y)-box 9							74.0	97.0	89.0					17																	70119738		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119738C>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.740C>A	17.37:g.70119738C>A	ENSP00000245479:p.Pro247Gln		Somatic					p.P247Q	NM_000346.3	NP_000337.1	WXS	Illumina GAIIx	Phase_I	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1112	+		Colorectal(1115;0.245)	247					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.740C>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702157	0.68501	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.83591	-1.74	4.68	4.68	0.58851	.	0.373699	0.27691	N	0.018255	D	0.86740	0.6005	M	0.75447	2.3	0.58432	D	0.999996	P	0.52842	0.956	P	0.52217	0.693	D	0.84918	0.0852	10	0.19590	T	0.45	.	17.1828	0.86859	0.0:1.0:0.0:0.0	.	247	P48436	SOX9_HUMAN	Q	247	ENSP00000245479:P247Q	ENSP00000245479:P247Q	P	+	2	0	SOX9	67631333	0.997000	0.39634	0.980000	0.43619	0.840000	0.47671	4.559000	0.60796	2.145000	0.66743	0.462000	0.41574	CCG		0.632	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		5	190	5	190	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73658781	73658781	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:73658781C>A	ENST00000317905.5	-	4	708	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000420326.2_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L|RECQL5_ENST00000584999.1_Silent_p.L183L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCATGTCCCAGGCGGGAGC	0.577								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(547-549)ctG>ctT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							120.0	127.0	125.0					17																	73658781		2203	4300	6503	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658781C>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.549G>T	17.37:g.73658781C>A			Somatic				RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000584999.1_Silent_p.L183L|RECQL5_ENST00000317905.5_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L	p.L183L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	WXS	Illumina GAIIx	Phase_I	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	708	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		183			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.549G>T	CCDS42380.1																																																																																				0.577	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		8	244	8	244	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78354681	78354681	+	Missense_Mutation	SNP	G	G	T	rs371619739		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:78354681G>T	ENST00000582970.1	+	56	13834	c.13691G>T	c.(13690-13692)cGg>cTg	p.R4564L	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4564					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCCGCAGCGGAGAGACGTG	0.607																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13690-13692)cGg>cTg		ring finger protein 213							176.0	180.0	179.0					17																	78354681		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78354681G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13691G>T	17.37:g.78354681G>T	ENSP00000464087:p.Arg4564Leu		Somatic				CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L	p.R4564L	NM_001256071.1	NP_001243000.1	WXS	Illumina GAIIx	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		56	13834	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13691G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784271	0.31593	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24350	1.86	5.26	-10.1	0.00402	.	5.013340	0.00397	N	0.000053	T	0.15912	0.0383	L	0.39898	1.24	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.09377	0.002;0.004	T	0.10543	-1.0625	10	0.26408	T	0.33	.	5.468	0.16654	0.518:0.1277:0.2876:0.0666	.	4613;2637	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4564;4613;2637	ENSP00000338218:R2637L	ENSP00000338218:R2637L	R	+	2	0	RNF213	75969276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.212000	0.17497	-1.377000	0.02123	-2.244000	0.00286	CGG		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	263	5	263	---	---	---	---
ALYREF	10189	broad.mit.edu	37	17	79848574	79848574	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:79848574G>T	ENST00000331204.4	-	2	386	c.360C>A	c.(358-360)gcC>gcA	p.A120A	ANAPC11_ENST00000578544.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ALYREF_ENST00000505490.2_Silent_p.A127A|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000572851.2_5'Flank|ANAPC11_ENST00000344877.5_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	120	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										CCTGAATATCGGCGTCTGAGA	0.592																																						ENST00000331204.4																			0											c.(358-360)gcC>gcA		Aly/REF export factor							82.0	74.0	77.0					17																	79848574		2203	4300	6503	SO:0001819	synonymous_variant	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79848574G>T	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.360C>A	17.37:g.79848574G>T			Somatic				ALYREF_ENST00000505490.2_Silent_p.A127A|ALYREF_ENST00000512673.1_5'UTR	p.A120A	NM_005782.3	NP_005773.3	WXS	Illumina GAIIx	Phase_I	Q86V81	THOC4_HUMAN			2	386	-			120			Ala/Arg/Gly-rich.|RRM.		O43672	Silent	SNP	ENST00000331204.4	37	c.360C>A																																																																																					0.592	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		5	91	5	91	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826433	13826433	+	Silent	SNP	C	C	A	rs142471410		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:13826433C>A	ENST00000324750.3	+	1	891	c.669C>A	c.(667-669)ccC>ccA	p.P223P	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.P223P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGGCTCTGCCCGGGGCCAGCT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19543	0.001		0.0	False		,,,				2504	0.0					ENST00000324750.3																			1	Substitution - coding silent(1)	p.P223P(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(667-669)ccC>ccA		melanocortin 5 receptor							233.0	201.0	212.0					18																	13826433		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826433C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.669C>A	18.37:g.13826433C>A			Somatic					p.P223P	NM_005913.2	NP_005904.1	WXS	Illumina GAIIx	Phase_I	P33032	MC5R_HUMAN			1	891	+			223	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).				B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.669C>A	CCDS11868.1																																																																																				0.622	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		6	274	6	274	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50848421	50848421	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:50848421G>T	ENST00000442544.2	+	14	2674	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	DCC_ENST00000412726.1_Silent_p.L534L|DCC_ENST00000581580.1_Silent_p.L341L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	686	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCATAGGACTGGAGAAAGGAA	0.438																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2056-2058)ctG>ctT		deleted in colorectal carcinoma							107.0	102.0	103.0					18																	50848421		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50848421G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2058G>T	18.37:g.50848421G>T			Somatic				DCC_ENST00000581580.1_Silent_p.L341L|DCC_ENST00000412726.1_Silent_p.L534L	p.L686L	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	14	2674	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	686			Fibronectin type-III 3.			Silent	SNP	ENST00000442544.2	37	c.2058G>T	CCDS11952.1																																																																																				0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	99	5	99	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54591261	54591261	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:54591261G>T	ENST00000254442.3	+	22	3846	c.3635G>T	c.(3634-3636)tGg>tTg	p.W1212L	WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1212					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACTGTTTGGGAGCCTTAC	0.502																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3634-3636)tGg>tTg		WD repeat domain 7							204.0	173.0	184.0					18																	54591261		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591261G>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3635G>T	18.37:g.54591261G>T	ENSP00000254442:p.Trp1212Leu		Somatic				WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	p.W1212L	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3846	+			1212					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3635G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690601	0.88735	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.61392	0.11;2.3	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.67397	2.05	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.77803	-0.2451	10	0.87932	D	0	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	1179;1212	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	1212;1179;537;1179	ENSP00000254442:W1212L;ENSP00000350187:W1179L	ENSP00000254442:W1212L	W	+	2	0	WDR7	52742259	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	TGG		0.502	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	165	6	165	---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7595295	7595295	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7595295C>A	ENST00000264079.6	+	12	1608	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	495					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCTTCTCCCAGCTCTACCT	0.587																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1483-1485)Cag>Aag		mucolipin 1							256.0	240.0	246.0					19																	7595295		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595295C>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1483C>A	19.37:g.7595295C>A	ENSP00000264079:p.Gln495Lys		Somatic					p.Q495K	NM_020533.2	NP_065394.1	WXS	Illumina GAIIx	Phase_I	Q9GZU1	MCLN1_HUMAN			12	1608	+			495					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1483C>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990837	0.74703	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69435	-0.4	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	N	0.17800	0.525	0.80722	D	1	B;B	0.28470	0.094;0.213	B;B	0.28139	0.084;0.086	T	0.51172	-0.8739	10	0.32370	T	0.25	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	460;495	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	K	495;460	ENSP00000264079:Q495K	ENSP00000264079:Q495K	Q	+	1	0	MCOLN1	7501295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.694000	0.61760	2.478000	0.83669	0.563000	0.77884	CAG		0.587	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		8	349	8	349	---	---	---	---
