#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TKTL2	84076	broad.mit.edu	37	4	164394865	164394865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:164394865G>A	ENST00000280605.3	-	1	182	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	8						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)				TTCACGTCGGGCTTGGCGTCG	0.637																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(22-24)Ccc>Tcc		transketolase-like 2							30.0	27.0	28.0					4																	164394865		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394865G>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.22C>T	4.37:g.164394865G>A	ENSP00000280605:p.Pro8Ser						p.P8S	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	182	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	8					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.22C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133697	0.56828	.	.	ENSG00000151005	ENST00000280605	D	0.89810	-2.57	3.69	1.84	0.25277	.	0.076614	0.52532	U	0.000062	D	0.91784	0.7401	M	0.71581	2.175	0.09310	N	1	D	0.62365	0.991	P	0.61003	0.882	D	0.85242	0.1039	10	0.72032	D	0.01	-1.5101	11.4303	0.50036	0.0:0.351:0.649:0.0	.	8	Q9H0I9	TKTL2_HUMAN	S	8	ENSP00000280605:P8S	ENSP00000280605:P8S	P	-	1	0	TKTL2	164614315	0.991000	0.36638	0.003000	0.11579	0.296000	0.27459	3.831000	0.55776	0.473000	0.27368	0.491000	0.48974	CCC		0.637	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		3	29	0	0	0	1	0	3	29				
SLC45A4	57210	broad.mit.edu	37	8	142229061	142229061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:142229061C>A	ENST00000024061.3	-	4	832	c.525G>T	c.(523-525)tgG>tgT	p.W175C	SLC45A4_ENST00000519067.1_Missense_Mutation_p.W175C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCGGAACCAGCTGCCCA	0.652																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(523-525)tgG>tgT		solute carrier family 45, member 4							76.0	82.0	80.0					8																	142229061		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229061C>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.525G>T	8.37:g.142229061C>A	ENSP00000024061:p.Trp175Cys					SLC45A4_ENST00000024061.3_Missense_Mutation_p.W175C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C	p.W175C			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	828	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		226					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.525G>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892093	0.52014	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.45	5.45	0.79879	.	0.579581	0.19313	N	0.117356	D	0.91872	0.7427	L	0.39898	1.24	0.52501	D	0.999952	D;D;P	0.58970	0.984;0.967;0.867	P;P;P	0.57152	0.814;0.77;0.77	D	0.90176	0.4239	10	0.38643	T	0.18	-16.0369	11.2448	0.48990	0.148:0.7246:0.1274:0.0	.	226;175;175	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	175;226;168;175;33	ENSP00000429059:W175C;ENSP00000428137:W226C;ENSP00000400799:W168C;ENSP00000024061:W175C;ENSP00000429033:W33C	ENSP00000024061:W175C	W	-	3	0	SLC45A4	142298243	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	0.894000	0.28350	2.560000	0.86352	0.555000	0.69702	TGG		0.652	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		9	97	1	0	2.74318e-10	1	3.01503e-10	9	97				
MAP3K5	4217	broad.mit.edu	37	6	136913701	136913701	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:136913701C>G	ENST00000359015.4	-	22	3290	c.2930G>C	c.(2929-2931)aGc>aCc	p.S977T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	977					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S977I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGCTGCTGCTGGTGTCCTC	0.478																																						ENST00000359015.4																			1	Substitution - Missense(1)	p.S977I(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(2929-2931)aGc>aCc		mitogen-activated protein kinase kinase kinase 5							68.0	66.0	67.0					6																	136913701		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913701C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2930G>C	6.37:g.136913701C>G	ENSP00000351908:p.Ser977Thr					MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T	p.S977T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	22	3290	-	Colorectal(23;0.24)		977					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2930G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293859	0.60086	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71817	-0.45;-0.6	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	N	0.08118	0	0.80722	D	1	B;D	0.58268	0.017;0.982	B;D	0.67548	0.015;0.952	T	0.61392	-0.7072	10	0.17369	T	0.5	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	1057;977	Q59GL6;Q99683	.;M3K5_HUMAN	T	977;224;1057	ENSP00000351908:S977T;ENSP00000348104:S224T	ENSP00000348104:S224T	S	-	2	0	MAP3K5	136955394	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.487000	0.81328	2.831000	0.97527	0.655000	0.94253	AGC		0.478	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			5	70	0	0	0	1	0	5	70				
MYH3	4621	broad.mit.edu	37	17	10541713	10541713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10541713C>T	ENST00000583535.1	-	27	3463	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1126					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGGCCCTCTCCGCCTCTATC	0.657																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(3376-3378)Gag>Aag		myosin, heavy chain 3, skeletal muscle, embryonic							25.0	28.0	27.0					17																	10541713		2200	4292	6492	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10541713C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3376G>A	17.37:g.10541713C>T	ENSP00000464317:p.Glu1126Lys					MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K	p.E1126K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			27	3463	-			1126					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3376G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976804	0.92982	.	.	ENSG00000109063	ENST00000226209	D	0.85013	-1.93	5.34	5.34	0.76211	Myosin tail (1);	.	.	.	.	D	0.95859	0.8652	H	0.98351	4.21	0.52501	D	0.999953	D	0.89917	1.0	D	0.80764	0.994	D	0.97423	1.0010	9	0.87932	D	0	.	19.4024	0.94635	0.0:1.0:0.0:0.0	.	1126	P11055	MYH3_HUMAN	K	1126	ENSP00000226209:E1126K	ENSP00000226209:E1126K	E	-	1	0	MYH3	10482438	1.000000	0.71417	0.941000	0.38009	0.499000	0.33736	7.747000	0.85070	2.654000	0.90174	0.563000	0.77884	GAG		0.657	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		7	29	0	0	0	1	0	7	29				
DHX35	60625	broad.mit.edu	37	20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:37634810G>A	ENST00000252011.3	+	12	1066	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	DHX35_ENST00000373325.2_Missense_Mutation_p.A345T|DHX35_ENST00000373323.4_Missense_Mutation_p.A314T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1033-1035)Gca>Aca		DEAH (Asp-Glu-Ala-His) box polypeptide 35							319.0	313.0	315.0					20																	37634810		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634810G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1033G>A	20.37:g.37634810G>A	ENSP00000252011:p.Ala345Thr					DHX35_ENST00000373325.2_Missense_Mutation_p.A345T|DHX35_ENST00000373323.4_Missense_Mutation_p.A314T	p.A345T	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			12	1066	+		Myeloproliferative disorder(115;0.00878)	345			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1033G>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673783	0.96764	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.78481	-1.18;-1.18;-1.18	5.97	5.97	0.96955	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94305	0.7540	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	314;345	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	T	345;345;314	ENSP00000362422:A345T;ENSP00000252011:A345T;ENSP00000362420:A314T	ENSP00000252011:A345T	A	+	1	0	DHX35	37068224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.837000	0.97791	0.655000	0.94253	GCA		0.408	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		25	423	0	0	0	1	0	25	423				
PEX14	5195	broad.mit.edu	37	1	10659377	10659377	+	Silent	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:10659377A>C	ENST00000356607.4	+	4	332	c.252A>C	c.(250-252)acA>acC	p.T84T	PEX14_ENST00000538836.1_Silent_p.T20T	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	84					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCAGCCACACAGGTGGTTC	0.557																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(250-252)acA>acC		peroxisomal biogenesis factor 14							110.0	98.0	102.0					1																	10659377		2203	4300	6503	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10659377A>C	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.252A>C	1.37:g.10659377A>C						PEX14_ENST00000538836.1_Silent_p.T20T	p.T84T	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	4	332	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	84					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.252A>C	CCDS30582.1																																																																																				0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			12	90	0	0	0	1	0	12	90				
MAP2	4133	broad.mit.edu	37	2	210574652	210574652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:210574652C>T	ENST00000360351.4	+	12	5253	c.4747C>T	c.(4747-4749)Cgc>Tgc	p.R1583C	MAP2_ENST00000199940.6_Missense_Mutation_p.R284C|MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1583					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGAGCCAATTCGCAGAGCAGG	0.498																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4747-4749)Cgc>Tgc		microtubule-associated protein 2	Estramustine(DB01196)						99.0	86.0	90.0					2																	210574652		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574652C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4747C>T	2.37:g.210574652C>T	ENSP00000353508:p.Arg1583Cys					MAP2_ENST00000199940.6_Missense_Mutation_p.R284C|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C|MAP2_ENST00000475600.1_3'UTR	p.R1583C	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5253	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1583					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4747C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769632	0.69992	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.25085	1.82;3.08;2.12;2.12;3.09	5.31	5.31	0.75309	.	0.209062	0.34046	N	0.004314	T	0.34135	0.0887	L	0.27053	0.805	0.50632	D	0.999881	D;B;D;D;D	0.89917	1.0;0.022;0.999;1.0;1.0	D;B;P;D;D	0.79108	0.992;0.011;0.642;0.984;0.964	T	0.08330	-1.0727	10	0.66056	D	0.02	-6.9346	8.5856	0.33655	0.1531:0.7705:0.0:0.0764	.	1579;227;228;1583;284	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	C	284;1583;227;227;1579	ENSP00000199940:R284C;ENSP00000353508:R1583C;ENSP00000355290:R227C;ENSP00000376032:R227C;ENSP00000392164:R1579C	ENSP00000199940:R284C	R	+	1	0	MAP2	210282897	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.238000	0.51352	2.629000	0.89072	0.563000	0.77884	CGC		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		12	58	0	0	0	1	0	12	58				
KRAS	3845	broad.mit.edu	37	12	25368473	25368473	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:25368473T>C	ENST00000256078.4	-	5	535	c.472A>G	c.(472-474)Aca>Gca	p.T158A	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	158					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCACCAATGTATAAAAAGCA	0.353		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	0				NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(472-474)Aca>Gca		Kirsten rat sarcoma viral oncogene homolog							111.0	107.0	108.0					12																	25368473		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25368473T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.472A>G	12.37:g.25368473T>C	ENSP00000256078:p.Thr158Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Intron	p.T158A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		5	535	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		158					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.472A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067452	0.55539	.	.	ENSG00000133703	ENST00000256078	T	0.69435	-0.4	5.9	5.9	0.94986	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.16307	0.4	0.80722	D	1	B	0.14805	0.011	B	0.19666	0.026	T	0.47661	-0.9100	10	0.33141	T	0.24	.	15.5044	0.75725	0.0:0.0:0.0:1.0	.	158	P01116	RASK_HUMAN	A	158	ENSP00000256078:T158A	ENSP00000256078:T158A	T	-	1	0	KRAS	25259740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	2.254000	0.74563	0.482000	0.46254	ACA		0.353	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	83	0	0	0	1	0	6	83				
B3GALTL	145173	broad.mit.edu	37	13	31822041	31822041	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:31822041G>A	ENST00000343307.4	+	6	546	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	133					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTTCTGTGAAGAAGAGACAAG	0.333																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(397-399)Gaa>Aaa		beta 1,3-galactosyltransferase-like							49.0	47.0	47.0					13																	31822041		2203	4294	6497	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31822041G>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.397G>A	13.37:g.31822041G>A	ENSP00000343002:p.Glu133Lys						p.E133K	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	6	546	+		Lung SC(185;0.0257)	133					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.397G>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680335	0.88542	.	.	ENSG00000187676	ENST00000343307	T	0.63744	-0.06	5.72	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	M	0.83012	2.62	0.51482	D	0.99992	D	0.89917	1.0	D	0.83275	0.996	D	0.83526	0.0088	10	0.72032	D	0.01	-33.5389	14.4374	0.67290	0.0714:0.0:0.9286:0.0	.	133	Q6Y288	B3GLT_HUMAN	K	133	ENSP00000343002:E133K	ENSP00000343002:E133K	E	+	1	0	B3GALTL	30720041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.138000	0.71717	1.554000	0.49487	0.655000	0.94253	GAA		0.333	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		3	34	0	0	0	1	0	3	34				
