#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CLCNKA	1187	broad.mit.edu	37	1	16358754	16358754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:16358754G>A	ENST00000331433.4	+	17	1832	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	CLCNKA_ENST00000375692.1_Missense_Mutation_p.A605T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A605T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A562T|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	605	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCCTCCAGGCTGAGCCTCC	0.652																																						uc001axu.2		NA																	0				ovary(1)	1						c.(1813-1815)GCT>ACT		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						35.0	35.0	35.0					1																	16358754		2203	4294	6497	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16358754G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1813G>A	1.37:g.16358754G>A	ENSP00000332771:p.Ala605Thr					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A605T|CLCNKA_uc010obw.1_Missense_Mutation_p.A562T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	p.A605T	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	17	1893	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	605			CBS 1.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1813G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	2.504	-0.314516	0.05422	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	3.02	-0.0975	0.13632	Cystathionine beta-synthase, core (1);	0.656431	0.15197	N	0.275207	T	0.72859	0.3513	N	0.12961	0.28	0.24219	N	0.995443	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56183	-0.8021	10	0.11794	T	0.64	.	4.9554	0.14036	0.4963:0.0:0.5037:0.0	.	562;605;605	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	T	605;605;562;605	ENSP00000364844:A605T;ENSP00000410353:A605T;ENSP00000414445:A562T;ENSP00000332771:A605T	ENSP00000332771:A605T	A	+	1	0	CLCNKA	16231341	0.961000	0.32948	0.246000	0.24233	0.032000	0.12392	0.195000	0.17155	0.109000	0.17891	0.313000	0.20887	GCT		0.652	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			17	15	0	0	0	0	17	15				
MAP3K6	9064	broad.mit.edu	37	1	27686819	27686819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:27686819G>A	ENST00000493901.1	-	17	2334	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	MAP3K6_ENST00000357582.2_Missense_Mutation_p.R699C|MAP3K6_ENST00000374040.3_Missense_Mutation_p.R691C	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		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;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGCAGGCGTCTGTGAAGA	0.592																																						uc001bny.1		NA																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(2095-2097)CGC>TGC		mitogen-activated protein kinase kinase kinase							77.0	76.0	76.0					1																	27686819		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27686819G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2095C>T	1.37:g.27686819G>A	ENSP00000419591:p.Arg699Cys					MAP3K6_uc009vsw.1_Missense_Mutation_p.R691C|MAP3K6_uc001bnz.1_Missense_Mutation_p.R222C	p.R699C	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	16	2344	-		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)	699			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.2095C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712990	0.68730	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.67698	-0.28;-0.28;-0.28	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74981	0.3788	M	0.62016	1.91	0.49389	D	0.999783	D;D	0.71674	0.998;0.998	P;P	0.60886	0.809;0.88	T	0.76465	-0.2949	9	0.62326	D	0.03	.	10.8662	0.46856	0.0874:0.0:0.9126:0.0	.	691;699	O95382-3;O95382	.;M3K6_HUMAN	C	691;699;422;699	ENSP00000363152:R691C;ENSP00000419591:R699C;ENSP00000350195:R699C	ENSP00000350195:R699C	R	-	1	0	MAP3K6	27559406	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.901000	0.39838	2.636000	0.89361	0.561000	0.74099	CGC		0.592	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		9	40	0	0	0	0	9	40				
RBBP4	5928	broad.mit.edu	37	1	33116074	33116074	+	5'Flank	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:33116074C>T	ENST00000373493.5	+	0	0				RBBP4_ENST00000373485.1_5'Flank|ZBTB8OS_ENST00000492007.1_5'UTR|RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000341885.5_Silent_p.A31A|ZBTB8OS_ENST00000373501.2_Silent_p.A19A|RBBP4_ENST00000414241.3_5'Flank|ZBTB8OS_ENST00000468695.1_Silent_p.A31A|RBBP4_ENST00000458695.2_5'Flank	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGGCCTTGATCGCCTTCTGTT	0.483																																						uc001bvp.2		NA																	0					0						c.(91-93)GCG>GCA		zinc finger and BTB domain containing 8 opposite							232.0	176.0	195.0					1																	33116074		2203	4300	6503	SO:0001631	upstream_gene_variant	339487							g.chr1:33116074C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116074C>T	Exception_encountered					ZBTB8OS_uc001bvo.1_RNA|ZBTB8OS_uc001bvq.2_Silent_p.A19A|RBBP4_uc001bvr.2_5'Flank|RBBP4_uc001bvs.2_5'Flank|RBBP4_uc010ohj.1_5'Flank|RBBP4_uc010ohk.1_5'Flank	p.A31A	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN			1	112	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	19					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	c.93G>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759272	0.31137	.	.	ENSG00000176261	ENST00000436661	.	.	.	5.66	-4.59	0.03400	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39375	-0.9617	4	.	.	.	-5.8364	0.1493	0.00091	0.2724:0.2046:0.181:0.342	.	.	.	.	N	30	.	.	D	-	1	0	ZBTB8OS	32888661	0.000000	0.05858	0.532000	0.27989	0.979000	0.70002	-1.262000	0.02852	-0.671000	0.05274	-0.890000	0.02929	GAT		0.483	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		39	74	0	0	0	0	39	74				
ZMYM6	9204	broad.mit.edu	37	1	35452858	35452858	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:35452858T>C	ENST00000357182.4	-	16	4052	c.3825A>G	c.(3823-3825)ttA>ttG	p.L1275L	ZMYM6_ENST00000487874.1_Intron|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1275					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAAGGGTAATAAAAATTTCA	0.368																																						uc001byh.2		NA																	0				ovary(3)	3						c.(3823-3825)TTA>TTG		zinc finger protein 258							69.0	66.0	67.0					1																	35452858		1812	4090	5902	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35452858T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3825A>G	1.37:g.35452858T>C						uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Silent_p.L1178L	p.L1275L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			16	4053	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1275					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.3825A>G	CCDS387.2																																																																																				0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		11	40	0	0	0	0	11	40				
MROH7	374977	broad.mit.edu	37	1	55145695	55145695	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:55145695C>T	ENST00000421030.2	+	13	2643	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	MROH7_ENST00000454855.2_Silent_p.L304L|MROH7_ENST00000545244.1_Silent_p.L354L|MROH7_ENST00000409996.1_Silent_p.L354L|MROH7-TTC4_ENST00000414150.2_Silent_p.L786L|MROH7_ENST00000339553.5_Silent_p.L786L|MROH7_ENST00000395690.2_Silent_p.L786L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	786						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGGCCCTGCTCATGTGCCCCC	0.647																																						uc010ooe.1		NA																	0					0						c.(2356-2358)CTC>CTT		hypothetical protein LOC374977							88.0	100.0	96.0					1																	55145695		2038	4187	6225	SO:0001819	synonymous_variant	374977					integral to membrane	binding	g.chr1:55145695C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2358C>T	1.37:g.55145695C>T						C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L354L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L304L|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Silent_p.L786L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	p.L786L	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			13	2682	+			786			Helical; (Potential).		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.2358C>T	CCDS41342.2																																																																																				0.647	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		60	68	0	0	0	0	60	68				
SLC35D1	23169	broad.mit.edu	37	1	67516168	67516168	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:67516168G>A	ENST00000235345.5	-	5	497	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SLC35D1_ENST00000506472.2_Silent_p.L59L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	138					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AACCTTCTCAGAACTGTAAAC	0.294																																						uc001ddk.2		NA																	0					0						c.(412-414)CTG>TTG		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						40.0	41.0	41.0					1																	67516168		2203	4299	6502	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67516168G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.412C>T	1.37:g.67516168G>A						SLC35D1_uc010oph.1_Silent_p.L59L	p.L138L	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			5	796	-			138					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.412C>T	CCDS636.1																																																																																				0.294	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		10	24	0	0	0	0	10	24				
ZNF644	84146	broad.mit.edu	37	1	91406595	91406595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:91406595C>T	ENST00000370440.1	-	3	533	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF644_ENST00000337393.5_Missense_Mutation_p.E106K|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAAGTTTTCACTAGAAACA	0.408																																						uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(316-318)GAA>AAA		zinc finger protein 644 isoform 1							99.0	97.0	97.0					1																	91406595		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406595C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.316G>A	1.37:g.91406595C>T	ENSP00000359469:p.Glu106Lys					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.E106K	p.E106K	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	458	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	106					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.316G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815810	0.70912	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00623	6.15;6.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.01189	0.0039	L	0.32530	0.975	0.53005	D	0.999967	D	0.67145	0.996	D	0.65140	0.932	T	0.78989	-0.1986	10	0.66056	D	0.02	-20.341	20.2983	0.98569	0.0:1.0:0.0:0.0	.	106	Q9H582	ZN644_HUMAN	K	106	ENSP00000359469:E106K;ENSP00000337008:E106K	ENSP00000337008:E106K	E	-	1	0	ZNF644	91179183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.329000	0.65892	2.802000	0.96397	0.655000	0.94253	GAA		0.408	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		10	45	0	0	0	0	10	45				
LIX1L	128077	broad.mit.edu	37	1	145477381	145477381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:145477381G>A	ENST00000369308.3	+	1	297	c.223G>A	c.(223-225)Gca>Aca	p.A75T	RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	75										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCAGCCCGGCAGTGCTGCG	0.776																																						uc001enr.2		NA																	0				ovary(1)	1						c.(223-225)GCA>ACA		Lix1 homolog (mouse) like							6.0	5.0	5.0					1																	145477381		1573	3040	4613	SO:0001583	missense	128077							g.chr1:145477381G>A	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.223G>A	1.37:g.145477381G>A	ENSP00000358314:p.Ala75Thr					NBPF10_uc001emp.3_Intron	p.A75T	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN			1	297	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		75					Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	c.223G>A	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681460	0.47991	.	.	ENSG00000152022	ENST00000369308	.	.	.	3.92	3.92	0.45320	.	0.444833	0.22503	N	0.059202	T	0.27489	0.0675	L	0.31664	0.95	0.46874	D	0.999231	B	0.28552	0.215	B	0.31245	0.126	T	0.09015	-1.0694	9	0.10636	T	0.68	-0.9618	13.8397	0.63430	0.0:0.0:1.0:0.0	.	75	Q8IVB5	LIX1L_HUMAN	T	75	.	ENSP00000358314:A75T	A	+	1	0	LIX1L	144188738	1.000000	0.71417	0.042000	0.18584	0.846000	0.48090	7.708000	0.84633	2.199000	0.70637	0.478000	0.44815	GCA		0.776	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		3	4	0	0	0	0	3	4				
NUP210L	91181	broad.mit.edu	37	1	154062033	154062033	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154062033A>C	ENST00000368559.3	-	16	2296	c.2225T>G	c.(2224-2226)cTg>cGg	p.L742R	NUP210L_ENST00000271854.3_Missense_Mutation_p.L742R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	742					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTAGGGTTCAGGACACCTGG	0.473																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2224-2226)CTG>CGG		nucleoporin 210kDa-like isoform 1							99.0	99.0	99.0					1																	154062033		1917	4127	6044	SO:0001583	missense	91181					integral to membrane		g.chr1:154062033A>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2225T>G	1.37:g.154062033A>C	ENSP00000357547:p.Leu742Arg					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.L742R	p.L742R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2297	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		742					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2225T>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527938	0.64860	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23348	1.91;1.91	4.57	4.57	0.56435	.	0.000000	0.40728	N	0.001039	T	0.25865	0.0630	L	0.44542	1.39	0.36120	D	0.845413	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.04281	-1.0963	10	0.15952	T	0.53	-11.4927	12.3177	0.54966	1.0:0.0:0.0:0.0	.	742;742	E7EP56;Q5VU65	.;P210L_HUMAN	R	742	ENSP00000357547:L742R;ENSP00000271854:L742R	ENSP00000271854:L742R	L	-	2	0	NUP210L	152328657	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.775000	0.55349	1.915000	0.55452	0.383000	0.25322	CTG		0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		15	78	0	0	0	0	15	78				
SPTA1	6708	broad.mit.edu	37	1	158595954	158595954	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:158595954G>T	ENST00000368147.4	-	42	6072	c.5892C>A	c.(5890-5892)ctC>ctA	p.L1964L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1964					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)					CCAGAAGAGTGAGGAAGTCAC	0.393																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5890-5892)CTC>CTA		spectrin, alpha, erythrocytic 1							121.0	120.0	120.0					1																	158595954		1915	4119	6034	SO:0001819	synonymous_variant	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.chr1:158595954G>T	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.5892C>A	1.37:g.158595954G>T							p.L1964L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			42	6091	-	all_hematologic(112;0.0378)		1964			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5892C>A	CCDS41423.1																																																																																				0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	27	1	0	1.24e-05	2.73e-05	4	27				
ZNF648	127665	broad.mit.edu	37	1	182026706	182026706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:182026706G>A	ENST00000339948.3	-	2	647	c.440C>T	c.(439-441)gCg>gTg	p.A147V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ATCATCACCCGCAGGTAGTCG	0.562																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	0				ovary(1)	1						c.(439-441)GCG>GTG		zinc finger protein 648							77.0	74.0	75.0					1																	182026706		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026706G>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.440C>T	1.37:g.182026706G>A	ENSP00000344129:p.Ala147Val						p.A147V	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	648	-			147					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.440C>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714680	0.30413	.	.	ENSG00000179930	ENST00000339948	T	0.08896	3.04	2.71	-0.387	0.12463	.	.	.	.	.	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	0.999999	B	0.18310	0.027	B	0.09377	0.004	T	0.43458	-0.9390	9	0.27785	T	0.31	.	4.2142	0.10526	0.258:0.1943:0.5477:0.0	.	147	Q5T619	ZN648_HUMAN	V	147	ENSP00000344129:A147V	ENSP00000344129:A147V	A	-	2	0	ZNF648	180293329	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.194000	0.09559	-0.076000	0.12775	-0.140000	0.14226	GCG		0.562	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		10	50	0	0	0	0	10	50				
HMCN1	83872	broad.mit.edu	37	1	186057074	186057074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:186057074C>G	ENST00000271588.4	+	61	9603	c.9374C>G	c.(9373-9375)aCa>aGa	p.T3125R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3125R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3125	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTATCTGACACAGGCCAGTAT	0.348																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(9373-9375)ACA>AGA		hemicentin 1 precursor							119.0	123.0	122.0					1																	186057074		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057074C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9374C>G	1.37:g.186057074C>G	ENSP00000271588:p.Thr3125Arg						p.T3125R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			61	9603	+			3125			Ig-like C2-type 29.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9374C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570993	0.86542	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67171	-0.25;-0.25	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	N	0.16266	0.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73049	-0.4105	10	0.41790	T	0.15	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	3125	Q96RW7	HMCN1_HUMAN	R	3125	ENSP00000271588:T3125R;ENSP00000356462:T3125R	ENSP00000271588:T3125R	T	+	2	0	HMCN1	184323697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.668000	0.90789	0.563000	0.77884	ACA		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	52	0	0	0	0	6	52				
CFHR2	3080	broad.mit.edu	37	1	196928195	196928195	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:196928195T>G	ENST00000367415.5	+	5	898	c.798T>G	c.(796-798)agT>agG	p.S266R	CFHR2_ENST00000367421.3_Missense_Mutation_p.S266R|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.S250R	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	266	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TATATCCCAGTTGTGAAGAAA	0.303																																						uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(796-798)AGT>AGG		H factor (complement)-like 3 precursor							40.0	42.0	41.0					1																	196928195		2203	4297	6500	SO:0001583	missense	3080					extracellular region		g.chr1:196928195T>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.798T>G	1.37:g.196928195T>G	ENSP00000356385:p.Ser266Arg					CFHR2_uc001gtr.1_Missense_Mutation_p.S142R	p.S266R	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	875	+			266			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.798T>G	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	7.676	0.688000	0.14973	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.82893	-1.66;-1.66	3.2	-2.54	0.06307	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.58192	0.2105	N	0.10733	0.035	0.09310	N	1	B;B	0.15141	0.012;0.002	B;B	0.10450	0.005;0.003	T	0.44787	-0.9305	9	0.14656	T	0.56	.	3.1748	0.06565	0.2073:0.3956:0.0:0.3971	.	239;266	P36980-2;P36980	.;FHR2_HUMAN	R	266	ENSP00000356391:S266R;ENSP00000356385:S266R	ENSP00000356385:S266R	S	+	3	2	CFHR2	195194818	0.036000	0.19791	0.001000	0.08648	0.011000	0.07611	-0.129000	0.10515	-0.252000	0.09528	-0.451000	0.05528	AGT		0.303	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		12	33	0	0	0	0	12	33				
NAV1	89796	broad.mit.edu	37	1	201759817	201759817	+	Splice_Site	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:201759817C>A	ENST00000367296.4	+	13	3664	c.3244C>A	c.(3244-3246)Caa>Aaa	p.Q1082K	NAV1_ENST00000367302.1_Splice_Site_p.Q1038K|NAV1_ENST00000367297.4_Splice_Site_p.Q1074K|NAV1_ENST00000295624.6_Splice_Site_p.Q1082K|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Splice_Site_p.Q691K|NAV1_ENST00000367300.3_Splice_Site_p.Q1025K|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1082					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTTTTACAGCAAATCCGGAA	0.448																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(3244-3246)CAA>AAA		neuron navigator 1							138.0	141.0	140.0					1																	201759817		2203	4300	6503	SO:0001630	splice_region_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201759817C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3244-1C>A	1.37:g.201759817C>A						NAV1_uc001gwv.1_Missense_Mutation_p.Q582K|NAV1_uc001gww.1_Missense_Mutation_p.Q683K|NAV1_uc001gwx.2_Missense_Mutation_p.Q691K|NAV1_uc001gwy.1_Missense_Mutation_p.Q455K	p.Q1082K	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			13	3591	+			1082			Potential.		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3244C>A	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.282949|5.282949|5.282949	0.95489|0.95489|0.95489	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|T;T;T;D;T;T|.	.|0.92911|.	.|3.18;3.1;3.1;-3.13;3.18;3.1|.	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	.|.|.	.|0.114234|.	.|0.64402|.	.|D|.	.|0.000009|.	T|T|T	0.73923|0.73923|0.73923	0.3649|0.3649|0.3649	M|M|M	0.65975|0.65975|0.65975	2.015|2.015|2.015	0.50632|0.50632|0.50632	D|D|D	0.999881|0.999881|0.999881	.|D;D;P;D;D|.	.|0.71674|.	.|0.998;0.993;0.841;0.968;0.997|.	.|D;P;P;D;D|.	.|0.75484|.	.|0.986;0.879;0.712;0.959;0.984|.	T|T|T	0.71784|0.71784|0.71784	-0.4488|-0.4488|-0.4488	5|9|5	.|.|.	.|.|.	.|.|.	-12.915|-12.915|-12.915	17.5645|17.5645|17.5645	0.87916|0.87916|0.87916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|1074;691;1082;582;1082|.	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;.;NAV1_HUMAN;.;.|.	Q|K|K	64|1038;1082;1082;1074;1025;582;691|631	.|ENSP00000356271:Q1038K;ENSP00000356265:Q1082K;ENSP00000295624:Q1082K;ENSP00000356266:Q1074K;ENSP00000356269:Q1025K;ENSP00000356264:Q691K|.	.|.|.	H|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200026440|200026440|200026440	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	6.037000|6.037000|6.037000	0.70956|0.70956|0.70956	2.687000|2.687000|2.687000	0.91594|0.91594|0.91594	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	CAC|CAA|ACA		0.448	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	Missense_Mutation	18	89	1	0	1.68e-08	3.88e-08	18	89				
PPFIA4	8497	broad.mit.edu	37	1	203036878	203036878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:203036878G>A	ENST00000447715.2	+	31	3481	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	PPFIA4_ENST00000295706.4_Missense_Mutation_p.E521K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E743K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E521K|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E530K|PPFIA4_ENST00000367240.2_Missense_Mutation_p.E1015K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1014					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGACCGGAAGGAGCTGGAGAA	0.582																																						uc001gyz.2		NA																	0				ovary(4)|skin(1)	5						c.(1588-1590)GAG>AAG		protein tyrosine phosphatase, receptor type, f							91.0	97.0	95.0					1																	203036878		2110	4227	6337	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203036878G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3040G>A	1.37:g.203036878G>A	ENSP00000402576:p.Glu1014Lys					PPFIA4_uc009xaj.2_Missense_Mutation_p.E1161K|PPFIA4_uc010pqf.1_Missense_Mutation_p.E743K|PPFIA4_uc001gza.2_Missense_Mutation_p.E521K|PPFIA4_uc001gzb.1_Missense_Mutation_p.E216K|PPFIA4_uc001gzc.1_Missense_Mutation_p.E72K	p.E530K	NM_015053	NP_055868	O75335	LIPA4_HUMAN			13	2181	+			530			Potential.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1588G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.246961	0.80024	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.24538	2.19;1.88;1.85;1.87;1.85	3.96	3.96	0.45880	Sterile alpha motif/pointed domain (1);	0.000000	0.42682	U	0.000661	T	0.43188	0.1236	M	0.80847	2.515	0.80722	D	1	B;D;B;P;P	0.55172	0.087;0.97;0.025;0.942;0.904	B;B;B;P;B	0.50537	0.055;0.446;0.027;0.643;0.44	T	0.55854	-0.8075	10	0.66056	D	0.02	-23.127	16.558	0.84491	0.0:0.0:1.0:0.0	.	743;1014;216;521;530	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	K	1015;1014;521;743;530	ENSP00000356209:E1015K;ENSP00000402576:E1014K;ENSP00000295706:E521K;ENSP00000400379:E743K;ENSP00000272198:E530K	ENSP00000272198:E530K	E	+	1	0	PPFIA4	201303501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.597000	0.98273	2.198000	0.70561	0.484000	0.47621	GAG		0.582	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		26	54	0	0	0	0	26	54				
ZP4	57829	broad.mit.edu	37	1	238048742	238048742	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:238048742G>A	ENST00000366570.4	-	8	1267	c.1109C>T	c.(1108-1110)aCa>aTa	p.T370I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	370	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTGCTGGGTGTTGCCCAACA	0.537																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	0				ovary(2)|skin(1)	3						c.(1108-1110)ACA>ATA		zona pellucida glycoprotein 4 preproprotein							67.0	69.0	69.0					1																	238048742		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048742G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1109C>T	1.37:g.238048742G>A	ENSP00000355529:p.Thr370Ile					LOC100130331_uc010pyc.1_Intron	p.T370I	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		8	1109	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	370			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1109C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064575	0.36470	.	.	ENSG00000116996	ENST00000366570	D	0.86097	-2.07	4.98	4.07	0.47477	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.058071	0.64402	D	0.000002	D	0.93067	0.7793	H	0.94698	3.57	0.48696	D	0.999698	D	0.89917	1.0	D	0.87578	0.998	D	0.92256	0.5813	10	0.87932	D	0	-9.1157	6.4139	0.21705	0.0932:0.0:0.7269:0.1799	.	370	Q12836	ZP4_HUMAN	I	370	ENSP00000355529:T370I	ENSP00000355529:T370I	T	-	2	0	ZP4	236115365	1.000000	0.71417	0.221000	0.23827	0.080000	0.17528	6.135000	0.71696	1.106000	0.41623	0.655000	0.94253	ACA		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			17	56	0	0	0	0	17	56				
ZNF669	79862	broad.mit.edu	37	1	247264162	247264162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:247264162C>G	ENST00000343381.6	-	4	1081	c.909G>C	c.(907-909)gaG>gaC	p.E303D	ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.E217D|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGTAGGGTTTCTCTCCAGTGT	0.383																																						uc001ice.2		NA																	0					0						c.(907-909)GAG>GAC		zinc finger protein 669 isoform 1							73.0	75.0	74.0					1																	247264162		2203	4300	6503	SO:0001583	missense	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264162C>G		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.909G>C	1.37:g.247264162C>G	ENSP00000342818:p.Glu303Asp					ZNF669_uc001icf.2_Missense_Mutation_p.E217D	p.E303D	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1082	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		303					B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	c.909G>C	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443819	0.43429	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.26810	1.71;1.71	0.544	-0.578	0.11724	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39911	0.1096	M	0.69358	2.11	0.80722	D	1	P;P	0.46656	0.882;0.882	D;D	0.66351	0.916;0.943	T	0.26395	-1.0104	9	0.56958	D	0.05	.	4.5429	0.12067	0.0:0.696:0.0:0.304	.	217;303	B3KP94;Q96BR6	.;ZN669_HUMAN	D	217;217;303	ENSP00000404370:E217D;ENSP00000342818:E303D	ENSP00000342818:E303D	E	-	3	2	ZNF669	245330785	0.001000	0.12720	0.088000	0.20740	0.576000	0.36127	-1.061000	0.03472	-0.285000	0.09089	0.289000	0.19496	GAG		0.383	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		7	49	0	0	0	0	7	49				
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:248637569G>A	ENST00000359594.2	+	1	943	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	306				L -> M (in Ref. 3; BAC05839). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478																																						uc001iel.1		NA																	0				skin(1)	1						c.(916-918)CTG>CTA		olfactory receptor, family 2, subfamily T,							158.0	170.0	166.0					1																	248637569		2202	4296	6498	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637569G>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.918G>A	1.37:g.248637569G>A							p.L306L	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	918	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		306	L -> M (in Ref. 3; BAC05839).		Cytoplasmic (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.918G>A	CCDS31117.1																																																																																				0.478	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		44	349	0	0	0	0	44	349				
ZNF692	55657	broad.mit.edu	37	1	249151487	249151487	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:249151487G>C	ENST00000306601.4	-	4	587	c.421C>G	c.(421-423)Cat>Gat	p.H141D	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.H141D|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000366471.3_Missense_Mutation_p.H141D|ZNF692_ENST00000451251.1_Missense_Mutation_p.H146D|ZNF692_ENST00000427146.1_Missense_Mutation_p.H141D	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	141					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(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTAGTATGTGGAAGGGAG	0.567																																						uc001ifc.1		NA																	0					0						c.(421-423)CAT>GAT		zinc finger protein 692 isoform 2							90.0	92.0	92.0					1																	249151487		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151487G>C	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.421C>G	1.37:g.249151487G>C	ENSP00000305483:p.His141Asp					ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.H141D|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.H141D|ZNF692_uc010pzr.1_Missense_Mutation_p.H146D	p.H141D	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	588	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	141					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.421C>G	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	G	7.596	0.671802	0.14776	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.07021	3.31;3.23;3.23;3.29;3.29	3.89	2.91	0.33838	.	0.890844	0.09661	N	0.772481	T	0.07503	0.0189	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.17098	0.012;0.017;0.012	T	0.38045	-0.9679	10	0.25106	T	0.35	-1.3705	7.5875	0.28002	0.0:0.0:0.6121:0.3879	.	146;141;141	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	D	141;141;141;141;146	ENSP00000305483:H141D;ENSP00000390044:H141D;ENSP00000355427:H141D;ENSP00000355425:H141D;ENSP00000391200:H146D	ENSP00000305483:H141D	H	-	1	0	ZNF692	247118110	0.033000	0.19621	0.010000	0.14722	0.027000	0.11550	0.685000	0.25378	1.085000	0.41206	0.637000	0.83480	CAT		0.567	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		42	53	0	0	0	0	42	53				