FCER2	2208	broad.mit.edu	37	19	7764643	7764643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7764643C>A	ENST00000346664.5	-	2	216	c.4G>T	c.(4-6)Gag>Tag	p.E2*	FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*|FCER2_ENST00000360067.4_5'Flank	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	2					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGACCTTCCTCCATGGCGGTC	0.542																																						ENST00000346664.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(4-6)Gag>Tag		Fc fragment of IgE, low affinity II, receptor for (CD23)							187.0	132.0	151.0					19																	7764643		2203	4300	6503	SO:0001587	stop_gained	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7764643C>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.4G>T	19.37:g.7764643C>A	ENSP00000264072:p.Glu2*		Somatic				FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*	p.E2*	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	WXS	Illumina GAIIx	Phase_I	P06734	FCER2_HUMAN			2	216	-			2						Nonsense_Mutation	SNP	ENST00000346664.5	37	c.4G>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158852	0.94686	.	.	ENSG00000104921	ENST00000346664	.	.	.	4.29	4.29	0.51040	.	0.000000	0.37095	N	0.002249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.4508	0.55677	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000264072:E2X	E	-	1	0	FCER2	7670643	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.562000	0.36353	2.385000	0.81259	0.655000	0.94253	GAG		0.542	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		6	73	6	73	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9050229	9050229	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:9050229C>A	ENST00000397910.4	-	5	31605	c.31402G>T	c.(31402-31404)Ggg>Tgg	p.G10468W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10470	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTTTGTCCCTCCTGTGTGT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31402-31404)Ggg>Tgg		mucin 16, cell surface associated							295.0	287.0	290.0					19																	9050229		2047	4192	6239	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9050229C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31402G>T	19.37:g.9050229C>A	ENSP00000381008:p.Gly10468Trp		Somatic					p.G10468W	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	31605	-			10470			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31402G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.496	0.276464	0.10403	.	.	ENSG00000181143	ENST00000397910	T	0.03689	3.84	4.09	0.768	0.18487	.	.	.	.	.	T	0.03011	0.0089	L	0.36672	1.1	.	.	.	B	0.31459	0.324	B	0.25987	0.065	T	0.35276	-0.9795	8	0.87932	D	0	.	3.4486	0.07490	0.2157:0.569:0.0:0.2152	.	10468	B5ME49	.	W	10468	ENSP00000381008:G10468W	ENSP00000381008:G10468W	G	-	1	0	MUC16	8911229	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.022000	0.12480	0.261000	0.21753	0.580000	0.79431	GGG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	305	7	305	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10445903	10445903	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:10445903C>A	ENST00000160262.5	-	4	984	c.776G>T	c.(775-777)gGg>gTg	p.G259V	ICAM3_ENST00000589261.1_Missense_Mutation_p.G182V|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	259	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CATCTGGTCCCCCAGCGCCAG	0.662																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(544-546)gGg>gTg		intercellular adhesion molecule 3							99.0	108.0	105.0					19																	10445903		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445903C>A		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.776G>T	19.37:g.10445903C>A	ENSP00000160262:p.Gly259Val		Somatic				ICAM3_ENST00000160262.5_Missense_Mutation_p.G259V	p.G182V			WXS	Illumina GAIIx	Phase_I	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	1077	-			259			Ig-like C2-type 2.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.545G>T	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676032	0.67928	.	.	ENSG00000076662	ENST00000160262	T	0.08102	3.13	5.06	5.06	0.68205	Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000065	T	0.31389	0.0795	M	0.82517	2.595	0.49130	D	0.999756	D	0.89917	1.0	D	0.79784	0.993	T	0.04915	-1.0918	10	0.87932	D	0	-40.1548	14.2468	0.65993	0.0:1.0:0.0:0.0	.	259	P32942	ICAM3_HUMAN	V	259	ENSP00000160262:G259V	ENSP00000160262:G259V	G	-	2	0	ICAM3	10306903	0.989000	0.36119	0.946000	0.38457	0.396000	0.30629	3.674000	0.54598	2.492000	0.84095	0.462000	0.41574	GGG		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			7	170	7	170	---	---	---	---
ZNF69	7620	broad.mit.edu	37	19	12015573	12015573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:12015573C>A	ENST00000429654.2	+	4	501	c.361C>A	c.(361-363)Cct>Act	p.P121T	ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAAAGCTTCTCCTGAAATAAA	0.398																																						ENST00000429654.2																			0				endometrium(1)|large_intestine(1)|skin(2)	4						c.(361-363)Cct>Act		zinc finger protein 69							150.0	153.0	152.0					19																	12015573		2203	4300	6503	SO:0001583	missense	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:12015573C>A	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.361C>A	19.37:g.12015573C>A	ENSP00000402985:p.Pro121Thr		Somatic				ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T	p.P121T			WXS	Illumina GAIIx	Phase_I	Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	4	501	+			121					Q86VA7	Missense_Mutation	SNP	ENST00000429654.2	37	c.361C>A		.	.	.	.	.	.	.	.	.	.	c	3.316	-0.139818	0.06669	.	.	ENSG00000198429	ENST00000429654;ENST00000445911;ENST00000340180	T;T;T	0.07567	3.18;4.41;4.47	1.05	-1.91	0.07641	.	.	.	.	.	T	0.03136	0.0092	N	0.03177	-0.4	0.09310	N	1	P	0.47545	0.897	P	0.47941	0.562	T	0.10132	-1.0643	9	0.02654	T	1	.	2.6274	0.04933	0.4932:0.263:0.0:0.2438	.	107	C9JR48	.	T	121;107;107	ENSP00000402985:P121T;ENSP00000388784:P107T;ENSP00000345333:P107T	ENSP00000345333:P107T	P	+	1	0	ZNF69	11876573	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.679000	0.05217	-0.491000	0.04670	CCT		0.398	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		6	193	6	193	---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000586783.1	-	2	85	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000454313.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(85-87)tAt>tCt		chromosome 19 open reading frame 57							171.0	182.0	178.0					19																	14006305		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14006305T>G	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.86A>C	19.37:g.14006305T>G	ENSP00000465822:p.Tyr29Ser		Somatic				C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S	p.Y29S			WXS	Illumina GAIIx	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	144	-			29					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.86A>C		.	.	.	.	.	.	.	.	.	.	T	7.625	0.677669	0.14841	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.28069	1.63;1.63	4.12	-0.64	0.11493	.	1.505870	0.04592	N	0.396936	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16482	-1.0401	10	0.21540	T	0.41	-0.289	0.4011	0.00426	0.1812:0.2239:0.1873:0.4076	.	29	Q0VDD7-2	.	S	29	ENSP00000404382:Y29S;ENSP00000254336:Y29S	ENSP00000254336:Y29S	Y	-	2	0	C19orf57	13867305	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.513000	0.06305	-0.193000	0.10415	0.533000	0.62120	TAT		0.547	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		8	232	8	232	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512026	15512026	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:15512026C>A	ENST00000397410.5	-	5	881	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	251						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGCCAAACCCGAAACCAAAG	0.627																																						ENST00000397410.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(751-753)Ggg>Tgg		A kinase (PRKA) anchor protein 8-like							129.0	145.0	140.0					19																	15512026		1966	4139	6105	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512026C>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.751G>T	19.37:g.15512026C>A	ENSP00000380557:p.Gly251Trp		Somatic				AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W|AKAP8L_ENST00000595879.1_5'UTR	p.G251W	NM_014371.2	NP_055186.2	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			5	881	-								B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.751G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511884	0.64522	.	.	ENSG00000011243	ENST00000397410	T	0.59224	0.28	4.74	3.71	0.42584	.	0.127305	0.51477	D	0.000081	T	0.64638	0.2616	L	0.43923	1.385	0.32121	N	0.588056	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.979;1.0	T	0.69258	-0.5192	10	0.87932	D	0	-17.8142	7.8871	0.29656	0.0:0.8894:0.0:0.1106	.	190;21;251;251	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	251	ENSP00000380557:G251W	ENSP00000380557:G251W	G	-	1	0	AKAP8L	15373026	0.989000	0.36119	0.752000	0.31206	0.936000	0.57629	2.765000	0.47621	2.194000	0.70268	0.491000	0.48974	GGG		0.627	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		8	298	8	298	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18775156	18775156	+	Missense_Mutation	SNP	C	C	A	rs202208933		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18775156C>A	ENST00000300976.4	+	2	259	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	57										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCCTCCGCGCTCAGGG	0.632																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(169-171)Cgc>Agc		kelch-like family member 26							94.0	104.0	100.0					19																	18775156		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775156C>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.169C>A	19.37:g.18775156C>A	ENSP00000300976:p.Arg57Ser		Somatic				KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S|KLHL26_ENST00000596843.1_3'UTR	p.R57S	NM_018316.1	NP_060786.1	WXS	Illumina GAIIx	Phase_I	Q53HC5	KLH26_HUMAN			2	259	+			57					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.169C>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606781	0.87157	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.72942	-0.7	4.14	4.14	0.48551	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91385	0.5130	10	0.87932	D	0	.	15.7475	0.77958	0.0:1.0:0.0:0.0	.	57	Q53HC5	KLH26_HUMAN	S	57	ENSP00000300976:R57S	ENSP00000300976:R57S	R	+	1	0	KLHL26	18636156	1.000000	0.71417	0.247000	0.24249	0.891000	0.51852	4.558000	0.60789	2.016000	0.59253	0.561000	0.74099	CGC		0.632	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		5	187	5	187	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19741286	19741286	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:19741286C>A	ENST00000203556.4	-	20	2670	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	LPAR2_ENST00000407877.3_5'Flank|LPAR2_ENST00000586703.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W|LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000589311.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	845					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCTTCCCCTCCCCCATCT	0.537																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2533-2535)Ggg>Tgg		GEM interacting protein							182.0	161.0	168.0					19																	19741286		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19741286C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2533G>T	19.37:g.19741286C>A	ENSP00000203556:p.Gly845Trp		Somatic				GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W	p.G845W	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			20	2670	-			845					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2533G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455679	0.43634	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.24908	1.85;1.83	3.91	1.8	0.24995	.	1.037320	0.07689	N	0.938412	T	0.27384	0.0672	L	0.27053	0.805	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.53722	0.733;0.733;0.733	T	0.20240	-1.0281	10	0.72032	D	0.01	-6.8279	6.2339	0.20752	0.0:0.775:0.0:0.225	.	816;819;845	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	W	845;816	ENSP00000203556:G845W;ENSP00000397075:G816W	ENSP00000203556:G845W	G	-	1	0	GMIP	19602286	0.002000	0.14202	0.060000	0.19600	0.881000	0.50899	0.933000	0.28897	0.635000	0.30488	0.561000	0.74099	GGG		0.537	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		7	115	7	115	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769525	31769525	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:31769525C>A	ENST00000240587.4	-	2	1501	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	392					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCGAGCTCCCACACTCCATG	0.547																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1174-1176)Ggg>Tgg		teashirt zinc finger homeobox 3							169.0	158.0	162.0					19																	31769525		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769525C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1174G>T	19.37:g.31769525C>A	ENSP00000240587:p.Gly392Trp		Somatic					p.G392W	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1501	-	Esophageal squamous(110;0.226)		392					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1174G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718510	0.68844	.	.	ENSG00000121297	ENST00000240587	T	0.37411	1.2	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53774	-0.8391	10	0.87932	D	0	-40.8612	19.8932	0.96939	0.0:1.0:0.0:0.0	.	392	Q63HK5	TSH3_HUMAN	W	392	ENSP00000240587:G392W	ENSP00000240587:G392W	G	-	1	0	TSHZ3	36461365	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.461000	0.80834	2.698000	0.92095	0.655000	0.94253	GGG		0.547	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	187	6	187	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33706825	33706825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:33706825G>T	ENST00000253188.4	-	2	352	c.206C>A	c.(205-207)tCa>tAa	p.S69*	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	69					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGCCTGAGTGCTCCAG	0.667																																						ENST00000253188.