CCDC65	85478	broad.mit.edu	37	12	49312494	49312494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312494G>C	ENST00000320516.4	+	6	1022	c.834G>C	c.(832-834)aaG>aaC	p.K278N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.K278N	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	278										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CAAAAGGCAAGATCATGATAC	0.433																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(832-834)aaG>aaC		coiled-coil domain containing 65							97.0	86.0	90.0					12																	49312494		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49312494G>C		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.834G>C	12.37:g.49312494G>C	ENSP00000312706:p.Lys278Asn					ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K278N	p.K278N			Q8IXS2	CCD65_HUMAN			6	1061	+			278					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.834G>C	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310869	0.60414	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.53206	1.1;0.63;1.11	4.72	1.82	0.25136	.	0.290858	0.35436	N	0.003205	T	0.58481	0.2125	L	0.57536	1.79	0.32247	N	0.571901	D	0.76494	0.999	D	0.68192	0.956	T	0.64935	-0.6290	10	0.52906	T	0.07	-30.6559	9.4659	0.38813	0.2627:0.0:0.7373:0.0	.	278	Q8IXS2	CCD65_HUMAN	N	278;175;278	ENSP00000266984:K278N;ENSP00000446569:K175N;ENSP00000312706:K278N	ENSP00000266984:K278N	K	+	3	2	CCDC65	47598761	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.191000	0.32138	0.683000	0.31428	0.655000	0.94253	AAG		0.433	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		5	68	0	0	0	1	0	5	68				
NUAK1	9891	broad.mit.edu	37	12	106464625	106464625	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:106464625G>A	ENST00000261402.2	-	6	2138	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.F253F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGAAACCATCGAAGGGCATTG	0.547																																						ENST00000261402.2																			2	Substitution - coding silent(2)	p.F253F(2)	large_intestine(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(757-759)ttC>ttT		NUAK family, SNF1-like kinase, 1							114.0	101.0	105.0					12																	106464625		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106464625G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.759C>T	12.37:g.106464625G>A							p.F253F	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			6	2138	-			253			Protein kinase.		A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.759C>T	CCDS31892.1																																																																																				0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		7	53	0	0	0	1	0	7	53				
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3004-3006)Gaa>Aaa		EF-hand calcium binding domain 6							250.0	219.0	230.0					22																	43985982		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43985982C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3004G>A	22.37:g.43985982C>T	ENSP00000262726:p.Glu1002Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	p.E1002K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			24	3257	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1002					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3004G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271387	0.40194	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.83335	-1.71;-1.71	4.73	3.7	0.42460	EF-hand-like domain (1);	0.249758	0.31577	N	0.007417	T	0.80166	0.4573	L	0.59436	1.845	0.09310	N	0.999999	D;P	0.61697	0.99;0.945	P;P	0.51170	0.661;0.536	T	0.69300	-0.5181	10	0.22109	T	0.4	-16.3336	4.7128	0.12880	0.1539:0.6109:0.1494:0.0857	.	850;1002	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	850;1002	ENSP00000379533:E850K;ENSP00000262726:E1002K	ENSP00000262726:E1002K	E	-	1	0	EFCAB6	42317315	0.031000	0.19500	0.053000	0.19242	0.027000	0.11550	0.602000	0.24134	2.346000	0.79739	0.555000	0.69702	GAA		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		9	104	0	0	0	1	0	9	104				
ZNF792	126375	broad.mit.edu	37	19	35449519	35449519	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:35449519T>C	ENST00000404801.1	-	4	1626	c.1240A>G	c.(1240-1242)Aga>Gga	p.R414G	ZNF792_ENST00000605484.1_Missense_Mutation_p.R347G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGTGAACTCTCCAATGTTTA	0.448																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1240-1242)Aga>Gga		zinc finger protein 792							72.0	70.0	71.0					19																	35449519		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449519T>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1240A>G	19.37:g.35449519T>C	ENSP00000385099:p.Arg414Gly					ZNF792_ENST00000605484.1_Missense_Mutation_p.R347G	p.R414G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1626	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		414					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1240A>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	t	16.50	3.141553	0.57044	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.77	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46268	0.1384	M	0.76328	2.33	0.24938	N	0.991876	D	0.89917	1.0	D	0.76575	0.988	T	0.19811	-1.0294	9	0.87932	D	0	.	7.3987	0.26952	0.0:0.0:0.2222:0.7778	.	414	Q3KQV3	ZN792_HUMAN	G	414;174	ENSP00000385099:R414G	ENSP00000368487:R174G	R	-	1	2	ZNF792	40141359	0.000000	0.05858	0.752000	0.31206	0.918000	0.54935	0.136000	0.15974	0.454000	0.26884	0.460000	0.39030	AGA		0.448	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		8	62	0	0	0	1	0	8	62				
ZNF468	90333	broad.mit.edu	37	19	53344521	53344521	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53344521C>A	ENST00000595646.1	-	4	1146	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.L289L|ZNF468_ENST00000396409.4_Silent_p.L289L			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	342					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(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGTTTTGCCAGATATGAAT	0.383																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1024-1026)ctG>ctT		zinc finger protein 468							122.0	126.0	124.0					19																	53344521		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344521C>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1026G>T	19.37:g.53344521C>A						ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Silent_p.L289L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L289L	p.L342L			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1146	-			342					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.1026G>T	CCDS33094.1																																																																																				0.383	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		11	157	1	0	3.86212e-05	1	4.12591e-05	11	157				
DMD	1756	broad.mit.edu	37	X	31164450	31164450	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:31164450T>C	ENST00000357033.4	-	76	11085	c.10879A>G	c.(10879-10881)Atg>Gtg	p.M3627V	DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V|DMD_ENST00000474231.1_Missense_Mutation_p.M1167V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3627					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGGAGCAGCATAGGCTGACTG	0.498																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10879-10881)Atg>Gtg		dystrophin							94.0	76.0	82.0					X																	31164450		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31164450T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10879A>G	X.37:g.31164450T>C	ENSP00000354923:p.Met3627Val					DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000474231.1_Missense_Mutation_p.M1167V	p.M3627V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			76	11085	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3627					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10879A>G	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.97|12.97	2.096270|2.096270	0.36952|0.36952	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.62788|.	2.24;3.95;0.0;0.0;3.88;3.94;3.82;3.91;2.21;3.89;2.26;2.3|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.44483|.	U|.	0.000442|.	T|T	0.28267|0.28267	0.0698|0.0698	N|N	0.08118|0.08118	0|0	0.24219|0.24219	N|N	0.995447|0.995447	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.22683|.	0.0;0.064;0.073;0.073;0.025;0.025;0.001;0.001;0.0;0.01;0.017;0.01;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.24541|.	0.0;0.002;0.008;0.008;0.009;0.009;0.001;0.002;0.002;0.003;0.008;0.054;0.001;0.0;0.0;0.0|.	T|T	0.21621|0.21621	-1.0240|-1.0240	10|5	0.27785|.	T|.	0.31|.	.|.	14.6539|14.6539	0.68820|0.68820	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	449;3619;3627;3623;2286;2283;1154;1167;1167;1057;1057;3504;546;559;546;559|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	V|C	3619;2286;2283;559;1310;3623;3627;1154;1057;3627;3504;1167;1057;559;1167;546;449|1355	ENSP00000367997:M559V;ENSP00000350765:M1310V;ENSP00000367948:M3623V;ENSP00000354923:M3627V;ENSP00000352894:M1154V;ENSP00000340057:M1057V;ENSP00000367979:M1167V;ENSP00000444119:M1057V;ENSP00000367974:M559V;ENSP00000417123:M1167V;ENSP00000354464:M546V;ENSP00000367951:M449V|.	ENSP00000340057:M1057V|.	M|Y	-|-	1|2	0|0	DMD|DMD	31074371|31074371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.286000|3.286000	0.51724|0.51724	2.037000|2.037000	0.60232|0.60232	0.477000|0.477000	0.44152|0.44152	ATG|TAT		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	58	0	0	0	1	0	5	58				
KMT2C	58508	broad.mit.edu	37	7	151884562	151884562	+	Splice_Site	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:151884562C>A	ENST00000262189.6	-	33	5012		c.e33-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTTTATCCCTGGGAAAAAA	0.313																																						ENST00000355193.2																			0											c.e33-1		lysine (K)-specific methyltransferase 2C							87.0	93.0	91.0					7																	151884562		2203	4300	6503	SO:0001630	splice_region_variant	58508							g.chr7:151884562C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4794-1G>T	7.37:g.151884562C>A						KMT2C_ENST00000262189.6_Splice_Site								33	5012	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37		CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592486	0.66219	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0219	0.97506	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151515495	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.806000	0.75195	2.798000	0.96311	0.579000	0.79373	.		0.313	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	11	93	1	0	4.68919e-08	1	5.12617e-08	11	93				
KIAA0922	23240	broad.mit.edu	37	4	154517420	154517420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:154517420C>T	ENST00000409663.3	+	20	2055	c.2003C>T	c.(2002-2004)tCt>tTt	p.S668F	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S669F|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	668						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGTACGCATTCTGAGGAATCC	0.418																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2005-2007)tCt>tTt		KIAA0922							206.0	181.0	189.0					4																	154517420		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154517420C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2003C>T	4.37:g.154517420C>T	ENSP00000386574:p.Ser668Phe					KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S668F	p.S669F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			20	2055	+	all_hematologic(180;0.093)	Renal(120;0.118)	668					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.2006C>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207632	0.39003	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.45;2.15;2.45;2.16	5.56	5.56	0.83823	.	0.724419	0.13905	N	0.354676	T	0.40067	0.1102	M	0.63843	1.955	0.09310	N	1	D;D;B	0.67145	0.996;0.989;0.176	P;P;B	0.59056	0.851;0.532;0.055	T	0.21484	-1.0244	10	0.51188	T	0.08	-5.122	13.8808	0.63682	0.1532:0.8468:0.0:0.0	.	585;669;668	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	F	668;585;669;446	ENSP00000386574:S668F;ENSP00000409663:S585F;ENSP00000386787:S669F;ENSP00000240487:S446F	ENSP00000240487:S446F	S	+	2	0	KIAA0922	154736870	0.001000	0.12720	0.607000	0.28956	0.365000	0.29674	1.181000	0.32017	2.630000	0.89119	0.591000	0.81541	TCT		0.418	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		11	157	0	0	0	1	0	11	157				