ZNF248	57209	broad.mit.edu	37	10	38120569	38120569	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:38120569T>C	ENST00000395867.3	-	6	2264	c.1714A>G	c.(1714-1716)Agg>Ggg	p.R572G	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R572G|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCTTTCACCCTTGTGTGAATT	0.423																																						uc001izd.1		NA																	0				ovary(1)	1						c.(1714-1716)AGG>GGG		zinc finger protein 248							91.0	87.0	88.0					10																	38120569		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120569T>C	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1714A>G	10.37:g.38120569T>C	ENSP00000379208:p.Arg572Gly					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R572G	p.R572G	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	2213	-			572					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1714A>G	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.620616	0.00118	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.07327	3.2;3.2	4.52	3.4	0.38934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.113989	0.40302	N	0.001129	T	0.02193	0.0068	N	0.02011	-0.69	0.37231	D	0.905671	B	0.09022	0.002	B	0.04013	0.001	T	0.38714	-0.9648	10	0.02654	T	1	.	5.1333	0.14922	0.0:0.2003:0.0:0.7997	.	572	Q8NDW4	ZN248_HUMAN	G	572	ENSP00000379208:R572G;ENSP00000349882:R572G	ENSP00000349882:R572G	R	-	1	2	ZNF248	38160575	0.170000	0.23016	0.994000	0.49952	0.017000	0.09413	0.819000	0.27308	2.029000	0.59856	0.528000	0.53228	AGG		0.423	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		10	38	0	0	0	0	10	38				
ZNF33B	7582	broad.mit.edu	37	10	43088343	43088343	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:43088343T>C	ENST00000359467.3	-	5	2169	c.2055A>G	c.(2053-2055)agA>agG	p.R685R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	685					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(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCGTGTGCTTTCTCTCATGTA	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(2053-2055)AGA>AGG		zinc finger protein 33B							123.0	120.0	121.0					10																	43088343		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088343T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2055A>G	10.37:g.43088343T>C						ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.R573R|ZNF33B_uc001jad.2_Intron	p.R685R	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	2170	-			685			C2H2-type 13.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.2055A>G	CCDS7198.1																																																																																				0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		26	62	0	0	0	0	26	62				
ZSWIM8	23053	broad.mit.edu	37	10	75556724	75556724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:75556724G>T	ENST00000605216.1	+	16	3428	c.3211G>T	c.(3211-3213)Ggg>Tgg	p.G1071W	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1038W|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1071W|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G1076W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1076W|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1071							zinc ion binding (GO:0008270)										GAGTGTGGCAGGGGCTGGGCC	0.647																																						uc009xrl.2		NA																	0				breast(1)	1						c.(3211-3213)GGG>TGG		hypothetical protein LOC23053							31.0	33.0	32.0					10																	75556724		1914	4130	6044	SO:0001583	missense	23053						zinc ion binding	g.chr10:75556724G>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3211G>T	10.37:g.75556724G>T	ENSP00000474748:p.Gly1071Trp					KIAA0913_uc001jve.2_Missense_Mutation_p.G1076W|KIAA0913_uc001jvf.2_Missense_Mutation_p.G1071W|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G506W|KIAA0913_uc010qkr.1_Missense_Mutation_p.G494W|KIAA0913_uc001jvj.2_Missense_Mutation_p.G494W|KIAA0913_uc009xrn.1_5'Flank	p.G1071W	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			16	3243	+	Prostate(51;0.0112)		1071					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3211G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.72|14.72|14.72	2.619788|2.619788|2.619788	0.46736|0.46736|0.46736	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198|ENST00000433366	T|.|.	0.49139|.|.	0.79|.|.	5.3|5.3|5.3	4.34|4.34|4.34	0.51931|0.51931|0.51931	.|.|.	0.522123|.|.	0.17541|.|.	U|.|.	0.170523|.|.	T|T|T	0.42314|0.42314|0.42314	0.1197|0.1197|0.1197	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.36296|0.36296|0.36296	D|D|D	0.856733|0.856733|0.856733	D;D;P;D|.|.	0.57257|.|.	0.961;0.979;0.932;0.961|.|.	P;P;P;P|.|.	0.47162|.|.	0.54;0.534;0.54;0.54|.|.	T|T|T	0.45279|0.45279|0.45279	-0.9272|-0.9272|-0.9272	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	-8.1014|-8.1014|-8.1014	5.489|5.489|5.489	0.16765|0.16765|0.16765	0.1619:0.303:0.5351:0.0|0.1619:0.303:0.5351:0.0|0.1619:0.303:0.5351:0.0	.|.|.	1071;1083;1071;1076|.|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.|.	K0913_HUMAN;.;.;.|.|.	W|H|M	1076|345|786	ENSP00000381693:G1076W|.|.	ENSP00000381693:G1076W|.|.	G|Q|R	+|+|+	1|3|2	0|2|0	KIAA0913|KIAA0913|KIAA0913	75226730|75226730|75226730	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	1.980000|1.980000|1.980000	0.40618|0.40618|0.40618	2.482000|2.482000|2.482000	0.83794|0.83794|0.83794	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|CAG|AGG		0.647	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		11	37	1	0	0.000673444	0.00144126	11	37				
SFTPA1	653509	broad.mit.edu	37	10	81373011	81373011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:81373011A>G	ENST00000398636.3	+	5	497	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	SFTPA1_ENST00000419470.2_Missense_Mutation_p.Q135R|SFTPA1_ENST00000372308.3_Missense_Mutation_p.Q120R|SFTPA1_ENST00000428376.2_Missense_Mutation_p.Q120R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.Q61R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	120					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAAATCCTGCAGACAAGGGGA	0.547																																						uc001kap.2		NA																	0					0						c.(358-360)CAG>CGG		surfactant protein A1 isoform 1							191.0	194.0	193.0					10																	81373011		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373011A>G	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.359A>G	10.37:g.81373011A>G	ENSP00000381633:p.Gln120Arg					SFTPA1_uc001kaq.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xry.2_Missense_Mutation_p.Q135R|SFTPA1_uc001kar.2_Missense_Mutation_p.Q120R|SFTPA1_uc010qlt.1_Missense_Mutation_p.Q61R|SFTPA1_uc009xrz.2_Missense_Mutation_p.Q50R|SFTPA1_uc009xsa.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xsf.2_5'Flank	p.Q120R	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		5	480	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		120					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.359A>G	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.692950	0.00731	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	D;D;D;T;D;D;D	0.88741	-2.21;-2.18;-2.18;2.82;-2.13;-2.42;-2.42	2.71	1.56	0.23342	.	0.307905	0.29321	N	0.012498	T	0.78071	0.4226	L	0.43923	1.385	0.20975	N	0.999812	B;B;P	0.38617	0.03;0.018;0.64	B;B;B	0.30251	0.007;0.013;0.113	T	0.66536	-0.5899	10	0.31617	T	0.26	-2.8355	4.5622	0.12166	0.8424:0.0:0.1576:0.0	.	120;135;120	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	R	120;120;120;61;135;120;120;120	ENSP00000361382:Q120R;ENSP00000381633:Q120R;ENSP00000411102:Q120R;ENSP00000361387:Q61R;ENSP00000397082:Q135R;ENSP00000395527:Q120R;ENSP00000401649:Q120R	ENSP00000361382:Q120R	Q	+	2	0	SFTPA1	81043017	0.827000	0.29292	0.286000	0.24833	0.343000	0.28985	1.785000	0.38684	0.452000	0.26830	-0.487000	0.04747	CAG		0.547	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		65	104	0	0	0	0	65	104				
TNKS2	80351	broad.mit.edu	37	10	93582061	93582061	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:93582061T>A	ENST00000371627.4	+	7	1116	c.737T>A	c.(736-738)gTa>gAa	p.V246E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	246					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGTGATCTGGTACCATTACAC	0.328																																						uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(736-738)GTA>GAA		tankyrase, TRF1-interacting ankyrin-related							196.0	177.0	184.0					10																	93582061		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93582061T>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.737T>A	10.37:g.93582061T>A	ENSP00000360689:p.Val246Glu						p.V246E	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			7	1034	+		Colorectal(252;0.162)	246			ANK 5.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.737T>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652244	0.88056	.	.	ENSG00000107854	ENST00000371627	T	0.15487	2.42	5.34	5.34	0.76211	Ankyrin repeat-containing domain (4);	0.000000	0.52532	D	0.000080	T	0.28300	0.0699	N	0.20685	0.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10222	-1.0639	10	0.72032	D	0.01	.	15.3122	0.74042	0.0:0.0:0.0:1.0	.	246	Q9H2K2	TNKS2_HUMAN	E	246	ENSP00000360689:V246E	ENSP00000360689:V246E	V	+	2	0	TNKS2	93572041	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.988000	0.88194	2.011000	0.59026	0.528000	0.53228	GTA		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		46	43	0	0	0	0	46	43				
RAB11FIP2	22841	broad.mit.edu	37	10	119799785	119799785	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:119799785A>G	ENST00000355624.3	-	2	1084	c.645T>C	c.(643-645)ttT>ttC	p.F215F	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.F215F|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	215					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCCAAGAGAAAAGGCTTTT	0.433																																						uc001ldj.1		NA																	0					0						c.(643-645)TTT>TTC		RAB11 family interacting protein 2							186.0	189.0	188.0					10																	119799785		2203	4299	6502	SO:0001819	synonymous_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799785A>G	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.645T>C	10.37:g.119799785A>G						RAB11FIP2_uc009xyz.1_Silent_p.F215F	p.F215F	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1085	-		Colorectal(252;0.235)	215					A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	ENST00000355624.3	37	c.645T>C	CCDS7602.1																																																																																				0.433	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		22	67	0	0	0	0	22	67				
DMBT1	1755	broad.mit.edu	37	10	124348656	124348656	+	Silent	SNP	C	C	T	rs373490476		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:124348656C>T	ENST00000338354.3	+	17	2086	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	DMBT1_ENST00000368909.3_Silent_p.G660G|DMBT1_ENST00000344338.3_Silent_p.G650G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Silent_p.G650G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	660	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(1978-1980)GGC>GGT		deleted in malignant brain tumors 1 isoform b		C	,,	0,4004		0,0,2002	192.0	141.0	158.0		,1980,1950	2.3	0.5	10		158	2,8230		0,2,4114	no	intron,coding-synonymous,coding-synonymous	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,,	0,2,6116	TT,TC,CC		0.0243,0.0,0.0163	,,	,660/2414,650/2404	124348656	2,12234	2002	4116	6118	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124348656C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1980C>T	10.37:g.124348656C>T						DMBT1_uc001lgl.1_Silent_p.G650G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G660G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.G660G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			17	2086	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	660			SRCR 5.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.1980C>T																																																																																					0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		58	158	0	0	0	0	58	158				
MUC5B	727897	broad.mit.edu	37	11	1263375	1263375	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:1263375C>T	ENST00000529681.1	+	31	5323	c.5265C>T	c.(5263-5265)acC>acT	p.T1755T	MUC5B_ENST00000447027.1_Silent_p.T1758T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1755	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTGTCCACCTCTCAGGCCG	0.642																																						uc009ycr.1		NA																	0					0						c.(7342-7344)ACC>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							33.0	39.0	37.0					11																	1263375		2183	4273	6456	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263375C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5265C>T	11.37:g.1263375C>T						MUC5B_uc001ltb.2_Silent_p.T1758T	p.T2448T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7470	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1755			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7344C>T	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	23	0	0	0	0	9	23				
SCUBE2	57758	broad.mit.edu	37	11	9080855	9080855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:9080855C>G	ENST00000309263.3	-	9	1157	c.1085G>C	c.(1084-1086)tGc>tCc	p.C362S	SCUBE2_ENST00000457346.2_Missense_Mutation_p.C362S|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C362S|RP11-467K18.2_ENST00000531592.1_RNA|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C362S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	362	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATACCTTGGCAAGACTTCTC	0.483																																						uc001mhh.1		NA																	0				ovary(1)|skin(1)	2						c.(1084-1086)TGC>TCC		CEGP1 protein precursor							86.0	78.0	81.0					11																	9080855		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9080855C>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1085G>C	11.37:g.9080855C>G	ENSP00000310658:p.Cys362Ser					SCUBE2_uc001mhi.1_Missense_Mutation_p.C362S|SCUBE2_uc001mhj.1_Missense_Mutation_p.C362S	p.C362S	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	9	1165	-			362			EGF-like 7; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1085G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.553647|4.553647	0.86231|0.86231	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000519788;ENST00000531429|ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	.|D;D;D;D	.|0.99948	.|-8.68;-8.68;-8.68;-8.68	5.85|5.85	5.85|5.85	0.93711|0.93711	.|EGF-like region, conserved site (1);EGF-like calcium-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99969|0.99969	0.9989|0.9989	H|H	0.99811|0.99811	4.8|4.8	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.80764	.|0.986;0.994;0.987	D|D	0.96779|0.96779	0.9574|0.9574	5|10	.|0.87932	.|D	.|0	.|.	20.1663|20.1663	0.98152|0.98152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|362;362;362	.|Q9NQ36-3;Q9NQ36-2;Q9NQ36	.|.;.;SCUB2_HUMAN	P|S	86;127|362	.|ENSP00000390481:C362S;ENSP00000310658:C362S;ENSP00000415187:C362S;ENSP00000429969:C362S	.|ENSP00000310658:C362S	A|C	-|-	1|2	0|0	SCUBE2|SCUBE2	9037431|9037431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.483	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		8	38	0	0	0	0	8	38				
CHST1	8534	broad.mit.edu	37	11	45671418	45671418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:45671418G>C	ENST00000308064.2	-	4	1726	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	352					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGCCGCCGAGTTTCGCACGG	0.672																																						uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(1054-1056)AAC>AAG		carbohydrate (keratan sulfate Gal-6)							56.0	59.0	58.0					11																	45671418		2203	4298	6501	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671418G>C	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1056C>G	11.37:g.45671418G>C	ENSP00000309270:p.Asn352Lys						p.N352K	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1727	-			352			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.1056C>G	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110339	0.37242	.	.	ENSG00000175264	ENST00000308064	D	0.82255	-1.59	4.68	3.77	0.43336	Sulfotransferase domain (1);	0.109173	0.64402	D	0.000006	T	0.80160	0.4572	L	0.53729	1.69	0.48975	D	0.999731	P	0.43231	0.801	B	0.43990	0.438	T	0.78625	-0.2131	10	0.52906	T	0.07	-17.2333	9.2009	0.37258	0.1671:0.0:0.8329:0.0	.	352	O43916	CHST1_HUMAN	K	352	ENSP00000309270:N352K	ENSP00000309270:N352K	N	-	3	2	CHST1	45627994	1.000000	0.71417	0.994000	0.49952	0.312000	0.27988	6.824000	0.75288	0.950000	0.37743	0.313000	0.20887	AAC		0.672	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		47	42	0	0	0	0	47	42				
OR8I2	120586	broad.mit.edu	37	11	55861217	55861217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:55861217G>C	ENST00000302124.2	+	1	465	c.434G>C	c.(433-435)gGa>gCa	p.G145A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACTGGCTGGGAGTAATGCCA	0.433																																						uc010rix.1		NA																	0				breast(1)	1						c.(433-435)GGA>GCA		olfactory receptor, family 8, subfamily I,							148.0	136.0	140.0					11																	55861217		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861217G>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.434G>C	11.37:g.55861217G>C	ENSP00000303864:p.Gly145Ala						p.G145A	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	434	+	Esophageal squamous(21;0.00693)		145			Helical; Name=4; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.434G>C	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	2.153	-0.394041	0.04899	.	.	ENSG00000172154	ENST00000302124	T	0.35789	1.29	4.33	-8.65	0.00870	GPCR, rhodopsin-like superfamily (1);	1.447040	0.05199	N	0.504620	T	0.08891	0.0220	N	0.00201	-1.865	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43523	-0.9386	10	0.30854	T	0.27	0.3198	13.2882	0.60255	0.0:0.6041:0.23:0.1659	.	145	Q8N0Y5	OR8I2_HUMAN	A	145	ENSP00000303864:G145A	ENSP00000303864:G145A	G	+	2	0	OR8I2	55617793	0.000000	0.05858	0.001000	0.08648	0.224000	0.24922	-1.818000	0.01717	-1.262000	0.02459	0.440000	0.28878	GGA		0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		45	52	0	0	0	0	45	52				
EHD1	10938	broad.mit.edu	37	11	64622855	64622855	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:64622855T>C	ENST00000320631.3	-	4	1273	c.1019A>G	c.(1018-1020)cAg>cGg	p.Q340R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q340R|EHD1_ENST00000488711.1_5'Flank	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCAATCTTCTGGTAGATCTC	0.557											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obu.1		NA																	0					0						c.(1018-1020)CAG>CGG		EH-domain containing 1							141.0	132.0	135.0					11																	64622855		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622855T>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1019A>G	11.37:g.64622855T>C	ENSP00000320516:p.Gln340Arg		OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	EHD1_uc001obt.1_Missense_Mutation_p.Q23R|EHD1_uc001obv.1_Missense_Mutation_p.Q340R|EHD1_uc010rnq.1_Missense_Mutation_p.Q354R	p.Q340R	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN			4	1274	-			340					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1019A>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104365	0.20632	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.42513	2.32;2.32;0.97;1.57	4.63	3.5	0.40072	.	0.763265	0.12699	N	0.446484	T	0.23451	0.0567	N	0.19112	0.55	0.28456	N	0.916139	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24657	-1.0154	10	0.15499	T	0.54	.	5.1843	0.15176	0.1724:0.0:0.216:0.6116	.	340;340	B2R5U3;Q9H4M9	.;EHD1_HUMAN	R	340;340;316;354;204;354	ENSP00000320516:Q340R;ENSP00000352354:Q340R;ENSP00000391429:Q204R;ENSP00000404944:Q354R	ENSP00000320516:Q340R	Q	-	2	0	EHD1	64379431	0.029000	0.19370	1.000000	0.80357	0.954000	0.61252	0.484000	0.22308	0.803000	0.34113	0.459000	0.35465	CAG		0.557	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		22	72	0	0	0	0	22	72				
PPP6R3	55291	broad.mit.edu	37	11	68318642	68318642	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:68318642G>T	ENST00000393800.2	+	6	860	c.606G>T	c.(604-606)tcG>tcT	p.S202S	PPP6R3_ENST00000524845.1_Silent_p.S202S|PPP6R3_ENST00000265636.5_Silent_p.S202S|PPP6R3_ENST00000529710.1_Silent_p.S202S|PPP6R3_ENST00000527403.2_Silent_p.S202S|PPP6R3_ENST00000524904.1_Silent_p.S202S|PPP6R3_ENST00000265637.4_Silent_p.S202S|PPP6R3_ENST00000393799.2_Silent_p.S202S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393801.3_Silent_p.S202S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	202					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCATCCATCGCAAGAAGAAG	0.333																																						uc001onw.2		NA																	0					0						c.(604-606)TCG>TCT		SAPS domain family, member 3 isoform 6							101.0	98.0	99.0					11																	68318642		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68318642G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.606G>T	11.37:g.68318642G>T						SAPS3_uc010rqb.1_Silent_p.S111S|SAPS3_uc001onv.2_Silent_p.S202S|SAPS3_uc001ony.3_Silent_p.S202S|SAPS3_uc001onx.2_Silent_p.S202S|SAPS3_uc009ysh.2_Silent_p.S202S|SAPS3_uc001onu.2_Silent_p.S202S|SAPS3_uc010rqc.1_Intron	p.S202S	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		6	873	+			202					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.606G>T	CCDS53672.1																																																																																				0.333	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		15	50	1	0	7.93e-07	1.79e-06	15	50				
P2RY2	5029	broad.mit.edu	37	11	72945507	72945507	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:72945507C>T	ENST00000311131.2	+	3	770	c.303C>T	c.(301-303)ttC>ttT	p.F101F	P2RY2_ENST00000393596.2_Silent_p.F101F|P2RY2_ENST00000393597.2_Silent_p.F101F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	101					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTGGCCCTTCAGCACGGTGC	0.597																																						uc001otj.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(301-303)TTC>TTT		purinergic receptor P2Y2	Suramin(DB04786)						96.0	86.0	89.0					11																	72945507		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945507C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.303C>T	11.37:g.72945507C>T						P2RY2_uc001otk.2_Silent_p.F101F|P2RY2_uc001otl.2_Silent_p.F101F	p.F101F	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	636	+			101			Extracellular (Potential).		B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.303C>T	CCDS8219.1																																																																																				0.597	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		21	96	0	0	0	0	21	96				
OR2AT4	341152	broad.mit.edu	37	11	74800310	74800310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:74800310G>A	ENST00000305159.3	-	1	489	c.449C>T	c.(448-450)gCa>gTa	p.A150V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCACTGGCTGCCAAGGTAGC	0.557																																						uc010rro.1		NA																	0				ovary(1)	1						c.(448-450)GCA>GTA		olfactory receptor, family 2, subfamily AT,							101.0	96.0	98.0					11																	74800310		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800310G>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.449C>T	11.37:g.74800310G>A	ENSP00000304846:p.Ala150Val						p.A150V	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	449	-			150			Helical; Name=4; (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.449C>T	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243463	0.58995	.	.	ENSG00000171561	ENST00000305159	T	0.70282	-0.47	5.26	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31922	U	0.006845	T	0.65974	0.2743	L	0.28694	0.88	0.30728	N	0.74755	D	0.89917	1.0	D	0.97110	1.0	T	0.63242	-0.6681	10	0.02654	T	1	.	5.3147	0.15849	0.3432:0.0:0.6568:0.0	.	150	A6NND4	O2AT4_HUMAN	V	150	ENSP00000304846:A150V	ENSP00000304846:A150V	A	-	2	0	OR2AT4	74477958	0.000000	0.05858	1.000000	0.80357	0.611000	0.37282	0.760000	0.26475	1.350000	0.45770	0.650000	0.86243	GCA		0.557	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		47	57	0	0	0	0	47	57				
GAB2	9846	broad.mit.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562																																						uc001ozh.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(5)|lung(1)	6						c.(1786-1788)GTT>ATT		GRB2-associated binding protein 2 isoform a		C	ILE/VAL,ILE/VAL	2,4398	6.2+/-15.9	0,2,2198	82.0	78.0	79.0		1672,1786	1.4	0.7	11	dbSNP_134	79	0,8584		0,0,4292	no	missense,missense	GAB2	NM_012296.3,NM_080491.2	29,29	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	558/639,596/677	77931466	2,12982	2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77931466C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1786G>A	11.37:g.77931466C>T	ENSP00000354952:p.Val596Ile					GAB2_uc001ozg.2_Missense_Mutation_p.V558I	p.V596I	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		9	1786	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		596					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1786G>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863725	0.32884	4.55E-4	0.0	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.23754	1.89;1.89	5.61	1.42	0.22433	.	0.236850	0.34700	N	0.003748	T	0.20129	0.0484	L	0.50333	1.59	0.22511	N	0.999031	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	10	0.29301	T	0.29	-1.7283	8.3525	0.32310	0.0:0.5517:0.0:0.4483	.	596	Q9UQC2	GAB2_HUMAN	I	558;596	ENSP00000343959:V558I;ENSP00000354952:V596I	ENSP00000343959:V558I	V	-	1	0	GAB2	77609114	0.920000	0.31207	0.685000	0.30070	0.961000	0.63080	1.853000	0.39358	0.053000	0.16036	-0.136000	0.14681	GTT		0.562	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		10	43	0	0	0	0	10	43				
TYR	7299	broad.mit.edu	37	11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:89018057G>C	ENST00000263321.5	+	4	1803	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	434			R -> I (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCACTGTACAGAAATGGTGAT	0.403																																						uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3	GRCh37	CM041868	TYR	M		c.(1300-1302)AGA>ACA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						76.0	77.0	77.0					11																	89018057		2201	4298	6499	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89018057G>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1301G>C	11.37:g.89018057G>C	ENSP00000263321:p.Arg434Thr						p.R434T	NM_000372	NP_000363	P14679	TYRO_HUMAN			4	1383	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	434		R -> I (in OCA1A).	Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1301G>C	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	4.329	0.060435	0.08339	.	.	ENSG00000077498	ENST00000263321	D	0.98474	-4.95	4.68	1.46	0.22682	Uncharacterised domain, di-copper centre (2);	0.162166	0.53938	D	0.000043	D	0.91690	0.7373	N	0.04686	-0.185	0.43798	D	0.996341	B	0.09022	0.002	B	0.08055	0.003	D	0.83950	0.0316	9	.	.	.	.	8.234	0.31614	0.1583:0.2297:0.612:0.0	.	434	P14679	TYRO_HUMAN	T	434	ENSP00000263321:R434T	.	R	+	2	0	TYR	88657705	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	2.512000	0.45485	0.428000	0.26173	0.555000	0.69702	AGA		0.403	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		17	44	0	0	0	0	17	44				
PZP	5858	broad.mit.edu	37	12	9307283	9307283	+	Missense_Mutation	SNP	T	T	A	rs140597579	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:9307283T>A	ENST00000261336.2	-	29	3731	c.3703A>T	c.(3703-3705)Acc>Tcc	p.T1235S	PZP_ENST00000381997.2_Missense_Mutation_p.T1021S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1235					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTGCAGAGGTCAGGTCCCCT	0.557																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3703-3705)ACC>TCC		pregnancy-zone protein precursor							94.0	80.0	85.0					12																	9307283		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9307283T>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3703A>T	12.37:g.9307283T>A	ENSP00000261336:p.Thr1235Ser					PZP_uc009zgl.2_Missense_Mutation_p.T1021S	p.T1235S	NM_002864	NP_002855					29	3732	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3703A>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.363855	0.01235	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36520	1.25;1.25	3.66	-0.631	0.11526	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.629098	0.13583	U	0.377207	T	0.15869	0.0382	N	0.17564	0.495	0.09310	N	1	B;B	0.29988	0.264;0.095	B;B	0.28305	0.033;0.088	T	0.21008	-1.0258	10	0.17369	T	0.5	.	3.2997	0.06979	0.39:0.1901:0.0:0.4198	.	1021;1235	P20742-2;P20742	.;PZP_HUMAN	S	1235;1021	ENSP00000261336:T1235S;ENSP00000371427:T1021S	ENSP00000261336:T1235S	T	-	1	0	PZP	9198550	0.000000	0.05858	0.011000	0.14972	0.007000	0.05969	-0.203000	0.09438	0.096000	0.17463	-0.376000	0.06991	ACC		0.557	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		24	38	0	0	0	0	24	38				
DHH	50846	broad.mit.edu	37	12	49488008	49488008	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:49488008G>A	ENST00000266991.2	-	1	594	c.288C>T	c.(286-288)gaC>gaT	p.D96D	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	96					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						TCATCAGGCGGTCGGCTCCAC	0.642																																						uc001rtf.2		NA																	0				lung(1)|breast(1)	2						c.(286-288)GAC>GAT		desert hedgehog preproprotein							77.0	76.0	76.0					12																	49488008		2203	4300	6503	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488008G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.288C>T	12.37:g.49488008G>A							p.D96D	NM_021044	NP_066382	O43323	DHH_HUMAN			1	595	-			96					Q15794	Silent	SNP	ENST00000266991.2	37	c.288C>T	CCDS8779.1																																																																																				0.642	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		20	40	0	0	0	0	20	40				