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(205-207)tCa>tAa		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							33.0	33.0	33.0					19																	33706825		2200	4298	6498	SO:0001587	stop_gained	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706825G>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.206C>A	19.37:g.33706825G>T	ENSP00000253188:p.Ser69*		Somatic					p.S69*	NM_019849.2	NP_062823.1	WXS	Illumina GAIIx	Phase_I	Q9NS82	AAA1_HUMAN			2	352	-	Esophageal squamous(110;0.137)							B2RE84	Nonsense_Mutation	SNP	ENST00000253188.4	37	c.206C>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715961	0.96830	.	.	ENSG00000130876	ENST00000253188	.	.	.	4.79	3.74	0.42951	.	0.285244	0.33438	N	0.004907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1759	0.65542	0.0:0.1509:0.8491:0.0	.	.	.	.	X	69	.	ENSP00000253188:S69X	S	-	2	0	SLC7A10	38398665	1.000000	0.71417	0.763000	0.31416	0.728000	0.41692	5.550000	0.67268	1.025000	0.39708	0.456000	0.33151	TCA		0.667	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		4	30	4	30	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34884859	34884859	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:34884859C>A	ENST00000356487.5	+	12	1191	c.950C>A	c.(949-951)cCc>cAc	p.P317H	GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000415930.3_Missense_Mutation_p.P328H	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	317					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AAGAACGCCCCCGTCTTGCTG	0.617																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(982-984)cCc>cAc		glucose-6-phosphate isomerase							118.0	112.0	114.0					19																	34884859		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884859C>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.950C>A	19.37:g.34884859C>A	ENSP00000348877:p.Pro317His		Somatic				GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000356487.5_Missense_Mutation_p.P317H	p.P328H	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			12	1153	+	Esophageal squamous(110;0.162)		317					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.983C>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927814	0.52759	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94758	-3.51;-3.51	5.65	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	-0.3343	15.9231	0.79590	0.1364:0.8636:0.0:0.0	.	289;328;290;317	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	H	328;317	ENSP00000405573:P328H;ENSP00000348877:P317H	ENSP00000348877:P317H	P	+	2	0	GPI	39576699	1.000000	0.71417	0.814000	0.32528	0.001000	0.01503	7.487000	0.81328	1.373000	0.46208	-0.188000	0.12872	CCC		0.617	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			6	151	6	151	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35786796	35786796	+	Silent	SNP	C	C	A	rs11550209		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:35786796C>A	ENST00000392213.3	+	4	486	c.327C>A	c.(325-327)ccC>ccA	p.P109P	MAG_ENST00000361922.4_Silent_p.P109P|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000597035.1_Intron	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	109	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACGTCAGCCCCGAGCTGGGCG	0.647																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(325-327)ccC>ccA		myelin associated glycoprotein							99.0	104.0	102.0					19																	35786796		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786796C>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.327C>A	19.37:g.35786796C>A			Somatic				MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000392213.3_Silent_p.P109P	p.P109P	NM_080600.2	NP_542167.1	WXS	Illumina GAIIx	Phase_I	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	477	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	109			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.327C>A	CCDS12455.1																																																																																				0.647	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	188	5	188	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTGGTCACCCGTTACCATGA	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1882-1884)acG>acT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						155.0	145.0	148.0					19																	36046700		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046700C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1884G>T	19.37:g.36046700C>A			Somatic					p.T628T	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		13	1912	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		628					O00738	Silent	SNP	ENST00000262623.3	37	c.1884G>T	CCDS12467.1																																																																																				0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		6	206	6	206	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38895577	38895577	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:38895577C>A	ENST00000252530.5	+	4	398	c.379C>A	c.(379-381)Cgc>Agc	p.R127S	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	127										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGCCACCCGCCTCCTGTG	0.572																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(379-381)Cgc>Agc		family with sequence similarity 98, member C							173.0	182.0	179.0					19																	38895577		2009	4177	6186	SO:0001583	missense	147965							g.chr19:38895577C>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.379C>A	19.37:g.38895577C>A	ENSP00000252530:p.Arg127Ser		Somatic				FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S|FAM98C_ENST00000588262.1_Intron	p.R127S	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	398	+	all_cancers(60;3.95e-06)		127					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.379C>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114628	0.56505	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.51817	0.69;0.69	4.54	4.54	0.55810	.	0.000000	0.48767	D	0.000164	T	0.69351	0.3101	M	0.83953	2.67	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74172	-0.3751	10	0.72032	D	0.01	-21.2674	12.7056	0.57060	0.0:1.0:0.0:0.0	.	127;127	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	S	127	ENSP00000252530:R127S;ENSP00000340348:R127S	ENSP00000252530:R127S	R	+	1	0	FAM98C	43587417	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	3.515000	0.53429	2.345000	0.79718	0.558000	0.71614	CGC		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		7	282	7	282	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39219698	39219698	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39219698C>A	ENST00000252699.2	+	20	2557	c.2481C>A	c.(2479-2481)acC>acA	p.T827T	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Silent_p.T437T|ACTN4_ENST00000390009.3_Silent_p.T608T	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	827	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTGTGACCTTCCAAGCCT	0.597																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2479-2481)acC>acA		actinin, alpha 4							131.0	102.0	112.0					19																	39219698		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219698C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2481C>A	19.37:g.39219698C>A			Somatic				ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.T608T|ACTN4_ENST00000424234.2_Silent_p.T437T	p.T827T	NM_004924.4	NP_004915.2	WXS	Illumina GAIIx	Phase_I	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2557	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		827			EF-hand 2.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2481C>A	CCDS12518.1																																																																																				0.597	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			6	153	6	153	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39870679	39870679	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39870679C>A	ENST00000314471.6	+	12	2639	c.1604C>A	c.(1603-1605)cCg>cAg	p.P535Q	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGACATTCCCGCGCAAAGCC	0.577																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1603-1605)cCg>cAg		sterile alpha motif domain containing 4B							50.0	46.0	47.0					19																	39870679		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39870679C>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1604C>A	19.37:g.39870679C>A	ENSP00000317224:p.Pro535Gln		Somatic				SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	p.P535Q	NM_018028.2	NP_060498.2	WXS	Illumina GAIIx	Phase_I	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		12	2639	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		535					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1604C>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405558	0.83230	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.74	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.67397	2.05	0.49483	D	0.99979	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77239	-0.2661	9	0.87932	D	0	.	11.0935	0.48130	0.0:0.9088:0.0:0.0912	.	535;535	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	Q	535	.	ENSP00000317224:P535Q	P	+	2	0	SAMD4B	44562519	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	5.567000	0.67378	1.349000	0.45751	0.460000	0.39030	CCG		0.577	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		4	41	4	41	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096743	41096743	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:41096743C>A	ENST00000291842.5	+	17	1925	c.1876C>A	c.(1876-1878)Cgc>Agc	p.R626S	LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	626					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCTCACCCCGCATCTCCCT	0.647																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1876-1878)Cgc>Agc		SH3KBP1 binding protein 1							50.0	56.0	54.0					19																	41096743		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096743C>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1876C>A	19.37:g.41096743C>A	ENSP00000291842:p.Arg626Ser		Somatic				SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S	p.R626S	NM_138392.3	NP_612401.2	WXS	Illumina GAIIx	Phase_I	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1925	+			626					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1876C>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.254055	0.01457	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.41065	1.01	4.82	3.76	0.43208	.	2.292210	0.01648	N	0.024423	T	0.20820	0.0501	N	0.02011	-0.69	0.40801	D	0.983347	B;B;B;B;B	0.19200	0.0;0.002;0.034;0.001;0.02	B;B;B;B;B	0.17433	0.001;0.001;0.018;0.0;0.008	T	0.37865	-0.9687	10	0.02654	T	1	-18.5526	12.0572	0.53542	0.1801:0.8199:0.0:0.0	.	504;406;463;626;626	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	S	626;406	ENSP00000291842:R626S	ENSP00000291842:R626S	R	+	1	0	SHKBP1	45788583	0.857000	0.29778	0.090000	0.20809	0.004000	0.04260	2.910000	0.48766	1.108000	0.41662	0.561000	0.74099	CGC		0.647	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	71	4	71	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42222166	42222166	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:42222166G>T	ENST00000221992.6	+	6	1471	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	453	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGATTGATGGGAACATCCA	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1357-1359)Ggg>Tgg		carcinoembryonic antigen-related cell adhesion molecule 5							137.0	110.0	119.0					19																	42222166		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42222166G>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1357G>T	19.37:g.42222166G>T	ENSP00000221992:p.Gly453Trp		Somatic				CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron	p.G453W	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1471	+			453			Ig-like 5.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1357G>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.44|12.44	1.939108|1.939108	0.34189|0.34189	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|D	0.79749|0.94457	-1.3;-1.3|-3.43	2.39|2.39	2.39|2.39	0.29439|0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	D|D	0.97923|0.97923	0.9317|0.9317	H|H	0.98965|0.98965	4.385|4.385	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91596|0.91596	0.5291|0.5291	9|6	0.87932|.	D|.	0|.	.|.	8.4077|8.4077	0.32625|0.32625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453|.	P06731|.	CEAM5_HUMAN|.	W|L	453;453;171|448	ENSP00000221992:G453W;ENSP00000385072:G453W|ENSP00000381600:W448L	ENSP00000221992:G453W|.	