RASAL2	9462	broad.mit.edu	37	1	178414790	178414790	+	Silent	SNP	C	C	T	rs370544500		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:178414790C>T	ENST00000462775.1	+	7	1301	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	RASAL2_ENST00000448150.3_Silent_p.D522D|RASAL2_ENST00000367649.3_Silent_p.D540D	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	392	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATCTTCATGACGCACTGGGTA	0.388																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1564-1566)gaC>gaT		RAS protein activator like 2		T	,	1,4405		0,1,2202	99.0	82.0	88.0		1176,1620	-2.5	1.0	1		88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASAL2	NM_004841.3,NM_170692.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	392/1140,540/1281	178414790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178414790C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1176C>T	1.37:g.178414790C>T						RASAL2_ENST00000367649.3_Silent_p.D540D|RASAL2_ENST00000462775.1_Silent_p.D392D	p.D522D	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			9	2384	+			392					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.1566C>T	CCDS1322.1																																																																																				0.388	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		5	71	0	0	0	1	0	5	71				
PDCD11	22984	broad.mit.edu	37	10	105172995	105172995	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:105172995G>A	ENST00000369797.3	+	9	1195	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	367	S1 motif 4. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGAGCAGTGCTGGATGATG	0.572																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1099-1101)gtG>gtA		programmed cell death 11							105.0	97.0	100.0					10																	105172995		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172995G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1101G>A	10.37:g.105172995G>A							p.V367V	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1195	+		Colorectal(252;0.0747)|Breast(234;0.128)	367			S1 motif 4.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.1101G>A	CCDS31276.1																																																																																				0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			9	63	0	0	0	1	0	9	63				
SIN3A	25942	broad.mit.edu	37	15	75702243	75702243	+	Silent	SNP	C	C	T	rs142678572	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:75702243C>T	ENST00000394947.3	-	8	1565	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	SIN3A_ENST00000394949.4_Silent_p.P417P|SIN3A_ENST00000360439.4_Silent_p.P417P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGGCCTCTGCGGCTTGTTGT	0.498																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(1249-1251)ccG>ccA		SIN3 transcription regulator family member A		C	,,	1,4393	2.1+/-5.4	0,1,2196	127.0	124.0	125.0		1251,1251,1251	-9.9	0.6	15	dbSNP_134	125	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	SIN3A	NM_001145357.1,NM_001145358.1,NM_015477.2	,,	0,2,6489	TT,TC,CC		0.0116,0.0228,0.0154	,,	417/1274,417/1274,417/1274	75702243	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75702243C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1251G>A	15.37:g.75702243C>T						SIN3A_ENST00000360439.4_Silent_p.P417P|SIN3A_ENST00000394949.4_Silent_p.P417P	p.P417P	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			8	1565	-			417			Interaction with REST (By similarity).			Silent	SNP	ENST00000394947.3	37	c.1251G>A	CCDS10279.1																																																																																				0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		10	86	0	0	0	1	0	10	86				
STRADB	55437	broad.mit.edu	37	2	202342454	202342454	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202342454G>C	ENST00000194530.3	+	8	1026	c.661G>C	c.(661-663)Gat>Cat	p.D221H	STRADB_ENST00000392249.2_Missense_Mutation_p.D221H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GGCTGTGTATGATTTCCCACA	0.522																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(661-663)Gat>Cat		STE20-related kinase adaptor beta							125.0	123.0	124.0					2																	202342454		2203	4297	6500	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202342454G>C	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.661G>C	2.37:g.202342454G>C	ENSP00000194530:p.Asp221His					STRADB_ENST00000392249.2_Missense_Mutation_p.D221H	p.D221H	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			8	1026	+			221			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.661G>C	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779602	0.90195	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T;T	0.65364	-0.15;-0.15;-0.15	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048309	0.85682	D	0.000000	T	0.76905	0.4053	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.59889	0.865	T	0.78758	-0.2079	10	0.62326	D	0.03	.	19.1823	0.93628	0.0:0.0:1.0:0.0	.	221	Q9C0K7	STRAB_HUMAN	H	166;221;221;221;83	ENSP00000409552:D166H;ENSP00000194530:D221H;ENSP00000376080:D221H	ENSP00000194530:D221H	D	+	1	0	STRADB	202050699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.553000	0.86117	0.491000	0.48974	GAT		0.522	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		17	110	0	0	0	1	0	17	110				
NOTCH1	4851	broad.mit.edu	37	9	139396305	139396305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139396305G>A	ENST00000277541.6	-	30	5608	c.5533C>T	c.(5533-5535)Cag>Tag	p.Q1845*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1845					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCTGCTGAGTCCACTGC	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5533-5535)Cag>Tag		notch 1							29.0	35.0	33.0					9																	139396305		2088	4224	6312	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396305G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5533C>T	9.37:g.139396305G>A	ENSP00000277541:p.Gln1845*	HNSCC(8;0.001)					p.Q1845*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5608	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1845					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5533C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	46	12.818239	0.99698	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	15.9569	0.79893	0.0:0.0:1.0:0.0	.	.	.	.	X	1845	.	ENSP00000277541:Q1845X	Q	-	1	0	NOTCH1	138516126	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	9.480000	0.97931	2.037000	0.60232	0.492000	0.49549	CAG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	43	0	0	0	1	0	4	43				
ATP1B1	481	broad.mit.edu	37	1	169096464	169096464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:169096464G>A	ENST00000367816.1	+	5	914	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	ATP1B1_ENST00000367815.4_Missense_Mutation_p.V129M|ATP1B1_ENST00000499679.3_Missense_Mutation_p.V73M|ATP1B1_ENST00000367813.3_Missense_Mutation_p.V121M			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	129					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					ATTTTTAGATGTGCCCAGTGA	0.393																																						ENST00000367816.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(385-387)Gtg>Atg		ATPase, Na+/K+ transporting, beta 1 polypeptide							74.0	73.0	73.0					1																	169096464		2203	4300	6503	SO:0001583	missense	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169096464G>A	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.385G>A	1.37:g.169096464G>A	ENSP00000356790:p.Val129Met					ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367813.3_Missense_Mutation_p.V121M|ATP1B1_ENST00000367815.3_Missense_Mutation_p.V129M|ATP1B1_ENST00000499679.3_Missense_Mutation_p.V73M	p.V129M			P05026	AT1B1_HUMAN			5	914	+	all_hematologic(923;0.208)		129					Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	c.385G>A	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375670	0.24857	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.32272	1.48;1.48;1.47;1.46	6.02	-1.98	0.07480	.	1.029190	0.07614	N	0.925865	T	0.04634	0.0126	N	0.12746	0.255	0.27149	N	0.961459	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	9	0.30078	T	0.28	-21.2275	4.8982	0.13760	0.4848:0.0:0.272:0.2432	.	129	P05026	AT1B1_HUMAN	M	129;129;73;121	ENSP00000356790:V129M;ENSP00000356789:V129M;ENSP00000423450:V73M;ENSP00000356787:V121M	ENSP00000356787:V121M	V	+	1	0	ATP1B1	167363088	0.000000	0.05858	0.014000	0.15608	0.027000	0.11550	-0.547000	0.06055	-0.294000	0.08973	-0.119000	0.15052	GTG		0.393	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			6	69	0	0	0	1	0	6	69				
TBX20	57057	broad.mit.edu	37	7	35280555	35280555	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:35280555T>C	ENST00000408931.3	-	5	1275	c.749A>G	c.(748-750)gAa>gGa	p.E250G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	250					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTTCTAAATTCTTCAGACTT	0.398																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(748-750)gAa>gGa		T-box 20							109.0	100.0	103.0					7																	35280555		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35280555T>C	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.749A>G	7.37:g.35280555T>C	ENSP00000386170:p.Glu250Gly						p.E250G	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			5	1275	-			250					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.749A>G	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175547	0.57692	.	.	ENSG00000164532	ENST00000408931	D	0.89552	-2.53	5.72	5.72	0.89469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	L	0.39514	1.22	0.80722	D	1	D	0.56521	0.976	P	0.62298	0.9	D	0.88272	0.2930	10	0.21540	T	0.41	.	16.0129	0.80417	0.0:0.0:0.0:1.0	.	250	Q9UMR3	TBX20_HUMAN	G	250	ENSP00000386170:E250G	ENSP00000386170:E250G	E	-	2	0	TBX20	35247080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.988000	0.88194	2.184000	0.69523	0.482000	0.46254	GAA		0.398	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		5	46	0	0	0	1	0	5	46				
STT3B	201595	broad.mit.edu	37	3	31665334	31665334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:31665334G>A	ENST00000295770.2	+	11	1917	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	570					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGTAGTCCTGGCCTCATACAA	0.373																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1708-1710)Gcc>Acc		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							195.0	169.0	178.0					3																	31665334		2203	4300	6503	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31665334G>A	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1708G>A	3.37:g.31665334G>A	ENSP00000295770:p.Ala570Thr						p.A570T	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			11	1917	+			570					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.1708G>A	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031830	0.93575	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.75615	2.305	0.80722	D	1	P	0.48640	0.913	P	0.58172	0.834	T	0.73004	-0.4119	9	0.31617	T	0.26	-0.1555	19.7914	0.96458	0.0:0.0:1.0:0.0	.	570	Q8TCJ2	STT3B_HUMAN	T	570	.	ENSP00000295770:A570T	A	+	1	0	STT3B	31640338	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.992000	0.88273	2.759000	0.94783	0.561000	0.74099	GCC		0.373	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		8	90	0	0	0	1	0	8	90				
SKOR1	390598	broad.mit.edu	37	15	68118400	68118400	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:68118400C>T	ENST00000380035.2	+	2	292	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SKOR1_ENST00000554054.1_Silent_p.G50G|SKOR1_ENST00000554240.1_Silent_p.G39G|SKOR1_ENST00000341418.5_Silent_p.G264G|SKOR1_ENST00000389002.1_Silent_p.G69G			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	78					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ACCAGGTGGGCGAGACGTCGC	0.652																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(232-234)ggC>ggT		SKI family transcriptional corepressor 1							45.0	44.0	45.0					15																	68118400		2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118400C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.234C>T	15.37:g.68118400C>T						SKOR1_ENST00000554054.1_Silent_p.G50G|SKOR1_ENST00000389002.1_Silent_p.G69G|SKOR1_ENST00000554240.1_Silent_p.G39G|SKOR1_ENST00000341418.5_Silent_p.G264G	p.G78G			P84550	SKOR1_HUMAN			2	292	+			78					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.234C>T																																																																																					0.652	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		6	46	0	0	0	1	0	6	46				
SEC63	11231	broad.mit.edu	37	6	108246120	108246120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108246120C>T	ENST00000369002.4	-	3	420	c.241G>A	c.(241-243)Gca>Aca	p.A81T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	81					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCCCATCCTGCAAGCAGAACT	0.348																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(241-243)Gca>Aca		SEC63 homolog (S. cerevisiae)							124.0	121.0	122.0					6																	108246120		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108246120C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.241G>A	6.37:g.108246120C>T	ENSP00000357998:p.Ala81Thr						p.A81T	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	3	420	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	81					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.241G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375761	0.61735	.	.	ENSG00000025796	ENST00000369002;ENST00000429168	T;T	0.75477	-0.94;-0.11	5.63	5.63	0.86233	.	0.114978	0.64402	D	0.000010	T	0.46983	0.1421	N	0.24115	0.695	0.42066	D	0.991187	B	0.33413	0.411	B	0.27076	0.076	T	0.52495	-0.8568	10	0.33141	T	0.24	-17.5545	15.1859	0.73002	0.0:0.8595:0.1405:0.0	.	81	Q9UGP8	SEC63_HUMAN	T	81;25	ENSP00000357998:A81T;ENSP00000403144:A25T	ENSP00000357998:A81T	A	-	1	0	SEC63	108352813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.873000	0.56093	2.648000	0.89879	0.585000	0.79938	GCA		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		8	66	0	0	0	1	0	8	66				