SP7	121340	broad.mit.edu	37	12	53722831	53722831	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:53722831G>T	ENST00000536324.2	-	3	678	c.395C>A	c.(394-396)aCa>aAa	p.T132K	SP7_ENST00000537210.2_Missense_Mutation_p.T114K|SP7_ENST00000303846.3_Missense_Mutation_p.T132K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	132					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATAGGGGTGTGTCATGTCCAG	0.602																																						uc001sct.2		NA																	0					0						c.(394-396)ACA>AAA		osterix							57.0	61.0	60.0					12																	53722831		2030	4188	6218	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722831G>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.395C>A	12.37:g.53722831G>T	ENSP00000443827:p.Thr132Lys					SP7_uc001scu.2_Missense_Mutation_p.T114K|SP7_uc001scv.2_Missense_Mutation_p.T132K	p.T132K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	502	-			132					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.395C>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891660	0.33442	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.42900	3.38;3.38;3.39;0.96	4.03	4.03	0.46877	.	0.452872	0.23043	N	0.052592	T	0.33644	0.0870	L	0.36672	1.1	0.43756	D	0.996262	B	0.12013	0.005	B	0.12156	0.007	T	0.24476	-1.0159	10	0.66056	D	0.02	.	11.8426	0.52364	0.0:0.1782:0.8218:0.0	.	132	Q8TDD2	SP7_HUMAN	K	132;132;114;114	ENSP00000443827:T132K;ENSP00000302812:T132K;ENSP00000441367:T114K;ENSP00000449355:T114K	ENSP00000302812:T132K	T	-	2	0	SP7	52009098	0.994000	0.37717	0.995000	0.50966	0.741000	0.42261	6.104000	0.71498	2.183000	0.69458	0.313000	0.20887	ACA		0.602	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			16	40	1	0	2.23e-06	4.99e-06	16	40				
MON2	23041	broad.mit.edu	37	12	62954421	62954421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:62954421C>T	ENST00000393632.2	+	26	3951	c.3560C>T	c.(3559-3561)aCa>aTa	p.T1187I	MON2_ENST00000546600.1_Missense_Mutation_p.T1187I|MON2_ENST00000552738.1_Missense_Mutation_p.T1164I|MON2_ENST00000393629.2_Missense_Mutation_p.T1187I|MON2_ENST00000393630.3_Missense_Mutation_p.T1188I|MON2_ENST00000280379.6_Missense_Mutation_p.T1188I	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1187					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCCTGAGACACCACCTGTA	0.443																																						uc001sre.2		NA																	0				central_nervous_system(2)	2						c.(3559-3561)ACA>ATA		MON2 homolog							93.0	86.0	88.0					12																	62954421		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954421C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3560C>T	12.37:g.62954421C>T	ENSP00000377252:p.Thr1187Ile					MON2_uc009zqj.2_Missense_Mutation_p.T1187I|MON2_uc010ssl.1_Missense_Mutation_p.T1115I|MON2_uc010ssm.1_Missense_Mutation_p.T1164I|MON2_uc010ssn.1_Missense_Mutation_p.T1187I|MON2_uc001srf.2_Missense_Mutation_p.T950I|MON2_uc001srg.2_Missense_Mutation_p.T62I	p.T1187I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	26	3951	+			1188					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3560C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471554	0.43942	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.92	4.92	0.64577	.	0.194272	0.45867	D	0.000338	T	0.51176	0.1659	N	0.22421	0.69	0.45791	D	0.998672	B;B;B;B;B	0.30281	0.029;0.078;0.05;0.145;0.275	B;B;B;B;B	0.33196	0.01;0.025;0.023;0.075;0.159	T	0.46219	-0.9207	9	.	.	.	-8.1806	18.4793	0.90806	0.0:1.0:0.0:0.0	.	1187;1164;1187;62;1187	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	I	1187;1188;1188;1187;1164;1187	ENSP00000377252:T1187I;ENSP00000377250:T1188I;ENSP00000280379:T1188I;ENSP00000447407:T1187I;ENSP00000449215:T1164I;ENSP00000377249:T1187I	.	T	+	2	0	MON2	61240688	1.000000	0.71417	0.683000	0.30040	0.794000	0.44872	6.030000	0.70903	2.445000	0.82738	0.650000	0.86243	ACA		0.443	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		15	32	0	0	0	0	15	32				
LRRIQ1	84125	broad.mit.edu	37	12	85623415	85623415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:85623415G>T	ENST00000393217.2	+	25	5004	c.4943G>T	c.(4942-4944)aGa>aTa	p.R1648I	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1648										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTAGTTCCAGAAATATGAAA	0.338																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4942-4944)AGA>ATA		leucine-rich repeats and IQ motif containing 1							87.0	82.0	84.0					12																	85623415		1829	4074	5903	SO:0001583	missense	84125							g.chr12:85623415G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4943G>T	12.37:g.85623415G>T	ENSP00000376910:p.Arg1648Ile						p.R1648I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	5054	+			1648					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4943G>T	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.636903|2.636903	0.47049|0.47049	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000526363|ENST00000393217	.|T	.|0.69435	.|-0.4	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69079	.|0.3071	N|N	0.24115|0.24115	0.695|0.695	0.44562|0.44562	D|D	0.997521|0.997521	.|D	.|0.89917	.|1.0	.|D	.|0.71184	.|0.972	.|T	.|0.71576	.|-0.4551	.|9	.|0.87932	.|D	.|0	.|.	11.1337|11.1337	0.48362|0.48362	0.1261:0.0:0.8739:0.0|0.1261:0.0:0.8739:0.0	.|.	.|1648	.|Q96JM4	.|LRIQ1_HUMAN	X|I	69|1648	.|ENSP00000376910:R1648I	.|ENSP00000376910:R1648I	E|R	+|+	1|2	0|0	LRRIQ1|LRRIQ1	84147546|84147546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.813000|1.813000	0.38962|0.38962	2.805000|2.805000	0.96524|0.96524	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		9	49	1	0	1.59e-06	3.57e-06	9	49				
MYBPC1	4604	broad.mit.edu	37	12	102030483	102030483	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:102030483C>T	ENST00000550270.1	+	8	567	c.567C>T	c.(565-567)gaC>gaT	p.D189D	MYBPC1_ENST00000360610.2_Silent_p.D189D|MYBPC1_ENST00000392934.3_Silent_p.D176D|MYBPC1_ENST00000361685.2_Silent_p.D214D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.D189D|MYBPC1_ENST00000547405.1_Silent_p.D163D|MYBPC1_ENST00000541119.1_Silent_p.D177D|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000553190.1_Silent_p.D189D|MYBPC1_ENST00000547509.1_Silent_p.D175D|MYBPC1_ENST00000452455.2_Silent_p.D189D|MYBPC1_ENST00000361466.2_Silent_p.D214D|MYBPC1_ENST00000545503.2_Silent_p.D189D|MYBPC1_ENST00000549145.1_Silent_p.D202D|MYBPC1_ENST00000551300.1_Silent_p.D90D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	189					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGAACTTGACTTTAGTGGTC	0.428																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(565-567)GAC>GAT		myosin binding protein C, slow type isoform 3							151.0	138.0	142.0					12																	102030483		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102030483C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.567C>T	12.37:g.102030483C>T						MYBPC1_uc001tif.1_Silent_p.D202D|MYBPC1_uc001tig.2_Silent_p.D214D|MYBPC1_uc010svq.1_Silent_p.D176D|MYBPC1_uc001tih.2_Silent_p.D214D|MYBPC1_uc001tij.2_Silent_p.D189D|MYBPC1_uc010svr.1_Silent_p.D189D|MYBPC1_uc010svs.1_Silent_p.D189D|MYBPC1_uc010svt.1_Silent_p.D177D|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Silent_p.D163D	p.D189D	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			8	669	+			189					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.567C>T	CCDS9085.1																																																																																				0.428	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			7	21	0	0	0	0	7	21				
TMEM116	89894	broad.mit.edu	37	12	112369498	112369498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:112369498C>G	ENST00000550831.3	-	10	1033	c.665G>C	c.(664-666)aGa>aCa	p.R222T	TMEM116_ENST00000355445.3_Missense_Mutation_p.R279T|TMEM116_ENST00000552374.2_Missense_Mutation_p.R314T|TMEM116_ENST00000549537.2_Missense_Mutation_p.R128T|TMEM116_ENST00000354825.3_Missense_Mutation_p.R222T|TMEM116_ENST00000437003.2_Missense_Mutation_p.R222T	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	222						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTATAGAATCTCTTCTGTGA	0.453																																						uc001ttc.1		NA																	0				ovary(1)	1						c.(664-666)AGA>ACA		transmembrane protein 116							147.0	136.0	139.0					12																	112369498		2203	4300	6503	SO:0001583	missense	89894					integral to membrane		g.chr12:112369498C>G	AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.665G>C	12.37:g.112369498C>G	ENSP00000450377:p.Arg222Thr					TMEM116_uc001ttd.1_Missense_Mutation_p.R314T|TMEM116_uc001tte.1_Missense_Mutation_p.R279T|TMEM116_uc001ttf.1_Missense_Mutation_p.R222T|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Missense_Mutation_p.R128T	p.R222T	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN			13	1321	-			222					G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	c.665G>C	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	c	17.80	3.479278	0.63849	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000549537;ENST00000552374	T;T;T;T;T	0.52057	0.7;0.68;0.68;0.68;0.69	5.44	5.44	0.79542	.	0.181464	0.41097	D	0.000954	T	0.54062	0.1835	L	0.29908	0.895	0.32053	N	0.59671	D;D;D;D	0.89917	0.988;0.998;1.0;0.998	P;P;D;D	0.83275	0.844;0.9;0.996;0.943	T	0.58440	-0.7636	10	0.34782	T	0.22	-12.226	11.5316	0.50614	0.0:0.9166:0.0:0.0834	.	128;279;314;222	G3V1Z3;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	T	279;222;222;222;128;314	ENSP00000347620:R279T;ENSP00000346883:R222T;ENSP00000450377:R222T;ENSP00000395861:R222T;ENSP00000447731:R314T	ENSP00000346883:R222T	R	-	2	0	TMEM116	110853881	1.000000	0.71417	0.995000	0.50966	0.724000	0.41520	2.864000	0.48404	2.570000	0.86706	0.467000	0.42956	AGA		0.453	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341		22	64	0	0	0	0	22	64				
KNTC1	9735	broad.mit.edu	37	12	123019279	123019279	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:123019279A>G	ENST00000333479.7	+	3	375	c.198A>G	c.(196-198)tcA>tcG	p.S66S	KNTC1_ENST00000450485.2_Silent_p.S66S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	66					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCGACCAATCAGTGATATTGC	0.353																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(196-198)TCA>TCG		Rough Deal homolog, centromere/kinetochore							164.0	147.0	153.0					12																	123019279		1878	4115	5993	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123019279A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.198A>G	12.37:g.123019279A>G						KNTC1_uc010taf.1_Silent_p.S66S	p.S66S	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	3	361	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		66					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.198A>G	CCDS45002.1																																																																																				0.353	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			3	21	0	0	0	0	3	21				
GRTP1	79774	broad.mit.edu	37	13	114009696	114009696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr13:114009696G>C	ENST00000375431.4	-	3	356	c.282C>G	c.(280-282)taC>taG	p.Y94*	GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375430.4_Nonsense_Mutation_p.Y94*|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000326039.3_Nonsense_Mutation_p.Y16*	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	94	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCTGGTGGTAGTAGCCGGGAT	0.672																																						uc001vtn.2		NA																	0					0						c.(280-282)TAC>TAG		growth hormone regulated TBC protein 1							77.0	69.0	72.0					13																	114009696		2203	4300	6503	SO:0001587	stop_gained	79774					intracellular	Rab GTPase activator activity	g.chr13:114009696G>C	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.282C>G	13.37:g.114009696G>C	ENSP00000364580:p.Tyr94*					GRTP1_uc010tkb.1_Nonsense_Mutation_p.Y16*|GRTP1_uc010tkc.1_Nonsense_Mutation_p.Y94*|GRTP1_uc010agv.1_RNA	p.Y94*	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	379	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	94			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Nonsense_Mutation	SNP	ENST00000375431.4	37	c.282C>G	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777976	0.90195	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	.	.	.	4.5	0.296	0.15757	.	0.214110	0.40640	U	0.001043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5705	0.33567	0.6004:0.0:0.3996:0.0	.	.	.	.	X	94;16;94	.	ENSP00000321850:Y16X	Y	-	3	2	GRTP1	113057697	1.000000	0.71417	0.992000	0.48379	0.721000	0.41392	0.598000	0.24074	0.073000	0.16731	0.591000	0.81541	TAC		0.672	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		42	6	0	0	0	0	42	6				
SCFD1	23256	broad.mit.edu	37	14	31139469	31139469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:31139469A>G	ENST00000458591.2	+	11	1090	c.863A>G	c.(862-864)cAt>cGt	p.H288R	SCFD1_ENST00000421551.3_Missense_Mutation_p.H229R|SCFD1_ENST00000396629.2_Missense_Mutation_p.H196R|SCFD1_ENST00000541123.1_Missense_Mutation_p.H103R|SCFD1_ENST00000544052.2_Missense_Mutation_p.H221R	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	288					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATTTCCATTTAAACAGG	0.338																																						uc001wqm.1		NA																	0					0						c.(862-864)CAT>CGT		vesicle transport-related protein isoform a							99.0	121.0	114.0					14																	31139469		2202	4293	6495	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31139469A>G	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.863A>G	14.37:g.31139469A>G	ENSP00000390783:p.His288Arg					SCFD1_uc001wqn.1_Missense_Mutation_p.H221R|SCFD1_uc010tpg.1_Missense_Mutation_p.H229R|SCFD1_uc010tph.1_Missense_Mutation_p.H103R|SCFD1_uc010amf.1_Missense_Mutation_p.H103R|SCFD1_uc010tpi.1_Missense_Mutation_p.H196R|SCFD1_uc010amd.1_Missense_Mutation_p.H120R|SCFD1_uc010ame.1_Missense_Mutation_p.H221R	p.H288R	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	11	887	+	Hepatocellular(127;0.0877)		288					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.863A>G	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	9.757	1.169138	0.21621	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.46	4.31	0.51392	.	0.047997	0.85682	D	0.000000	T	0.17577	0.0422	N	0.14661	0.345	0.54753	D	0.999985	B;B;B;B	0.15141	0.006;0.002;0.012;0.006	B;B;B;B	0.20577	0.03;0.013;0.017;0.017	T	0.05582	-1.0876	10	0.14252	T	0.57	-25.6398	11.6127	0.51069	0.9297:0.0:0.0703:0.0	.	229;221;196;288	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	R	288;221;229;103;196	ENSP00000390783:H288R;ENSP00000443010:H221R;ENSP00000388078:H229R;ENSP00000443537:H103R;ENSP00000379870:H196R	ENSP00000309417:H296R	H	+	2	0	SCFD1	30209220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.778000	0.85637	0.995000	0.38917	0.528000	0.53228	CAT		0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		72	140	0	0	0	0	72	140				
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:70634091C>T	ENST00000381269.2	-	2	1802	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S350N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S350N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	350					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1048-1050)AGC>AAC		solute carrier family 8 (sodium/calcium							90.0	91.0	91.0					14																	70634091		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634091C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1049G>A	14.37:g.70634091C>T	ENSP00000370669:p.Ser350Asn					SLC8A3_uc001xlw.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlx.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlz.2_Missense_Mutation_p.S350N|SLC8A3_uc010ara.2_RNA	p.S350N	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1803	-			350			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1049G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814998	0.70912	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.44083	1.0;0.93;1.06;1.0;1.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.985;0.992	D;D;D;D	0.81914	0.995;0.989;0.968;0.968	T	0.77940	-0.2399	10	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	350;350;350;350	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	350	ENSP00000349392:S350N;ENSP00000370669:S350N;ENSP00000350560:S350N;ENSP00000436688:S350N;ENSP00000433531:S350N	ENSP00000349392:S350N	S	-	2	0	SLC8A3	69703844	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	AGC		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			17	66	0	0	0	0	17	66				
RIN3	79890	broad.mit.edu	37	14	93118236	93118236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:93118236C>T	ENST00000216487.7	+	6	1001	c.842C>T	c.(841-843)cCa>cTa	p.P281L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	281	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGccgcccaccaccccctccc	0.711																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(841-843)CCA>CTA		Ras and Rab interactor 3							22.0	26.0	24.0					14																	93118236		2201	4296	6497	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118236C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.842C>T	14.37:g.93118236C>T	ENSP00000216487:p.Pro281Leu					RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P206L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	p.P281L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	994	+		all_cancers(154;0.0701)	281			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.842C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023891	0.35701	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.11063	2.81	4.65	4.65	0.58169	.	0.215161	0.39020	N	0.001484	T	0.11067	0.0270	L	0.36672	1.1	0.80722	D	1	P;B	0.35745	0.518;0.335	B;B	0.32864	0.154;0.058	T	0.08249	-1.0731	10	0.66056	D	0.02	-2.9626	17.1546	0.86787	0.0:1.0:0.0:0.0	.	206;281	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	L	281	ENSP00000216487:P281L	ENSP00000216487:P281L	P	+	2	0	RIN3	92187989	0.014000	0.17966	0.019000	0.16419	0.449000	0.32228	1.190000	0.32126	2.157000	0.67596	0.313000	0.20887	CCA		0.711	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			25	23	0	0	0	0	25	23				
MGA	23269	broad.mit.edu	37	15	42054540	42054540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42054540G>C	ENST00000570161.1	+	21	7724	c.7724G>C	c.(7723-7725)aGa>aCa	p.R2575T	MGA_ENST00000566586.1_Missense_Mutation_p.R2366T|MGA_ENST00000219905.7_Missense_Mutation_p.R2575T|MGA_ENST00000389936.4_Missense_Mutation_p.R2536T|MGA_ENST00000545763.1_Missense_Mutation_p.R2366T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTTTCCAGAAAAAAAGAC	0.423																																						uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7723-7725)AGA>ACA		MAX-interacting protein isoform 1							73.0	74.0	73.0					15																	42054540		1840	4075	5915	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42054540G>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7724G>C	15.37:g.42054540G>C	ENSP00000457035:p.Arg2575Thr					MGA_uc010ucz.1_Missense_Mutation_p.R2366T|MGA_uc010uda.1_Missense_Mutation_p.R1191T	p.R2575T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	22	7905	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2536					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7724G>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182045	0.78677	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.88586	-2.37;-2.36;-2.4	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000018	D	0.88955	0.6578	N	0.14661	0.345	0.31079	N	0.712131	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.946	D	0.88023	0.2770	10	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	2366;2575	F5H7K2;E7ENI0	.;.	T	2575;2536;2366	ENSP00000219905:R2575T;ENSP00000374586:R2536T;ENSP00000442467:R2366T	ENSP00000219905:R2575T	R	+	2	0	MGA	39841832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.079000	0.57613	2.937000	0.99478	0.650000	0.86243	AGA		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	62	0	0	0	0	9	62				
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42166142G>T	ENST00000320955.6	-	25	5018	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4684-4686)ATC>ATA		spectrin, beta, non-erythrocytic 5							39.0	45.0	43.0					15																	42166142		2053	4223	6276	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42166142G>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4791C>A	15.37:g.42166142G>T							p.I1562I	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	25	5019	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1597			Spectrin 12.			Silent	SNP	ENST00000320955.6	37	c.4686C>A																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		22	24	1	0	3.62e-10	8.55e-10	22	24				
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:51773152G>T	ENST00000251076.5	-	24	6438	c.6151C>A	c.(6151-6153)Ctt>Att	p.L2051I	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415I|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363																																						uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(6151-6153)CTT>ATT		Dmx-like 2							114.0	115.0	115.0					15																	51773152		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51773152G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6151C>A	15.37:g.51773152G>T	ENSP00000251076:p.Leu2051Ile					DMXL2_uc002abd.2_Missense_Mutation_p.L121I|DMXL2_uc010ufy.1_Missense_Mutation_p.L2051I|DMXL2_uc010bfa.2_Missense_Mutation_p.L1415I	p.L2051I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6376	-			2051					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6151C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416249	0.83449	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79454	-1.27;-1.27;-1.27	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.998;0.999	D;D;D;D	0.87578	0.998;0.965;0.984;0.967	D	0.90997	0.4839	10	0.87932	D	0	.	19.4267	0.94743	0.0:0.0:1.0:0.0	.	2051;1415;2051;2051	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	I	2051;2051;1415	ENSP00000251076:L2051I;ENSP00000441858:L2051I;ENSP00000400855:L1415I	ENSP00000251076:L2051I	L	-	1	0	DMXL2	49560444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.202000	0.77856	2.582000	0.87167	0.655000	0.94253	CTT		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		5	108	1	0	0.00116845	0.00249268	5	108				
TMOD2	29767	broad.mit.edu	37	15	52058689	52058689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52058689A>T	ENST00000249700.4	+	2	272	c.51A>T	c.(49-51)gaA>gaT	p.E17D	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E17D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	17					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACATTGATGAAGATGAGCTTC	0.423																																						uc002abk.2		NA																	0				ovary(2)	2						c.(49-51)GAA>GAT		neuronal tropomodulin isoform a							108.0	102.0	104.0					15																	52058689		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52058689A>T	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.51A>T	15.37:g.52058689A>T	ENSP00000249700:p.Glu17Asp					TMOD2_uc002abl.3_Missense_Mutation_p.E17D|TMOD2_uc010bfb.2_Translation_Start_Site	p.E17D	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	2	272	+			17					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.51A>T	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430647	0.83776	.	.	ENSG00000128872	ENST00000435126;ENST00000249700	T;T	0.36520	1.25;1.25	5.76	-0.571	0.11749	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	M	0.82823	2.61	0.45762	D	0.998659	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54536	-0.8279	10	0.46703	T	0.11	-19.8911	10.3951	0.44196	0.5866:0.0:0.4134:0.0	.	17;17	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	D	17	ENSP00000404590:E17D;ENSP00000249700:E17D	ENSP00000249700:E17D	E	+	3	2	TMOD2	49845981	0.949000	0.32298	0.976000	0.42696	0.998000	0.95712	0.147000	0.16202	-0.352000	0.08237	0.482000	0.46254	GAA		0.423	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			20	26	0	0	0	0	20	26				
MYO5A	4644	broad.mit.edu	37	15	52697571	52697571	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52697571T>A	ENST00000399231.3	-	9	1209	c.966A>T	c.(964-966)caA>caT	p.Q322H	MYO5A_ENST00000553916.1_Missense_Mutation_p.Q322H|MYO5A_ENST00000399233.2_Missense_Mutation_p.Q322H|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q322H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q322H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	322	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATTCCCATTTGATGAGATT	0.363																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(964-966)CAA>CAT		myosin VA isoform 1							82.0	73.0	76.0					15																	52697571		1857	4098	5955	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52697571T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.966A>T	15.37:g.52697571T>A	ENSP00000382177:p.Gln322His					MYO5A_uc002abx.3_Missense_Mutation_p.Q322H|MYO5A_uc010uge.1_Missense_Mutation_p.Q191H	p.Q322H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	9	1210	-			322			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.966A>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994314	0.74703	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81	5.73	4.75	0.60458	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	H	0.97707	4.06	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	D	0.97766	1.0223	10	0.87932	D	0	.	6.7263	0.23359	0.0:0.829:0.0:0.171	.	322;322	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	322	ENSP00000382177:Q322H;ENSP00000382179:Q322H;ENSP00000348693:Q322H;ENSP00000350945:Q322H;ENSP00000451109:Q322H	ENSP00000348693:Q322H	Q	-	3	2	MYO5A	50484863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.001000	0.40825	1.352000	0.45808	0.454000	0.30748	CAA		0.363	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		8	21	0	0	0	0	8	21				
HERC1	8925	broad.mit.edu	37	15	64067261	64067261	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:64067261G>C	ENST00000443617.2	-	2	649	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	188					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCGTTGCAAAGACTGAGACCA	0.418																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(562-564)CTT>GTT		hect domain and RCC1-like domain 1							240.0	238.0	239.0					15																	64067261		1987	4162	6149	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067261G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.562C>G	15.37:g.64067261G>C	ENSP00000390158:p.Leu188Val					HERC1_uc010uil.1_Missense_Mutation_p.L188V|HERC1_uc010bgt.1_Missense_Mutation_p.L188V|HERC1_uc002amq.1_Missense_Mutation_p.L188V	p.L188V	NM_003922	NP_003913	Q15751	HERC1_HUMAN			2	710	-			188					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.562C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809122	0.70797	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00638	6.04	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000005	T	0.03564	0.0102	M	0.65498	2.005	0.58432	D	0.999998	D;D;D	0.67145	0.996;0.99;0.993	D;P;D	0.75484	0.986;0.86;0.967	T	0.49204	-0.8964	10	0.66056	D	0.02	.	19.7186	0.96134	0.0:0.0:1.0:0.0	.	188;188;188	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	V	188	ENSP00000390158:L188V	ENSP00000389613:L188V	L	-	1	0	HERC1	61854314	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.713000	0.68415	2.659000	0.90383	0.655000	0.94253	CTT		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		73	213	0	0	0	0	73	213				
CRABP1	1381	broad.mit.edu	37	15	78640277	78640277	+	Silent	SNP	C	C	T	rs201099878		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:78640277C>T	ENST00000299529.6	+	4	477	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	124					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	AGACGTTTGGCGCCGATGACG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18987	0.0		0.001	False		,,,				2504	0.0				Ovarian(146;578 3231 38536)	uc002bdp.2		NA																	0					0						c.(370-372)GGC>GGT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						165.0	147.0	153.0					15																	78640277		2196	4293	6489	SO:0001819	synonymous_variant	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78640277C>T		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.372C>T	15.37:g.78640277C>T							p.G124G	NM_004378	NP_004369	P29762	RABP1_HUMAN			4	477	+			124					Q6IAY7|Q8WTV5	Silent	SNP	ENST00000299529.6	37	c.372C>T	CCDS10301.1																																																																																				0.478	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		34	45	0	0	0	0	34	45				
TICRR	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90119305C>T	ENST00000268138.7	+	1	593	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S163L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	163					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCCGCACTCGCAGAGGGAG	0.682																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(487-489)TCG>TTG		leucine-rich repeat kinase 1							16.0	20.0	19.0					15																	90119305		1992	4153	6145	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90119305C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.488C>T	15.37:g.90119305C>T	ENSP00000268138:p.Ser163Leu						p.S163L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		1	488	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		163					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.488C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	34	5.409802	0.96072	.	.	ENSG00000140534	ENST00000268138	T	0.24723	1.84	4.65	4.65	0.58169	.	0.073332	0.56097	D	0.000025	T	0.49915	0.1585	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.53697	-0.8402	10	0.87932	D	0	-5.6558	17.6984	0.88288	0.0:1.0:0.0:0.0	.	163	Q7Z2Z1	TICRR_HUMAN	L	163	ENSP00000268138:S163L	ENSP00000268138:S163L	S	+	2	0	C15orf42	87920309	1.000000	0.71417	0.878000	0.34440	0.995000	0.86356	6.446000	0.73460	2.396000	0.81511	0.591000	0.81541	TCG		0.682	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		9	8	0	0	0	0	9	8				