G|W	+|+	1|2	0|0	CEACAM5|CEACAM5	46914006|46914006	0.030000|0.030000	0.19436|0.19436	0.041000|0.041000	0.18516|0.18516	0.014000|0.014000	0.08584|0.08584	1.360000|1.360000	0.34125|0.34125	1.668000|1.668000	0.50843|0.50843	0.531000|0.531000	0.56144|0.56144	GGG|TGG		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	89	5	89	---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43031277	43031277	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43031277G>T	ENST00000161559.6	-	2	474	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	114	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTGTCATTCTGGGTGACGTTC	0.473																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(340-342)Cag>Aag		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						363.0	317.0	332.0					19																	43031277		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031277G>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.340C>A	19.37:g.43031277G>T	ENSP00000161559:p.Gln114Lys		Somatic				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K	p.Q114K	NM_001712.4	NP_001703.2	WXS	Illumina GAIIx	Phase_I	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	474	-		Prostate(69;0.00682)	114			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.340C>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	2.005	-0.428536	0.04701	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	3.6	1.37	0.22104	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	L	0.56340	1.77	0.19575	N	0.999965	B;B;B;B;B;B;B;B;B;B	0.26363	0.021;0.147;0.084;0.147;0.008;0.019;0.008;0.092;0.004;0.093	B;B;B;B;B;B;B;B;B;B	0.38056	0.008;0.172;0.077;0.172;0.048;0.029;0.013;0.172;0.048;0.264	T	0.48410	-0.9038	9	0.18276	T	0.48	.	4.3388	0.11099	0.1348:0.2375:0.6277:0.0	.	114;114;114;114;114;114;114;114;114;114	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	K	114;114;114;141;74;114;114;114;74;114;114;114	ENSP00000161559:Q114K;ENSP00000351165:Q114K;ENSP00000325946:Q114K;ENSP00000244291:Q114K;ENSP00000384709:Q114K;ENSP00000384083:Q114K;ENSP00000312184:Q74K	ENSP00000161559:Q114K	Q	-	1	0	CEACAM1	47723117	0.023000	0.18921	0.452000	0.26994	0.105000	0.19272	0.570000	0.23653	0.452000	0.26830	0.561000	0.74099	CAG		0.473	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		9	412	9	412	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43243013	43243013	+	Missense_Mutation	SNP	C	C	A	rs267605518		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43243013C>A	ENST00000327495.5	-	2	477	c.293G>T	c.(292-294)cGa>cTa	p.R98L	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	98	Ig-like V-type.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(292-294)cGa>cTa		pregnancy specific beta-1-glycoprotein 3							387.0	359.0	369.0					19																	43243013		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43243013C>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.293G>T	19.37:g.43243013C>A	ENSP00000332215:p.Arg98Leu		Somatic				PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	p.R98L	NM_021016.3	NP_066296.2	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			2	477	-		Prostate(69;0.00682)	98			Ig-like V-type.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.293G>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	12.94	2.088386	0.36855	.	.	ENSG00000221826	ENST00000327495	T	0.72505	-0.66	1.39	1.39	0.22231	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86969	0.6061	H	0.97983	4.12	0.09310	N	1	D;D	0.69078	0.997;0.997	P;D	0.65573	0.901;0.936	T	0.74225	-0.3734	9	0.87932	D	0	.	6.2321	0.20740	0.0:1.0:0.0:0.0	.	76;98	Q08266;Q16557	.;PSG3_HUMAN	L	98	ENSP00000332215:R98L	ENSP00000332215:R98L	R	-	2	0	PSG3	47934853	0.000000	0.05858	0.009000	0.14445	0.050000	0.14768	-0.448000	0.06820	1.078000	0.41014	0.393000	0.25936	CGA		0.448	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		8	567	8	567	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43268158	43268158	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43268158G>T	ENST00000306511.4	-	2	437	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	PSG8_ENST00000404209.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	114	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCGTCTTCCTGGGTGACATTC	0.418																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(340-342)Cag>Aag		pregnancy specific beta-1-glycoprotein 8							362.0	367.0	365.0					19																	43268158		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268158G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.340C>A	19.37:g.43268158G>T	ENSP00000305005:p.Gln114Lys		Somatic				PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K	p.Q114K	NM_001130167.1	NP_001123639.1	WXS	Illumina GAIIx	Phase_I	Q9UQ74	PSG8_HUMAN			2	436	-		Prostate(69;0.00899)	114			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.340C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.760202	0.00657	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.64803	-0.12;-0.12;-0.12	1.35	-1.7	0.08159	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45155	0.1328	L	0.45285	1.41	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.18263	0.021;0.0;0.003;0.0;0.0	T	0.31586	-0.9938	9	0.12103	T	0.63	.	5.3211	0.15881	0.0:0.0:0.3809:0.6191	.	114;114;114;114;114	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	K	114	ENSP00000385869:Q114K;ENSP00000386090:Q114K;ENSP00000305005:Q114K	ENSP00000305005:Q114K	Q	-	1	0	PSG8	47959998	0.000000	0.05858	0.053000	0.19242	0.019000	0.09904	-0.229000	0.09098	-0.372000	0.07992	0.184000	0.17185	CAG		0.418	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			8	479	8	479	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43680257	43680257	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43680257G>T	ENST00000366175.3	-	3	604	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Silent_p.P158P|PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	158	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATTCTCCCTGGGTTTTGAGT	0.493																																						ENST00000404580.1																			1	Substitution - coding silent(1)	p.P158P(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(472-474)ccC>ccA		pregnancy specific beta-1-glycoprotein 5							246.0	230.0	235.0					19																	43680257		2202	4296	6498	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43680257G>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.474C>A	19.37:g.43680257G>T			Somatic				PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000366175.3_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P	p.P158P			WXS	Illumina GAIIx	Phase_I	Q15238	PSG5_HUMAN			3	562	-		Prostate(69;0.00899)	158			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.474C>A	CCDS12617.1																																																																																				0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		10	348	10	348	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49646129	49646129	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:49646129G>T	ENST00000334186.4	+	21	2962	c.2613G>T	c.(2611-2613)atG>atT	p.M871I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	871	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCCATCATGGCCAACCTGT	0.642																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2611-2613)atG>atT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							114.0	96.0	102.0					19																	49646129		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49646129G>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2613G>T	19.37:g.49646129G>T	ENSP00000335614:p.Met871Ile		Somatic				PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	p.M871I	NM_003660.2	NP_003651.1	WXS	Illumina GAIIx	Phase_I	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	21	2962	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	871			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2613G>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470069	0.84533	.	.	ENSG00000177380	ENST00000334186	T	0.15718	2.4	4.45	4.45	0.53987	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.206565	0.30528	N	0.009437	T	0.16385	0.0394	L	0.34521	1.04	0.80722	D	1	B;P	0.35011	0.323;0.48	B;B	0.35413	0.19;0.202	T	0.06862	-1.0803	10	0.87932	D	0	-9.8592	16.2668	0.82588	0.0:0.0:1.0:0.0	.	871;871	O75145-2;O75145	.;LIPA3_HUMAN	I	871	ENSP00000335614:M871I	ENSP00000335614:M871I	M	+	3	0	PPFIA3	54337941	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.800000	0.99124	2.198000	0.70561	0.449000	0.29647	ATG		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		5	96	5	96	---	---	---	---
KLK14	43847	broad.mit.edu	37	19	51585865	51585865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51585865G>T	ENST00000156499.2	-	3	273	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	KLK14_ENST00000391802.1_Missense_Mutation_p.L19I			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	19					epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCAGCAGGAGGAACATTTTA	0.537																																					GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(55-57)Ctc>Atc		kallikrein-related peptidase 14							89.0	91.0	90.0					19																	51585865		1922	4130	6052	SO:0001583	missense	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51585865G>T	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.55C>A	19.37:g.51585865G>T	ENSP00000156499:p.Leu19Ile		Somatic				KLK14_ENST00000156499.2_Missense_Mutation_p.L19I	p.L19I	NM_022046.4	NP_071329.2	WXS	Illumina GAIIx	Phase_I	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	3	273	-		all_neural(266;0.0199)	19					A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	c.55C>A	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050127	0.07407	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93488	-3.23;-3.23	4.88	0.0475	0.14280	.	.	.	.	.	T	0.79323	0.4426	N	0.08118	0	0.09310	N	0.999995	P	0.35077	0.483	B	0.21360	0.034	T	0.70278	-0.4916	9	0.28530	T	0.3	.	4.7763	0.13180	0.2012:0.3396:0.4592:0.0	.	19	Q9P0G3	KLK14_HUMAN	I	19	ENSP00000156499:L19I;ENSP00000375678:L19I	ENSP00000156499:L19I	L	-	1	0	KLK14	56277677	0.220000	0.23631	0.426000	0.26672	0.322000	0.28314	0.023000	0.13533	0.035000	0.15519	0.552000	0.68991	CTC		0.537	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		5	84	5	84	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51960476	51960476	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51960476C>A	ENST00000321424.3	-	3	809	c.743G>T	c.(742-744)tGg>tTg	p.W248L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	248	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTCAAGTTCCAAGGAGGGTC	0.562																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(742-744)tGg>tTg		sialic acid binding Ig-like lectin 8							92.0	88.0	89.0					19																	51960476		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960476C>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.743G>T	19.37:g.51960476C>A	ENSP00000321077:p.Trp248Leu		Somatic				SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L	p.W248L	NM_014442.2	NP_055257.2	WXS	Illumina GAIIx	Phase_I	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	809	-		all_neural(266;0.0199)	248			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.743G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	5.396	0.258360	0.10239	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.60672	0.17;1.27	2.14	-0.202	0.13208	Immunoglobulin-like (1);	1.705140	0.04196	U	0.329160	T	0.38772	0.1053	N	0.12182	0.205	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.20577	0.03;0.0	T	0.30765	-0.9967	10	0.54805	T	0.06	.	4.5176	0.11943	0.0:0.3652:0.0:0.6348	.	155;248	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	L	248;155	ENSP00000321077:W248L;ENSP00000339448:W155L	ENSP00000321077:W248L	W	-	2	0	SIGLEC8	56652288	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.818000	0.04467	-0.112000	0.11979	-0.508000	0.04489	TGG		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		6	89	6	89	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53456131	53456131	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:53456131C>A	ENST00000357666.4	-	4	364		c.e4-1		ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						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(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCAAGCGTCCCTAAAATAAAA	0.413																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.e4-1		zinc finger protein 816							77.0	85.0	82.0					19																	53456131		2203	4300	6503	SO:0001630	splice_region_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53456131C>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.64-1G>T	19.37:g.53456131C>A			Somatic				ZNF816_ENST00000535506.1_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site		NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	Q0VGE8	ZN816_HUMAN			4	364	-								A8K7H5|Q3KR39|Q659B3	Splice_Site	SNP	ENST00000357666.4	37		CCDS33096.