OBSCN	84033	broad.mit.edu	37	1	228462329	228462329	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:228462329G>A	ENST00000422127.1	+	20	5784	c.5740G>A	c.(5740-5742)Ggc>Agc	p.G1914S	OBSCN_ENST00000570156.2_Missense_Mutation_p.G2289S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1914S|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.G761S|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1914	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGAGGGCGGCGAGGCCAC	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(6865-6867)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							36.0	51.0	46.0					1																	228462329		2127	4238	6365	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462329G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5740G>A	1.37:g.228462329G>A	ENSP00000409493:p.Gly1914Ser					OBSCN_ENST00000284548.11_Missense_Mutation_p.G1914S|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1914S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.G761S|OBSCN_ENST00000366707.4_5'UTR	p.G2289S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	6939	+		Prostate(94;0.0405)	1274			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.6865G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	4.894	0.166204	0.09339	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.55760	0.5;0.5;0.5	5.71	-11.0	0.00169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.340380	0.01446	N	0.015290	T	0.22475	0.0542	N	0.21324	0.655	0.18873	N	0.999983	B;P	0.44344	0.002;0.833	B;B	0.36766	0.003;0.232	T	0.51434	-0.8706	10	0.09338	T	0.73	.	0.2067	0.00151	0.2464:0.1842:0.2056:0.3638	.	1914;1914	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1914;1914;761	ENSP00000284548:G1914S;ENSP00000409493:G1914S;ENSP00000352613:G761S	ENSP00000284548:G1914S	G	+	1	0	OBSCN	226528952	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.332000	0.02670	-1.970000	0.01003	-0.376000	0.06991	GGC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	14	0	0	0	1	0	3	14				
PI4KA	5297	broad.mit.edu	37	22	21174109	21174109	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:21174109A>G	ENST00000572273.1	-	6	665	c.435T>C	c.(433-435)tcT>tcC	p.S145S	PI4KA_ENST00000255882.6_Silent_p.S203S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	145					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTGAGAGGAGAGACTCTTCCA	0.478																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(607-609)tcT>tcC		phosphatidylinositol 4-kinase, catalytic, alpha							183.0	161.0	168.0					22																	21174109		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21174109A>G	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.435T>C	22.37:g.21174109A>G						PI4KA_ENST00000572273.1_Silent_p.S145S	p.S203S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	695	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	145					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.609T>C																																																																																					0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		7	161	0	0	0	1	0	7	161				
ZNF135	7694	broad.mit.edu	37	19	58572993	58572993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58572993G>A	ENST00000313434.5	+	3	180	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ZNF135_ENST00000511556.1_Missense_Mutation_p.E27K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E39K|ZNF135_ENST00000439855.2_Missense_Mutation_p.E27K|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000401053.4_Missense_Mutation_p.E39K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCCAGGAGGAGTGGGGGCA	0.587																																						ENST00000401053.4																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(115-117)Gag>Aag		zinc finger protein 135							151.0	136.0	141.0					19																	58572993		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58572993G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.79G>A	19.37:g.58572993G>A	ENSP00000321406:p.Glu27Lys					ZNF135_ENST00000359978.6_Missense_Mutation_p.E39K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E27K|ZNF135_ENST00000439855.2_Missense_Mutation_p.E27K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E27K|ZNF135_ENST00000506786.1_5'UTR	p.E39K	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	2	118	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	27					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.115G>A		.	.	.	.	.	.	.	.	.	.	G	13.11	2.140238	0.37825	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	2.52	1.48	0.22813	Krueppel-associated box (4);	.	.	.	.	T	0.26810	0.0656	H	0.95004	3.61	0.23876	N	0.996597	B;B	0.31256	0.316;0.316	B;B	0.33521	0.165;0.165	T	0.25745	-1.0123	9	0.87932	D	0	.	7.105	0.25358	0.1461:0.0:0.8539:0.0	.	27;27	E9PEV2;P52742	.;ZN135_HUMAN	K	39;39;39;27;27;27	ENSP00000441410:E39K;ENSP00000369437:E39K;ENSP00000444828:E27K;ENSP00000321406:E27K;ENSP00000422074:E27K	ENSP00000321406:E27K	E	+	1	0	ZNF135	63264805	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	2.032000	0.41127	0.649000	0.30751	0.467000	0.42956	GAG		0.587	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		5	98	0	0	0	1	0	5	98				
L3MBTL3	84456	broad.mit.edu	37	6	130374062	130374062	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:130374062A>G	ENST00000529410.1	+	9	987	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S145G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S170G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	170					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTAAGTGTAGTCGGAAGAA	0.418																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(508-510)Agt>Ggt		l(3)mbt-like 3 (Drosophila)							104.0	93.0	97.0					6																	130374062		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130374062A>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.508A>G	6.37:g.130374062A>G	ENSP00000431962:p.Ser170Gly					L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S145G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S145G	p.S170G			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	9	987	+			170					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.508A>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329589	0.24167	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.44083	2.51;2.51;2.51;0.93;2.51;2.51;2.51	5.13	5.13	0.70059	.	0.346538	0.33980	N	0.004377	T	0.14141	0.0342	L	0.36672	1.1	0.31290	N	0.689509	B;B	0.28933	0.228;0.064	B;B	0.27796	0.083;0.031	T	0.09314	-1.0680	10	0.19590	T	0.45	.	8.9032	0.35507	0.9138:0.0:0.0862:0.0	.	145;170	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	G	170;145;170;170;145;145;170	ENSP00000431962:S170G;ENSP00000437185:S145G;ENSP00000354526:S170G;ENSP00000433257:S170G;ENSP00000357121:S145G;ENSP00000436706:S145G;ENSP00000357118:S170G	ENSP00000354526:S170G	S	+	1	0	L3MBTL3	130415755	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	2.486000	0.45259	2.068000	0.61886	0.460000	0.39030	AGT		0.418	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	30	0	0	0	1	0	7	30				
RTP3	83597	broad.mit.edu	37	3	46542332	46542332	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46542332C>G	ENST00000296142.3	+	2	1214	c.642C>G	c.(640-642)ttC>ttG	p.F214L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	214					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TAAGCATTTTCTGCTGTTGTG	0.408																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(640-642)ttC>ttG		receptor (chemosensory) transporter protein 3							66.0	66.0	66.0					3																	46542332		2202	4300	6502	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542332C>G	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.642C>G	3.37:g.46542332C>G	ENSP00000296142:p.Phe214Leu						p.F214L	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1214	+			214					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.642C>G	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.651926	0.00785	.	.	ENSG00000163825	ENST00000296142	T	0.16597	2.33	2.25	1.36	0.22044	.	5.989270	0.00447	N	0.000096	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.25433	-1.0132	10	0.02654	T	1	1.1948	4.3631	0.11211	0.0:0.6683:0.0:0.3317	.	214	Q9BQQ7	RTP3_HUMAN	L	214	ENSP00000296142:F214L	ENSP00000296142:F214L	F	+	3	2	RTP3	46517336	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	-0.620000	0.05565	0.512000	0.28257	0.462000	0.41574	TTC		0.408	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		8	103	0	0	0	1	0	8	103				
MRPS24	64951	broad.mit.edu	37	7	43906549	43906549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:43906549G>A	ENST00000317534.5	-	4	314	c.253C>T	c.(253-255)Cga>Tga	p.R85*	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	85					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCACCGTTCGCTCTGCGGCA	0.557																																						ENST00000317534.5																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(253-255)Cga>Tga		mitochondrial ribosomal protein S24							65.0	61.0	63.0					7																	43906549		2203	4300	6503	SO:0001587	stop_gained	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906549G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.253C>T	7.37:g.43906549G>A	ENSP00000318158:p.Arg85*					MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	p.R85*	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN			4	314	-			85					A4D1U9|P82668|Q96Q23|Q9P047	Nonsense_Mutation	SNP	ENST00000317534.5	37	c.253C>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666788	0.67814	.	.	ENSG00000062582	ENST00000317534	.	.	.	5.24	-4.79	0.03200	.	0.057888	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.0651	0.30657	0.1378:0.0:0.3509:0.5112	.	.	.	.	X	85	.	ENSP00000318158:R85X	R	-	1	2	MRPS24	43873074	1.000000	0.71417	0.283000	0.24790	0.917000	0.54804	1.580000	0.36547	-0.689000	0.05149	-0.136000	0.14681	CGA		0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		9	80	0	0	0	1	0	9	80				
OR2J2	26707	broad.mit.edu	37	6	29141556	29141556	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:29141556C>G	ENST00000377167.2	+	1	246	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATCATCATCCTGTCATACG	0.443																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(142-144)atC>atG		olfactory receptor, family 2, subfamily J, member 2							172.0	164.0	167.0					6																	29141556		2028	4215	6243	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141556C>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.144C>G	6.37:g.29141556C>G	ENSP00000366372:p.Ile48Met						p.I48M	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	246	+			48					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.144C>G	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	7.752	0.703476	0.15172	.	.	ENSG00000204700	ENST00000377167	T	0.01119	5.31	1.92	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	L	0.43554	1.36	0.09310	N	1	P	0.42556	0.783	B	0.41988	0.372	T	0.52756	-0.8533	9	0.56958	D	0.05	.	7.3249	0.26549	0.2621:0.7379:0.0:0.0	.	48	O76002	OR2J2_HUMAN	M	48	ENSP00000366372:I48M	ENSP00000366372:I48M	I	+	3	3	OR2J2	29249535	0.000000	0.05858	0.724000	0.30704	0.524000	0.34500	-1.686000	0.01929	1.366000	0.46076	0.205000	0.17691	ATC		0.443	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			9	164	0	0	0	1	0	9	164				
KCNH5	27133	broad.mit.edu	37	14	63174587	63174587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174587G>T	ENST00000322893.7	-	11	2874	c.2606C>A	c.(2605-2607)aCa>aAa	p.T869K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	869					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCACTTTTTGTAATTCCACT	0.498																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2605-2607)aCa>aAa		potassium voltage-gated channel, subfamily H (eag-related), member 5							139.0	125.0	130.0					14																	63174587		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174587G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2606C>A	14.37:g.63174587G>T	ENSP00000321427:p.Thr869Lys					KCNH5_ENST00000420622.2_3'UTR	p.T869K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2874	-			869					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2606C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068980	0.76301	.	.	ENSG00000140015	ENST00000322893	D	0.99220	-5.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	L	0.52573	1.65	0.80722	D	1	D	0.59767	0.986	P	0.54629	0.757	D	0.98710	1.0704	10	0.18276	T	0.48	.	19.4372	0.94801	0.0:0.0:1.0:0.0	.	869	Q8NCM2	KCNH5_HUMAN	K	869	ENSP00000321427:T869K	ENSP00000321427:T869K	T	-	2	0	KCNH5	62244340	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.611000	0.98342	2.828000	0.97474	0.650000	0.86243	ACA		0.498	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		7	101	1	0	0.00307968	1	0.00314674	7	101				