IQGAP1	8826	broad.mit.edu	37	15	90984777	90984777	+	Missense_Mutation	SNP	G	G	A	rs372323221		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90984777G>A	ENST00000268182.5	+	8	813	c.689G>A	c.(688-690)cGt>cAt	p.R230H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	230					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTATTGACCGTAGAATTCCA	0.353																																						uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(688-690)CGT>CAT		IQ motif containing GTPase activating protein 1		G	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	76.0	73.0	74.0		689	-6.4	0.0	15		74	0,8596		0,0,4298	no	missense	IQGAP1	NM_003870.3	29	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	230/1658	90984777	1,12991	2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90984777G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.689G>A	15.37:g.90984777G>A	ENSP00000268182:p.Arg230His						p.R230H	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		8	790	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		230					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.689G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831988	0.32421	2.27E-4	0.0	ENSG00000140575	ENST00000268182	T	0.06608	3.28	4.93	-6.37	0.01963	.	0.674449	0.15439	N	0.262299	T	0.04137	0.0115	N	0.17345	0.48	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.18967	-1.0320	10	0.44086	T	0.13	-0.2711	16.0529	0.80775	0.48:0.0:0.52:0.0	.	230	P46940	IQGA1_HUMAN	H	230	ENSP00000268182:R230H	ENSP00000268182:R230H	R	+	2	0	IQGAP1	88785781	0.000000	0.05858	0.033000	0.17914	0.950000	0.60333	-0.196000	0.09532	-1.860000	0.01154	-0.797000	0.03246	CGT		0.353	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		16	45	0	0	0	0	16	45				
CREBBP	1387	broad.mit.edu	37	16	3778359	3778359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:3778359T>A	ENST00000262367.5	-	31	7498	c.6689A>T	c.(6688-6690)cAg>cTg	p.Q2230L	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q2192L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2230					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTGGAACTGGCCGTGCCC	0.672			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(6688-6690)CAG>CTG		CREB binding protein isoform a							19.0	18.0	18.0					16																	3778359		2197	4295	6492	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778359T>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6689A>T	16.37:g.3778359T>A	ENSP00000262367:p.Gln2230Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.Q2192L	p.Q2230L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6893	-		Ovarian(90;0.0266)	2230					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6689A>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	10.83	1.461578	0.26248	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.85258	-1.96;-1.85	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.80226	0.4584	L	0.32530	0.975	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.39706	0.307;0.307	T	0.80591	-0.1314	10	0.41790	T	0.15	-11.8885	15.4109	0.74917	0.0:0.0:0.0:1.0	.	2260;2230	Q4LE28;Q92793	.;CBP_HUMAN	L	2230;2260;2192;765	ENSP00000262367:Q2230L;ENSP00000371502:Q2192L	ENSP00000262367:Q2230L	Q	-	2	0	CREBBP	3718360	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.699000	0.84547	2.038000	0.60285	0.533000	0.62120	CAG		0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		9	9	0	0	0	0	9	9				
ANKRD11	29123	broad.mit.edu	37	16	89351103	89351103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:89351103T>G	ENST00000301030.4	-	9	2307	c.1847A>C	c.(1846-1848)gAg>gCg	p.E616A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E616A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	616					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCGCCCTCCGCGCTGGA	0.537																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1846-1848)GAG>GCG		ankyrin repeat domain 11							41.0	46.0	44.0					16																	89351103		2198	4297	6495	SO:0001583	missense	29123					nucleus		g.chr16:89351103T>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1847A>C	16.37:g.89351103T>G	ENSP00000301030:p.Glu616Ala					ANKRD11_uc002fmy.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnc.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnb.1_Missense_Mutation_p.E573A	p.E616A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2308	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	616					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1847A>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473684	0.26423	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.51574	0.7;0.7	5.36	5.36	0.76844	.	0.174488	0.48767	D	0.000171	T	0.43100	0.1232	L	0.38175	1.15	0.80722	D	1	P;B	0.38504	0.634;0.293	B;B	0.39379	0.298;0.054	T	0.46735	-0.9170	10	0.72032	D	0.01	.	15.3345	0.74241	0.0:0.0:0.0:1.0	.	235;616	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	A	616;616;235	ENSP00000301030:E616A;ENSP00000367581:E616A	ENSP00000301030:E616A	E	-	2	0	ANKRD11	87878604	1.000000	0.71417	0.053000	0.19242	0.003000	0.03518	7.735000	0.84939	2.036000	0.60181	0.459000	0.35465	GAG		0.537	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	41	0	0	0	0	10	41				
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7577129A>C	ENST00000269305.4	-	8	998	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000420246.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000445888.2_Missense_Mutation_p.F270C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACGCACCTCAAAGCTGTTCCG	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(808-810)TTT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	50.0	53.0					17																	7577129		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577129A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.809T>G	17.37:g.7577129A>C	ENSP00000269305:p.Phe270Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138C|TP53_uc010cng.1_Missense_Mutation_p.F138C|TP53_uc002gii.1_Missense_Mutation_p.F138C|TP53_uc010cnh.1_Missense_Mutation_p.F270C|TP53_uc010cni.1_Missense_Mutation_p.F270C|TP53_uc002gij.2_Missense_Mutation_p.F270C	p.F270C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1003	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	270		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.809T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931796	0.73442	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93;-6.93;-6.93	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.75085	2.285	0.58432	D	0.999998	D;P;D;D	0.89917	1.0;0.711;1.0;1.0	D;P;D;D	0.91635	0.999;0.448;0.999;0.999	D	0.97007	0.9733	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	270;270;270;270;270;259;138	ENSP00000352610:F270C;ENSP00000269305:F270C;ENSP00000398846:F270C;ENSP00000391127:F270C;ENSP00000391478:F270C;ENSP00000425104:F138C	ENSP00000269305:F270C	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	15	0	0	0	0	14	15				
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7578217G>A	ENST00000269305.4	-	6	821	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000455263.2_Missense_Mutation_p.T211I|TP53_ENST00000420246.2_Missense_Mutation_p.T211I|TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000445888.2_Missense_Mutation_p.T211I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGTCGAAAAGTGTTTCTGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		38	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	biliary_tract(5)|central_nervous_system(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|large_intestine(3)|stomach(2)|oesophagus(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|urinary_tract(1)|liver(1)|skin(1)|lung(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(631-633)ACT>ATT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							141.0	125.0	130.0					17																	7578217		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578217G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.632C>T	17.37:g.7578217G>A	ENSP00000269305:p.Thr211Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.2_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.1_Missense_Mutation_p.T172I	p.T211I	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	826	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	211		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.632C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856746	0.97030	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99795	-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78;-6.78	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.967;0.993;0.997;0.998;1.0	D;D;P;D;D;D;D	0.83275	0.996;0.992;0.866;0.953;0.992;0.99;0.992	D	0.97163	0.9839	10	0.87932	D	0	-10.3896	17.0767	0.86588	0.0:0.0:1.0:0.0	.	172;211;211;118;211;211;211	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	211;211;211;211;211;211;200;118;79;118;79	ENSP00000410739:T211I;ENSP00000352610:T211I;ENSP00000269305:T211I;ENSP00000398846:T211I;ENSP00000391127:T211I;ENSP00000391478:T211I;ENSP00000425104:T79I;ENSP00000423862:T118I	ENSP00000269305:T211I	T	-	2	0	TP53	7518942	1.000000	0.71417	0.118000	0.21660	0.884000	0.51177	7.961000	0.87903	2.702000	0.92279	0.655000	0.94253	ACT		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	22	0	0	0	0	14	22				
CTC1	80169	broad.mit.edu	37	17	8131878	8131878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:8131878G>A	ENST00000315684.8	-	22	3464	c.3457C>T	c.(3457-3459)Cgt>Tgt	p.R1153C		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1153					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACAATAGGACGGAGGACAGAG	0.507																																						uc002gkq.3		NA																	0					0						c.(3457-3459)CGT>TGT		alpha accessory factor 132							200.0	204.0	203.0					17																	8131878		1961	4138	6099	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131878G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3457C>T	17.37:g.8131878G>A	ENSP00000313759:p.Arg1153Cys					C17orf68_uc010cnv.2_RNA	p.R1153C	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			22	3516	-			1153					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3457C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353819	0.61293	.	.	ENSG00000178971	ENST00000315684	D	0.87334	-2.24	5.56	5.56	0.83823	.	0.124328	0.56097	D	0.000037	D	0.92925	0.7749	M	0.74881	2.28	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.93400	0.6759	10	0.87932	D	0	-19.7383	15.0352	0.71741	0.0:0.0:1.0:0.0	.	1153	Q2NKJ3	CTC1_HUMAN	C	1153	ENSP00000313759:R1153C	ENSP00000313759:R1153C	R	-	1	0	CTC1	8072603	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	5.272000	0.65559	2.640000	0.89533	0.655000	0.94253	CGT		0.507	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		57	234	0	0	0	0	57	234				
ZSWIM7	125150	broad.mit.edu	37	17	15902870	15902870	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:15902870C>G	ENST00000399277.1	-	1	136	c.39G>C	c.(37-39)ctG>ctC	p.L13L	TTC19_ENST00000261647.5_5'UTR|ZSWIM7_ENST00000472495.1_Silent_p.L13L|ZSWIM7_ENST00000486655.1_5'UTR|ZSWIM7_ENST00000399280.2_Intron|TTC19_ENST00000486880.2_Nonsense_Mutation_p.S24*	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	13					double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		CCATCTCGCTCAGGAGCTCCT	0.746																																						uc002gph.1		NA																	0				skin(1)	1						c.(70-72)TCA>TGA		tetratricopeptide repeat domain 19							10.0	8.0	9.0					17																	15902870		2065	4109	6174	SO:0001819	synonymous_variant	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15902870C>G	AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"""Zinc fingers, SWIM-type"""	26993	protein-coding gene	gene with protein product	"""SWIM domain containing Srs2 interacting protein 1"""	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.39G>C	17.37:g.15902870C>G						ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA	p.S24*	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	1	89	+			Error:Variant_position_missing_in_Q6DKK2_after_alignment						Nonsense_Mutation	SNP	ENST00000399277.1	37	c.71C>G	CCDS42266.1	.	.	.	.	.	.	.	.	.	.	C	37	6.618239	0.97709	.	.	ENSG00000011295	ENST00000555605	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3554	0.60625	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000261647:S24X	S	+	2	0	TTC19	15843595	0.986000	0.35501	1.000000	0.80357	0.976000	0.68499	1.393000	0.34497	2.613000	0.88420	0.514000	0.50259	TCA		0.746	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131736.1	NM_001042697		3	12	0	0	0	0	3	12				
TOP3A	7156	broad.mit.edu	37	17	18178288	18178288	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:18178288G>T	ENST00000321105.5	-	19	3048	c.2834C>A	c.(2833-2835)tCt>tAt	p.S945Y	TOP3A_ENST00000540524.1_Missense_Mutation_p.S475Y|TOP3A_ENST00000542570.1_Missense_Mutation_p.S850Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	945					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGGGCTCCAGAAGTCCCTGT	0.592																																						uc002gsx.1		NA																	0				skin(3)	3						c.(2833-2835)TCT>TAT		topoisomerase (DNA) III alpha							51.0	56.0	55.0					17																	18178288		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18178288G>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2834C>A	17.37:g.18178288G>T	ENSP00000321636:p.Ser945Tyr					TOP3A_uc010cpz.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxr.1_Missense_Mutation_p.S475Y|TOP3A_uc002gsw.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxs.1_Missense_Mutation_p.S843Y	p.S945Y	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			19	3063	-			945					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2834C>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048107	0.19827	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.13307	2.95;2.6;2.95	5.6	-0.962	0.10333	.	1.641270	0.02722	N	0.114101	T	0.11537	0.0281	L	0.27053	0.805	0.09310	N	1	B;B	0.27559	0.181;0.112	B;B	0.26864	0.074;0.034	T	0.36261	-0.9755	10	0.19147	T	0.46	-0.1102	12.2562	0.54625	0.4964:0.0:0.5036:0.0	.	850;945	B4DK80;Q13472	.;TOP3A_HUMAN	Y	945;475;850	ENSP00000321636:S945Y;ENSP00000446425:S475Y;ENSP00000442336:S850Y	ENSP00000321636:S945Y	S	-	2	0	TOP3A	18119013	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.963000	0.29293	-0.108000	0.12066	-0.311000	0.09066	TCT		0.592	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			26	56	1	0	4.78e-09	1.11e-08	26	56				
CACNB1	782	broad.mit.edu	37	17	37343809	37343809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37343809G>T	ENST00000394303.3	-	4	544	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	CACNB1_ENST00000344140.5_Missense_Mutation_p.P113T|CACNB1_ENST00000394310.3_Missense_Mutation_p.P113T|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	113	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGGAGACGGATTGTAGCCA	0.562																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(337-339)CCG>ACG		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						157.0	134.0	142.0					17																	37343809		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37343809G>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.337C>A	17.37:g.37343809G>T	ENSP00000377840:p.Pro113Thr					CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.P113T|CACNB1_uc002hro.2_Missense_Mutation_p.P113T|CACNB1_uc002hrp.1_Missense_Mutation_p.P113T|CACNB1_uc010web.1_Missense_Mutation_p.P66T	p.P113T	NM_000723	NP_000714	Q02641	CACB1_HUMAN			4	490	-			113			SH3.		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.337C>A	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677068	0.68042	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83914	-1.78;-1.78;-1.78	4.61	4.61	0.57282	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.90314	0.6970	M	0.72353	2.195	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.935;0.999;1.0	D;D;P;D;D	0.83275	0.994;0.996;0.81;0.991;0.996	D	0.91663	0.5344	10	0.87932	D	0	-11.9618	16.5762	0.84648	0.0:0.0:1.0:0.0	.	66;113;113;113;113	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	T	63;113;113;113;66	ENSP00000377840:P113T;ENSP00000345461:P113T;ENSP00000377847:P113T	ENSP00000345461:P113T	P	-	1	0	CACNB1	34597335	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	2.053000	0.41326	2.273000	0.75805	0.313000	0.20887	CCG		0.562	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			53	71	1	0	2.17e-26	5.31e-26	53	71				
KRT27	342574	broad.mit.edu	37	17	38933792	38933792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:38933792A>T	ENST00000301656.3	-	6	1205	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ATCAGGAGGCAGTAGGTCTCA	0.443																																						uc002hvg.2		NA																	0					0						c.(1165-1167)TGC>AGC		keratin 27							100.0	100.0	100.0					17																	38933792		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933792A>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1165T>A	17.37:g.38933792A>T	ENSP00000301656:p.Cys389Ser						p.C389S	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			6	1206	-		Breast(137;0.000812)	389			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1165T>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715769	0.48622	.	.	ENSG00000171446	ENST00000301656	D	0.88277	-2.36	5.56	4.49	0.54785	Filament (1);	0.079132	0.56097	D	0.000032	D	0.89822	0.6826	L	0.53249	1.67	0.37513	D	0.917214	B	0.31931	0.347	P	0.48873	0.593	D	0.89140	0.3516	10	0.59425	D	0.04	.	6.6464	0.22936	0.7433:0.0:0.2567:0.0	.	389	Q7Z3Y8	K1C27_HUMAN	S	389	ENSP00000301656:C389S	ENSP00000301656:C389S	C	-	1	0	KRT27	36187318	0.997000	0.39634	1.000000	0.80357	0.829000	0.46940	0.505000	0.22642	1.052000	0.40392	0.528000	0.53228	TGC		0.443	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		23	105	0	0	0	0	23	105				
TUBD1	51174	broad.mit.edu	37	17	57951959	57951959	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:57951959C>A	ENST00000592426.1	-	5	875	c.875G>T	c.(874-876)tGg>tTg	p.W292L	TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.W292L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.W292L|TUBD1_ENST00000539018.1_Missense_Mutation_p.W76L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	292					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GAGGCCAGCCCAAGTAAATGT	0.418																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(874-876)TGG>TTG		delta-tubulin							204.0	193.0	197.0					17																	57951959		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57951959C>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.875G>T	17.37:g.57951959C>A	ENSP00000468518:p.Trp292Leu					TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.W257L|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Missense_Mutation_p.W292L|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Missense_Mutation_p.W76L|TUBD1_uc010ddi.1_Intron	p.W292L	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1153	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		292					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.875G>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922140	0.92319	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.77358	-1.09;-0.75	5.62	5.62	0.85841	Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.974	D	0.88269	0.2928	10	0.33141	T	0.24	-6.4982	19.6572	0.95847	0.0:1.0:0.0:0.0	.	292;292	E9PCA7;Q9UJT1	.;TBD_HUMAN	L	292;292;76	ENSP00000320797:W292L;ENSP00000377785:W292L	ENSP00000320797:W292L	W	-	2	0	TUBD1	55306741	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.342000	0.79310	2.651000	0.90000	0.563000	0.77884	TGG		0.418	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		7	244	1	0	0.00198382	0.00419222	7	244				
ITGB4	3691	broad.mit.edu	37	17	73749930	73749930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:73749930C>T	ENST00000200181.3	+	33	4380	c.4193C>T	c.(4192-4194)cCg>cTg	p.P1398L	ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000450894.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000449880.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1398					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATCCCGCGCCTGTCG	0.776																																						uc002jpg.2		NA																	0				lung(4)	4						c.(4192-4194)CCG>CTG		integrin beta 4 isoform 1 precursor							5.0	6.0	6.0					17																	73749930		2078	4070	6148	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73749930C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4193C>T	17.37:g.73749930C>T	ENSP00000200181:p.Pro1398Leu					ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron	p.P1398L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4380	+	all_cancers(13;1.5e-07)		1398			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4193C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649674	0.87958	.	.	ENSG00000132470	ENST00000200181	T	0.75367	-0.93	4.05	4.05	0.47172	.	0.400737	0.25109	U	0.033071	T	0.72890	0.3517	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.50860	0.652	T	0.78056	-0.2353	10	0.72032	D	0.01	.	16.4126	0.83723	0.0:1.0:0.0:0.0	.	1398	P16144	ITB4_HUMAN	L	1398	ENSP00000200181:P1398L	ENSP00000200181:P1398L	P	+	2	0	ITGB4	71261525	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.954000	0.29175	2.093000	0.63338	0.455000	0.32223	CCG		0.776	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			7	7	0	0	0	0	7	7				
ENGASE	64772	broad.mit.edu	37	17	77073809	77073809	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:77073809C>G	ENST00000579016.1	+	3	279	c.279C>G	c.(277-279)ctC>ctG	p.L93L	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	93						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGGAGCTCTTGGCGTGGA	0.547																																						uc002jwv.2		NA																	1	Deletion - In frame(1)		breast(1)	skin(1)	1						c.(277-279)CTC>CTG		endo-beta-N-acetylglucosaminidase							100.0	103.0	102.0					17																	77073809		1959	4137	6096	SO:0001819	synonymous_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073809C>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.279C>G	17.37:g.77073809C>G						ENGASE_uc002jwu.1_Silent_p.L93L|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	p.L93L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			3	287	+			93					Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	c.279C>G	CCDS42394.1																																																																																				0.547	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		56	65	0	0	0	0	56	65				
C18orf8	29919	broad.mit.edu	37	18	21111620	21111620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:21111620C>G	ENST00000269221.3	+	20	2036	c.1926C>G	c.(1924-1926)ttC>ttG	p.F642L	C18orf8_ENST00000590868.1_Missense_Mutation_p.F594L|NPC1_ENST00000269228.5_3'UTR|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	642						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGCTTTTTTCAAACAGATTT	0.348																																						uc010xax.1		NA																	0				ovary(1)	1						c.(1924-1926)TTC>TTG		colon cancer-associated protein Mic1							141.0	139.0	140.0					18																	21111620		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21111620C>G	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1926C>G	18.37:g.21111620C>G	ENSP00000269221:p.Phe642Leu					C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Nonsense_Mutation_p.S225*|NPC1_uc010dlu.1_Intron|NPC1_uc010xaz.1_3'UTR|NPC1_uc002kum.3_3'UTR	p.F642L	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			21	2047	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		642					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1926C>G	CCDS32803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.058466|4.058466	0.76074|0.76074	.|.	.|.	ENSG00000141452|ENSG00000141452	ENST00000269221;ENST00000540942;ENST00000542734|ENST00000544799	.|.	.|.	.|.	5.76|5.76	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69717|.	0.3142|.	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|.	0.66736|.	-0.5848|.	9|.	0.54805|0.16420	T|T	0.06|0.52	-25.7605|-25.7605	11.9279|11.9279	0.52829|0.52829	0.0:0.8608:0.0:0.1392|0.0:0.8608:0.0:0.1392	.|.	642|.	Q96DM3|.	MIC1_HUMAN|.	L|X	642;594;485|444	.|.	ENSP00000269221:F642L|ENSP00000439363:S444X	F|S	+|+	3|2	2|0	C18orf8|C18orf8	19365618|19365618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.566000|1.566000	0.36396|0.36396	1.578000|1.578000	0.49821|0.49821	0.650000|0.650000	0.86243|0.86243	TTC|TCA		0.348	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		24	76	0	0	0	0	24	76				
HAUS1	115106	broad.mit.edu	37	18	43698200	43698200	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:43698200C>A	ENST00000282058.6	+	3	339	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	87					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCCCGCCAATCTCTCTAGCAC	0.418																																					NSCLC(79;183 1423 5813 15597 38427)	uc002lbu.2		NA																	0				ovary(1)	1						c.(259-261)CTC>ATC		coiled-coil domain containing 5							116.0	111.0	113.0					18																	43698200		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43698200C>A	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.259C>A	18.37:g.43698200C>A	ENSP00000282058:p.Leu87Ile					HAUS1_uc002lbv.2_Missense_Mutation_p.L11I	p.L87I	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN			3	339	+			87					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.259C>A	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900696	0.72754	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.78801	2.425	0.53005	D	0.999963	D	0.89917	1.0	D	0.85130	0.997	T	0.79249	-0.1881	9	0.72032	D	0.01	-19.9037	10.3593	0.43982	0.0:0.9096:0.0:0.0904	.	87	Q96CS2	HAUS1_HUMAN	I	87	.	ENSP00000282058:L87I	L	+	1	0	HAUS1	41952198	0.942000	0.31987	0.988000	0.46212	0.861000	0.49209	1.670000	0.37502	2.623000	0.88846	0.650000	0.86243	CTC		0.418	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		17	77	1	0	8.34e-07	1.88e-06	17	77				
AP3D1	8943	broad.mit.edu	37	19	2110868	2110868	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:2110868C>G	ENST00000345016.5	-	25	3058	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	AP3D1_ENST00000355272.6_Missense_Mutation_p.E1005Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E902Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E774Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	943					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGTCCTCCTGCAGACTG	0.622																																						uc002luz.2		NA																	0					0						c.(2827-2829)GAG>CAG		adaptor-related protein complex 3, delta 1							42.0	44.0	43.0					19																	2110868		2202	4291	6493	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110868C>G	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2827G>C	19.37:g.2110868C>G	ENSP00000344055:p.Glu943Gln					AP3D1_uc010dsv.2_Missense_Mutation_p.E33Q|AP3D1_uc002luy.2_Missense_Mutation_p.E902Q|AP3D1_uc002lva.2_Missense_Mutation_p.E1005Q	p.E943Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3050	-		Hepatocellular(1079;0.137)	943					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.2827G>C	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329627	0.24167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.81	1.54	0.23209	.	0.389773	0.28465	N	0.015257	T	0.15176	0.0366	N	0.02539	-0.55	0.29925	N	0.822403	B;B;B;B	0.23990	0.095;0.089;0.04;0.032	B;B;B;B	0.25614	0.062;0.047;0.038;0.037	T	0.26916	-1.0089	10	0.13853	T	0.58	-18.5016	7.6408	0.28292	0.0:0.2692:0.0:0.7308	.	774;1005;943;902	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	Q	902;943;1005;811;774	ENSP00000349398:E902Q;ENSP00000344055:E943Q;ENSP00000347416:E1005Q;ENSP00000342321:E774Q	ENSP00000341579:E811Q	E	-	1	0	AP3D1	2061868	0.995000	0.38212	0.998000	0.56505	0.045000	0.14185	0.336000	0.19823	-0.044000	0.13491	-0.339000	0.08088	GAG		0.622	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			5	29	0	0	0	0	5	29				
DDX39A	10212	broad.mit.edu	37	19	14520565	14520565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:14520565C>G	ENST00000242776.4	-	7	954	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	DDX39A_ENST00000592927.1_5'UTR|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	285	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGGTTAAACTCCAGCACATCC	0.562																																						uc010xnp.1		NA																	0					0						c.(853-855)GAG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39							81.0	73.0	76.0					19																	14520565		2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14520565C>G	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.853G>C	19.37:g.14520565C>G	ENSP00000242776:p.Glu285Gln					DDX39_uc002myo.2_Missense_Mutation_p.E285Q|DDX39_uc010dzl.2_RNA	p.E285Q	NM_005804	NP_005795	O00148	DX39A_HUMAN			7	898	-			285			Helicase C-terminal.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.853G>C	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963170	0.53507	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340	T;T	0.06142	3.53;3.34	5.11	5.11	0.69529	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	L	0.42686	1.345	0.80722	D	1	B	0.21688	0.059	B	0.22880	0.042	T	0.14282	-1.0478	10	0.42905	T	0.14	-39.4134	16.0084	0.80380	0.0:1.0:0.0:0.0	.	285	O00148	DX39A_HUMAN	Q	328;285;285	ENSP00000242776:E285Q;ENSP00000322749:E285Q	ENSP00000242776:E285Q	E	-	1	0	DDX39A	14381565	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.271000	0.78506	2.385000	0.81259	0.561000	0.74099	GAG		0.562	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		19	41	0	0	0	0	19	41				
HSH2D	84941	broad.mit.edu	37	19	16268177	16268177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:16268177C>T	ENST00000253680.6	+	8	1163	c.632C>T	c.(631-633)cCc>cTc	p.P211L	HSH2D_ENST00000588246.1_Missense_Mutation_p.P211L|HSH2D_ENST00000593154.2_Missense_Mutation_p.P211L|HSH2D_ENST00000397372.4_Missense_Mutation_p.P122L			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	211					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AAAATGCTCCCCGAGAGAGGC	0.562																																						uc002ndp.3		NA																	0					0						c.(631-633)CCC>CTC		hematopoietic SH2 domain containing							50.0	57.0	55.0					19																	16268177		1885	4098	5983	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268177C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.632C>T	19.37:g.16268177C>T	ENSP00000253680:p.Pro211Leu					HSH2D_uc002ndr.2_Missense_Mutation_p.P154L|HSH2D_uc010ead.2_RNA	p.P211L	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN			8	1163	+			211					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.632C>T		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050263	0.75846	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.70631	-0.5	3.81	3.81	0.43845	.	0.231102	0.30076	N	0.010466	T	0.79046	0.4380	L	0.55990	1.75	0.32476	N	0.542151	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82362	-0.0495	10	0.87932	D	0	.	11.493	0.50391	0.0:1.0:0.0:0.0	.	154;211	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	L	122;211	ENSP00000253680:P211L	ENSP00000253680:P211L	P	+	2	0	HSH2D	16129177	0.300000	0.24435	0.326000	0.25389	0.485000	0.33311	3.267000	0.51577	2.412000	0.81896	0.561000	0.74099	CCC		0.562	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		19	34	0	0	0	0	19	34				