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864926	0.32977	.	.	ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000434371;ENST00000357666;ENST00000444460;ENST00000457013;ENST00000332302;ENST00000391777	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6538	0.45663	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF321P;ZNF816	58147943	0.692000	0.27719	0.014000	0.15608	0.517000	0.34286	1.871000	0.39539	1.000000	0.39049	0.305000	0.20034	.		0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	Intron	6	139	6	139	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086232	55086232	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55086232C>A	ENST00000251377.3	+	5	520	c.387C>A	c.(385-387)ccC>ccA	p.P129P	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	129	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGCTCTGCCCAGCCCTGTGG	0.562																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(385-387)ccC>ccA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							131.0	125.0	127.0					19																	55086232		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55086232C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.387C>A	19.37:g.55086232C>A			Somatic				LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR	p.P129P			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0963)	5	520	+								O75020	Silent	SNP	ENST00000251377.3	37	c.387C>A	CCDS46179.1																																																																																				0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			6	165	6	165	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55481486	55481486	+	Missense_Mutation	SNP	C	C	A	rs140778052	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55481486C>A	ENST00000543010.1	+	2	246	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	35	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.			L -> P (in Ref. 1; AAG15253). {ECO:0000305}.	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCTTCTCCCTGGCACACGA	0.552																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(103-105)Ctg>Atg		NLR family, pyrin domain containing 2							107.0	93.0	98.0					19																	55481486		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55481486C>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.103C>A	19.37:g.55481486C>A	ENSP00000445135:p.Leu35Met		Somatic				NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	p.L35M	NM_001174081.1	NP_001167552.1	WXS	Illumina GAIIx	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	2	246	+			35	L -> P (in Ref. 1; AAG15253).		DAPIN.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.103C>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326399	0.24080	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	1.88	1.88	0.25563	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.67202	0.2868	L	0.58669	1.825	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.979;0.989;0.997;0.989;0.995	T	0.51841	-0.8654	9	0.36615	T	0.2	.	7.3439	0.26652	0.0:1.0:0.0:0.0	.	35;35;35;35;35	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	35	ENSP00000443519:L35M;ENSP00000445135:L35M;ENSP00000375601:L35M;ENSP00000344074:L35M;ENSP00000409370:L35M;ENSP00000440601:L35M;ENSP00000402474:L35M;ENSP00000441133:L35M;ENSP00000263437:L35M	ENSP00000263437:L35M	L	+	1	2	NLRP2	60173298	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.548000	0.23314	1.396000	0.46663	0.485000	0.47835	CTG		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		6	100	6	100	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(253-255)tGc>tTc		NLR family, pyrin domain containing 4							72.0	75.0	74.0					19																	56363700		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56363700G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.254G>T	19.37:g.56363700G>T	ENSP00000301295:p.Cys85Phe		Somatic				NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	p.C85F	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	676	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	85			DAPIN.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.254G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154359	0.38021	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.51817	0.69;0.69	4.46	2.05	0.26809	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.54615	0.1869	L	0.60067	1.865	0.09310	N	1	D	0.60160	0.987	P	0.58520	0.84	T	0.39143	-0.9628	9	0.28530	T	0.3	.	8.676	0.34179	0.0:0.0:0.5662:0.4338	.	85	Q96MN2	NALP4_HUMAN	F	85	ENSP00000301295:C85F;ENSP00000344787:C85F	ENSP00000301295:C85F	C	+	2	0	NLRP4	61055512	0.000000	0.05858	0.090000	0.20809	0.008000	0.06430	0.159000	0.16442	1.116000	0.41820	0.655000	0.94253	TGC		0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		27	60	27	60	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58723010	58723010	+	Missense_Mutation	SNP	C	C	A	rs374045776		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:58723010C>A	ENST00000326804.4	+	8	1393	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	313	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R280S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCGAGTACCGCGATGTGAT	0.617																																						ENST00000326804.4																			1	Substitution - Missense(1)	p.R280S(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(934-936)Cgc>Agc		zinc finger protein 274							104.0	120.0	115.0					19																	58723010		2197	4300	6497	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723010C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.934C>A	19.37:g.58723010C>A	ENSP00000321209:p.Arg312Ser		Somatic				ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	p.R312S	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	WXS	Illumina GAIIx	Phase_I	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	8	1393	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	313			KRAB 2.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.934C>A		.	.	.	.	.	.	.	.	.	.	C	13.73	2.323915	0.41096	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.02656	4.21;4.21;4.21	5.17	5.17	0.71159	Krueppel-associated box (4);	0.251340	0.21337	N	0.076187	T	0.05823	0.0152	.	.	.	0.27351	N	0.956258	P;P;P	0.38597	0.586;0.586;0.639	B;B;P	0.45071	0.338;0.338;0.468	T	0.12682	-1.0538	9	0.52906	T	0.07	-4.2241	14.0107	0.64495	0.0:1.0:0.0:0.0	.	208;281;313	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	S	312;280;207	ENSP00000321209:R312S;ENSP00000321187:R280S;ENSP00000409872:R207S	ENSP00000321209:R312S	R	+	1	0	ZNF274	63414822	0.023000	0.18921	0.971000	0.41717	0.689000	0.40095	0.054000	0.14205	2.688000	0.91661	0.563000	0.77884	CGC		0.617	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		5	135	5	135	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1435726	1435726	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:1435726G>T	ENST00000216879.4	-	4	1197	c.330C>A	c.(328-330)ccC>ccA	p.P110P	NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	110						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCTTCCTGGGAGGGCCAA	0.488																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(328-330)ccC>ccA		NSFL1 (p97) cofactor (p47)							218.0	228.0	224.0					20																	1435726		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1435726G>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.330C>A	20.37:g.1435726G>T			Somatic				NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	p.P110P	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			4	1197	-			110					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.330C>A	CCDS13015.1																																																																																				0.488	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		8	343	8	343	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16410600	16410600	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:16410600C>A	ENST00000354981.2	-	13	1487	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W	KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	444					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTCCAATCCCTTCTTTCCTG	0.363																																						ENST00000378003.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74								kinesin family member 16B							91.0	84.0	86.0					20																	16410600		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16410600C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1330G>T	20.37:g.16410600C>A	ENSP00000347076:p.Gly444Trp		Somatic				KIF16B_ENST00000354981.2_Missense_Mutation_p.G444W|KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W				WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			0	1487	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Translation_Start_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471896	0.84533	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76448	-1.02;-0.99;-0.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	M	0.93550	3.43	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	D	0.92648	0.6130	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	444;444;444;444	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	W	444	ENSP00000347076:G444W;ENSP00000347995:G444W;ENSP00000384164:G444W	ENSP00000347076:G444W	G	-	1	0	KIF16B	16358600	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.040000	0.70980	2.941000	0.99782	0.655000	0.94253	GGG		0.363	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	79	6	79	---	---	---	---
NAA20	51126	broad.mit.edu	37	20	20006388	20006388	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:20006388C>A	ENST00000334982.4	+	3	427	c.146C>A	c.(145-147)cCt>cAt	p.P49H	NAA20_ENST00000398602.2_Missense_Mutation_p.P37H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.P49H	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	49	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GCAGAGGCACCTGGTGGAGAA	0.383																																						ENST00000398602.2																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(109-111)cCt>cAt		N(alpha)-acetyltransferase 20, NatB catalytic subunit							127.0	127.0	127.0					20																	20006388		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20006388C>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.146C>A	20.37:g.20006388C>A	ENSP00000335636:p.Pro49His		Somatic				NAA20_ENST00000310450.4_Missense_Mutation_p.P49H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.P49H	p.P37H	NM_181527.3	NP_852668.1	WXS	Illumina GAIIx	Phase_I	P61599	NAA20_HUMAN			3	745	+			49			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.110C>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255095	0.59321	.	.	ENSG00000173418	ENST00000334982;ENST00000310450;ENST00000398602	T;T;T	0.65364	0.45;0.43;-0.15	4.62	4.62	0.57501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.64567	1.98	0.80722	D	1	P;P;B	0.41710	0.76;0.736;0.331	P;B;B	0.45071	0.468;0.445;0.248	T	0.66532	-0.5900	9	.	.	.	-28.2686	16.3756	0.83387	0.0:1.0:0.0:0.0	.	37;49;49	A8MZB2;A6NHA3;P61599	.;.;NAA20_HUMAN	H	49;49;37	ENSP00000335636:P49H;ENSP00000311027:P49H;ENSP00000381603:P37H	.	P	+	2	0	NAA20	19954388	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.554000	0.82212	2.393000	0.81446	0.655000	0.94253	CCT		0.383	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		6	194	6	194	---	---	---	---