GAL3ST4	79690	broad.mit.edu	37	7	99758482	99758482	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:99758482G>A	ENST00000360039.4	-	4	922	c.530C>T	c.(529-531)tCa>tTa	p.S177L	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S115L|GAL3ST4_ENST00000411994.1_Nonsense_Mutation_p.Q76*|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S177L|GAL3ST4_ENST00000423751.1_Nonsense_Mutation_p.Q76*	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	177					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGGAAGGCTGATGAGGTGGA	0.552																																						ENST00000423751.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(226-228)Cag>Tag		galactose-3-O-sulfotransferase 4							58.0	57.0	58.0					7																	99758482		2203	4299	6502	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758482G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.530C>T	7.37:g.99758482G>A	ENSP00000353142:p.Ser177Leu					GAL3ST4_ENST00000360039.4_Missense_Mutation_p.S177L|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S177L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S115L|GAL3ST4_ENST00000411994.1_Nonsense_Mutation_p.Q76*	p.Q76*			Q96RP7	G3ST4_HUMAN			3	481	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		234					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Nonsense_Mutation	SNP	ENST00000360039.4	37	c.226C>T	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.276492|5.276492	0.95459|0.95459	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.13778	.|2.56;2.56;2.56	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.081663	.|0.51477	.|U	.|0.000092	.|T	.|0.24586	.|0.0596	L|L	0.38531|0.38531	1.155|1.155	0.48632|0.48632	D|D	0.999689|0.999689	.|D;B	.|0.69078	.|0.997;0.071	.|D;B	.|0.80764	.|0.994;0.038	.|T	.|0.02042	.|-1.1224	.|10	0.87932|0.07482	D|T	0|0.82	-5.3783|-5.3783	16.5468|16.5468	0.84449|0.84449	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;177	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	X|L	76|177;177;115	.|ENSP00000400451:S177L;ENSP00000353142:S177L;ENSP00000398304:S115L	ENSP00000414733:Q76X|ENSP00000353142:S177L	Q|S	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596418|99596418	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.987000|0.987000	0.75469|0.75469	5.122000|5.122000	0.64697|0.64697	2.518000|2.518000	0.84900|0.84900	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.552	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		6	85	0	0	0	1	0	6	85				
PITPNM1	9600	broad.mit.edu	37	11	67262398	67262398	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67262398C>T	ENST00000534749.1	-	17	2849	c.2661G>A	c.(2659-2661)gcG>gcA	p.A887A	PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000356404.3_Silent_p.A887A|PITPNM1_ENST00000436757.2_Silent_p.A886A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	887					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCGCATTCCGCCAGCTGTG	0.677																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2659-2661)gcG>gcA		phosphatidylinositol transfer protein, membrane-associated 1							90.0	82.0	85.0					11																	67262398		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262398C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2661G>A	11.37:g.67262398C>T						PITPNM1_ENST00000534749.1_Silent_p.A887A|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.A886A	p.A887A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			18	2886	-			887					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2661G>A	CCDS31620.1																																																																																				0.677	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		13	60	0	0	0	1	0	13	60				
ATP10A	57194	broad.mit.edu	37	15	25925395	25925395	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:25925395T>A	ENST00000356865.6	-	20	3850	c.3739A>T	c.(3739-3741)Att>Ttt	p.I1247F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1247					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCATTGTAAATCAAAGCCACG	0.478																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3739-3741)Att>Ttt		ATPase, class V, type 10A							149.0	132.0	138.0					15																	25925395		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925395T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3739A>T	15.37:g.25925395T>A	ENSP00000349325:p.Ile1247Phe						p.I1247F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	20	3850	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1247					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3739A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832162	0.50845	.	.	ENSG00000206190	ENST00000356865	T	0.72725	-0.68	5.07	-3.9	0.04181	.	0.432974	0.26244	N	0.025493	T	0.59865	0.2225	L	0.51422	1.61	0.37927	D	0.931897	B	0.21821	0.061	B	0.23275	0.045	T	0.49283	-0.8956	10	0.42905	T	0.14	-2.7442	13.3229	0.60442	0.0:0.7228:0.1279:0.1493	.	1247	O60312	AT10A_HUMAN	F	1247	ENSP00000349325:I1247F	ENSP00000349325:I1247F	I	-	1	0	ATP10A	23476488	0.997000	0.39634	0.834000	0.33040	0.752000	0.42762	0.487000	0.22356	-0.535000	0.06307	-0.256000	0.11100	ATT		0.478	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	99	0	0	0	1	0	10	99				
GNB2L1	10399	broad.mit.edu	37	5	180666085	180666085	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:180666085G>A	ENST00000512805.1	-	5	1026	c.618C>T	c.(616-618)ctC>ctT	p.L206L	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Silent_p.L162L|GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000511566.1_Silent_p.L206L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000505461.1_5'Flank|SNORD96A_ENST00000606577.1_RNA	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	206					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CAGAAGCACAGAGGGATCCAT	0.517																																						ENST00000512805.1																			0				lung(3)|skin(2)	5						c.(616-618)ctC>ctT		guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1							245.0	209.0	221.0					5																	180666085		2203	4300	6503	SO:0001819	synonymous_variant	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180666085G>A	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.618C>T	5.37:g.180666085G>A						GNB2L1_ENST00000511566.1_Silent_p.L206L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000376817.4_Silent_p.L162L|GNB2L1_ENST00000504726.1_Intron	p.L206L	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	5	1026	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	206					B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Silent	SNP	ENST00000512805.1	37	c.618C>T	CCDS34324.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293108	0.23564	.	.	ENSG00000204628	ENST00000507756;ENST00000509535	.	.	.	5.55	1.59	0.23543	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51387	-0.8712	4	.	.	.	-20.4511	10.4613	0.44581	0.0777:0.5438:0.3785:0.0	.	.	.	.	F	137;64	.	.	S	-	2	0	GNB2L1	180598691	0.997000	0.39634	0.998000	0.56505	0.997000	0.91878	0.476000	0.22180	0.012000	0.14892	0.591000	0.81541	TCT		0.517	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		7	141	0	0	0	1	0	7	141				
KCNH5	27133	broad.mit.edu	37	14	63174448	63174448	+	Silent	SNP	G	G	A	rs138093802		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:63174448G>A	ENST00000322893.7	-	11	3013	c.2745C>T	c.(2743-2745)caC>caT	p.H915H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	915	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTGAGTTCGTGTTTGACTT	0.512																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2743-2745)caC>caT		potassium voltage-gated channel, subfamily H (eag-related), member 5		G	,	0,4406		0,0,2203	142.0	131.0	135.0		2745,	-10.0	0.0	14	dbSNP_134	135	1,8599		0,1,4299	no	coding-synonymous,utr-3	KCNH5	NM_139318.3,NM_172375.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	915/989,	63174448	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174448G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2745C>T	14.37:g.63174448G>A						KCNH5_ENST00000420622.2_3'UTR	p.H915H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3013	-			915			CAD (involved in subunit assembly) (By similarity).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2745C>T	CCDS9756.1																																																																																				0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		13	142	0	0	0	1	0	13	142				
CPA2	1358	broad.mit.edu	37	7	129910535	129910535	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:129910535C>G	ENST00000222481.4	+	4	346	c.291C>G	c.(289-291)gtC>gtG	p.V97V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	97					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TATCTTAGGTCCTGTTGGACA	0.423																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(289-291)gtC>gtG		carboxypeptidase A2 (pancreatic)							99.0	97.0	98.0					7																	129910535		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129910535C>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.291C>G	7.37:g.129910535C>G							p.V97V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			4	346	+	Melanoma(18;0.0435)		97					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.291C>G	CCDS5817.2																																																																																				0.423	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		10	79	0	0	0	1	0	10	79				
NCAM1	4684	broad.mit.edu	37	11	113111552	113111552	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:113111552G>A	ENST00000401611.2	+	16	1882	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000316851.7_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTCTCCACCAGATAGTGAGTA	0.443																																						ENST00000401611.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1882-1884)Gat>Aat		neural cell adhesion molecule 1							237.0	225.0	229.0					11																	113111552		1972	4156	6128	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113111552G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000401611.2:c.1882G>A	11.37:g.113111552G>A	ENSP00000384055:p.Asp628Asn					NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000533760.1_Intron	p.D628N			P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	16	1882	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	353			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000401611.2	37	c.1882G>A		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680890	0.47886	.	.	ENSG00000149294	ENST00000401611;ENST00000433634	T	0.68331	-0.32	5.71	3.79	0.43588	.	.	.	.	.	T	0.56247	0.1972	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.45160	-0.9280	8	0.35671	T	0.21	.	12.7494	0.57300	0.0:0.3158:0.6842:0.0	.	619	P13591-3	.	N	628;63	ENSP00000384055:D628N	ENSP00000384055:D628N	D	+	1	0	NCAM1	112616762	0.998000	0.40836	0.903000	0.35520	0.983000	0.72400	1.608000	0.36847	0.727000	0.32360	0.655000	0.94253	GAT		0.443	NCAM1-202	KNOWN	basic	protein_coding	protein_coding		NM_000615		11	148	0	0	0	1	0	11	148				
USP24	23358	broad.mit.edu	37	1	55561055	55561055	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:55561055C>T	ENST00000294383.6	-	51	6075	c.6076G>A	c.(6076-6078)Gat>Aat	p.D2026N	USP24_ENST00000407756.1_Missense_Mutation_p.D1866N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2026	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CGGCGCACATCAGTGTATGGG	0.388																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6076-6078)Gat>Aat		ubiquitin specific peptidase 24							69.0	69.0	69.0					1																	55561055		2192	4292	6484	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55561055C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6076G>A	1.37:g.55561055C>T	ENSP00000294383:p.Asp2026Asn					USP24_ENST00000407756.1_Missense_Mutation_p.D1866N	p.D2026N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			51	6075	-			2026					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6076G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300300	0.81136	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02280	4.36;4.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	L	0.33093	0.98	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.45026	-0.9289	10	0.33940	T	0.23	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1866	B7WPF4	.	N	2026;1866	ENSP00000294383:D2026N;ENSP00000385700:D1866N	ENSP00000294383:D2026N	D	-	1	0	USP24	55333643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.868000	0.98415	0.557000	0.71058	GAT		0.388	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			3	26	0	0	0	1	0	3	26				
ADCY8	114	broad.mit.edu	37	8	131792719	131792719	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:131792719A>G	ENST00000286355.5	-	18	5765	c.3673T>C	c.(3673-3675)Tac>Cac	p.Y1225H	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1225					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCCGGTTGTAATGACCCTTG	0.517										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3673-3675)Tac>Cac		adenylate cyclase 8 (brain)							160.0	147.0	152.0					8																	131792719		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792719A>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3673T>C	8.37:g.131792719A>G	ENSP00000286355:p.Tyr1225His	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H	p.Y1225H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5765	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1225						Missense_Mutation	SNP	ENST00000286355.5	37	c.3673T>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017915	0.54576	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79454	-1.27;-1.23	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.77718	0.4172	N	0.14661	0.345	0.36669	D	0.878368	D;D	0.65815	0.96;0.995	P;D	0.70487	0.528;0.969	T	0.81653	-0.0835	10	0.39692	T	0.17	.	13.6778	0.62465	1.0:0.0:0.0:0.0	.	1094;1225	E7EVL1;P40145	.;ADCY8_HUMAN	H	1225;1094	ENSP00000286355:Y1225H;ENSP00000367161:Y1094H	ENSP00000286355:Y1225H	Y	-	1	0	ADCY8	131861901	1.000000	0.71417	0.996000	0.52242	0.750000	0.42670	8.695000	0.91298	2.172000	0.68678	0.533000	0.62120	TAC		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			6	70	0	0	0	1	0	6	70				