RYR1	6261	broad.mit.edu	37	19	38943488	38943488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:38943488G>A	ENST00000359596.3	+	13	1274	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R425Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R425Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	425					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGAAGCCACGGGGCTCGGGG	0.662																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1273-1275)CGG>CAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						19.0	16.0	17.0					19																	38943488		2192	4294	6486	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38943488G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1274G>A	19.37:g.38943488G>A	ENSP00000352608:p.Arg425Gln					RYR1_uc002oiu.2_Missense_Mutation_p.R425Q	p.R425Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1404	+	all_cancers(60;7.91e-06)		425			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1274G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531310	0.64972	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96587	-4.06;-4.06;-4.06	4.47	3.37	0.38596	.	0.084546	0.45361	U	0.000361	D	0.94656	0.8277	L	0.53249	1.67	0.28240	N	0.925728	D;P	0.65815	0.995;0.908	P;B	0.51170	0.661;0.394	D	0.89099	0.3488	10	0.35671	T	0.21	.	6.6326	0.22865	0.1319:0.0:0.8681:0.0	.	425;425	P21817-2;P21817	.;RYR1_HUMAN	Q	425	ENSP00000352608:R425Q;ENSP00000347667:R425Q;ENSP00000354254:R425Q	ENSP00000347667:R425Q	R	+	2	0	RYR1	43635328	0.795000	0.28851	0.963000	0.40424	0.993000	0.82548	1.251000	0.32862	2.334000	0.79466	0.558000	0.71614	CGG		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	15	0	0	0	0	5	15				
GRIN2D	2906	broad.mit.edu	37	19	48917263	48917263	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:48917263C>T	ENST00000263269.3	+	4	1189	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCATGAACATCACGTGGGATA	0.587																																						uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(1099-1101)ATC>ATT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						107.0	84.0	92.0					19																	48917263		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48917263C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1101C>T	19.37:g.48917263C>T							p.I367I	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	4	1189	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	367			Extracellular (Potential).			Silent	SNP	ENST00000263269.3	37	c.1101C>T	CCDS12719.1																																																																																				0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			8	47	0	0	0	0	8	47				
ZNF347	84671	broad.mit.edu	37	19	53644215	53644215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:53644215C>A	ENST00000334197.7	-	5	1934	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	ZNF347_ENST00000601469.2_Missense_Mutation_p.E623D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.E623D	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	622					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.368																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(1864-1866)GAG>GAT		zinc finger protein 347							121.0	116.0	118.0					19																	53644215		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644215C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1866G>T	19.37:g.53644215C>A	ENSP00000334146:p.Glu622Asp					ZNF347_uc010eql.1_Missense_Mutation_p.E623D|ZNF347_uc002qbc.1_Missense_Mutation_p.E623D	p.E622D	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1935	-			622					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1866G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457203	0.43634	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.26810	1.71;1.71	3.01	3.01	0.34805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.49699	1.58	0.29024	N	0.886132	P;B	0.36909	0.573;0.298	B;B	0.32583	0.148;0.084	T	0.18461	-1.0336	9	0.66056	D	0.02	.	13.2379	0.59979	0.0:1.0:0.0:0.0	.	623;622	G5E9N4;Q96SE7	.;ZN347_HUMAN	D	622;623	ENSP00000334146:E622D;ENSP00000405218:E623D	ENSP00000334146:E622D	E	-	3	2	ZNF347	58336027	0.761000	0.28439	0.025000	0.17156	0.014000	0.08584	0.982000	0.29539	1.700000	0.51204	0.655000	0.94253	GAG		0.368	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		40	43	1	0	2.2e-31	5.41e-31	40	43				
ZNF524	147807	broad.mit.edu	37	19	56114117	56114117	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:56114117C>T	ENST00000591046.1	+	1	873	c.639C>T	c.(637-639)ctC>ctT	p.L213L	ZNF524_ENST00000301073.3_Silent_p.L213L|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAACACGCTCCGGCGCCATG	0.711																																						uc002qlk.1		NA																	0					0						c.(637-639)CTC>CTT		zinc finger protein 524							16.0	16.0	16.0					19																	56114117		2143	4207	6350	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56114117C>T	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.639C>T	19.37:g.56114117C>T						FIZ1_uc002qlj.3_5'Flank	p.L213L	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	722	+			213			C2H2-type 4.		Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.639C>T	CCDS12929.1																																																																																				0.711	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		18	9	0	0	0	0	18	9				
ZNF530	348327	broad.mit.edu	37	19	58118331	58118331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:58118331C>T	ENST00000332854.6	+	3	1658	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACCTCATTCGACACCAGAC	0.433																																						uc002qpk.2		NA																	0					0						c.(1438-1440)CGA>TGA		zinc finger protein 530							71.0	66.0	68.0					19																	58118331		2203	4300	6503	SO:0001587	stop_gained	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118331C>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1438C>T	19.37:g.58118331C>T	ENSP00000332861:p.Arg480*					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.R480*	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1658	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	480			C2H2-type 9.		O43340|Q9P220	Nonsense_Mutation	SNP	ENST00000332854.6	37	c.1438C>T	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162723	0.78226	.	.	ENSG00000183647	ENST00000332854	.	.	.	2.53	-5.05	0.02955	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	0.817	0.01104	0.4385:0.2083:0.1246:0.2286	.	.	.	.	X	480	.	ENSP00000332861:R480X	R	+	1	2	ZNF530	62810143	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.048000	0.00306	-0.949000	0.03663	0.609000	0.83330	CGA		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		29	28	0	0	0	0	29	28				
C2orf16	84226	broad.mit.edu	37	2	27804296	27804296	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804296G>A	ENST00000408964.2	+	1	4908	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCCCCGAGAGGAGCTGTC	0.562																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(4855-4857)GAG>GAA		hypothetical protein LOC84226							88.0	90.0	89.0					2																	27804296		1867	4105	5972	SO:0001819	synonymous_variant	84226							g.chr2:27804296G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4857G>A	2.37:g.27804296G>A						ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.E1619E	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	4908	+	Acute lymphoblastic leukemia(172;0.155)		1619			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.4857G>A	CCDS42666.1																																																																																				0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		32	71	0	0	0	0	32	71				
C2orf16	84226	broad.mit.edu	37	2	27804510	27804510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804510G>T	ENST00000408964.2	+	1	5122	c.5071G>T	c.(5071-5073)Gag>Tag	p.E1691*	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1691	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCTGAGAGAAGACA	0.577																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5071-5073)GAG>TAG		hypothetical protein LOC84226							153.0	155.0	154.0					2																	27804510		1915	4128	6043	SO:0001587	stop_gained	84226							g.chr2:27804510G>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5071G>T	2.37:g.27804510G>T	ENSP00000386190:p.Glu1691*					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.E1691*	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5122	+	Acute lymphoblastic leukemia(172;0.155)		1691			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|8.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Nonsense_Mutation	SNP	ENST00000408964.2	37	c.5071G>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	37	6.570465	0.97671	.	.	ENSG00000221843	ENST00000408964	.	.	.	3.26	-6.51	0.01878	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.9383	0.29944	0.1384:0.5792:0.1943:0.0881	.	.	.	.	X	1691	.	ENSP00000386190:E1691X	E	+	1	0	C2orf16	27658014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.641000	0.05434	-4.116000	0.00072	-3.520000	0.00032	GAG		0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		41	140	1	0	2.05e-20	4.94e-20	41	140				
WDR92	116143	broad.mit.edu	37	2	68365916	68365916	+	Silent	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68365916G>C	ENST00000295121.6	-	5	707	c.591C>G	c.(589-591)ctC>ctG	p.L197L	WDR92_ENST00000409164.1_Silent_p.L197L|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Silent_p.L96L	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	197					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CCATATTTCTGAGATCAAATA	0.383																																						uc002see.1		NA																	0					0						c.(589-591)CTC>CTG		monad							249.0	248.0	248.0					2																	68365916		2203	4300	6503	SO:0001819	synonymous_variant	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68365916G>C	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.591C>G	2.37:g.68365916G>C						WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Silent_p.L197L|WDR92_uc002seg.1_Silent_p.L96L	p.L197L	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN			5	672	-			197			WD 3.		Q96CR6	Silent	SNP	ENST00000295121.6	37	c.591C>G	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107921	0.20714	.	.	ENSG00000243667	ENST00000457114	.	.	.	6.03	-0.893	0.10567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3061	0.07001	0.1974:0.448:0.1856:0.169	.	.	.	.	X	1	.	.	S	-	2	0	WDR92	68219420	0.985000	0.35326	0.999000	0.59377	0.998000	0.95712	0.196000	0.17176	0.114000	0.18032	0.655000	0.94253	TCA		0.383	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		32	114	0	0	0	0	32	114				
PLEK	5341	broad.mit.edu	37	2	68615548	68615548	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68615548T>G	ENST00000234313.7	+	6	866	c.687T>G	c.(685-687)aaT>aaG	p.N229K		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	229					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTGAAGAGAATTCCAGTGATG	0.453																																						uc002sen.3		NA																	0				ovary(1)	1						c.(685-687)AAT>AAG		pleckstrin							138.0	138.0	138.0					2																	68615548		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68615548T>G	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.687T>G	2.37:g.68615548T>G	ENSP00000234313:p.Asn229Lys					PLEK_uc010fde.2_Missense_Mutation_p.N229K	p.N229K	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	6	849	+		Ovarian(717;0.0129)	229					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.687T>G	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.352998	0.41700	.	.	ENSG00000115956	ENST00000234313	T	0.18960	2.18	5.17	4.02	0.46733	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.050261	0.85682	D	0.000000	T	0.17534	0.0421	L	0.44542	1.39	0.50171	D	0.999859	P;P	0.39535	0.677;0.677	B;B	0.37989	0.262;0.194	T	0.02852	-1.1102	10	0.30078	T	0.28	.	10.0632	0.42288	0.0:0.0803:0.0:0.9197	.	247;229	Q59GZ2;P08567	.;PLEK_HUMAN	K	229	ENSP00000234313:N229K	ENSP00000234313:N229K	N	+	3	2	PLEK	68469052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.108000	0.41854	0.827000	0.34685	0.533000	0.62120	AAT		0.453	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		42	42	0	0	0	0	42	42				
SAP130	79595	broad.mit.edu	37	2	128712891	128712891	+	Silent	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:128712891C>A	ENST00000259235.3	-	15	2193	c.2064G>T	c.(2062-2064)gtG>gtT	p.V688V	SAP130_ENST00000259234.6_Silent_p.V696V|SAP130_ENST00000357702.5_Silent_p.V723V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	688					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCCATAGACACGTGGATTT	0.463																																						uc002tpp.2		NA																	0				ovary(2)|skin(2)	4						c.(2062-2064)GTG>GTT		Sin3A-associated protein, 130kDa isoform b							77.0	84.0	81.0					2																	128712891		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128712891C>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2064G>T	2.37:g.128712891C>A						SAP130_uc002tpn.2_Silent_p.V448V|SAP130_uc002tpo.2_Silent_p.V468V|SAP130_uc010fmd.2_Silent_p.V723V|SAP130_uc002tpq.1_Silent_p.V696V	p.V688V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	15	2196	-	Colorectal(110;0.1)		688					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.2064G>T	CCDS2153.1																																																																																				0.463	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		16	52	1	0	3.46e-05	7.57e-05	16	52				
SPOPL	339745	broad.mit.edu	37	2	139316665	139316665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:139316665G>T	ENST00000280098.4	+	6	933	c.554G>T	c.(553-555)cGt>cTt	p.R185L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCTGAGTGTCGTCTAGCAGAA	0.368																																						uc002tvh.2		NA																	0				skin(2)|breast(1)	3						c.(553-555)CGT>CTT		speckle-type POZ protein-like							100.0	108.0	105.0					2																	139316665		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316665G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.554G>T	2.37:g.139316665G>T	ENSP00000280098:p.Arg185Leu						p.R185L	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	954	+			185						Missense_Mutation	SNP	ENST00000280098.4	37	c.554G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089833	0.20390	.	.	ENSG00000144228	ENST00000280098	T	0.70749	-0.51	5.12	4.24	0.50183	BTB/POZ fold (2);	0.061516	0.64402	D	0.000002	T	0.63815	0.2543	L	0.57536	1.79	0.58432	D	0.999999	B	0.29212	0.237	B	0.18561	0.022	T	0.61013	-0.7148	9	.	.	.	-25.3795	13.8607	0.63559	0.0742:0.0:0.9258:0.0	.	185	Q6IQ16	SPOPL_HUMAN	L	185	ENSP00000280098:R185L	.	R	+	2	0	SPOPL	139033135	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	4.448000	0.60027	1.287000	0.44583	-0.229000	0.12294	CGT		0.368	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			29	55	1	0	1.25e-16	2.99e-16	29	55				
FIGN	55137	broad.mit.edu	37	2	164466892	164466892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:164466892C>G	ENST00000333129.3	-	3	1764	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	484					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCATTCCAGTCCACTGGAGGT	0.512																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1450-1452)GAC>CAC		fidgetin							129.0	121.0	124.0					2																	164466892		2041	4194	6235	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466892C>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1450G>C	2.37:g.164466892C>G	ENSP00000333836:p.Asp484His						p.D484H	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1761	-			484					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1450G>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	9.391	1.075598	0.20227	.	.	ENSG00000182263	ENST00000333129	D	0.94966	-3.57	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	N	0.12887	0.27	0.80722	D	1	B	0.16166	0.016	B	0.32149	0.141	D	0.84571	0.0655	10	0.10902	T	0.67	-23.0871	20.2723	0.98479	0.0:1.0:0.0:0.0	.	484	Q5HY92	FIGN_HUMAN	H	484	ENSP00000333836:D484H	ENSP00000333836:D484H	D	-	1	0	FIGN	164175138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.793000	0.96121	0.563000	0.77884	GAC		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		11	89	0	0	0	0	11	89				
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>CAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H	p.D29H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		9	36	0	0	0	0	9	36				
GULP1	51454	broad.mit.edu	37	2	189434754	189434754	+	Splice_Site	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189434754G>T	ENST00000409580.1	+	10	1230		c.e10-1		GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTCTTTTTAGATCCAAGACT	0.279																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2		NA																	0				ovary(1)	1						c.e9-1		GULP, engulfment adaptor PTB domain containing							37.0	41.0	40.0					2																	189434754		2160	4269	6429	SO:0001630	splice_region_variant	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189434754G>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.517-1G>T	2.37:g.189434754G>T						GULP1_uc002uqd.2_Splice_Site_p.I173_splice|GULP1_uc010zfw.1_Splice_Site_p.I70_splice|GULP1_uc002uqf.2_Splice_Site_p.I173_splice|GULP1_uc002uqg.2_Splice_Site_p.I173_splice|GULP1_uc002uqh.1_5'Flank	p.I173_splice	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		9	978	+								B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Splice_Site	SNP	ENST00000409580.1	37	c.517_splice	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491783	0.64074	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GULP1	189142999	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.149000	0.94659	2.890000	0.99128	0.650000	0.86243	.		0.279	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315	Intron	6	22	1	0	3.6e-05	7.85e-05	6	22				
COL3A1	1281	broad.mit.edu	37	2	189867029	189867029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189867029G>C	ENST00000304636.3	+	35	2567	c.2397G>C	c.(2395-2397)gaG>gaC	p.E799D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E799D	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	799	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTCAGGGTGAGAGAGGTGAAA	0.438																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2395-2397)GAG>GAC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						128.0	121.0	123.0					2																	189867029		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189867029G>C	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2397G>C	2.37:g.189867029G>C	ENSP00000304408:p.Glu799Asp						p.E799D	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		35	2514	+			799			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2397G>C	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	8.468	0.856791	0.17106	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95656	-3.77;-3.29	5.77	2.58	0.30949	.	0.000000	0.50627	D	0.000115	D	0.89136	0.6629	L	0.35487	1.065	0.39112	D	0.961483	B	0.14012	0.009	B	0.14578	0.011	T	0.80390	-0.1402	10	0.15066	T	0.55	.	6.1307	0.20203	0.3356:0.0:0.5373:0.1272	.	799	P02461	CO3A1_HUMAN	D	799	ENSP00000304408:E799D;ENSP00000315243:E799D	ENSP00000304408:E799D	E	+	3	2	COL3A1	189575274	0.693000	0.27728	1.000000	0.80357	0.941000	0.58515	-0.051000	0.11885	0.795000	0.33922	0.467000	0.42956	GAG		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		9	31	0	0	0	0	9	31				
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:204305768A>G	ENST00000319170.5	-	14	2444	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P	RAPH1_ENST00000374493.3_Silent_p.P767P|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	715					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622																																						uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2143-2145)CCT>CCC		Ras association and pleckstrin homology domains							15.0	20.0	18.0					2																	204305768		2144	4244	6388	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305768A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2145T>C	2.37:g.204305768A>G							p.P715P	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2370	-			715					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2145T>C	CCDS2359.1																																																																																				0.622	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		4	22	0	0	0	0	4	22				
ATIC	471	broad.mit.edu	37	2	216191665	216191665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:216191665C>A	ENST00000236959.9	+	7	978	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	ATIC_ENST00000435675.1_Missense_Mutation_p.Q217K|ATIC_ENST00000540518.1_Missense_Mutation_p.Q159K	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	218					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GACCCCTGCCCAGCTGTACAC	0.483			T	ALK	ALCL																																	uc002vex.3		NA		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(652-654)CAG>AAG		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						141.0	130.0	134.0					2																	216191665		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216191665C>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.652C>A	2.37:g.216191665C>A	ENSP00000236959:p.Gln218Lys					ATIC_uc010zjo.1_Missense_Mutation_p.Q159K|ATIC_uc002vey.3_Missense_Mutation_p.Q217K	p.Q218K	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	7	826	+		Renal(323;0.229)	218					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.652C>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394346	0.83011	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.86	4.98	0.66077	Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.52011	1.625	0.80722	D	1	P;P	0.51537	0.946;0.946	P;P	0.49252	0.604;0.604	T	0.76369	-0.2984	10	0.28530	T	0.3	0.2063	16.6304	0.85032	0.0:0.8697:0.1303:0.0	.	217;218	E9PBU3;P31939	.;PUR9_HUMAN	K	218;159;217;159	ENSP00000236959:Q218K;ENSP00000440523:Q159K;ENSP00000415935:Q217K;ENSP00000402393:Q159K	ENSP00000236959:Q218K	Q	+	1	0	ATIC	215899910	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.956000	0.70315	1.462000	0.47948	0.655000	0.94253	CAG		0.483	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		26	79	1	0	7.93e-12	1.88e-11	26	79				
HSPA12B	116835	broad.mit.edu	37	20	3726199	3726199	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:3726199G>A	ENST00000254963.2	+	6	658	c.513G>A	c.(511-513)gaG>gaA	p.E171E	HSPA12B_ENST00000542646.1_Silent_p.E5E	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	171							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGCCCTGGAGGTGTTCGCCC	0.637																																						uc002wjd.2		NA																	0					0						c.(511-513)GAG>GAA		heat shock 70kD protein 12B							82.0	77.0	79.0					20																	3726199		2203	4300	6503	SO:0001819	synonymous_variant	116835						ATP binding	g.chr20:3726199G>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.513G>A	20.37:g.3726199G>A						HSPA12B_uc010zqi.1_Silent_p.E171E|HSPA12B_uc002wje.2_Silent_p.E84E|HSPA12B_uc010zqj.1_Silent_p.E5E	p.E171E	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			6	616	+			171					D3DVX7|Q2TAK3|Q9BR52	Silent	SNP	ENST00000254963.2	37	c.513G>A	CCDS13061.1																																																																																				0.637	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		12	51	0	0	0	0	12	51				
CBFA2T2	9139	broad.mit.edu	37	20	32217677	32217677	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:32217677C>T	ENST00000346541.3	+	9	1749	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.V414V|CBFA2T2_ENST00000397800.1_Silent_p.V375V|CBFA2T2_ENST00000492345.1_Silent_p.V375V|CBFA2T2_ENST00000375279.2_Silent_p.V404V|CBFA2T2_ENST00000342704.6_Silent_p.V395V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	404					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGAGTTGGTCTCCAGGCAGC	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	0				pancreas(1)|skin(1)	2						c.(1210-1212)GTC>GTT		core-binding factor, runt domain, alpha subunit							60.0	57.0	58.0					20																	32217677		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32217677C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1212C>T	20.37:g.32217677C>T						CBFA2T2_uc010zug.1_Silent_p.V178V|CBFA2T2_uc002wze.1_Silent_p.V395V|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.V375V|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.V404V	NM_005093	NP_005084	O43439	MTG8R_HUMAN			9	1749	+			404					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.1212C>T	CCDS13221.1																																																																																				0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		22	27	0	0	0	0	22	27				
PTPRT	11122	broad.mit.edu	37	20	40757407	40757407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:40757407G>A	ENST00000373187.1	-	19	2833	c.2834C>T	c.(2833-2835)gCc>gTc	p.A945V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A935V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A944V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A964V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A948V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A954V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A935V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	945	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AATGTAGTTGGCATTGATGTA	0.542																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(2833-2835)GCC>GTC		protein tyrosine phosphatase, receptor type, T							80.0	90.0	87.0					20																	40757407		2059	4202	6261	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40757407G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2834C>T	20.37:g.40757407G>A	ENSP00000362283:p.Ala945Val					PTPRT_uc010ggj.2_Missense_Mutation_p.A964V|PTPRT_uc010ggi.2_Missense_Mutation_p.A148V	p.A945V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			19	3018	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	945			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2834C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104918	0.56291	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.31	4.36	0.52297	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.69307	0.908;0.963	D	0.93153	0.6551	10	0.87932	D	0	.	12.3724	0.55261	0.0:0.1697:0.8303:0.0	.	967;945	O14522-1;O14522	.;PTPRT_HUMAN	V	944;945;948;954;967;935;935	ENSP00000362286:A944V;ENSP00000362283:A945V;ENSP00000362289:A948V;ENSP00000348408:A954V;ENSP00000362294:A967V;ENSP00000362280:A935V;ENSP00000362297:A935V	ENSP00000348408:A954V	A	-	2	0	PTPRT	40190821	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	7.295000	0.78780	1.364000	0.46038	-0.165000	0.13383	GCC		0.542	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			6	64	0	0	0	0	6	64				
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	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)	p.E457K(1)		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						TCAAAGATCTCGAAGCCGGCA	0.572			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		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		1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1369-1371)GAG>AAG		myosin, heavy polypeptide 9, non-muscle							117.0	118.0	118.0					22																	36712573		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.chr22:36712573C>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.1369G>A	22.37:g.36712573C>T	ENSP00000216181:p.Glu457Lys					MYH9_uc003aph.1_Missense_Mutation_p.E321K	p.E457K	NM_002473	NP_002464	P35579	MYH9_HUMAN			12	1600	-			457			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1369G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666090	0.96745	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80480	-1.38	5.1	5.1	0.69264	Myosin head, motor domain (3);	0.052482	0.85682	D	0.000000	D	0.95105	0.8414	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.97810	1.0250	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	457	P35579	MYH9_HUMAN	K	321;457	ENSP00000216181:E457K	ENSP00000216181:E457K	E	-	1	0	MYH9	35042519	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.796000	0.85898	2.538000	0.85594	0.585000	0.79938	GAG		0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		34	86	0	0	0	0	34	86				
PTH1R	5745	broad.mit.edu	37	3	46937299	46937299	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:46937299G>T	ENST00000313049.5	+	3	456	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000418619.1_Missense_Mutation_p.G85W|PTH1R_ENST00000449590.1_Missense_Mutation_p.G85W|PTH1R_ENST00000430002.2_Missense_Mutation_p.G85W			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	85					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TAAGGCATCTGGGAAGCTCTA	0.552											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqm.2		NA																	0				breast(1)	1						c.(253-255)GGG>TGG		parathyroid hormone receptor 1 precursor							148.0	109.0	122.0					3																	46937299		2203	4300	6503	SO:0001583	missense	5745	Ollier_disease_/_Maffuci_syndrome				cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46937299G>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.253G>T	3.37:g.46937299G>T	ENSP00000321999:p.Gly85Trp		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	PTH1R_uc003cqn.2_Missense_Mutation_p.G85W	p.G85W	NM_000316	NP_000307	Q03431	PTH1R_HUMAN			5	456	+			85			Extracellular (Potential).		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.253G>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237320	0.39498	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.51071	0.72;0.72;0.73;0.72;0.72	4.75	3.86	0.44501	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.32466	0.0830	N	0.22421	0.69	0.19775	N	0.999954	P	0.35527	0.507	B	0.30943	0.122	T	0.17961	-1.0352	9	0.66056	D	0.02	.	10.6289	0.45523	0.0:0.1943:0.8056:0.0	.	85	Q03431	PTH1R_HUMAN	W	85;85;85;85;85;257	ENSP00000402723:G85W;ENSP00000411424:G85W;ENSP00000400977:G85W;ENSP00000413774:G85W;ENSP00000321999:G85W	ENSP00000321999:G85W	G	+	1	0	PTH1R	46912303	0.819000	0.29175	0.529000	0.27951	0.974000	0.67602	2.021000	0.41020	1.203000	0.43233	0.561000	0.74099	GGG		0.552	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		9	26	1	0	2.18e-05	4.78e-05	9	26				