TGIF2	60436	broad.mit.edu	37	20	35219499	35219499	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:35219499C>A	ENST00000373874.2	+	3	578	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	127	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGTGCTCTCCCTGTCTGTGTG	0.672																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(379-381)Ctg>Atg		TGFB-induced factor homeobox 2							60.0	67.0	64.0					20																	35219499		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35219499C>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.379C>A	20.37:g.35219499C>A	ENSP00000362981:p.Leu127Met		Somatic				RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	p.L127M	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	WXS	Illumina GAIIx	Phase_I	Q9GZN2	TGIF2_HUMAN			3	578	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	127			Repressive function.		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.379C>A	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695241	0.30052	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.66099	-0.19;-0.19	5.71	-5.29	0.02747	.	0.804891	0.10750	N	0.638456	T	0.43010	0.1228	L	0.52011	1.625	0.19575	N	0.999963	P	0.35745	0.518	B	0.26614	0.071	T	0.30707	-0.9969	10	0.37606	T	0.19	-11.2125	6.1084	0.20087	0.1096:0.5294:0.1547:0.2063	.	127	Q9GZN2	TGIF2_HUMAN	M	127	ENSP00000362981:L127M;ENSP00000362979:L127M	ENSP00000362979:L127M	L	+	1	2	TGIF2	34652913	0.001000	0.12720	0.881000	0.34555	0.793000	0.44817	-0.339000	0.07832	-0.355000	0.08199	-0.291000	0.09656	CTG		0.672	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		6	120	6	120	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37634887	37634887	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:37634887C>A	ENST00000252011.3	+	12	1143	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	370	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1108-1110)ccC>ccA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							263.0	252.0	255.0					20																	37634887		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634887C>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1110C>A	20.37:g.37634887C>A			Somatic				DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	p.P370P	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			12	1143	+		Myeloproliferative disorder(115;0.00878)	370			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1110C>A	CCDS13310.1																																																																																				0.517	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		7	329	7	329	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40161771	40161771	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:40161771G>T	ENST00000373233.3	-	3	649	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	CHD6_ENST00000373222.3_Silent_p.R193R|CHD6_ENST00000309279.7_Silent_p.R158R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	158	Lys-rich.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGCCTCCCGGGGCTTCCGT	0.587																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(472-474)Cgg>Agg		chromodomain helicase DNA binding protein 6							184.0	172.0	176.0					20																	40161771		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40161771G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.472C>A	20.37:g.40161771G>T			Somatic				CHD6_ENST00000309279.7_Silent_p.R158R|CHD6_ENST00000373222.3_Silent_p.R193R	p.R158R	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			3	649	-		Myeloproliferative disorder(115;0.00425)	158			Lys-rich.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.472C>A	CCDS13317.1																																																																																				0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			7	260	7	260	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43034706	43034706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:43034706C>A	ENST00000316099.4	+	2	213	c.124C>A	c.(124-126)Cca>Aca	p.P42T	HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T|HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	42					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACACGTCCCCATCAGAAGG	0.632																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.4																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(124-126)Cca>Aca		hepatocyte nuclear factor 4, alpha							152.0	152.0	152.0					20																	43034706		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034706C>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.124C>A	20.37:g.43034706C>A	ENSP00000312987:p.Pro42Thr		Somatic				HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T|HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T	p.P42T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	213	+		Myeloproliferative disorder(115;0.0122)						A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.124C>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	c	16.36	3.100978	0.56183	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.92858	-3.05;-3.05;-3.08;-3.12;-3.07	5.17	5.17	0.71159	.	0.189462	0.47455	D	0.000229	D	0.87884	0.6290	L	0.28192	0.835	0.80722	D	1	B;B;B;B;B;B;B	0.11235	0.004;0.001;0.0;0.002;0.001;0.001;0.004	B;B;B;B;B;B;B	0.15484	0.009;0.003;0.003;0.004;0.006;0.013;0.006	T	0.83129	-0.0114	10	0.44086	T	0.13	.	18.7348	0.91750	0.0:1.0:0.0:0.0	.	35;42;42;42;20;20;20	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	T	20;20;42;42;72;42	ENSP00000315180:P20T;ENSP00000396216:P20T;ENSP00000312987:P42T;ENSP00000410911:P42T;ENSP00000412111:P42T	ENSP00000312987:P42T	P	+	1	0	HNF4A	42468120	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	5.881000	0.69706	2.414000	0.81942	0.645000	0.84053	CCA		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	251	10	251	---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	45012124	45012124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:45012124C>A	ENST00000290246.6	-	10	881	c.687G>T	c.(685-687)caG>caT	p.Q229H	ELMO2_ENST00000372176.1_Missense_Mutation_p.Q141H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	229					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGAATCTCCTGGTTGGAGC	0.428																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(421-423)caG>caT		engulfment and cell motility 2							112.0	115.0	114.0					20																	45012124		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45012124C>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.687G>T	20.37:g.45012124C>A	ENSP00000290246:p.Gln229His		Somatic				ELMO2_ENST00000290246.6_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H	p.Q141H			WXS	Illumina GAIIx	Phase_I	Q96JJ3	ELMO2_HUMAN			10	891	-		Myeloproliferative disorder(115;0.0122)	229					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.423G>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439794	0.63067	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;1.56;0.71;1.45;0.71	4.61	2.68	0.31781	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.70275	2.135	0.80722	D	1	P;B;B	0.52170	0.951;0.169;0.169	P;B;B	0.59115	0.852;0.125;0.081	T	0.56601	-0.7952	10	0.39692	T	0.17	-25.9595	9.5777	0.39468	0.0:0.7613:0.0:0.2387	.	229;229;229	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	H	229;141;229;229;46;227;17;229	ENSP00000290246:Q229H;ENSP00000361249:Q141H;ENSP00000379673:Q229H;ENSP00000396519:Q229H;ENSP00000409920:Q46H;ENSP00000326172:Q227H;ENSP00000388962:Q17H;ENSP00000416181:Q229H	ENSP00000290246:Q229H	Q	-	3	2	ELMO2	44445531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.057000	0.41365	0.690000	0.31570	-0.196000	0.12772	CAG		0.428	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		8	174	8	174	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511007	61511007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61511007C>A	ENST00000266070.4	-	16	6626	c.6301G>T	c.(6301-6303)Gag>Tag	p.E2101*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2101					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGGCTCCTCCAGCGGCTTC	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6301-6303)Gag>Tag		death inducer-obliterator 1							78.0	94.0	89.0					20																	61511007		2191	4263	6454	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511007C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6301G>T	20.37:g.61511007C>A	ENSP00000266070:p.Glu2101*		Somatic				DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	p.E2101*	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			16	6626	-	Breast(26;5.68e-08)		2101					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.6301G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	46	12.479950	0.99671	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.32	5.32	0.75619	.	0.353024	0.20089	N	0.099483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.2378	17.9713	0.89113	0.0:1.0:0.0:0.0	.	.	.	.	X	2101	.	ENSP00000266070:E2101X	E	-	1	0	DIDO1	60981452	0.988000	0.35896	0.046000	0.18839	0.013000	0.08279	3.963000	0.56773	2.482000	0.83794	0.655000	0.94253	GAG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	258	8	258	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513279	61513279	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61513279G>T	ENST00000266070.4	-	16	4354	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	DIDO1_ENST00000395343.1_Silent_p.P1343P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1343					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCTCCTGGGGGAGACCTG	0.582																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4027-4029)ccC>ccA		death inducer-obliterator 1							80.0	94.0	89.0					20																	61513279		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513279G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4029C>A	20.37:g.61513279G>T			Somatic				DIDO1_ENST00000395343.1_Silent_p.P1343P	p.P1343P	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			16	4354	-	Breast(26;5.68e-08)		1343					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4029C>A	CCDS33506.1																																																																																				0.582	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	168	7	168	---	---	---	---
C21orf62	56245	broad.mit.edu	37	21	34166417	34166417	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:34166417G>T	ENST00000536776.1	-	2	456	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L106M|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.L106M|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.L106M	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTGCTGCACAGGGAAAGCTTC	0.562																																						ENST00000536776.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(316-318)Ctg>Atg		chromosome 21 open reading frame 62							93.0	93.0	93.0					21																	34166417		2099	4225	6324	SO:0001583	missense	56245							g.chr21:34166417G>T	AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.316C>A	21.37:g.34166417G>T	ENSP00000444950:p.Leu106Met		Somatic				C21orf62_ENST00000479548.1_Missense_Mutation_p.L106M|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L106M|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.L106M	p.L106M	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	WXS	Illumina GAIIx	Phase_I	Q9NYP8	CU062_HUMAN			2	456	-		Myeloproliferative disorder(46;0.0255)	106					A8K4L8	Missense_Mutation	SNP	ENST00000536776.1	37	c.316C>A	CCDS42919.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305464	0.40795	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	5.37	4.5	0.54988	.	0.231229	0.27846	U	0.017608	T	0.61714	0.2369	M	0.68952	2.095	0.30703	N	0.750087	D	0.89917	1.0	D	0.72338	0.977	T	0.64558	-0.6379	9	0.66056	D	0.02	-9.7463	7.065	0.25147	0.294:0.0:0.706:0.0	.	106	Q9NYP8	CU062_HUMAN	M	106;106;106;153;106	.	ENSP00000371810:L153M	L	-	1	2	C21orf62	33088287	0.855000	0.29742	0.954000	0.39281	0.368000	0.29767	1.048000	0.30379	1.272000	0.44329	-0.448000	0.05591	CTG		0.562	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139598.5	NM_019596		5	62	5	62	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40568278	40568278	+	Intron	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40568278C>A	ENST00000333229.2	-	41	6899				BRWD1_ENST00000342449.3_Silent_p.T2239T|BRWD1_ENST00000380800.3_Intron	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T2239T(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTGATTTCTCGTTTTTATTT	0.393																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			1	Substitution - coding silent(1)	p.T2239T(1)	urinary_tract(1)	cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6715-6717)acG>acT		bromodomain and WD repeat domain containing 1							217.0	213.0	215.0					21																	40568278		2203	4299	6502	SO:0001627	intron_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568278C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6571+145G>T	21.37:g.40568278C>A			Somatic				BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	p.T2239T	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			41	6795	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	0					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.6717G>T	CCDS13662.1																																																																																				0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	260	5	260	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40630419	40630419	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40630419G>T	ENST00000333229.2	-	18	2392	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	BRWD1_ENST00000342449.3_Silent_p.R689R|BRWD1_ENST00000380800.3_Silent_p.R689R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	689					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTACCTCTCCGGGGTGTTTCT	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2065-2067)Cgg>Agg		bromodomain and WD repeat domain containing 1							177.0	175.0	176.0					21																	40630419		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630419G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2065C>A	21.37:g.40630419G>T			Somatic				BRWD1_ENST00000380800.3_Silent_p.R689R|BRWD1_ENST00000333229.2_Silent_p.R689R	p.R689R	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			18	2143	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	689					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.2065C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	5.112	0.206221	0.09704	.	