STAG3L3	442578	broad.mit.edu	37	7	72470019	72470019	+	RNA	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72470019C>T	ENST00000428423.1	-	0	582							P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3							nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				AGTAATCTGACGGCCTCCACT	0.507																																						ENST00000308103.6																			0				breast(1)|lung(1)|stomach(1)	3						c.(322-324)Gtc>Atc									192.0	152.0	165.0					7																	72470019		2202	4297	6499			442578					nucleus	binding	g.chr7:72470019C>T			7q11.23	2014-02-20			ENSG00000174353	ENSG00000174353			33845	other	unknown							Standard	NR_040582		Approved		uc022afp.1	P0CL85	OTTHUMG00000157064		7.37:g.72470019C>T						STAG3L3_ENST00000569650.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000436857.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000426587.1_Missense_Mutation_p.V54I|STAG3L3_ENST00000448173.1_Missense_Mutation_p.V108I	p.V108I			P0CL85	ST3L3_HUMAN			6	705	-		Lung NSC(55;0.197)	108					A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Missense_Mutation	SNP	ENST00000428423.1	37	c.322G>A		.	.	.	.	.	.	.	.	.	.	c	0.010	-1.756160	0.00657	.	.	ENSG00000174353	ENST00000436857;ENST00000308103;ENST00000426587;ENST00000448173	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	.	.	.	Armadillo-like helical (1);Armadillo-type fold (1);	0.250149	0.28109	N	0.016572	T	0.09774	0.0240	.	.	.	0.31257	N	0.69335	B	0.15141	0.012	B	0.15870	0.014	T	0.28235	-1.0050	8	0.06236	T	0.91	.	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	108	P0CL85	ST3L3_HUMAN	I	108;108;54;108	ENSP00000406098:V108I;ENSP00000312329:V108I;ENSP00000393385:V54I;ENSP00000401427:V108I	ENSP00000312329:V108I	V	-	1	0	STAG3L3	72107955	0.985000	0.35326	0.362000	0.25862	0.201000	0.24016	0.817000	0.27281	0.064000	0.16427	0.064000	0.15345	GTC		0.507	STAG3L3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347342.1	NM_001013739		10	149	0	0	0	1	0	10	149				
PI3	5266	broad.mit.edu	37	20	43804666	43804666	+	Missense_Mutation	SNP	C	C	T	rs541768512		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43804666C>T	ENST00000243924.3	+	2	291	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	82	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TATCTTGATCCGGTGCGCCAT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19723	0.0		0.0	False		,,,				2504	0.0					ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(244-246)Cgg>Tgg		peptidase inhibitor 3, skin-derived							126.0	110.0	116.0					20																	43804666		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804666C>T	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.244C>T	20.37:g.43804666C>T	ENSP00000243924:p.Arg82Trp						p.R82W	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	291	+		Myeloproliferative disorder(115;0.0122)	82			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.244C>T	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809305	0.50421	.	.	ENSG00000124102	ENST00000243924	T	0.72505	-0.66	4.49	-1.4	0.08968	Whey acidic protein, 4-disulphide core (5);	0.662303	0.12723	N	0.444547	T	0.79347	0.4430	M	0.87971	2.92	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.67273	-0.5712	10	0.72032	D	0.01	.	2.9201	0.05766	0.2798:0.3327:0.3:0.0875	.	82	P19957	ELAF_HUMAN	W	82	ENSP00000243924:R82W	ENSP00000243924:R82W	R	+	1	2	PI3	43238080	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.285000	0.08410	-0.309000	0.08779	0.650000	0.86243	CGG		0.507	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		10	84	0	0	0	1	0	10	84				
CDH26	60437	broad.mit.edu	37	20	58587630	58587630	+	Intron	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:58587630C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y|CDH26_ENST00000348616.4_Missense_Mutation_p.H782Y			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTACCTACCTCACGTCTACAG	0.552																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2344-2346)Cac>Tac		cadherin 26							101.0	92.0	95.0					20																	58587630		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587630C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5788C>T	20.37:g.58587630C>T						CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR	p.H782Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2644	+	all_lung(29;0.00963)		0					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2344C>T		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755093	0.31046	.	.	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;T;T	0.78246	0.1;-1.16;-1.16	3.8	-0.503	0.12000	.	.	.	.	.	T	0.78916	0.4359	.	.	.	0.09310	N	1	D;D;P	0.64830	0.987;0.994;0.924	P;P;P	0.59889	0.696;0.865;0.461	T	0.66217	-0.5979	8	0.72032	D	0.01	.	0.8941	0.01260	0.1891:0.4108:0.1841:0.216	.	74;115;782	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	Y	782;74;115	ENSP00000339390:H782Y;ENSP00000244049:H74Y;ENSP00000310845:H115Y	ENSP00000244049:H74Y	H	+	1	0	CDH26	58021025	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.055000	0.11807	-0.045000	0.13468	0.460000	0.39030	CAC		0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	65	0	0	0	1	0	5	65				
CTBP2	1488	broad.mit.edu	37	10	126683151	126683151	+	Missense_Mutation	SNP	C	C	T	rs76203768		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:126683151C>T	ENST00000337195.5	-	7	1066	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	CTBP2_ENST00000411419.2_Missense_Mutation_p.V223M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V223M|CTBP2_ENST00000531469.1_Missense_Mutation_p.V223M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V291M|CTBP2_ENST00000309035.6_Missense_Mutation_p.V763M	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	223					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACCCTCTGCACGCCCAGGGAC	0.547																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2287-2289)Gtg>Atg		C-terminal binding protein 2							77.0	74.0	75.0					10																	126683151		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126683151C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.667G>A	10.37:g.126683151C>T	ENSP00000338615:p.Val223Met					CTBP2_ENST00000531469.1_Missense_Mutation_p.V223M|CTBP2_ENST00000411419.2_Missense_Mutation_p.V223M|CTBP2_ENST00000337195.5_Missense_Mutation_p.V223M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V291M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V223M	p.V763M	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	5	2417	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	223					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2287G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704021	0.68615	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.42	5.42	0.78866	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	L	0.59912	1.85	0.58432	D	0.999998	P;D;P	0.61697	0.727;0.99;0.832	B;P;B	0.51385	0.185;0.668;0.251	D	0.86340	0.1704	10	0.87932	D	0	.	19.2243	0.93812	0.0:1.0:0.0:0.0	.	223;763;291	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	M	223;763;291;223;223;223	ENSP00000338615:V223M;ENSP00000311825:V763M;ENSP00000357816:V291M;ENSP00000434630:V223M;ENSP00000436285:V223M;ENSP00000410474:V223M	ENSP00000311825:V763M	V	-	1	0	CTBP2	126673141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.809000	0.55606	2.539000	0.85634	0.561000	0.74099	GTG		0.547	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		9	63	0	0	0	1	0	9	63				
TPCN1	53373	broad.mit.edu	37	12	113714796	113714796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113714796C>T	ENST00000335509.6	+	11	1329	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	TPCN1_ENST00000550785.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	339					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						ACTGCACAAGCGAACCGCTAT	0.567																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1231-1233)Cga>Tga		two pore segment channel 1							211.0	205.0	207.0					12																	113714796		2203	4300	6503	SO:0001587	stop_gained	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113714796C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1015C>T	12.37:g.113714796C>T	ENSP00000335300:p.Arg339*					TPCN1_ENST00000335509.6_Nonsense_Mutation_p.R339*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271*	p.R411*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			12	1400	+			339					A7E258|Q86XS9|Q8NC20	Nonsense_Mutation	SNP	ENST00000335509.6	37	c.1231C>T	CCDS31908.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.066334|7.066334	0.98040|0.98040	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000546781|ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	.|.	.|.	.|.	5.56|5.56	4.66|4.66	0.58398|0.58398	.|.	.|0.128118	.|0.53938	.|D	.|0.000046	T|.	0.36936|.	0.0985|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34675|.	-0.9819|.	3|.	.|0.02654	.|T	.|1	-8.0492|-8.0492	15.3996|15.3996	0.74827|0.74827	0.1405:0.8595:0.0:0.0|0.1405:0.8595:0.0:0.0	.|.	.|.	.|.	.|.	V|X	25|339;411;411;271	.|.	.|ENSP00000335300:R339X	A|R	+|+	2|1	0|2	TPCN1|TPCN1	112199179|112199179	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.281000|0.281000	0.26958|0.26958	4.092000|4.092000	0.57707|0.57707	1.327000|1.327000	0.45338|0.45338	0.609000|0.609000	0.83330|0.83330	GCG|CGA		0.567	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		18	262	0	0	0	1	0	18	262				
RUSC2	9853	broad.mit.edu	37	9	35546558	35546558	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35546558G>A	ENST00000455600.1	+	2	609	c.40G>A	c.(40-42)Gtt>Att	p.V14I	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	14						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACCCTCATCGTTCATCACAT	0.582																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(40-42)Gtt>Att		RUN and SH3 domain containing 2							94.0	89.0	91.0					9																	35546558		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35546558G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.40G>A	9.37:g.35546558G>A	ENSP00000393922:p.Val14Ile					RUSC2_ENST00000468041.1_3'UTR	p.V14I	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	609	+			14					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.40G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410726	0.83340	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.37915	1.17;1.17	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	L	0.34521	1.04	0.51767	D	0.999936	D	0.89917	1.0	D	0.76575	0.988	T	0.50841	-0.8780	10	0.87932	D	0	-18.851	19.6529	0.95825	0.0:0.0:1.0:0.0	.	14	Q8N2Y8	RUSC2_HUMAN	I	14	ENSP00000355177:V14I;ENSP00000393922:V14I	ENSP00000355177:V14I	V	+	1	0	RUSC2	35536558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.359000	0.97115	2.890000	0.99128	0.655000	0.94253	GTT		0.582	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	118	0	0	0	1	0	9	118				
VEGFC	7424	broad.mit.edu	37	4	177650751	177650751	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:177650751G>C	ENST00000280193.2	-	2	712	c.297C>G	c.(295-297)ctC>ctG	p.L99L	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	99					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCCTTGAGTTGAGGTTGGCCT	0.373																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(295-297)ctC>ctG		vascular endothelial growth factor C							157.0	144.0	148.0					4																	177650751		1910	4124	6034	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650751G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.297C>G	4.37:g.177650751G>C							p.L99L	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	712	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	99					B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.297C>G	CCDS43285.1																																																																																				0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		6	67	0	0	0	1	0	6	67				
SELO	83642	broad.mit.edu	37	22	50647025	50647025	+	Silent	SNP	C	C	T	rs371385114		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:50647025C>T	ENST00000380903.2	+	3	877	c.819C>T	c.(817-819)agC>agT	p.S273S	RP3-402G11.27_ENST00000610050.1_RNA|SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		273													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAGGCCCCAGCGTGGGGAGGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		15473	0.0		0.0	False		,,,				2504	0.001					ENST00000380903.2																			0											c.(817-819)agC>agT				C		0,4104		0,0,2052	76.0	85.0	82.0		819	-9.1	0.3	22		82	1,8391		0,1,4195	no	coding-synonymous	SELO	NM_031454.1		0,1,6247	TT,TC,CC		0.0119,0.0,0.0080		273/670	50647025	1,12495	2052	4196	6248	SO:0001819	synonymous_variant	83642							g.chr22:50647025C>T																												ENST00000380903.2:c.819C>T	22.37:g.50647025C>T						RP3-402G11.5_ENST00000492092.1_3'UTR	p.S273S	NM_031454.1	NP_113642.1					3	877	+								Q2TAL2|Q5JZ81|Q8WUI0	Silent	SNP	ENST00000380903.2	37	c.819C>T	CCDS43034.1																																																																																				0.567	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			7	69	0	0	0	1	0	7	69				