NICN1	84276	broad.mit.edu	37	3	49466588	49466588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:49466588C>T	ENST00000273598.3	-	1	171	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.G29S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	29						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGCACGCCAGGCCGGCCT	0.682																																						uc003cwz.1		NA																	0					0						c.(85-87)GGC>AGC		nicolin 1							35.0	33.0	34.0					3																	49466588		2202	4300	6502	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49466588C>T	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.85G>A	3.37:g.49466588C>T	ENSP00000273598:p.Gly29Ser					NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.G29S	p.G29S	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	170	-			29					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.85G>A	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947123	0.97134	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.24538	1.85;1.85	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.68593	2.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.50931	-0.8769	10	0.87932	D	0	-15.9461	17.1775	0.86845	0.0:1.0:0.0:0.0	.	29;29	B4DX77;Q9BSH3	.;NICN1_HUMAN	S	29	ENSP00000273598:G29S;ENSP00000402335:G29S	ENSP00000273598:G29S	G	-	1	0	NICN1	49441592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.136000	0.64783	2.661000	0.90470	0.655000	0.94253	GGC		0.682	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		10	18	0	0	0	0	10	18				
FAM208A	23272	broad.mit.edu	37	3	56675420	56675420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:56675420G>C	ENST00000493960.2	-	15	2586	c.2576C>G	c.(2575-2577)tCt>tGt	p.S859C	FAM208A_ENST00000355628.5_Missense_Mutation_p.S859C|FAM208A_ENST00000431842.2_Missense_Mutation_p.S463C	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	859							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTCGCTGGTAGAAATAGCAAC	0.403																																						uc003did.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2575-2577)TCT>TGT		retinoblastoma-associated protein 140 isoform b							103.0	96.0	99.0					3																	56675420		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56675420G>C	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2576C>G	3.37:g.56675420G>C	ENSP00000417509:p.Ser859Cys					C3orf63_uc003dic.3_Missense_Mutation_p.S463C|C3orf63_uc003die.3_Missense_Mutation_p.S859C	p.S859C	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	15	2677	-			859					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2576C>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	4.292	0.053392	0.08291	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.14144	2.53;2.71;2.64	5.99	3.11	0.35812	.	0.561292	0.18633	N	0.135526	T	0.24928	0.0605	L	0.42245	1.32	0.09310	N	1	B;D;B	0.67145	0.019;0.996;0.007	B;P;B	0.59288	0.022;0.855;0.018	T	0.08994	-1.0695	10	0.40728	T	0.16	-0.0828	15.143	0.72626	0.0:0.4409:0.5591:0.0	.	859;859;463	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	C	463;859;859	ENSP00000399410:S463C;ENSP00000417509:S859C;ENSP00000347845:S859C	ENSP00000347845:S859C	S	-	2	0	C3orf63	56650460	0.979000	0.34478	0.529000	0.27951	0.061000	0.15899	3.377000	0.52425	0.358000	0.24211	0.655000	0.94253	TCT		0.403	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		5	18	0	0	0	0	5	18				
PARP15	165631	broad.mit.edu	37	3	122340298	122340298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:122340298G>T	ENST00000464300.2	+	8	1137	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	PARP15_ENST00000493645.1_Missense_Mutation_p.Q123H|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.Q123H|PARP15_ENST00000483793.1_Missense_Mutation_p.Q231H	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	357	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTGCACAGCCTCACAGAG	0.393																																						uc003efm.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1069-1071)CAG>CAT		poly (ADP-ribose) polymerase family, member 15							62.0	64.0	63.0					3																	122340298		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340298G>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1071G>T	3.37:g.122340298G>T	ENSP00000417214:p.Gln357His					PARP15_uc003efn.2_Missense_Mutation_p.Q231H|PARP15_uc003efo.1_Missense_Mutation_p.Q104H|PARP15_uc003efp.1_Missense_Mutation_p.Q123H|PARP15_uc011bjt.1_Missense_Mutation_p.Q123H	p.Q357H	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1137	+			335			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1071G>T	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696298	0.48202	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.22539	1.95;1.97;1.95;1.95	4.01	3.13	0.36017	Appr-1-p processing (3);	0.000000	0.33290	N	0.005077	T	0.42562	0.1208	M	0.84948	2.725	0.09310	N	1	D;P;B;D;D	0.71674	0.998;0.912;0.143;0.992;0.989	P;B;B;P;P	0.61477	0.889;0.431;0.062;0.887;0.69	T	0.24440	-1.0160	10	0.42905	T	0.14	.	9.4923	0.38967	0.1062:0.0:0.8938:0.0	.	123;123;104;231;335	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	H	357;231;104;123;123	ENSP00000417214:Q357H;ENSP00000417785:Q231H;ENSP00000308436:Q123H;ENSP00000419488:Q123H	ENSP00000308436:Q123H	Q	+	3	2	PARP15	123822988	0.024000	0.19004	0.113000	0.21522	0.260000	0.26232	0.761000	0.26489	1.044000	0.40200	0.655000	0.94253	CAG		0.393	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		38	22	1	0	1.85e-21	4.48e-21	38	22				
NME9	347736	broad.mit.edu	37	3	138023770	138023770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:138023770G>A	ENST00000333911.3	-	9	763	c.736C>T	c.(736-738)Cga>Tga	p.R246*	NME9_ENST00000536478.1_Nonsense_Mutation_p.R185*|NME9_ENST00000341790.5_Nonsense_Mutation_p.R183*|NME9_ENST00000484930.1_Nonsense_Mutation_p.R183*|NME9_ENST00000317876.4_Nonsense_Mutation_p.R185*|NME9_ENST00000383180.2_Nonsense_Mutation_p.R185*			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	246	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ATGACGGTTCGCCAGGTAGTG	0.572																																						uc003esg.2		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(736-738)CGA>TGA		thioredoxin domain containing 6							161.0	141.0	148.0					3																	138023770		2203	4300	6503	SO:0001587	stop_gained	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138023770G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.736C>T	3.37:g.138023770G>A	ENSP00000335444:p.Arg246*					TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Nonsense_Mutation_p.R161*|TXNDC6_uc003ese.1_Nonsense_Mutation_p.R185*	p.R246*	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			9	764	-			246			NDK.		Q7Z4A8|Q8N1V7	Nonsense_Mutation	SNP	ENST00000333911.3	37	c.736C>T		.	.	.	.	.	.	.	.	.	.	G	12.22	1.871930	0.33069	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	.	.	.	5.44	-1.56	0.08532	.	0.253997	0.39909	N	0.001231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4673	8.1033	0.30870	0.1115:0.0:0.1837:0.7047	.	.	.	.	X	185;185;183;183;185;246	.	ENSP00000321929:R185X	R	-	1	2	TXNDC6	139506460	0.552000	0.26505	0.073000	0.20177	0.046000	0.14306	0.827000	0.27421	-0.145000	0.11294	0.591000	0.81541	CGA		0.572	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		30	170	0	0	0	0	30	170				
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:161221279G>A	ENST00000327928.4	+	4	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	328	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572																																						uc011bpb.1		NA																	0					0						c.(982-984)CGG>CAG		otolin-1 precursor							30.0	30.0	30.0					3																	161221279		1852	4094	5946	SO:0001583	missense	131149					collagen		g.chr3:161221279G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.983G>A	3.37:g.161221279G>A	ENSP00000330808:p.Arg328Gln						p.R328Q	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	983	+			328			Collagen-like 3.			Missense_Mutation	SNP	ENST00000327928.4	37	c.983G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854914	0.71719	.	.	ENSG00000182447	ENST00000327928	D	0.94184	-3.37	5.23	5.23	0.72850	.	0.059210	0.64402	D	0.000003	D	0.92541	0.7631	L	0.31804	0.96	0.43076	D	0.994728	D	0.76494	0.999	D	0.63192	0.912	D	0.90409	0.4408	10	0.26408	T	0.33	.	10.953	0.47341	0.086:0.0:0.914:0.0	.	328	A6NHN0	OTOL1_HUMAN	Q	328	ENSP00000330808:R328Q	ENSP00000330808:R328Q	R	+	2	0	OTOL1	162703973	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	4.013000	0.57138	2.427000	0.82271	0.557000	0.71058	CGG		0.572	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		4	27	0	0	0	0	4	27				
PPEF2	5470	broad.mit.edu	37	4	76811247	76811247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:76811247C>T	ENST00000286719.7	-	5	636	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	94					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGTCCTGGGCGAATCTGTCC	0.522																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(280-282)GCC>ACC		serine/threonine protein phosphatase with							197.0	177.0	184.0					4																	76811247		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811247C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.280G>A	4.37:g.76811247C>T	ENSP00000286719:p.Ala94Thr					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.A94T	p.A94T	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	637	-			94					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.280G>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	c	0.812	-0.751649	0.03041	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54071	0.59	5.07	-0.154	0.13399	.	2.858280	0.00851	N	0.001833	T	0.31827	0.0809	N	0.22421	0.69	0.09310	N	1	P;B	0.38167	0.621;0.192	B;B	0.32393	0.145;0.01	T	0.08186	-1.0734	10	0.18276	T	0.48	-9.7513	2.0395	0.03547	0.1551:0.3778:0.223:0.2442	.	94;94	O14830-2;O14830	.;PPE2_HUMAN	T	94	ENSP00000286719:A94T	ENSP00000286719:A94T	A	-	1	0	PPEF2	77030271	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.075000	0.30716	-0.294000	0.08973	-3.157000	0.00058	GCC		0.522	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		35	38	0	0	0	0	35	38				
PDHA2	5161	broad.mit.edu	37	4	96761704	96761704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:96761704G>C	ENST00000295266.4	+	1	466	c.403G>C	c.(403-405)Gag>Cag	p.E135Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	135					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CATTCTCGCAGAGCTGACGGG	0.512																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(403-405)GAG>CAG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						100.0	91.0	94.0					4																	96761704		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761704G>C		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.403G>C	4.37:g.96761704G>C	ENSP00000295266:p.Glu135Gln						p.E135Q	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	466	+		Hepatocellular(203;0.114)	135					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.403G>C	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104072	0.56291	.	.	ENSG00000163114	ENST00000295266	D	0.97941	-4.62	4.77	4.77	0.60923	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99236	1.0883	10	0.87932	D	0	-6.7932	15.6906	0.77450	0.0:0.0:1.0:0.0	.	135	P29803	ODPAT_HUMAN	Q	135	ENSP00000295266:E135Q	ENSP00000295266:E135Q	E	+	1	0	PDHA2	96980727	1.000000	0.71417	0.719000	0.30619	0.135000	0.20990	8.834000	0.92094	2.646000	0.89796	0.467000	0.42956	GAG		0.512	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			41	37	0	0	0	0	41	37				
CCRN4L	25819	broad.mit.edu	37	4	139965958	139965958	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:139965958G>C	ENST00000280614.2	+	3	819	c.626G>C	c.(625-627)aGa>aCa	p.R209T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	209					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTCCTCAGTAGACTAGGCTAT	0.458																																					Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.2		NA																	0				ovary(1)	1						c.(625-627)AGA>ACA		CCR4 carbon catabolite repression 4-like							129.0	112.0	118.0					4																	139965958		2203	4300	6503	SO:0001583	missense	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139965958G>C	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.626G>C	4.37:g.139965958G>C	ENSP00000280614:p.Arg209Thr						p.R209T	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN			3	819	+	all_hematologic(180;0.162)		209					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	c.626G>C	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954498	0.34471	.	.	ENSG00000151014	ENST00000280614	T	0.79940	-1.32	5.5	5.5	0.81552	Endonuclease/exonuclease/phosphatase (2);	0.092020	0.64402	D	0.000001	T	0.69771	0.3148	N	0.16833	0.445	0.80722	D	1	B	0.21071	0.051	B	0.22880	0.042	T	0.63756	-0.6565	9	.	.	.	-16.9346	19.3911	0.94583	0.0:0.0:1.0:0.0	.	209	Q9UK39	NOCT_HUMAN	T	209	ENSP00000280614:R209T	.	R	+	2	0	CCRN4L	140185408	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	6.734000	0.74801	2.600000	0.87896	0.555000	0.69702	AGA		0.458	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		16	77	0	0	0	0	16	77				
TKTL2	84076	broad.mit.edu	37	4	164394488	164394488	+	Silent	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:164394488T>A	ENST00000280605.3	-	1	559	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	133						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATTCCACATGCAGTACCTA	0.547																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(397-399)GCA>GCT		transketolase-like 2							115.0	110.0	112.0					4																	164394488		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394488T>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.399A>T	4.37:g.164394488T>A							p.A133A	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	560	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	133					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.399A>T	CCDS3805.1																																																																																				0.547	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		20	65	0	0	0	0	20	65				
TTC33	23548	broad.mit.edu	37	5	40716573	40716573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:40716573G>A	ENST00000337702.4	-	5	615	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	155										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGATAGATGTGAAGGGCTACT	0.373																																						uc003jma.2		NA																	0				ovary(1)	1						c.(463-465)CAC>TAC		tetratricopeptide repeat domain 33							115.0	117.0	117.0					5																	40716573		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716573G>A	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.463C>T	5.37:g.40716573G>A	ENSP00000338533:p.His155Tyr					TTC33_uc011cpm.1_Missense_Mutation_p.H47Y|TTC33_uc010ivg.2_3'UTR	p.H155Y	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			5	611	-			155			TPR 3.		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.463C>T	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480073	0.84747	.	.	ENSG00000113638	ENST00000337702	T	0.73789	-0.78	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	D	0.85173	0.0999	10	0.66056	D	0.02	-15.1708	20.0506	0.97625	0.0:0.0:1.0:0.0	.	155	Q6PID6	TTC33_HUMAN	Y	155	ENSP00000338533:H155Y	ENSP00000338533:H155Y	H	-	1	0	TTC33	40752330	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.914000	0.87478	2.729000	0.93468	0.650000	0.86243	CAC		0.373	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		20	73	0	0	0	0	20	73				
DHFR	1719	broad.mit.edu	37	5	79929781	79929781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:79929781G>T	ENST00000439211.2	-	5	893	c.400C>A	c.(400-402)Cta>Ata	p.L134I	CTC-325J23.2_ENST00000514201.1_RNA|DHFR_ENST00000505337.1_Missense_Mutation_p.L134I|DHFR_ENST00000504396.1_Missense_Mutation_p.L82I|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Intron	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTCACAAATAGTTTAAGATGG	0.328																																						uc003kgy.1		NA																	0					0						c.(400-402)CTA>ATA		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						83.0	86.0	85.0					5																	79929781		2159	4290	6449	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79929781G>T		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.400C>A	5.37:g.79929781G>T	ENSP00000396308:p.Leu134Ile					DHFR_uc011ctl.1_Intron|DHFR_uc011ctm.1_Missense_Mutation_p.L82I|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Missense_Mutation_p.L283I	p.L134I	NM_000791	NP_000782	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	5	892	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	134			DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.400C>A	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363930	0.41902	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000504396	T;T;T	0.74947	-0.89;-0.89;-0.89	5.72	3.95	0.45737	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.74642	0.3743	L	0.39467	1.215	0.26321	N	0.977676	B;B	0.22276	0.067;0.067	P;P	0.45310	0.476;0.476	T	0.66646	-0.5871	8	.	.	.	-6.3913	8.89	0.35427	0.2305:0.0:0.7695:0.0	.	134;134	P00374;B0YJ76	DYR_HUMAN;.	I	134;134;82	ENSP00000396308:L134I;ENSP00000426474:L134I;ENSP00000421334:L82I	.	L	-	1	2	DHFR	79965537	1.000000	0.71417	0.345000	0.25642	0.990000	0.78478	2.150000	0.42254	0.797000	0.33971	0.585000	0.79938	CTA		0.328	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		13	32	1	0	2e-07	4.58e-07	13	32				
ACOT12	134526	broad.mit.edu	37	5	80667608	80667608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:80667608G>C	ENST00000307624.3	-	3	247	c.219C>G	c.(217-219)atC>atG	p.I73M	ACOT12_ENST00000513751.1_Missense_Mutation_p.I73M	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	73	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTGCTTTGATGGTTATAA	0.363																																						uc003khl.3		NA																	0				ovary(1)|kidney(1)	2						c.(217-219)ATC>ATG		acyl-CoA thioesterase 12							185.0	155.0	165.0					5																	80667608		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80667608G>C	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.219C>G	5.37:g.80667608G>C	ENSP00000303246:p.Ile73Met					RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.I73M	p.I73M	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	3	274	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	73			Acyl coenzyme A hydrolase 1.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.219C>G	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780589	0.49891	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.53249	1.67	0.49483	D	0.999797	D;D	0.89917	0.996;1.0	D;D	0.83275	0.996;0.995	T	0.17289	-1.0374	10	0.46703	T	0.11	-29.327	10.978	0.47478	0.0843:0.0:0.9157:0.0	.	73;73	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	M	73	ENSP00000303246:I73M;ENSP00000421628:I73M	ENSP00000303246:I73M	I	-	3	3	ACOT12	80703364	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	3.572000	0.53849	2.758000	0.94735	0.563000	0.77884	ATC		0.363	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		18	44	0	0	0	0	18	44				
MGAT4B	11282	broad.mit.edu	37	5	179226007	179226007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:179226007C>T	ENST00000292591.7	-	11	1614	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	MGAT4B_ENST00000337755.5_Missense_Mutation_p.E437K|MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	422					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTCGCGCAGGTAG	0.607																																					GBM(13;414 434 4098 22176 23230)	uc003mks.2		NA																	0					0						c.(1264-1266)GAG>AAG		alpha-1,3-mannosyl-glycoprotein							142.0	134.0	137.0					5																	179226007		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179226007C>T	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1264G>A	5.37:g.179226007C>T	ENSP00000292591:p.Glu422Lys					MGAT4B_uc003mkp.2_Missense_Mutation_p.E276K|MGAT4B_uc003mkq.2_Missense_Mutation_p.R197Q|MGAT4B_uc003mkr.2_Missense_Mutation_p.E437K|MIR1229_hsa-mir-1229|MI0006319_5'Flank	p.E422K	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1633	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	422			Lumenal (Potential).		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.1264G>A	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.23|17.23	3.336111|3.336111	0.60963|0.60963	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591;ENST00000519836|ENST00000518778;ENST00000520875	T;T|T;T	0.34667|0.28895	1.35;1.36|1.59;1.59	4.17|4.17	4.17|4.17	0.49024|0.49024	.|.	0.058255|.	0.64402|.	N|.	0.000002|.	T|T	0.47432|0.47432	0.1445|0.1445	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;P;D|.	0.76494|.	0.892;0.913;0.999|.	B;B;D|.	0.74023|.	0.212;0.212;0.982|.	T|T	0.52177|0.52177	-0.8610|-0.8610	10|7	0.59425|0.72032	D|D	0.04|0.01	-46.116|-46.116	16.6962|16.6962	0.85336|0.85336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	422;437;421|.	Q9UQ53;A8MPR0;Q9UQ53-2|.	MGT4B_HUMAN;.;.|.	K|Q	437;422;290|246;202	ENSP00000338487:E437K;ENSP00000292591:E422K|ENSP00000428906:R246Q;ENSP00000430723:R202Q	ENSP00000292591:E422K|ENSP00000428906:R246Q	E|R	-|-	1|2	0|0	MGAT4B|MGAT4B	179158613|179158613	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.986000|0.986000	0.74619|0.74619	5.784000|5.784000	0.68990|0.68990	2.161000|2.161000	0.67846|0.67846	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.607	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		54	76	0	0	0	0	54	76				
FAM136BP	387071	broad.mit.edu	37	6	3045941	3045941	+	IGR	SNP	C	C	T	rs576793102	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:3045941C>T								RP1-90J20.11 (18282 upstream) : RP1-40E16.2 (10182 downstream)																							AGCAGCTGGACGGTTGTGTGA	0.483													C|||	54	0.0107827	0.0113	0.0058	5008	,	,		21651	0.0139		0.0109	False		,,,				2504	0.0102					uc011dhr.1		NA																	0					0						c.(322-324)GAC>GAT		hypothetical protein LOC387071							77.0	59.0	64.0					6																	3045941		692	1591	2283	SO:0001628	intergenic_variant	387071							g.chr6:3045941C>T																													6.37:g.3045941C>T							p.D108D	NM_001012983	NP_001013001					1	324	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)							Silent	SNP		37	c.324C>T																																																																																				0	0.483									5	86	0	0	0	0	5	86				
FAM136BP	387071	broad.mit.edu	37	6	3045944	3045944	+	IGR	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:3045944T>C								RP1-90J20.11 (18285 upstream) : RP1-40E16.2 (10179 downstream)																							AGCTGGACGGTTGTGTGACCA	0.483																																						uc011dhr.1		NA																	0					0						c.(325-327)GGT>GGC		hypothetical protein LOC387071							84.0	63.0	69.0					6																	3045944		692	1591	2283	SO:0001628	intergenic_variant	387071							g.chr6:3045944T>C																													6.37:g.3045944T>C							p.G109G	NM_001012983	NP_001013001					1	327	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)							Silent	SNP		37	c.327T>C																																																																																				0	0.483									5	85	0	0	0	0	5	85				
HIST1H2AE	3012	broad.mit.edu	37	6	26217479	26217479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:26217479G>A	ENST00000303910.2	+	1	315	c.277G>A	c.(277-279)Gag>Aag	p.E93K	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CAACGACGAGGAGCTAAATAA	0.592																																						uc003nha.1		NA																	0				ovary(1)|skin(1)	2						c.(277-279)GAG>AAG		histone cluster 1, H2ae							80.0	79.0	79.0					6																	26217479		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217479G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.277G>A	6.37:g.26217479G>A	ENSP00000303373:p.Glu93Lys					HIST1H2BG_uc003ngz.2_5'Flank	p.E93K	NM_021052	NP_066390	P04908	H2A1B_HUMAN			1	332	+		all_hematologic(11;0.196)	93					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.277G>A	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	16.74	3.205513	0.58234	.	.	ENSG00000168274	ENST00000303910	T	0.51325	0.71	4.07	4.07	0.47477	.	0.000000	0.34314	U	0.004071	T	0.67211	0.2869	M	0.89601	3.045	0.51482	D	0.999922	.	.	.	.	.	.	T	0.76405	-0.2971	8	0.87932	D	0	.	15.7762	0.78220	0.0:0.0:1.0:0.0	.	.	.	.	K	93	ENSP00000303373:E93K	ENSP00000303373:E93K	E	+	1	0	HIST1H2AE	26325458	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	9.146000	0.94640	2.263000	0.75096	0.650000	0.86243	GAG		0.592	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		19	76	0	0	0	0	19	76				
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348																																						uc003nky.2		NA																	0				ovary(4)	4						c.(1234-1236)CTC>CTG		piggyBac transposable element derived 1							70.0	76.0	74.0					6																	28268867		2199	4297	6496	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268867C>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1236C>G	6.37:g.28268867C>G						PGBD1_uc003nkz.2_Silent_p.L412L	p.L412L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1606	+			412					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1236C>G	CCDS4648.1																																																																																				0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			15	67	0	0	0	0	15	67				
RNF8	9025	broad.mit.edu	37	6	37344797	37344797	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:37344797A>G	ENST00000373479.4	+	6	1417	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E	RNF8_ENST00000469731.1_Silent_p.E408E	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	408					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGTTCAGAATACTTCATTG	0.368																																						uc003onq.3		NA																	0				ovary(1)	1						c.(1222-1224)GAA>GAG		ring finger protein 8 isoform 1							158.0	145.0	149.0					6																	37344797		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37344797A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1224A>G	6.37:g.37344797A>G						RNF8_uc003onr.3_Silent_p.E408E|RNF8_uc011dtx.1_Silent_p.E340E	p.E408E	NM_003958	NP_003949	O76064	RNF8_HUMAN			6	1417	+			408			RING-type.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.1224A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	8.894	0.954657	0.18431	.	.	ENSG00000112130	ENST00000498460	.	.	.	5.69	-0.675	0.11364	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	.	6.259	0.20889	0.3468:0.0:0.5008:0.1525	.	.	.	.	V	168	.	.	I	+	1	0	RNF8	37452775	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.415000	0.34748	-0.029000	0.13827	0.528000	0.53228	ATA		0.368	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			7	9	0	0	0	0	7	9				
EPHA7	2045	broad.mit.edu	37	6	94120657	94120657	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:94120657A>T	ENST00000369303.4	-	3	578	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	EPHA7_ENST00000369297.1_Missense_Mutation_p.Y132N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAGTGTCATAGTCTGTTTCA	0.368																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(394-396)TAT>AAT		ephrin receptor EphA7 precursor							126.0	130.0	129.0					6																	94120657		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120657A>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.394T>A	6.37:g.94120657A>T	ENSP00000358309:p.Tyr132Asn					EPHA7_uc003pof.2_Missense_Mutation_p.Y132N|EPHA7_uc011eac.1_Missense_Mutation_p.Y132N|EPHA7_uc003pog.3_Missense_Mutation_p.Y132N	p.Y132N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	635	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	132			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.394T>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	9.552	1.116227	0.20795	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03358	3.96;3.96	5.47	5.47	0.80525	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.198812	0.45126	D	0.000393	T	0.01092	0.0036	N	0.05280	-0.08	0.49299	D	0.999777	B;B;B;B	0.22909	0.02;0.059;0.063;0.077	B;B;B;B	0.28784	0.017;0.094;0.034;0.053	T	0.58875	-0.7559	10	0.22706	T	0.39	.	15.888	0.79269	1.0:0.0:0.0:0.0	.	132;132;132;132	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	132	ENSP00000358309:Y132N;ENSP00000358303:Y132N	ENSP00000358303:Y132N	Y	-	1	0	EPHA7	94177378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.905000	0.69893	2.216000	0.71823	0.529000	0.55759	TAT		0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			33	46	0	0	0	0	33	46				
TBC1D32	221322	broad.mit.edu	37	6	121563420	121563420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:121563420A>T	ENST00000398212.2	-	18	2133	c.2084T>A	c.(2083-2085)cTa>cAa	p.L695Q	TBC1D32_ENST00000275159.6_Missense_Mutation_p.L695Q	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	695					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTGAAGAAGTAGTAATCCTTT	0.343																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2083-2085)CTA>CAA		hypothetical protein LOC221322							103.0	98.0	100.0					6																	121563420		1837	4090	5927	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121563420A>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2084T>A	6.37:g.121563420A>T	ENSP00000381270:p.Leu695Gln					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.L214Q	p.L695Q	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	18	2152	-			695					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2084T>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.612802	0.66672	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28454	1.61;1.61	5.0	3.82	0.43975	.	0.089102	0.47455	D	0.000225	T	0.40815	0.1132	M	0.70275	2.135	0.40172	D	0.977194	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.822	T	0.36261	-0.9755	10	0.49607	T	0.09	.	11.1349	0.48368	0.8616:0.0:0.0:0.1384	.	695;695	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	Q	695	ENSP00000275159:L695Q;ENSP00000381270:L695Q	ENSP00000275159:L695Q	L	-	2	0	C6orf170	121605119	0.986000	0.35501	0.922000	0.36590	0.957000	0.61999	5.237000	0.65360	0.848000	0.35191	0.477000	0.44152	CTA		0.343	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		16	49	0	0	0	0	16	49				