.	ENSG00000185658	ENST00000455867	T	0.52526	0.66	5.46	3.45	0.39498	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	6	0.30078	T	0.28	-4.608	11.0573	0.47927	0.0:0.0:0.4789:0.5211	.	.	.	.	Q	400	ENSP00000389882:P400Q	ENSP00000398900:P400Q	P	-	2	0	BRWD1	39552289	0.922000	0.31269	0.428000	0.26697	0.748000	0.42578	1.327000	0.33746	1.297000	0.44761	0.655000	0.94253	CCG		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	181	5	181	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43281789	43281789	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:43281789C>A	ENST00000269844.3	-	7	884	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTCATCCCCAGCAGCTTGA	0.512																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(772-774)ctG>ctT		PR domain containing 15							92.0	77.0	82.0					21																	43281789		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43281789C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.774G>T	21.37:g.43281789C>A			Somatic				PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	p.L258L	NM_022115.3	NP_071398.3	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			7	884	-			258					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.774G>T	CCDS13676.1																																																																																				0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		5	74	5	74	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422472	26422472	+	Silent	SNP	C	C	A	rs371274815		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:26422472C>A	ENST00000407587.2	+	43	6704	c.6535C>A	c.(6535-6537)Cgg>Agg	p.R2179R	MYO18B_ENST00000335473.7_Silent_p.R2178R|MYO18B_ENST00000536101.1_Silent_p.R2178R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGCAGAGCCCGGTCCACCAA	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6532-6534)Cgg>Agg		myosin XVIIIB							94.0	103.0	100.0					22																	26422472		1962	4149	6111	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422472C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6535C>A	22.37:g.26422472C>A			Somatic				MYO18B_ENST00000407587.2_Silent_p.R2179R|MYO18B_ENST00000536101.1_Silent_p.R2178R	p.R2178R	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			43	6782	+			2178					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6532C>A																																																																																					0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	183	5	183	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36718479	36718479	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:36718479G>T	ENST00000216181.5	-	6	930	c.700C>A	c.(700-702)Cgc>Agc	p.R234S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	234	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCACGAAGCGGGAGGAGTTG	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(700-702)Cgc>Agc		myosin, heavy chain 9, non-muscle							74.0	63.0	67.0					22																	36718479		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36718479G>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.700C>A	22.37:g.36718479G>T	ENSP00000216181:p.Arg234Ser		Somatic					p.R234S	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			6	930	-			234			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.700C>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397137	0.62177	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.84589	-1.87	5.23	4.18	0.49190	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96156	0.8747	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97044	0.9759	10	0.87932	D	0	.	13.0767	0.59091	0.0:0.0:0.6521:0.3479	.	234	P35579	MYH9_HUMAN	S	98;234	ENSP00000216181:R234S	ENSP00000216181:R234S	R	-	1	0	MYH9	35048425	1.000000	0.71417	0.779000	0.31741	0.482000	0.33219	3.429000	0.52800	1.269000	0.44280	0.561000	0.74099	CGC		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		5	86	5	86	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46658320	46658320	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:46658320C>A	ENST00000253255.5	-	1	899	c.900G>T	c.(898-900)tgG>tgT	p.W300C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	300	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATACACTCCCCACTGTAACG	0.552																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(898-900)tgG>tgT		polycystin (PKD) family receptor for egg jelly							155.0	167.0	163.0					22																	46658320		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658320C>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.900G>T	22.37:g.46658320C>A	ENSP00000253255:p.Trp300Cys		Somatic					p.W300C	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	899	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	300			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.900G>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000909	0.35320	.	.	ENSG00000130943	ENST00000253255	T	0.69306	-0.39	4.28	3.22	0.36961	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.754990	0.02843	N	0.128136	T	0.75421	0.3847	L	0.61218	1.895	0.46028	D	0.998825	D	0.64830	0.994	P	0.55508	0.777	T	0.61797	-0.6989	10	0.40728	T	0.16	0.0116	7.271	0.26256	0.1859:0.6183:0.1958:0.0	.	300	Q9NTG1	PKDRE_HUMAN	C	300	ENSP00000253255:W300C	ENSP00000253255:W300C	W	-	3	0	PKDREJ	45036984	0.002000	0.14202	0.186000	0.23195	0.011000	0.07611	0.011000	0.13264	0.883000	0.36040	0.603000	0.83216	TGG		0.552	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	245	7	245	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	298	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(784-786)Gag>Aag		tubulin tyrosine ligase-like family, member 8							79.0	85.0	83.0					22																	50480096		2175	4264	6439	SO:0001583	missense	164714							g.chr22:50480096C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.784G>A	22.37:g.50480096C>T	ENSP00000266182:p.Glu262Lys		Somatic				TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K	p.E262K			WXS	Illumina GAIIx	Phase_I				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	783	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.784G>A		.	.	.	.	.	.	.	.	.	.	C	12.53	1.965776	0.34659	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.42131	3.57;0.98;0.98	5.18	4.1	0.47936	.	0.628717	0.14924	N	0.290487	T	0.40619	0.1124	L	0.56769	1.78	0.31724	N	0.63786	B	0.20887	0.049	B	0.17433	0.018	T	0.45352	-0.9267	10	0.39692	T	0.17	.	13.3935	0.60836	0.1583:0.8417:0.0:0.0	.	262	B5MDV0	.	K	262;262;298	ENSP00000266182:E262K;ENSP00000387509:E262K;ENSP00000392252:E298K	ENSP00000266182:E262K	E	-	1	0	TTLL8	48822223	0.710000	0.27896	0.940000	0.37924	0.278000	0.26855	2.335000	0.43929	2.406000	0.81754	0.484000	0.47621	GAG		0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		5	27	5	27	---	---	---	---
STS	412	broad.mit.edu	37	X	7171276	7171276	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:7171276G>T	ENST00000217961.4	+	2	271	c.51G>T	c.(49-51)tgG>tgT	p.W17C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	17					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TCTTTCTGTGGGAAGCCGAGA	0.493									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(49-51)tgG>tgT		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						114.0	84.0	94.0					X																	7171276		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7171276G>T	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.51G>T	X.37:g.7171276G>T	ENSP00000217961:p.Trp17Cys		Somatic					p.W17C	NM_000351.4	NP_000342.2	WXS	Illumina GAIIx	Phase_I	P08842	STS_HUMAN			2	271	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	17					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.51G>T	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	1.014	-0.686834	0.03328	.	.	ENSG00000101846	ENST00000217961	D	0.95724	-3.79	3.68	-7.36	0.01417	.	3.316610	0.00628	N	0.000461	D	0.86012	0.5831	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79799	-0.1651	10	0.36615	T	0.2	.	7.906	0.29763	0.0:0.399:0.2669:0.334	.	17	P08842	STS_HUMAN	C	17	ENSP00000217961:W17C	ENSP00000217961:W17C	W	+	3	0	STS	7181276	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.759000	0.00787	-4.216000	0.00064	-1.117000	0.02048	TGG		0.493	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		4	29	4	29	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18775837	18775837	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:18775837C>A	ENST00000361511.4	+	8	983	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PPEF1_ENST00000543630.1_Silent_p.P163P|PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000359763.6_Silent_p.P110P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	163	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTTCTCCCTCCAAAGAGG	0.408																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(487-489)ccC>ccA		protein phosphatase, EF-hand calcium binding domain 1							163.0	152.0	156.0					X																	18775837		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18775837C>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.489C>A	X.37:g.18775837C>A			Somatic				PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000359763.6_Silent_p.P110P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000543630.1_Silent_p.P163P	p.P163P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	WXS	Illumina GAIIx	Phase_I	O14829	PPE1_HUMAN			8	983	+	Hepatocellular(33;0.183)		163			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.489C>A	CCDS14188.1																																																																																				0.408	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		6	108	6	108	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229057	24229057	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:24229057C>A	ENST00000379177.1	+	11	2409	c.1982C>A	c.(1981-1983)cCc>cAc	p.P661H	ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	661					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGACTACCCCCATAAGTGT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1981-1983)cCc>cAc		zinc finger protein, X-linked							113.0	101.0	105.0					X																	24229057		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229057C>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1982C>A	X.37:g.24229057C>A	ENSP00000368475:p.Pro661His		Somatic				ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H|ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H	p.P661H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			11	2409	+			661					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.1982C>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401939	0.62288	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.11	5.11	0.69529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63733	0.2536	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72520	-0.4268	10	0.87932	D	0	-6.002	17.8664	0.88796	0.0:1.0:0.0:0.0	.	700;383;661	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	H	432;661;383;661;661;700;611	ENSP00000438233:P432H;ENSP00000368486:P661H;ENSP00000368475:P661H;ENSP00000304985:P661H;ENSP00000441382:P700H;ENSP00000343384:P611H	ENSP00000304985:P661H	P	+	2	0	ZFX	24138978	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.238000	0.73509	0.594000	0.82650	CCC		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		5	64	5	64	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48049696	48049696	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:48049696G>T	ENST00000376923.1	-	5	338	c.339C>A	c.