CERS5	91012	broad.mit.edu	37	12	50536932	50536932	+	Missense_Mutation	SNP	C	C	T	rs146511812		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:50536932C>T	ENST00000317551.6	-	3	483	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CERS5_ENST00000422340.2_Missense_Mutation_p.R62Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	120					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTGGATTTTTCGGACATTCCA	0.493																																						ENST00000317551.6																			0											c.(358-360)cGa>cAa		ceramide synthase 5		C	GLN/ARG	0,4406		0,0,2203	176.0	182.0	180.0		359	3.6	1.0	12	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CERS5	NM_147190.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	120/393	50536932	2,13004	2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50536932C>T		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.359G>A	12.37:g.50536932C>T	ENSP00000325485:p.Arg120Gln					CERS5_ENST00000422340.2_Missense_Mutation_p.R62Q	p.R120Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN			3	483	-			120					B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.359G>A	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.033215|5.033215	0.93575|0.93575	0.0|0.0	2.33E-4|2.33E-4	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96651	.|-4.08;-4.08;-4.08	4.52|4.52	3.63|3.63	0.41609|0.41609	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.97736|0.97736	0.9257|0.9257	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.994;1.0	.|D;P;D	.|0.81914	.|0.995;0.903;0.994	D|D	0.97198|0.97198	0.9862|0.9862	6|10	0.10377|0.34782	T|T	0.69|0.22	-1.3597|-1.3597	13.2248|13.2248	0.59909|0.59909	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	.|62;120;39	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	K|Q	55|39;120;62	.|ENSP00000447556:R39Q;ENSP00000325485:R120Q;ENSP00000389050:R62Q	ENSP00000407896:E85K|ENSP00000325485:R120Q	E|R	-|-	1|2	0|0	CERS5|CERS5	48823199|48823199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	5.915000|5.915000	0.69973|0.69973	1.278000|1.278000	0.44430|0.44430	-0.128000|-0.128000	0.14901|0.14901	GAA|CGA		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		16	230	0	0	0	1	0	16	230				
ELK3	2004	broad.mit.edu	37	12	96641121	96641121	+	Missense_Mutation	SNP	C	C	T	rs118124881	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:96641121C>T	ENST00000228741.3	+	3	937	c.611C>T	c.(610-612)aCg>aTg	p.T204M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	204					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTGCCTTCCACGTCAGAGGCT	0.587													C|||	6	0.00119808	0.0	0.0	5008	,	,		17768	0.0		0.004	False		,,,				2504	0.002					ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(610-612)aCg>aTg		ELK3, ETS-domain protein (SRF accessory protein 2)		C	MET/THR	7,4399	11.4+/-27.6	0,7,2196	72.0	74.0	74.0		611	5.7	1.0	12	dbSNP_132	74	32,8568	22.2+/-67.0	0,32,4268	yes	missense	ELK3	NM_005230.2	81	0,39,6464	TT,TC,CC		0.3721,0.1589,0.2999	probably-damaging	204/408	96641121	39,12967	2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641121C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.611C>T	12.37:g.96641121C>T	ENSP00000228741:p.Thr204Met					ELK3_ENST00000552142.1_Intron	p.T204M	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	937	+	all_cancers(2;0.00173)		204					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.611C>T	CCDS9060.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	19.08	3.757536	0.69648	0.001589	0.003721	ENSG00000111145	ENST00000228741	T	0.33216	1.42	5.65	5.65	0.86999	.	0.258863	0.46442	D	0.000296	T	0.30293	0.0760	M	0.64997	1.995	0.80722	D	1	D	0.60575	0.988	B	0.43301	0.415	T	0.29671	-1.0004	10	0.66056	D	0.02	.	19.7205	0.96142	0.0:1.0:0.0:0.0	.	204	P41970	ELK3_HUMAN	M	204	ENSP00000228741:T204M	ENSP00000228741:T204M	T	+	2	0	ELK3	95165252	1.000000	0.71417	0.955000	0.39395	0.822000	0.46500	5.232000	0.65332	2.671000	0.90904	0.462000	0.41574	ACG		0.587	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		10	100	0	0	0	1	0	10	100				
MROH2B	133558	broad.mit.edu	37	5	41019061	41019061	+	Missense_Mutation	SNP	C	C	T	rs199943039		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:41019061C>T	ENST00000399564.4	-	25	2951	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	834																	CAGCAGCCTCCGAATATTCTC	0.458																																						ENST00000399564.4																			0											c.(2500-2502)cGg>cAg		maestro heat-like repeat family member 2B							85.0	83.0	84.0					5																	41019061		1946	4131	6077	SO:0001583	missense	133558							g.chr5:41019061C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2501G>A	5.37:g.41019061C>T	ENSP00000382476:p.Arg834Gln					MROH2B_ENST00000506092.2_Missense_Mutation_p.R389Q	p.R834Q	NM_173489.4	NP_775760.3					25	2951	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2501G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945791	0.73672	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05025	3.51;3.51	6.02	5.15	0.70609	Armadillo-type fold (1);	0.000000	0.53938	D	0.000054	T	0.12902	0.0313	L	0.41236	1.265	0.38990	D	0.959128	D	0.89917	1.0	D	0.64687	0.928	T	0.07443	-1.0772	10	0.22109	T	0.4	.	10.2047	0.43105	0.0:0.9126:0.0:0.0874	.	834	Q7Z745	HTRB2_HUMAN	Q	389;539;834	ENSP00000441504:R389Q;ENSP00000382476:R834Q	ENSP00000296803:R539Q	R	-	2	0	HEATR7B2	41054818	0.962000	0.33011	0.996000	0.52242	0.885000	0.51271	2.064000	0.41432	2.865000	0.98341	0.655000	0.94253	CGG		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	41	0	0	0	1	0	7	41				
RECQL5	9400	broad.mit.edu	37	17	73625900	73625900	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73625900G>C	ENST00000317905.5	-	15	1994	c.1835C>G	c.(1834-1836)tCc>tGc	p.S612C	RECQL5_ENST00000423245.2_Missense_Mutation_p.S585C|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	612	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCATCCTTGGAGGCTCTGTG	0.622								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1834-1836)tCc>tGc	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							57.0	64.0	62.0					17																	73625900		2070	4202	6272	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625900G>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1835C>G	17.37:g.73625900G>C	ENSP00000317636:p.Ser612Cys					RECQL5_ENST00000423245.2_Missense_Mutation_p.S585C|RECQL5_ENST00000443199.2_5'UTR	p.S612C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1994	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		612					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1835C>G	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283932	0.40394	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.59224	0.28	5.69	5.69	0.88448	.	0.957849	0.08659	N	0.912670	T	0.74199	0.3685	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.64144	0.922;0.922	T	0.68096	-0.5499	10	0.72032	D	0.01	-12.5834	16.5238	0.84324	0.0:0.0:1.0:0.0	.	612;585	O94762;Q6P4G0	RECQ5_HUMAN;.	C	207;612;612	ENSP00000317636:S612C	ENSP00000317636:S612C	S	-	2	0	RECQL5	71137495	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.184000	0.65070	2.676000	0.91093	0.655000	0.94253	TCC		0.622	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		5	58	0	0	0	1	0	5	58				
UGCG	7357	broad.mit.edu	37	9	114676954	114676954	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:114676954G>A	ENST00000374279.3	+	2	618	c.168G>A	c.(166-168)ctG>ctA	p.L56L	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	56					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TCTCTCTTCTGAAACCACTGA	0.368																																						ENST00000374279.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(166-168)ctG>ctA		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)						101.0	102.0	102.0					9																	114676954		2203	4300	6503	SO:0001819	synonymous_variant	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114676954G>A	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.168G>A	9.37:g.114676954G>A						UGCG_ENST00000495085.1_3'UTR	p.L56L	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	2	618	+			56					Q5T258	Silent	SNP	ENST00000374279.3	37	c.168G>A	CCDS6782.1																																																																																				0.368	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		5	94	0	0	0	1	0	5	94				
CASP8	841	broad.mit.edu	37	2	202141631	202141631	+	Missense_Mutation	SNP	C	C	T	rs17860424		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:202141631C>T	ENST00000432109.2	+	8	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M|CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000358485.4_Missense_Mutation_p.R307W	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	248			R -> W (in CASP8D; dbSNP:rs17860424). {ECO:0000269|PubMed:12353035}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGCAAAAGCACGGGAGAAAGT	0.393										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52	GRCh37	CM023571	CASP8	M	rs17860424	c.(919-921)Cgg>Tgg		caspase 8, apoptosis-related cysteine peptidase							87.0	79.0	81.0					2																	202141631		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202141631C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.742C>T	2.37:g.202141631C>T	ENSP00000412523:p.Arg248Trp	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Missense_Mutation_p.R248W|CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M	p.R307W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			7	1115	+			248					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.919C>T	CCDS2342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.03|18.03	3.533327|3.533327	0.64972|0.64972	.|.	.|.	ENSG00000064012|ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492|ENST00000392259;ENST00000392266;ENST00000392258;ENST00000424461	T;T;D;D;T;T|.	0.83673|.	-1.41;-1.41;-1.75;-1.75;-1.41;-1.41|.	5.6|5.6	3.76|3.76	0.43208|0.43208	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);DEATH-like (1);Peptidase C14, ICE, catalytic subunit p20 (1);|.	.|.	.|.	.|.	.|.	T|T	0.71854|0.71854	0.3389|0.3389	.|.	.|.	.|.	0.20403|0.20403	A|A	9.57995e-05|9.57995e-05	D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;0.999	D;D;D;D;D;D|D;P	0.91635|0.63703	0.999;0.995;0.989;0.975;0.978;0.998|0.917;0.88	T|T	0.79403|0.79403	-0.1818|-0.1818	7|6	0.87932|0.59425	D|D	0|0.04	.|.	12.2345|12.2345	0.54508|0.54508	0.4721:0.5279:0.0:0.0|0.4721:0.5279:0.0:0.0	rs17860424|rs17860424	248;233;307;248;233;265|211;226	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4|Q14790-6;Q14790-5	.;.;.;CASP8_HUMAN;.;.|.;.	W|M	233;248;265;130;307;233;233|226;211;226;74	ENSP00000376091:R233W;ENSP00000412523:R248W;ENSP00000264275:R265W;ENSP00000391709:R130W;ENSP00000351273:R307W;ENSP00000325722:R233W|.	ENSP00000264275:R265W|ENSP00000376087:T226M	R|T	+|+	1|2	2|0	CASP8|CASP8	201849876|201849876	0.024000|0.024000	0.19004|0.19004	0.979000|0.979000	0.43373|0.43373	0.018000|0.018000	0.09664|0.09664	0.275000|0.275000	0.18698|0.18698	0.675000|0.675000	0.31264|0.31264	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.393	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		6	43	0	0	0	1	0	6	43				
LRTM1	57408	broad.mit.edu	37	3	54958711	54958711	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:54958711T>C	ENST00000273286.5	-	2	701	c.539A>G	c.(538-540)aAc>aGc	p.N180S	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	180	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTCCAGAGGTTGTCCTTGAG	0.463																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(538-540)aAc>aGc		leucine-rich repeats and transmembrane domains 1							100.0	105.0	103.0					3																	54958711		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54958711T>C	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.539A>G	3.37:g.54958711T>C	ENSP00000273286:p.Asn180Ser					CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron	p.N180S	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	2	701	-			180			LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.539A>G	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570204	0.86542	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.97352	3.54;-4.35	5.96	5.96	0.96718	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	.	16.437	0.83878	0.0:0.0:0.0:1.0	.	180	Q9HBL6	LRTM1_HUMAN	S	180;104	ENSP00000273286:N180S;ENSP00000419772:N104S	ENSP00000273286:N180S	N	-	2	0	LRTM1	54933751	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.500000	0.81588	2.278000	0.76064	0.533000	0.62120	AAC		0.463	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		6	127	0	0	0	1	0	6	127				
OR52A4	390053	broad.mit.edu	37	11	5142588	5142588	+	RNA	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5142588T>C	ENST00000498233.1	-	0	810							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGTGAAATGTCTGTGGCTCC	0.423																																						ENST00000498233.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22															60.0	60.0	60.0					11																	5142588		2201	4298	6499			390053							g.chr11:5142588T>C			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142588T>C													Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	810	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							RNA	SNP	ENST00000498233.1	37			.	.	.	.	.	.	.	.	.	.	T	13.49	2.253725	0.39797	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66509	0.2796	.	.	.	0.23724	N	0.997013	D	0.67145	0.996	P	0.62184	0.899	T	0.75396	-0.3332	6	0.72032	D	0.01	.	9.8255	0.40910	0.0:0.0:0.1735:0.8265	.	74	A6NMU1	O52A4_HUMAN	G	74	.	ENSP00000369727:D74G	D	-	2	0	OR52A4	5099164	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	5.616000	0.67709	0.697000	0.31718	0.528000	0.53228	GAC		0.423	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		7	61	0	0	0	1	0	7	61				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	51	0	0	0	1	0	4	51				