LAMA2	3908	broad.mit.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:129475657T>A	ENST00000421865.2	+	8	1084	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1033-1035)AAT>AAA		laminin alpha 2 subunit isoform a precursor							62.0	64.0	63.0					6																	129475657		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129475657T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1035T>A	6.37:g.129475657T>A	ENSP00000400365:p.Asn345Lys					LAMA2_uc003qbo.2_Missense_Mutation_p.N345K	p.N345K	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	8	1140	+			345			Laminin EGF-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1035T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788231	0.70337	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61274	0.12	6.06	4.91	0.64330	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.75777	2.31	0.48762	D	0.999706	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70249	-0.4924	10	0.72032	D	0.01	.	8.1861	0.31339	0.0:0.214:0.0:0.786	.	345;345	A6NF00;P24043	.;LAMA2_HUMAN	K	345	ENSP00000400365:N345K	ENSP00000346769:N345K	N	+	3	2	LAMA2	129517350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.649000	0.37281	1.119000	0.41883	0.533000	0.62120	AAT		0.294	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			14	32	0	0	0	0	14	32				
HBS1L	10767	broad.mit.edu	37	6	135371740	135371740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:135371740T>C	ENST00000367837.5	-	2	295	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	HBS1L_ENST00000314674.3_Missense_Mutation_p.Y30C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367826.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367824.4_5'UTR|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y30C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	30					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CGAAATACAATAATCATCCTC	0.299																																						uc003qez.2		NA																	0				skin(2)	2						c.(88-90)TAT>TGT		Hsp70 subfamily B suppressor 1-like protein							26.0	26.0	26.0					6																	135371740		2202	4290	6492	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135371740T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.89A>G	6.37:g.135371740T>C	ENSP00000356811:p.Tyr30Cys					HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_5'UTR|HBS1L_uc011eda.1_Missense_Mutation_p.Y30C|HBS1L_uc003qfa.2_Missense_Mutation_p.Y30C	p.Y30C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	2	296	-	Colorectal(23;0.221)		30					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.89A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646714	0.67358	.	.	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000367826;ENST00000533274;ENST00000314674;ENST00000529882;ENST00000367822;ENST00000367820	T;T;T;T	0.68181	-0.24;-0.31;-0.18;-0.1	4.81	4.81	0.61882	Domain of unknown function DUF1916 (2);	0.172167	0.53938	D	0.000060	T	0.77552	0.4147	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.991;0.998;0.995	T	0.81784	-0.0774	10	0.87932	D	0	-22.0634	14.3038	0.66373	0.0:0.0:0.0:1.0	.	30;30;30	Q9Y450-4;Q9Y450-2;Q9Y450	.;.;HBS1L_HUMAN	C	30;30;30;7;30;45;30;30	ENSP00000356811:Y30C;ENSP00000389826:Y30C;ENSP00000356800:Y30C;ENSP00000434533:Y7C	ENSP00000323566:Y30C	Y	-	2	0	HBS1L	135413433	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.807000	0.62576	1.911000	0.55334	0.533000	0.62120	TAT		0.299	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			10	8	0	0	0	0	10	8				
SLC22A2	6582	broad.mit.edu	37	6	160666488	160666488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:160666488C>T	ENST00000366953.3	-	6	1305	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.M328I	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	349					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACATCAATATCATAGTATGTT	0.373																																						uc003qtf.2		NA																	0				breast(1)|skin(1)	2						c.(1045-1047)ATG>ATA		solute carrier family 22 member 2							94.0	88.0	90.0					6																	160666488		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160666488C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1047G>A	6.37:g.160666488C>T	ENSP00000355920:p.Met349Ile					SLC22A2_uc003qte.1_Missense_Mutation_p.M349I	p.M349I	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	6	1217	-		Breast(66;0.000776)|Ovarian(120;0.0303)	349			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.1047G>A	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176961	0.38413	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73575	-0.76;0.51	5.17	4.29	0.51040	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.508000	0.20437	N	0.092354	T	0.22898	0.0553	N	0.01091	-1.02	0.22050	N	0.99939	B;B	0.09022	0.0;0.002	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.27082	T	0.32	.	10.1412	0.42736	0.1417:0.5839:0.2745:0.0	.	349;349	O15244;O15244-2	S22A2_HUMAN;.	I	349;328	ENSP00000355920:M349I;ENSP00000355919:M328I	ENSP00000355919:M328I	M	-	3	0	SLC22A2	160586478	0.641000	0.27251	0.888000	0.34837	0.760000	0.43138	-0.270000	0.08584	1.365000	0.46057	0.655000	0.94253	ATG		0.373	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		7	25	0	0	0	0	7	25				
MEOX2	4223	broad.mit.edu	37	7	15725704	15725704	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:15725704G>T	ENST00000262041.5	-	1	733	c.324C>A	c.(322-324)ctC>ctA	p.L108L	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	108					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCTGGAGGCAGAGGCTGTGCC	0.667																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(322-324)CTC>CTA		mesenchyme homeobox 2							12.0	14.0	14.0					7																	15725704		2187	4268	6455	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725704G>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.324C>A	7.37:g.15725704G>T						MEOX2_uc011jxw.1_Silent_p.L108L	p.L108L	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	605	-			108					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.324C>A	CCDS34605.1																																																																																				0.667	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		10	3	1	0	4.69e-08	1.08e-07	10	3				
FKBP14	55033	broad.mit.edu	37	7	30066006	30066006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:30066006C>T	ENST00000222803.5	-	1	294	c.119G>A	c.(118-120)cGc>cAc	p.R40H	AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000258679.7_5'Flank|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|PLEKHA8_ENST00000449726.1_5'Flank|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						TTTGGTCTTGCGATGGCAGAT	0.468																																						uc003tal.1		NA																	0					0						c.(118-120)CGC>CAC		FK506 binding protein 14 precursor							145.0	140.0	142.0					7																	30066006		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30066006C>T	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.119G>A	7.37:g.30066006C>T	ENSP00000222803:p.Arg40His					PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	p.R40H	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			1	263	-			40						Missense_Mutation	SNP	ENST00000222803.5	37	c.119G>A	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431550	0.96150	.	.	ENSG00000106080	ENST00000222803	T	0.46819	0.86	5.9	5.9	0.94986	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.048812	0.85682	D	0.000000	T	0.67552	0.2905	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63413	-0.6643	10	0.40728	T	0.16	-15.1174	18.8342	0.92155	0.0:1.0:0.0:0.0	.	40	Q9NWM8	FKB14_HUMAN	H	40	ENSP00000222803:R40H	ENSP00000222803:R40H	R	-	2	0	FKBP14	30032531	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.674000	0.68117	2.793000	0.96121	0.591000	0.81541	CGC		0.468	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		6	206	0	0	0	0	6	206				
ELMO1	9844	broad.mit.edu	37	7	36895309	36895309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:36895309C>T	ENST00000310758.4	-	22	2678	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ELMO1_ENST00000442504.1_Missense_Mutation_p.M677I|ELMO1_ENST00000448602.1_Missense_Mutation_p.M677I|ELMO1_ENST00000341056.3_Missense_Mutation_p.M379I|ELMO1_ENST00000396045.3_Missense_Mutation_p.M197I|ELMO1_ENST00000396040.2_Missense_Mutation_p.M197I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	677					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCGCTCATCATGTCCTTCC	0.542																																						uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(2029-2031)ATG>ATA		engulfment and cell motility 1 isoform 1							173.0	144.0	153.0					7																	36895309		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895309C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2031G>A	7.37:g.36895309C>T	ENSP00000312185:p.Met677Ile					ELMO1_uc003tfi.1_Missense_Mutation_p.M197I|ELMO1_uc003tfj.1_Missense_Mutation_p.M197I|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.M581I|ELMO1_uc010kxg.1_Missense_Mutation_p.M677I	p.M677I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			22	2338	-			677					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.2031G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294873	0.95546	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	4.88	4.88	0.63580	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.83118	2.625	0.80722	D	1	P	0.50528	0.936	P	0.49829	0.623	T	0.62258	-0.6892	10	0.26408	T	0.33	.	18.6148	0.91299	0.0:1.0:0.0:0.0	.	677	Q92556	ELMO1_HUMAN	I	379;197;677;581;197;677;677	ENSP00000342142:M379I;ENSP00000379360:M197I;ENSP00000312185:M677I;ENSP00000379355:M197I;ENSP00000406952:M677I;ENSP00000394458:M677I	ENSP00000312185:M677I	M	-	3	0	ELMO1	36861834	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.651000	0.83577	2.699000	0.92147	0.650000	0.86243	ATG		0.542	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		38	150	0	0	0	0	38	150				
GCK	2645	broad.mit.edu	37	7	44191894	44191894	+	Silent	SNP	G	G	A	rs149412035	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:44191894G>A	ENST00000403799.3	-	3	808	c.339C>T	c.(337-339)gaC>gaT	p.D113D	GCK_ENST00000345378.2_Silent_p.D114D|GCK_ENST00000437084.1_Silent_p.D113D|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000395796.3_Silent_p.D112D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	113	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.D114D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGTCATGGCGTCCTCGGGGA	0.632													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		19356	0.0		0.0	False		,,,				2504	0.0					uc003tkl.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|lung(1)	4						c.(337-339)GAC>GAT		glucokinase isoform 1		G	,,	60,4346	58.1+/-94.6	1,58,2144	266.0	223.0	238.0		339,342,336	-2.3	1.0	7	dbSNP_134	238	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GCK	NM_000162.3,NM_033507.1,NM_033508.1	,,	1,58,6444	AA,AG,GG		0.0,1.3618,0.4613	,,	113/466,114/467,112/465	44191894	60,12946	2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44191894G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.339C>T	7.37:g.44191894G>A						GCK_uc003tkj.1_Silent_p.D112D|GCK_uc003tkk.1_Silent_p.D114D	p.D113D	NM_000162	NP_000153	P35557	HXK4_HUMAN			3	809	-			113					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.339C>T	CCDS5479.1																																																																																				0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			98	84	0	0	0	0	98	84				
ZNF479	90827	broad.mit.edu	37	7	57188597	57188597	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:57188597A>G	ENST00000331162.4	-	5	795	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATCTTGTTTTATCTCTATTGG	0.279																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(523-525)GAT>GAC		zinc finger protein 479							50.0	47.0	48.0					7																	57188597		1877	4120	5997	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188597A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.525T>C	7.37:g.57188597A>G							p.D175D	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	796	-			175						Silent	SNP	ENST00000331162.4	37	c.525T>C	CCDS43590.1																																																																																				0.279	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		18	40	0	0	0	0	18	40				
PTPN12	5782	broad.mit.edu	37	7	77256506	77256506	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:77256506A>G	ENST00000248594.6	+	13	1782	c.1510A>G	c.(1510-1512)Aac>Gac	p.N504D	PTPN12_ENST00000415482.2_Missense_Mutation_p.N385D|PTPN12_ENST00000435495.2_Missense_Mutation_p.N374D	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	504					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACACAATCAAACAAAGTTTC	0.428																																						uc003ugh.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1510-1512)AAC>GAC		protein tyrosine phosphatase, non-receptor type							72.0	68.0	69.0					7																	77256506		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256506A>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1510A>G	7.37:g.77256506A>G	ENSP00000248594:p.Asn504Asp					PTPN12_uc011kgp.1_Missense_Mutation_p.N385D|PTPN12_uc011kgq.1_Missense_Mutation_p.N374D|PTPN12_uc010lds.2_Missense_Mutation_p.N236D	p.N504D	NM_002835	NP_002826	Q05209	PTN12_HUMAN			13	1601	+			504					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1510A>G	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	5.998	0.368092	0.11352	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	T;T;T;T	0.28895	3.95;3.36;3.36;1.59	5.83	-1.67	0.08238	.	0.664061	0.16232	N	0.223528	T	0.24353	0.0590	L	0.61218	1.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20638	-1.0269	10	0.29301	T	0.29	.	6.4328	0.21807	0.47:0.3336:0.1964:0.0	.	504	Q05209	PTN12_HUMAN	D	504;385;385;374;12	ENSP00000248594:N504D;ENSP00000392429:N385D;ENSP00000397991:N374D;ENSP00000385079:N12D	ENSP00000248594:N504D	N	+	1	0	PTPN12	77094442	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	0.011000	0.13264	-0.499000	0.06623	0.533000	0.62120	AAC		0.428	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	52	0	0	0	0	8	52				
ZNF804B	219578	broad.mit.edu	37	7	88963135	88963135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:88963135A>C	ENST00000333190.4	+	4	1448	c.839A>C	c.(838-840)gAg>gCg	p.E280A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	280							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGAAAAAGAGGTAAATATC	0.358										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(838-840)GAG>GCG		zinc finger protein 804B							70.0	66.0	68.0					7																	88963135		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963135A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.839A>C	7.37:g.88963135A>C	ENSP00000329638:p.Glu280Ala	HNSCC(36;0.09)					p.E280A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1377	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		280					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.839A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.363856	0.01235	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.04	-0.679	0.11350	.	0.851346	0.10180	N	0.705923	T	0.01695	0.0054	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47289	-0.9129	10	0.09338	T	0.73	-1.0885	0.6872	0.00885	0.3434:0.1065:0.1951:0.355	.	280	A4D1E1	Z804B_HUMAN	A	280	ENSP00000329638:E280A	ENSP00000329638:E280A	E	+	2	0	ZNF804B	88801071	0.011000	0.17503	0.001000	0.08648	0.529000	0.34654	0.171000	0.16685	0.057000	0.16193	0.533000	0.62120	GAG		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		11	39	0	0	0	0	11	39				
SAMD9L	219285	broad.mit.edu	37	7	92761451	92761451	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:92761451C>T	ENST00000318238.4	-	5	5050	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	SAMD9L_ENST00000411955.1_Silent_p.L1278L|SAMD9L_ENST00000437805.1_Silent_p.L1278L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCATTTTCAGAAGAACCA	0.328																																						uc003umh.1		NA																	0				ovary(4)	4						c.(3832-3834)CTG>CTA		sterile alpha motif domain containing 9-like							69.0	72.0	71.0					7																	92761451		2197	4297	6494	SO:0001819	synonymous_variant	219285							g.chr7:92761451C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3834G>A	7.37:g.92761451C>T						SAMD9L_uc003umj.1_Silent_p.L1278L|SAMD9L_uc003umi.1_Silent_p.L1278L|SAMD9L_uc010lfb.1_Silent_p.L1278L|SAMD9L_uc003umk.1_Silent_p.L1278L|SAMD9L_uc010lfc.1_Silent_p.L1278L|SAMD9L_uc010lfd.1_Silent_p.L1278L|SAMD9L_uc011khx.1_Intron	p.L1278L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5050	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1278					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.3834G>A	CCDS34681.1																																																																																				0.328	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		16	61	0	0	0	0	16	61				
EPHB4	2050	broad.mit.edu	37	7	100420076	100420076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:100420076C>T	ENST00000358173.3	-	4	1093	c.625G>A	c.(625-627)Gag>Aag	p.E209K	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.E209K	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	209	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACAGTCTCCGGGAATCGA	0.657																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(625-627)GAG>AAG		EPH receptor B4 precursor							42.0	44.0	44.0					7																	100420076		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420076C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.625G>A	7.37:g.100420076C>T	ENSP00000350896:p.Glu209Lys					EPHB4_uc003uwm.1_Missense_Mutation_p.E116K|EPHB4_uc010lhj.1_Missense_Mutation_p.E209K|EPHB4_uc011kkf.1_Missense_Mutation_p.E209K|EPHB4_uc011kkg.1_Missense_Mutation_p.E209K|EPHB4_uc011kkh.1_Missense_Mutation_p.E209K	p.E209K	NM_004444	NP_004435	P54760	EPHB4_HUMAN			4	1116	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		209			Extracellular (Potential).|Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.625G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497228	0.85069	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.74737	-0.87;-0.86	5.76	5.76	0.90799	.	0.226724	0.30602	N	0.009263	T	0.69450	0.3112	L	0.43646	1.37	0.58432	D	0.999999	P;B;P;B;P	0.48230	0.779;0.14;0.779;0.429;0.907	B;B;B;B;B	0.40329	0.293;0.026;0.293;0.081;0.326	T	0.73997	-0.3806	10	0.62326	D	0.03	.	17.4368	0.87554	0.0:1.0:0.0:0.0	.	209;209;209;209;209	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	K	209	ENSP00000353833:E209K;ENSP00000350896:E209K	ENSP00000350896:E209K	E	-	1	0	EPHB4	100258012	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	6.091000	0.71406	2.716000	0.92895	0.655000	0.94253	GAG		0.657	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		11	31	0	0	0	0	11	31				
PPP1R3A	5506	broad.mit.edu	37	7	113519867	113519867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:113519867A>G	ENST00000284601.3	-	4	1348	c.1280T>C	c.(1279-1281)cTa>cCa	p.L427P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	427					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATTGCACTAGTTCATCACT	0.428																																						uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1279-1281)CTA>CCA		protein phosphatase 1, regulatory (inhibitor)							149.0	135.0	140.0					7																	113519867		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519867A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1280T>C	7.37:g.113519867A>G	ENSP00000284601:p.Leu427Pro						p.L427P	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1311	-			427					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1280T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015904	0.19355	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.36878	2.18;1.23	5.43	0.296	0.15757	.	1.402030	0.04394	N	0.363011	T	0.39963	0.1098	L	0.59436	1.845	0.21386	N	0.99971	P	0.49961	0.93	P	0.48030	0.564	T	0.20672	-1.0268	10	0.42905	T	0.14	-0.3414	4.155	0.10256	0.4545:0.0:0.3805:0.1651	.	427	Q16821	PPR3A_HUMAN	P	427;106	ENSP00000284601:L427P;ENSP00000401278:L106P	ENSP00000284601:L427P	L	-	2	0	PPP1R3A	113307103	0.084000	0.21492	0.001000	0.08648	0.016000	0.09150	0.532000	0.23067	-0.084000	0.12595	0.459000	0.35465	CTA		0.428	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		85	62	0	0	0	0	85	62				
CTTNBP2	83992	broad.mit.edu	37	7	117450885	117450885	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:117450885G>A	ENST00000160373.3	-	3	439	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGCAGTGGGCCATGACTG	0.507																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(346-348)GCC>GCT		cortactin binding protein 2							211.0	200.0	204.0					7																	117450885		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117450885G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.348C>T	7.37:g.117450885G>A							p.A116A	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	440	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		116					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.348C>T	CCDS5774.1																																																																																				0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		47	217	0	0	0	0	47	217				
TG	7038	broad.mit.edu	37	8	133898695	133898695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:133898695G>T	ENST00000220616.4	+	9	1118	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	TG_ENST00000377869.1_Nonsense_Mutation_p.E360*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1078-1080)GAA>TAA		thyroglobulin precursor							84.0	85.0	85.0					8																	133898695		2203	4300	6503	SO:0001587	stop_gained	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133898695G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1078G>T	8.37:g.133898695G>T	ENSP00000220616:p.Glu360*						p.E360*	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1119	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	360					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	c.1078G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031515	0.75504	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	.	.	.	5.28	3.44	0.39384	.	2.889650	0.01148	N	0.006354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.203	0.31436	0.0797:0.0:0.7655:0.1548	.	.	.	.	X	360	.	ENSP00000220616:E360X	E	+	1	0	TG	133967877	0.987000	0.35691	0.635000	0.29338	0.083000	0.17756	2.233000	0.43027	0.750000	0.32877	0.655000	0.94253	GAA		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		50	98	1	0	3.86e-30	9.47e-30	50	98				
TIGD5	84948	broad.mit.edu	37	8	144681367	144681367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144681367G>A	ENST00000504548.2	+	1	1294	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	TIGD5_ENST00000321385.3_Missense_Mutation_p.E383K|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	432	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTACAAGCGCGAGCTGCTGCG	0.647																																						uc003yyx.1		NA																	0					0						c.(1147-1149)GAG>AAG		tigger transposable element derived 5							18.0	19.0	19.0					8																	144681367		2185	4292	6477	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681367G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1294G>A	8.37:g.144681367G>A	ENSP00000421489:p.Glu432Lys					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.E383K	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1147	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		432					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1147G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462069	0.63513	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.39787	1.06;1.06	4.6	4.6	0.57074	.	0.000000	0.56097	U	0.000028	T	0.46190	0.1380	L	0.50333	1.59	0.29159	N	0.877882	P	0.52577	0.954	P	0.51945	0.685	T	0.42344	-0.9457	10	0.08381	T	0.77	.	16.4207	0.83758	0.0:0.0:1.0:0.0	.	383	Q53EQ6	TIGD5_HUMAN	K	432;383	ENSP00000421489:E432K;ENSP00000315906:E383K	ENSP00000315906:E383K	E	+	1	0	TIGD5	144752510	1.000000	0.71417	0.975000	0.42487	0.747000	0.42532	4.091000	0.57700	2.080000	0.62538	0.655000	0.94253	GAG		0.647	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		10	28	0	0	0	0	10	28				
MAPK15	225689	broad.mit.edu	37	8	144801638	144801638	+	Missense_Mutation	SNP	C	C	T	rs541074717		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144801638C>T	ENST00000338033.4	+	7	826	c.707C>T	c.(706-708)cCg>cTg	p.P236L	MAPK15_ENST00000395107.4_Missense_Mutation_p.P253L|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.P236L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCATCCCACCGCCATCTGAG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15187	0.0		0.0	False		,,,				2504	0.001					uc003yzj.2		NA																	0				lung(2)	2						c.(706-708)CCG>CTG		mitogen-activated protein kinase 15							37.0	36.0	36.0					8																	144801638		2203	4299	6502	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144801638C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.707C>T	8.37:g.144801638C>T	ENSP00000337691:p.Pro236Leu						p.P236L	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	748	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.707C>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192395	0.21954	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.66280	-0.2;-0.2;-0.2	4.66	1.26	0.21427	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.430731	0.24393	N	0.038907	T	0.39410	0.1077	N	0.20445	0.575	0.09310	N	1	B	0.18166	0.026	B	0.21546	0.035	T	0.23226	-1.0194	10	0.09843	T	0.71	-12.2009	8.0428	0.30532	0.0:0.6948:0.0:0.3052	.	236	Q8TD08	MK15_HUMAN	L	236;253;236	ENSP00000337691:P236L;ENSP00000378539:P253L;ENSP00000378540:P236L	ENSP00000337691:P236L	P	+	2	0	MAPK15	144873626	0.002000	0.14202	0.000000	0.03702	0.056000	0.15407	1.560000	0.36331	-0.083000	0.12618	0.491000	0.48974	CCG		0.657	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		26	28	0	0	0	0	26	28				
EPPK1	83481	broad.mit.edu	37	8	144942354	144942354	+	Missense_Mutation	SNP	T	T	C	rs113992087	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144942354T>C	ENST00000525985.1	-	2	5139	c.5068A>G	c.(5068-5070)Atc>Gtc	p.I1690V				P58107	EPIPL_HUMAN	epiplakin 1	1690						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGATGCCGCCCGTG	0.677													T|||	3	0.000599042	0.0008	0.0	5008	,	,		16312	0.001		0.0	False		,,,				2504	0.001					uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(5068-5070)ATC>GTC		epiplakin 1							56.0	61.0	59.0					8																	144942354		2038	4169	6207	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942354T>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5068A>G	8.37:g.144942354T>C	ENSP00000436337:p.Ile1690Val						p.I1690V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5081	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1690			Plectin 29.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5068A>G		.	.	.	.	.	.	.	.	.	.	T	16.55	3.155270	0.57259	.	.	ENSG00000227184	ENST00000525985	T	0.79845	-1.31	4.88	2.53	0.30540	.	.	.	.	.	T	0.74831	0.3768	L	0.39326	1.205	0.27124	N	0.962053	B	0.30763	0.294	B	0.43251	0.413	T	0.61496	-0.7051	9	0.13108	T	0.6	.	6.2726	0.20963	0.0:0.2897:0.0:0.7103	.	1690	E9PPU0	.	V	1690	ENSP00000436337:I1690V	ENSP00000436337:I1690V	I	-	1	0	EPPK1	145014342	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.031000	0.41117	0.375000	0.24679	0.482000	0.46254	ATC		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		14	114	0	0	0	0	14	114				
PLEC	5339	broad.mit.edu	37	8	145012852	145012852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145012852C>T	ENST00000322810.4	-	2	701	c.532G>A	c.(532-534)Gat>Aat	p.D178N	PLEC_ENST00000354958.2_Missense_Mutation_p.D19N|PLEC_ENST00000436759.2_Missense_Mutation_p.D68N|PLEC_ENST00000527096.1_Missense_Mutation_p.D68N|PLEC_ENST00000345136.3_Missense_Mutation_p.D41N|PLEC_ENST00000398774.2_Missense_Mutation_p.D9N|PLEC_ENST00000356346.3_Missense_Mutation_p.D27N|PLEC_ENST00000357649.2_Missense_Mutation_p.D45N|PLEC_ENST00000354589.3_Missense_Mutation_p.D41N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	178	Actin-binding.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCACACGATCCCGCTCATCT	0.627																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(532-534)GAT>AAT		plectin isoform 1							97.0	98.0	98.0					8																	145012852		2200	4296	6496	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145012852C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.532G>A	8.37:g.145012852C>T	ENSP00000323856:p.Asp178Asn					PLEC_uc003zab.1_Missense_Mutation_p.D41N|PLEC_uc003zac.1_Missense_Mutation_p.D45N|PLEC_uc003zad.2_Missense_Mutation_p.D41N|PLEC_uc003zae.1_Missense_Mutation_p.D9N|PLEC_uc003zag.1_Missense_Mutation_p.D19N|PLEC_uc003zah.2_Missense_Mutation_p.D27N|PLEC_uc003zaj.2_Missense_Mutation_p.D68N	p.D178N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			2	702	-			178			Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.532G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194910	0.58017	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	4.4	3.51	0.40186	Calponin homology domain (2);	0.000000	0.64402	U	0.000012	D	0.93552	0.7942	M	0.70842	2.15	0.49915	D	0.999833	B;B;B;B;B;B;B;B	0.15930	0.005;0.015;0.015;0.009;0.015;0.015;0.015;0.015	B;B;B;B;B;B;B;B	0.20384	0.008;0.029;0.029;0.013;0.029;0.029;0.029;0.029	D	0.91007	0.4847	10	0.87932	D	0	.	8.4815	0.33045	0.0:0.8917:0.0:0.1083	.	68;27;19;178;9;41;45;41	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	41;45;41;9;178;19;27;68;68;68;18;58	ENSP00000344848:D41N;ENSP00000350277:D45N;ENSP00000346602:D41N;ENSP00000381756:D9N;ENSP00000323856:D178N;ENSP00000347044:D19N;ENSP00000348702:D27N;ENSP00000388180:D68N;ENSP00000434583:D68N;ENSP00000437303:D68N;ENSP00000433557:D18N;ENSP00000436702:D58N	ENSP00000323856:D178N	D	-	1	0	PLEC	145084840	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	4.647000	0.61418	1.073000	0.40885	0.655000	0.94253	GAT		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		20	67	0	0	0	0	20	67				
CPSF1	29894	broad.mit.edu	37	8	145624248	145624248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145624248C>T	ENST00000349769.3	-	17	1653	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	520					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCTGGGGCCGGATGCTCTT	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(1558-1560)CGG>CAG		cleavage and polyadenylation specific factor 1,							77.0	85.0	83.0					8																	145624248		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624248C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1559G>A	8.37:g.145624248C>T	ENSP00000339353:p.Arg520Gln						p.R520Q	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		17	1634	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		520					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1559G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	36	5.815309	0.96982	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.47535	-0.9110	10	0.18276	T	0.48	-13.485	17.8483	0.88737	0.0:1.0:0.0:0.0	.	520	Q10570	CPSF1_HUMAN	Q	520	ENSP00000339353:R520Q	ENSP00000339353:R520Q	R	-	2	0	CPSF1	145595056	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.050000	0.76620	2.817000	0.96982	0.655000	0.94253	CGG		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		97	85	0	0	0	0	97	85				