(337-339)ccC>ccA	p.P113P	SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000311798.1_Silent_p.P154P			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGGCTTCTCGGGCGTGATCT	0.433																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(460-462)ccC>ccA		synovial sarcoma, X breakpoint 5							151.0	147.0	148.0					X																	48049696		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48049696G>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.339C>A	X.37:g.48049696G>T			Somatic				SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000376923.1_Silent_p.P113P	p.P154P	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			7	514	-			113					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.462C>A	CCDS14289.1																																																																																				0.433	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		5	168	5	168	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55651014	55651014	+	Silent	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(868-870)gcT>gcG		forkhead box R2							124.0	97.0	106.0					X																	55651014		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651014T>G	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.870T>G	X.37:g.55651014T>G			Somatic					p.A290A	NM_198451.3	NP_940853.1	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			1	1182	+			290						Silent	SNP	ENST00000339140.3	37	c.870T>G	CCDS35308.1																																																																																				0.493	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		17	15	17	15	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74637002	74637002	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:74637002G>T	ENST00000373367.3	-	10	1117	c.887C>A	c.(886-888)cCt>cAt	p.P296H	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P287H|ZDHHC15_ENST00000373361.3_3'UTR	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	296					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGACCTCATAGGGAAGGAGTG	0.443																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(859-861)cCt>cAt		zinc finger, DHHC-type containing 15							195.0	161.0	173.0					X																	74637002		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74637002G>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.887C>A	X.37:g.74637002G>T	ENSP00000362465:p.Pro296His		Somatic				ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.P296H	p.P287H	NM_001146256.1	NP_001139728.1	WXS	Illumina GAIIx	Phase_I	Q96MV8	ZDH15_HUMAN			9	1337	-			296					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.860C>A	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933071	0.73442	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.50277	0.75;0.97	5.43	5.43	0.79202	.	0.323197	0.35096	N	0.003452	T	0.74442	0.3717	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.80259	-0.1457	10	0.62326	D	0.03	-2.0328	16.7653	0.85522	0.0:0.0:1.0:0.0	.	287;296	B3KVG7;Q96MV8	.;ZDH15_HUMAN	H	296;287	ENSP00000362465:P296H;ENSP00000445420:P287H	ENSP00000362465:P296H	P	-	2	0	ZDHHC15	74553727	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.417000	0.73337	2.268000	0.75426	0.513000	0.50165	CCT		0.443	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		6	95	6	95	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254141	77254141	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:77254141C>A	ENST00000341514.6	+	5	1658	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	ATP7A_ENST00000343533.5_Silent_p.S501S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	501	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTGCGCTTCCTGTGTAGCAA	0.403																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1501-1503)tcC>tcA		ATPase, Cu++ transporting, alpha polypeptide							165.0	148.0	154.0					X																	77254141		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254141C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1503C>A	X.37:g.77254141C>A			Somatic				ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S501S	p.S501S	NM_000052.5	NP_000043.4	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			5	1658	+			501			HMA 5.		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.1503C>A	CCDS35339.1																																																																																				0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		6	134	6	134	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79937586	79937586	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:79937586C>A	ENST00000373275.4	-	39	4621	c.4405G>T	c.(4405-4407)Ggg>Tgg	p.G1469W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1469					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTTCCCTTTTGGACTA	0.358																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4405-4407)Ggg>Tgg		bromodomain and WD repeat domain containing 3							164.0	138.0	147.0					X																	79937586		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79937586C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4405G>T	X.37:g.79937586C>A	ENSP00000362372:p.Gly1469Trp		Somatic				BRWD3_ENST00000473691.1_5'UTR	p.G1469W	NM_153252.4	NP_694984	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			39	4621	-			1469					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4405G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832534	0.50845	.	.	ENSG00000165288	ENST00000373275	T	0.55052	0.54	5.13	5.13	0.70059	.	0.272284	0.42420	D	0.000703	T	0.60235	0.2253	L	0.39898	1.24	0.48901	D	0.999726	D	0.71674	0.998	D	0.71656	0.974	T	0.58120	-0.7692	9	.	.	.	-10.6205	10.645	0.45615	0.0:0.9086:0.0:0.0914	.	1469	Q6RI45	BRWD3_HUMAN	W	1469	ENSP00000362372:G1469W	.	G	-	1	0	BRWD3	79824242	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.610000	0.54125	2.261000	0.74972	0.415000	0.27848	GGG		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	46	5	46	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428404	135428404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:135428404C>A	ENST00000394143.1	+	6	2830	c.2539C>A	c.(2539-2541)Cat>Aat	p.H847N	GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N|GPR112_ENST00000412101.1_Missense_Mutation_p.H642N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	847					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAACTTCCCATTATCTTAT	0.418																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2539-2541)Cat>Aat		G protein-coupled receptor 112							137.0	129.0	132.0					X																	135428404		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428404C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2539C>A	X.37:g.135428404C>A	ENSP00000377699:p.His847Asn		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.H642N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N	p.H847N	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	2830	+	Acute lymphoblastic leukemia(192;0.000127)		847					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2539C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	5.346	0.249168	0.10130	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27402	1.7;1.7;1.67;1.81;1.67	2.99	1.08	0.20341	.	.	.	.	.	T	0.14787	0.0357	L	0.29908	0.895	0.09310	N	1	P;P;B	0.46512	0.879;0.764;0.213	B;B;B	0.39660	0.306;0.161;0.021	T	0.11060	-1.0603	9	0.02654	T	1	.	4.1467	0.10219	0.2248:0.6344:0.0:0.1408	.	784;642;847	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	847;847;642;784;642	ENSP00000377699:H847N;ENSP00000359686:H847N;ENSP00000416526:H642N;ENSP00000287534:H784N;ENSP00000377697:H642N	ENSP00000287534:H784N	H	+	1	0	GPR112	135256070	0.001000	0.12720	0.125000	0.21846	0.455000	0.32408	0.224000	0.17738	0.015000	0.14971	-0.767000	0.03436	CAT		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	119	6	119	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638074	149638074	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:149638074G>T	ENST00000370401.2	+	4	539	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000468306.1_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	77					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G5fs*36(1)|p.G78fs*36(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCTGATGGGGGCTACCC	0.493																																						ENST00000370401.2																			2	Deletion - Frameshift(2)	p.G5fs*36(1)|p.G78fs*36(1)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(229-231)Ggg>Tgg		mastermind-like domain containing 1							83.0	85.0	84.0					X																	149638074		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638074G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.229G>T	X.37:g.149638074G>T	ENSP00000359428:p.Gly77Trp		Somatic				MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W	p.G77W			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	539	+	Acute lymphoblastic leukemia(192;6.56e-05)		77					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.229G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476554	0.44044	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.66099	0.22;-0.19;0.22;0.22	5.36	4.5	0.54988	.	0.720818	0.13109	N	0.413095	T	0.73442	0.3587	L	0.54323	1.7	0.24535	N	0.994097	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.81914	0.965;0.995;0.955;0.995	T	0.62072	-0.6931	10	0.72032	D	0.01	-3.8837	9.6411	0.39839	0.1638:0.0:0.8362:0.0	.	39;52;52;77	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	W	39;77;52;77;77;52	ENSP00000359428:G77W;ENSP00000414517:G52W;ENSP00000262858:G77W;ENSP00000397438:G52W	ENSP00000262858:G77W	G	+	1	0	MAMLD1	149388732	0.957000	0.32711	0.092000	0.20876	0.935000	0.57460	4.370000	0.59517	1.042000	0.40150	0.600000	0.82982	GGG		0.493	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	77	5	77	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493																																						ENST00000430580.2																			0											c.(2689-2691)gagfs		neuroblastoma breakpoint family, member 1							304.0	278.0	287.0					1																	16893822		2202	4283	6485	SO:0001589	frameshift_variant	55672					cytoplasm		g.chr1:16893822delC	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2691delG	1.37:g.16893822delC	ENSP00000474456:p.Glu897fs		Somatic				NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E897fs	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3578	-			897			NBPF 5.		Q8N4E8|Q9C0H0	Frame_Shift_Del	DEL	ENST00000430580.2	37	c.2691delG																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		9	1785	9	1785	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(604-609)ttttacfs		5'-nucleotidase domain containing 3																																				SO:0001589	frameshift_variant	51559						hydrolase activity|metal ion binding	g.chr12:104192373_104192374delAA	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.606_607delTT	12.37:g.104192375_104192376delAA	ENSP00000376615:p.Phe202fs		Somatic				NT5DC3_ENST00000465502.1_5'UTR	p.FY202fs	NM_001031701.2	NP_001026871.1	WXS	Illumina GAIIx	Phase_I	Q86UY8	NT5D3_HUMAN			5	646_647	-			202					Q9NUM7|Q9P2T2|Q9P2T3	Frame_Shift_Del	DEL	ENST00000392876.3	37	c.606_607delTT	CCDS41824.1																																																																																				0.441	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		8	89	8	89	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000333987.7	+	7	1075_1078	c.569_572delACTT	c.(568-573)gacttafs	p.DL190fs	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Frame_Shift_Del_p.DL126fs	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(376-381)gacttafs		zinc finger protein 568																																				SO:0001589	frameshift_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440624_37440627delACTT	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.569_572delACTT	19.37:g.37440628_37440631delACTT	ENSP00000334685:p.Asp190fs		Somatic				ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	p.DL126fs	NM_001204837.1	NP_001191766.1	WXS	Illumina GAIIx	Phase_I	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	753_756	+	Esophageal squamous(110;0.183)		190					B4DS92|E7ER33|Q6N060|Q8NA64	Frame_Shift_Del	DEL	ENST00000333987.7	37	c.377_380delACTT	CCDS42558.1																																																																																				0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		34	93	34	93	---	---	---	---