DNAJA1	3301	broad.mit.edu	37	9	33034296	33034296	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:33034296G>T	ENST00000330899.4	+	6	909	c.726G>T	c.(724-726)gtG>gtT	p.V242V	DNAJA1_ENST00000544625.1_Silent_p.V85V|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	242					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTATCATTGTGTTAGATCAGA	0.368																																						uc003zsd.1		NA																	0					0						c.(724-726)GTG>GTT		DnaJ (Hsp40) homolog, subfamily A, member 1							80.0	75.0	77.0					9																	33034296		2203	4300	6503	SO:0001819	synonymous_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33034296G>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.726G>T	9.37:g.33034296G>T						DNAJA1_uc011lnt.1_Silent_p.V85V|DNAJA1_uc003zse.1_Silent_p.V242V	p.V242V	NM_001539	NP_001530	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	6	909	+			242					Q5T7Q0|Q86TL9	Silent	SNP	ENST00000330899.4	37	c.726G>T	CCDS6533.1																																																																																				0.368	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			13	26	1	0	5.51e-06	1.22e-05	13	26				
PTAR1	375743	broad.mit.edu	37	9	72338400	72338400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:72338400C>G	ENST00000340434.4	-	6	792	c.789G>C	c.(787-789)ttG>ttC	p.L263F	PTAR1_ENST00000377200.5_Missense_Mutation_p.L184F	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	263					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GCTCACTTCTCAAAGGATTTT	0.423																																						uc004ahj.3		NA																	0				central_nervous_system(1)	1						c.(787-789)TTG>TTC		protein prenyltransferase alpha subunit repeat							120.0	113.0	116.0					9																	72338400		1877	4117	5994	SO:0001583	missense	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72338400C>G	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.789G>C	9.37:g.72338400C>G	ENSP00000344299:p.Leu263Phe					PTAR1_uc004ahi.2_Missense_Mutation_p.L184F	p.L263F	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN			6	811	-			263					Q5T7V5|Q5T7V6	Missense_Mutation	SNP	ENST00000340434.4	37	c.789G>C	CCDS47978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.318|9.318	1.057207|1.057207	0.19907|0.19907	.|.	.|.	ENSG00000188647|ENSG00000188647	ENST00000415701|ENST00000377200;ENST00000340434	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Protein prenyltransferase (1);	.|0.551296	.|0.19085	.|N	.|0.123139	T|T	0.34424|0.34424	0.0897|0.0897	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P	.|0.42735	.|0.788	.|B	.|0.33042	.|0.157	T|T	0.18398|0.18398	-1.0338|-1.0338	5|9	.|0.09338	.|T	.|0.73	.|.	14.0816|14.0816	0.64925|0.64925	0.0:0.9279:0.0:0.0721|0.0:0.9279:0.0:0.0721	.|.	.|263	.|Q7Z6K3	.|PTAR1_HUMAN	Q|F	30|184;263	.|.	.|ENSP00000344299:L263F	E|L	-|-	1|3	0|2	PTAR1|PTAR1	71528220|71528220	0.579000|0.579000	0.26725|0.26725	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.308000|1.308000	0.33528|0.33528	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.423	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		19	53	0	0	0	0	19	53				
TRPM3	80036	broad.mit.edu	37	9	73167793	73167793	+	Missense_Mutation	SNP	C	C	T	rs377602208		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:73167793C>T	ENST00000377111.2	-	23	3748	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K	TRPM3_ENST00000408909.2_Missense_Mutation_p.E1028K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1031K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1031K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1169K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1196K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1041K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1018K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1173K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1041K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1194					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGTCGCTCTCGTGTTTCCTC	0.527																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3505-3507)GAG>AAG		transient receptor potential cation channel,							215.0	202.0	207.0					9																	73167793		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73167793C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3505G>A	9.37:g.73167793C>T	ENSP00000366315:p.Glu1169Lys					TRPM3_uc004ahu.2_Missense_Mutation_p.E1011K|TRPM3_uc004ahv.2_Missense_Mutation_p.E971K|TRPM3_uc004ahw.2_Missense_Mutation_p.E1041K|TRPM3_uc004ahx.2_Missense_Mutation_p.E1028K|TRPM3_uc004ahy.2_Missense_Mutation_p.E1031K|TRPM3_uc004ahz.2_Missense_Mutation_p.E1018K|TRPM3_uc004aia.2_Missense_Mutation_p.E1016K|TRPM3_uc004aib.2_Missense_Mutation_p.E1006K|TRPM3_uc004aic.2_Missense_Mutation_p.E1169K	p.E1169K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			23	3749	-			1194			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3505G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.897278|2.897278	0.52121|0.52121	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.55760|.	0.5;0.65;0.6;0.61;0.56;0.66;0.56;0.6;0.6;0.61;0.65|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.078568|.	0.53938|.	D|.	0.000048|.	T|T	0.58119|0.58119	0.2100|0.2100	N|N	0.25890|0.25890	0.77|0.77	0.49130|0.49130	D|D	0.999754|0.999754	B;B;B;B;B;B;B;B|.	0.31640|.	0.001;0.006;0.133;0.001;0.0;0.333;0.001;0.005|.	B;B;B;B;B;B;B;B|.	0.30029|.	0.004;0.002;0.099;0.002;0.002;0.11;0.004;0.004|.	T|T	0.50320|0.50320	-0.8842|-0.8842	10|5	0.08381|.	T|.	0.77|.	-17.5071|-17.5071	20.063|20.063	0.97692|0.97692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1169;1169;1159;1173;1031;1028;1141;1028|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|Q	1169;1169;1041;1031;1028;1173;1028;1028;1041;1031;1196|1017	ENSP00000366315:E1169K;ENSP00000366314:E1169K;ENSP00000366310:E1041K;ENSP00000354066:E1031K;ENSP00000366309:E1028K;ENSP00000350140:E1173K;ENSP00000386127:E1028K;ENSP00000379581:E1028K;ENSP00000379587:E1041K;ENSP00000350791:E1031K;ENSP00000389542:E1196K|.	ENSP00000350140:E1173K|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72357613|72357613	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.485000|0.485000	0.33311|0.33311	5.727000|5.727000	0.68523|0.68523	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.527	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		66	170	0	0	0	0	66	170				
PTCH1	5727	broad.mit.edu	37	9	98239882	98239882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:98239882C>A	ENST00000331920.6	-	10	1749	c.1450G>T	c.(1450-1452)Gga>Tga	p.G484*	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G483*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.G418*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G418*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G333*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G333*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	484	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G484R(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCCCAGTCCTGCAGCCACT	0.572																																						uc004avk.3		NA																	1	Substitution - Missense(1)	p.G484R(1)	skin(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379	GRCh37	CM032341	PTCH1	M		c.(1450-1452)GGA>TGA		patched isoform L							50.0	53.0	52.0					9																	98239882		2203	4300	6503	SO:0001587	stop_gained	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239882C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1450G>T	9.37:g.98239882C>A	ENSP00000332353:p.Gly484*					PTCH1_uc010mro.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.G333*|PTCH1_uc004avl.3_Nonsense_Mutation_p.G333*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.G418*|PTCH1_uc004avm.3_Nonsense_Mutation_p.G483*|PTCH1_uc010mrs.1_Intron	p.G484*	NM_000264	NP_000255	Q13635	PTC1_HUMAN			10	1638	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	484			SSD.|Helical; (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.1450G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	42	9.412021	0.99163	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.06	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.8386	13.802	0.63206	0.0:0.9261:0.0:0.0739	.	.	.	.	X	484;418;333;333;418;333;483	.	ENSP00000332353:G484X	G	-	1	0	PTCH1	97279703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	1.351000	0.45789	0.655000	0.94253	GGA		0.572	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		45	10	1	0	3.55e-21	8.58e-21	45	10				
ALG2	85365	broad.mit.edu	37	9	101980370	101980370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:101980370G>A	ENST00000476832.1	-	2	1158	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	ALG2_ENST00000319033.6_Missense_Mutation_p.P273L	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.P366Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGCACCGGGTCAGGCTC	0.502																																						uc004azf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1096-1098)CCG>CTG		alpha-1,3-mannosyltransferase ALG2							94.0	92.0	93.0					9																	101980370		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980370G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.1097C>T	9.37:g.101980370G>A	ENSP00000417764:p.Pro366Leu					ALG2_uc004azg.2_Missense_Mutation_p.P273L	p.P366L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	1167	-		Acute lymphoblastic leukemia(62;0.0559)	366					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.1097C>T	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927400	0.92389	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.80909	-1.43;-1.43	5.87	5.87	0.94306	Glycosyl transferase, family 1 (1);	0.047466	0.85682	D	0.000000	D	0.90126	0.6915	M	0.85710	2.77	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.60236	0.844;0.871	D	0.89698	0.3903	10	0.52906	T	0.07	-7.1645	20.5827	0.99408	0.0:0.0:1.0:0.0	.	273;366	Q9H553-2;Q9H553	.;ALG2_HUMAN	L	366;273	ENSP00000417764:P366L;ENSP00000326609:P273L	ENSP00000432675:P273L	P	-	2	0	ALG2	101020191	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCG		0.502	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		26	59	0	0	0	0	26	59				
FRRS1L	23732	broad.mit.edu	37	9	111903702	111903702	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:111903702C>T	ENST00000561981.2	-	4	782	c.783G>A	c.(781-783)gtG>gtA	p.V261V		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	261	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGGGAACATTCACAGGGCGTT	0.448																																						uc004bdw.1		NA																	0					0						c.(781-783)GTG>GTA		hypothetical protein LOC23732							171.0	158.0	162.0					9																	111903702		2203	4300	6503	SO:0001819	synonymous_variant	23732					integral to membrane		g.chr9:111903702C>T	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.783G>A	9.37:g.111903702C>T							p.V261V	NM_014334	NP_055149	Q9P0K9	CI004_HUMAN			4	783	-			261			DOMON.		Q5T4G4	Silent	SNP	ENST00000561981.2	37	c.783G>A	CCDS35098.1																																																																																				0.448	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		61	24	0	0	0	0	61	24				
SH2D3C	10044	broad.mit.edu	37	9	130536273	130536273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:130536273C>T	ENST00000314830.8	-	2	624	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	SH2D3C_ENST00000373277.4_5'Flank|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	171					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTACCTTTCTGAGTGCACG	0.522																																						uc004bsc.2		NA																	0				ovary(1)	1						c.(511-513)GAA>AAA		SH2 domain containing 3C isoform a							75.0	66.0	69.0					9																	130536273		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536273C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.511G>A	9.37:g.130536273C>T	ENSP00000317817:p.Glu171Lys					SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.E115K	p.E171K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			2	653	-			171					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.511G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846736	0.51164	.	.	ENSG00000095370	ENST00000314830	T	0.12255	2.7	4.96	4.96	0.65561	.	0.464564	0.21740	N	0.069826	T	0.11922	0.0290	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	10	0.19590	T	0.45	.	14.0916	0.64995	0.0:1.0:0.0:0.0	.	171	Q8N5H7	SH2D3_HUMAN	K	171	ENSP00000317817:E171K	ENSP00000317817:E171K	E	-	1	0	SH2D3C	129576094	0.998000	0.40836	0.991000	0.47740	0.566000	0.35808	2.073000	0.41519	2.485000	0.83878	0.561000	0.74099	GAA		0.522	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		31	12	0	0	0	0	31	12				
PPP2R4	5524	broad.mit.edu	37	9	131897100	131897100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:131897100C>T	ENST00000337738.1	+	7	859	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PPP2R4_ENST00000355007.3_Missense_Mutation_p.L121F|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Missense_Mutation_p.L163F|PPP2R4_ENST00000348141.5_Missense_Mutation_p.L169F|PPP2R4_ENST00000452489.2_Missense_Mutation_p.L198F|PPP2R4_ENST00000357197.4_Missense_Mutation_p.L134F|PPP2R4_ENST00000358994.4_Missense_Mutation_p.L163F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	198					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGCTGCTTTCCTCTGCTGTCT	0.512																																					Colon(158;2158 2504 4450 20433)	uc004bxm.1		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(592-594)CTC>TTC		protein phosphatase 2A, regulatory subunit B'							120.0	109.0	113.0					9																	131897100		2203	4300	6503	SO:0001583	missense	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131897100C>T	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.592C>T	9.37:g.131897100C>T	ENSP00000337448:p.Leu198Phe					PPP2R4_uc004bxl.1_Missense_Mutation_p.L163F|PPP2R4_uc011mbo.1_Missense_Mutation_p.L198F|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.L163F|PPP2R4_uc004bxo.1_Missense_Mutation_p.L121F|PPP2R4_uc011mbp.1_Missense_Mutation_p.L134F|PPP2R4_uc011mbq.1_Missense_Mutation_p.L121F|PPP2R4_uc010mys.1_Missense_Mutation_p.L128F	p.L198F	NM_178001	NP_821068	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	7	859	+		Medulloblastoma(224;0.235)	198					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	37	c.592C>T		.	.	.	.	.	.	.	.	.	.	C	28.4	4.915933	0.92178	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000414331;ENST00000417728;ENST00000453358	T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.996;0.997;0.997	T	0.82192	-0.0579	10	0.87932	D	0	-30.5688	16.621	0.84930	0.0:1.0:0.0:0.0	.	121;134;198;121;198;163	B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2	.;.;.;.;PTPA_HUMAN;.	F	163;198;163;198;169;198;134;198;121;126;128;128	ENSP00000351885:L163F;ENSP00000395499:L198F;ENSP00000377036:L163F;ENSP00000337448:L198F;ENSP00000335200:L169F;ENSP00000394338:L198F;ENSP00000349726:L134F;ENSP00000406997:L198F;ENSP00000347109:L121F;ENSP00000399069:L126F;ENSP00000403542:L128F;ENSP00000393092:L128F	ENSP00000337448:L198F	L	+	1	0	PPP2R4	130936921	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.622000	0.67750	2.666000	0.90696	0.561000	0.74099	CTC		0.512	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		55	14	0	0	0	0	55	14				
SLC35A2	7355	broad.mit.edu	37	X	48762651	48762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:48762651C>T	ENST00000247138.5	-	4	538	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V118I|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.V179I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V207I	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	179					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACAATGGCGACGCCAGTGAAG	0.657																																						uc004dlo.1		NA																	0				breast(1)	1						c.(535-537)GTC>ATC		solute carrier family 35, member A2 isoform a							27.0	20.0	23.0					X																	48762651		2197	4295	6492	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762651C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.535G>A	X.37:g.48762651C>T	ENSP00000247138:p.Val179Ile					SLC35A2_uc011mml.1_Missense_Mutation_p.V192I|SLC35A2_uc004dlp.1_Missense_Mutation_p.V179I|SLC35A2_uc011mmm.1_Missense_Mutation_p.V207I|SLC35A2_uc011mmn.1_Missense_Mutation_p.V118I|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	p.V179I	NM_005660	NP_005651	P78381	S35A2_HUMAN			4	539	-			179			Helical; (Potential).		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.535G>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288543	0.80914	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555;ENST00000446885	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.13	5.13	0.70059	.	0.068875	0.56097	D	0.000022	T	0.59500	0.2198	L	0.53671	1.685	0.80722	D	1	D;D;D;D;D	0.67145	0.994;0.996;0.994;0.995;0.99	P;P;P;P;P	0.61874	0.846;0.895;0.872;0.831;0.784	T	0.55742	-0.8093	10	0.31617	T	0.26	-24.0959	14.3302	0.66550	0.0:1.0:0.0:0.0	.	118;207;192;179;179	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	I	179;179;118;207;107	ENSP00000247138:V179I;ENSP00000365704:V179I;ENSP00000393233:V118I;ENSP00000416002:V207I;ENSP00000415518:V107I	ENSP00000247138:V179I	V	-	1	0	SLC35A2	48647595	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	6.848000	0.75409	2.356000	0.79943	0.600000	0.82982	GTC		0.657	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		7	4	0	0	0	0	7	4				
TAF1	6872	broad.mit.edu	37	X	70618519	70618519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:70618519G>C	ENST00000373790.4	+	24	3766	c.3715G>C	c.(3715-3717)Gaa>Caa	p.E1239Q	TAF1_ENST00000449580.1_Missense_Mutation_p.E1239Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1260Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E1260Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1239					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAACCAGGAAAAGGAGAA	0.458																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3715-3717)GAA>CAA		TBP-associated factor 1 isoform 2							91.0	78.0	82.0					X																	70618519		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70618519G>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3715G>C	X.37:g.70618519G>C	ENSP00000362895:p.Glu1239Gln					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1260Q|TAF1_uc004dzv.3_Missense_Mutation_p.E413Q	p.E1239Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			24	3766	+	Renal(35;0.156)	all_lung(315;0.000321)	1239			HMG box.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3715G>C	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.1|26.1	4.708339|4.708339	0.89018|0.89018	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072|ENST00000483985	T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.092726|.	0.64402|.	D|.	0.000001|.	T|T	0.66548|0.66548	0.2800|0.2800	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45044|.	0.849;0.765;0.811|.	P;P;P|.	0.50791|.	0.65;0.447;0.554|.	T|T	0.62746|0.62746	-0.6789|-0.6789	10|5	0.51188|.	T|.	0.08|.	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1239;1239;1260|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	Q|S	1239;1239;1260;1260|149	ENSP00000362895:E1239Q;ENSP00000389000:E1239Q;ENSP00000406549:E1260Q;ENSP00000276072:E1260Q|.	ENSP00000276072:E1260Q|.	E|R	+|+	1|3	0|2	TAF1|TAF1	70535244|70535244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GAA|AGG		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		19	2	0	0	0	0	19	2				
MAGEC3	139081	broad.mit.edu	37	X	140985505	140985505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:140985505G>T	ENST00000298296.1	+	8	1819	c.1819G>T	c.(1819-1821)Gct>Tct	p.A607S	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	607	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTACATGGATGCTTTGAAAGA	0.488																																						uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1819-1821)GCT>TCT		melanoma antigen family C, 3 isoform 1							93.0	83.0	86.0					X																	140985505		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985505G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1819G>T	X.37:g.140985505G>T	ENSP00000298296:p.Ala607Ser					MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.A607S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1819	+	Acute lymphoblastic leukemia(192;6.56e-05)		607			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1819G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.959231	0.34565	.	.	ENSG00000165509	ENST00000298296	T	0.08282	3.11	1.25	1.25	0.21368	.	.	.	.	.	T	0.25975	0.0633	M	0.88241	2.94	0.09310	N	1	P	0.41710	0.76	P	0.56751	0.805	T	0.05550	-1.0878	9	0.87932	D	0	.	5.4273	0.16433	0.0:0.0:1.0:0.0	.	607	Q8TD91	MAGC3_HUMAN	S	607	ENSP00000298296:A607S	ENSP00000298296:A607S	A	+	1	0	MAGEC3	140813171	0.007000	0.16637	0.002000	0.10522	0.047000	0.14425	2.094000	0.41719	0.898000	0.36418	0.284000	0.19432	GCT		0.488	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		46	15	1	0	8.01e-26	1.95e-25	46	15				
TFAP2E	339488	broad.mit.edu	37	1	36039988	36039988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:36039988delC	ENST00000373235.3	+	2	696	c.488delC	c.(487-489)gccfs	p.A163fs	RP4-728D4.2_ENST00000444348.1_RNA|RP4-728D4.2_ENST00000425881.1_RNA	NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGCGGCGGCCCCCGGTCTG	0.711																																						uc010ohy.1		NA																	0					0						c.(487-489)GCCfs		transcription factor AP-2 epsilon (activating							2.0	2.0	2.0					1																	36039988		887	2081	2968	SO:0001589	frameshift_variant	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36039988delC	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.488delC	1.37:g.36039988delC	ENSP00000362332:p.Ala163fs					PSMB2_uc001bzd.1_3'UTR	p.A163fs	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN			2	696	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	163						Frame_Shift_Del	DEL	ENST00000373235.3	37	c.488delC	CCDS393.2																																																																																				0.711	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ACP6	51205	broad.mit.edu	37	1	147142082	147142083	+	Frame_Shift_Ins	INS	-	-	C	rs139439515		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:147142082_147142083insC	ENST00000369238.6	-	1	535_536	c.88_89insG	c.(88-90)gccfs	p.A30fs	ACP6_ENST00000392988.2_Frame_Shift_Ins_p.A30fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	30					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCGGCCAGGGCCACCCGCCGC	0.649																																						uc001epr.2		NA																	0				ovary(4)	4						c.(88-90)GCCfs		acid phosphatase 6, lysophosphatidic precursor																																				SO:0001589	frameshift_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147142082_147142083insC	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.89dupG	1.37:g.147142084_147142084dupC	ENSP00000358241:p.Ala30fs					ACP6_uc009wjj.1_Frame_Shift_Ins_p.A30fs	p.A30fs	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			1	552_553	-	all_hematologic(923;0.0276)		30					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Frame_Shift_Ins	INS	ENST00000369238.6	37	c.88_89insG	CCDS928.1																																																																																				0.649	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37657685	37657685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37657685delA	ENST00000447079.4	+	6	2635	c.2602delA	c.(2602-2604)aatfs	p.N869fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.N869fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CATTTTGCTGAATAACAGGTA	0.333			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(2602-2604)AATfs		Cdc2-related kinase, arginine/serine-rich							86.0	88.0	87.0					17																	37657685		2203	4300	6503	SO:0001589	frameshift_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.chr17:37657685delA	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.2602delA	17.37:g.37657685delA	ENSP00000398880:p.Asn869fs	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Frame_Shift_Del_p.N867fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.N868fs	p.N868fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			6	3188	+			868			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.2602delA	CCDS11337.1																																																																																				0.333	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		13	29	NA	NA	NA	NA	13	29	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547973	63547973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:63547973delC	ENST00000397968.2	+	12	2627	c.2201delC	c.(2200-2202)gctfs	p.A734fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A734fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	734					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGACATATGCTTTTGAAGGA	0.423																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2200-2202)GCTfs		cadherin 7, type 2 preproprotein							107.0	112.0	111.0					18																	63547973		2203	4300	6503	SO:0001589	frameshift_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547973delC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2201delC	18.37:g.63547973delC	ENSP00000381058:p.Ala734fs					CDH7_uc002lkb.2_Frame_Shift_Del_p.A734fs	p.A734fs	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2526	+		Esophageal squamous(42;0.129)	734			Cytoplasmic (Potential).		Q9H157	Frame_Shift_Del	DEL	ENST00000397968.2	37	c.2201delC	CCDS11993.1																																																																																				0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		21	102	NA	NA	NA	NA	21	102	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116572538	116572538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:116572538delG	ENST00000410059.1	+	20	2350	c.1870delG	c.(1870-1872)gtafs	p.V624fs	DPP10_ENST00000409163.1_Frame_Shift_Del_p.V574fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.V617fs|DPP10_ENST00000393147.2_Frame_Shift_Del_p.V628fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	624						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAGTAGAAGTAAAGGACCA	0.358																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1870-1872)GTAfs		dipeptidyl peptidase 10 isoform long							105.0	110.0	108.0					2																	116572538		2203	4300	6503	SO:0001589	frameshift_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572538delG	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1870delG	2.37:g.116572538delG	ENSP00000386565:p.Val624fs					DPP10_uc002tlb.1_Frame_Shift_Del_p.V574fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.V620fs|DPP10_uc002tle.2_Frame_Shift_Del_p.V628fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.V617fs	p.V624fs	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			20	2327	+			624			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Frame_Shift_Del	DEL	ENST00000410059.1	37	c.1870delG	CCDS46400.1																																																																																				0.358	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		10	78	NA	NA	NA	NA	10	78	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15472704	15472705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:15472704_15472705insT	ENST00000380733.4	-	10	1245_1246	c.902_903insA	c.(901-903)aatfs	p.N301fs	PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.N301fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	301					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTCAGCATATTCCTTCTGTG	0.361																																						uc003zlv.3		NA																	0				breast(1)	1						c.(901-903)AATfs		PC4 and SFRS1 interacting protein 1 isoform 2																																				SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15472704_15472705insT	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.903dupA	9.37:g.15472706_15472706dupT	ENSP00000370109:p.Asn301fs					PSIP1_uc003zlw.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zlz.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zma.3_Frame_Shift_Ins_p.N292fs|PSIP1_uc003zly.2_Frame_Shift_Ins_p.N301fs	p.N301fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	10	1232_1233	-			301					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Ins	INS	ENST00000380733.4	37	c.902_903insA	CCDS6479.1																																																																																				0.361	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		72	17	NA	NA	NA	NA	72	17	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21970919	21970919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:21970919delC	ENST00000304494.5	-	2	709	c.439delG	c.(439-441)gccfs	p.A148fs	CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249). {ECO:0000269|PubMed:10651484, ECO:0000269|PubMed:7987387, ECO:0000269|PubMed:8595405, ECO:0000269|PubMed:8653684, ECO:0000269|PubMed:8710906, ECO:0000269|PubMed:9328469}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.A147T(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTCCGCGGCATCTATGCGG	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1335	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(4)|Substitution - Missense(2)	p.0?(1112)|p.?(13)|p.R128fs*12(3)|p.A147A(2)|p.A147T(2)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(49)|oesophagus(48)|ovary(34)|pancreas(31)|kidney(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(439-441)GCCfs		cyclin-dependent kinase inhibitor 2A isoform 1							34.0	36.0	35.0					9																	21970919		2203	4300	6503	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21970919delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.439delG	9.37:g.21970919delC	ENSP00000307101:p.Ala148fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.A147fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	651	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	147					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.439delG	CCDS6510.1																																																																																				0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		29	10	NA	NA	NA	NA	29	10	---	---	---	---