ARHGAP5	394	broad.mit.edu	37	14	32562761	32562761	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:32562761A>C	ENST00000345122.3	+	2	3201	c.2886A>C	c.(2884-2886)gaA>gaC	p.E962D	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	962					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAAAGTGAAGATGTTTTTC	0.358																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2884-2886)gaA>gaC		Rho GTPase activating protein 5							55.0	54.0	54.0					14																	32562761		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562761A>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2886A>C	14.37:g.32562761A>C	ENSP00000371897:p.Glu962Asp					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	p.E962D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3201	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		962					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2886A>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695811	0.48202	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.66	-2.54	0.06307	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.52759	1.655	0.47621	D	0.999474	P;P	0.45827	0.867;0.791	P;P	0.56514	0.8;0.636	T	0.00425	-1.1747	10	0.33940	T	0.23	.	14.755	0.69557	0.4491:0.0:0.5509:0.0	.	962;962	Q13017-2;Q13017	.;RHG05_HUMAN	D	962	ENSP00000452222:E962D;ENSP00000441692:E962D;ENSP00000371897:E962D;ENSP00000393307:E962D	ENSP00000371897:E962D	E	+	3	2	ARHGAP5	31632512	0.989000	0.36119	0.992000	0.48379	0.997000	0.91878	0.362000	0.20284	-0.351000	0.08249	0.528000	0.53228	GAA		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		10	120	0	0	0	1	0	10	120				
PDGFD	80310	broad.mit.edu	37	11	103814225	103814225	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814225T>A	ENST00000393158.2	-	5	906	c.727A>T	c.(727-729)Acc>Tcc	p.T243S	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Missense_Mutation_p.T237S			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	243					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TACCGAGGGGTGTCCAGATAC	0.408																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(709-711)Acc>Tcc		platelet derived growth factor D							122.0	101.0	108.0					11																	103814225		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103814225T>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.727A>T	11.37:g.103814225T>A	ENSP00000376865:p.Thr243Ser					PDGFD_ENST00000393158.2_Missense_Mutation_p.T243S	p.T237S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	1160	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	243					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.709A>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	8.896	0.955250	0.18507	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.24723	1.84;1.84	5.53	3.14	0.36123	.	0.157640	0.53938	D	0.000043	T	0.17746	0.0426	L	0.34521	1.04	0.22081	N	0.999372	B;B	0.27971	0.049;0.196	B;B	0.26693	0.012;0.072	T	0.14868	-1.0457	10	0.40728	T	0.16	-3.6122	8.3976	0.32566	0.0:0.0688:0.1327:0.7986	.	243;237	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	S	243;237	ENSP00000376865:T243S;ENSP00000302193:T237S	ENSP00000302193:T237S	T	-	1	0	PDGFD	103319435	0.923000	0.31300	0.416000	0.26546	0.027000	0.11550	3.194000	0.51005	0.448000	0.26722	0.528000	0.53228	ACC		0.408	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		5	36	0	0	0	1	0	5	36				
RELN	5649	broad.mit.edu	37	7	103138545	103138545	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103138545T>A	ENST00000428762.1	-	54	8981	c.8822A>T	c.(8821-8823)gAt>gTt	p.D2941V	RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|RELN_ENST00000424685.2_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2941					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGATCCAAATCTTGTGTAAC	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8821-8823)gAt>gTt		reelin							107.0	103.0	105.0					7																	103138545		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138545T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8822A>T	7.37:g.103138545T>A	ENSP00000392423:p.Asp2941Val					RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|RELN_ENST00000428762.1_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA	p.D2941V			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8981	-			2941					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8822A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676919	0.88445	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.30182	1.54;1.54;1.54	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.968	T	0.58064	-0.7702	10	0.62326	D	0.03	.	16.3158	0.82923	0.0:0.0:0.0:1.0	.	2941;2941	P78509-2;P78509	.;RELN_HUMAN	V	2941;2941;2941;458;2941	ENSP00000392423:D2941V;ENSP00000345694:D2941V;ENSP00000388446:D2941V	ENSP00000345694:D2941V	D	-	2	0	RELN	102925781	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.254000	0.74563	0.533000	0.62120	GAT		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	90	0	0	0	1	0	10	90				
SPAG17	200162	broad.mit.edu	37	1	118530499	118530499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:118530499G>A	ENST00000336338.5	-	40	5692	c.5627C>T	c.(5626-5628)aCa>aTa	p.T1876I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1876						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGAGGATGCTGTGTGTCTATG	0.388																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5626-5628)aCa>aTa		sperm associated antigen 17							162.0	147.0	152.0					1																	118530499		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118530499G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5627C>T	1.37:g.118530499G>A	ENSP00000337804:p.Thr1876Ile						p.T1876I	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	40	5692	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1876					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5627C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610177	0.14066	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17854	2.25	4.33	0.0993	0.14502	.	1.131120	0.06432	N	0.724250	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.45101	-0.9284	10	0.26408	T	0.33	.	4.2447	0.10665	0.2957:0.1694:0.5349:0.0	.	1876	Q6Q759	SPG17_HUMAN	I	1876;356	ENSP00000337804:T1876I	ENSP00000337804:T1876I	T	-	2	0	SPAG17	118332022	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.061000	0.14366	-0.059000	0.13154	-0.136000	0.14681	ACA		0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	42	0	0	0	1	0	5	42				
ABCC1	4363	broad.mit.edu	37	16	16103674	16103674	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:16103674C>G	ENST00000399410.3	+	3	442	c.267C>G	c.(265-267)ctC>ctG	p.L89L	ABCC1_ENST00000349029.5_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000345148.5_Silent_p.L89L|ABCC1_ENST00000399408.2_Silent_p.L89L|ABCC1_ENST00000351154.5_Silent_p.L89L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	89					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L89L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCAGACCTCTTCTACTCTT	0.552																																						ENST00000399408.2																			1	Substitution - coding silent(1)	p.L89L(1)	lung(1)	breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(265-267)ctC>ctG		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						152.0	154.0	154.0					16																	16103674		1916	4111	6027	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16103674C>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.267C>G	16.37:g.16103674C>G						ABCC1_ENST00000345148.5_Silent_p.L89L|ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000399410.3_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L	p.L89L			P33527	MRP1_HUMAN			3	442	+			89					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.267C>G	CCDS42122.1																																																																																				0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		20	144	0	0	0	1	0	20	144				
BSN	8927	broad.mit.edu	37	3	49698774	49698774	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49698774A>G	ENST00000296452.4	+	6	9610	c.9496A>G	c.(9496-9498)Agc>Ggc	p.S3166G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3166					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTGATCGCCAGCCCCGTTGT	0.627																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(9496-9498)Agc>Ggc		bassoon presynaptic cytomatrix protein							81.0	64.0	69.0					3																	49698774		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698774A>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9496A>G	3.37:g.49698774A>G	ENSP00000296452:p.Ser3166Gly						p.S3166G	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9610	+			3166					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.9496A>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	9.589	1.125534	0.20959	.	.	ENSG00000164061	ENST00000296452	T	0.18174	2.23	5.06	3.88	0.44766	.	0.104577	0.64402	D	0.000007	T	0.11452	0.0279	N	0.22421	0.69	0.29873	N	0.826641	B	0.17465	0.022	B	0.16722	0.016	T	0.06058	-1.0848	10	0.46703	T	0.11	-11.0607	9.5031	0.39031	0.8552:0.0:0.1448:0.0	.	3166	Q9UPA5	BSN_HUMAN	G	3166	ENSP00000296452:S3166G	ENSP00000296452:S3166G	S	+	1	0	BSN	49673778	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	3.926000	0.56491	1.904000	0.55121	0.459000	0.35465	AGC		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	52	0	0	0	1	0	5	52				
VCAN	1462	broad.mit.edu	37	5	82843897	82843897	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:82843897G>A	ENST00000265077.3	+	10	10052	c.9487G>A	c.(9487-9489)Gag>Aag	p.E3163K	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K|VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3163	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCACTTTGTGAGCAAGGTAA	0.388																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9487-9489)Gag>Aag		versican							188.0	167.0	174.0					5																	82843897		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82843897G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9487G>A	5.37:g.82843897G>A	ENSP00000265077:p.Glu3163Lys					VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K	p.E3163K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	10	10052	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3163			EGF-like 2; calcium-binding (Potential).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9487G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351307	0.95830	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	5.56	5.56	0.83823	C-type lectin-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.116123	0.39407	N	0.001363	D	0.97704	0.9247	M	0.88704	2.975	0.51233	D	0.999914	D;D;P;D	0.89917	1.0;0.961;0.876;0.999	D;P;P;D	0.70935	0.971;0.616;0.901;0.937	D	0.98150	1.0441	10	0.72032	D	0.01	.	19.5334	0.95239	0.0:0.0:1.0:0.0	.	1409;422;2176;3163	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	K	3163;2176;1409;1361;422	ENSP00000265077:E3163K;ENSP00000340062:E2176K;ENSP00000342768:E1409K;ENSP00000425959:E1361K;ENSP00000421362:E422K	ENSP00000265077:E3163K	E	+	1	0	VCAN	82879653	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	9.832000	0.99423	2.616000	0.88540	0.650000	0.86243	GAG		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		15	53	0	0	0	1	0	15	53				
ZNF860	344787	broad.mit.edu	37	3	32030595	32030595	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:32030595G>C	ENST00000360311.4	+	2	573	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	8					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)|lung(4)|ovary(1)	8						AAGCAGCTCAGAAGAGGAAAG	0.468																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(22-24)caG>caC		zinc finger protein 860							32.0	29.0	30.0					3																	32030595		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030595G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.24G>C	3.37:g.32030595G>C	ENSP00000373274:p.Gln8His						p.Q8H	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	573	+			8					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.24G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777663	0.16120	.	.	ENSG00000197385	ENST00000360311	T	0.05717	3.4	0.47	0.47	0.16747	.	.	.	.	.	T	0.11153	0.0272	L	0.54323	1.7	0.09310	N	1	P	0.51240	0.943	P	0.55667	0.781	T	0.20306	-1.0279	8	.	.	.	.	2.8664	0.05603	0.389:0.0:0.6109:0.0	.	8	A6NHJ4	ZN860_HUMAN	H	8	ENSP00000373274:Q8H	.	Q	+	3	2	ZNF860	32005599	0.069000	0.21087	0.003000	0.11579	0.227000	0.25037	0.317000	0.19487	0.501000	0.28013	0.185000	0.17295	CAG		0.468	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			5	84	0	0	0	1	0	5	84				
FASTKD1	79675	broad.mit.edu	37	2	170428478	170428478	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170428478A>C	ENST00000453153.2	-	2	408	c.62T>G	c.(61-63)aTt>aGt	p.I21S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	21					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAATGGACAAATAGCTCTTAG	0.358																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(61-63)aTt>aGt		FAST kinase domains 1							61.0	60.0	60.0					2																	170428478		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428478A>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.62T>G	2.37:g.170428478A>C	ENSP00000400513:p.Ile21Ser					FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S	p.I21S	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			2	408	-			21					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.62T>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166372	0.21621	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.20332	2.08;2.09	5.07	1.41	0.22369	.	1.126810	0.06480	N	0.732641	T	0.24236	0.0587	M	0.63428	1.95	0.09310	N	1	B;B;B	0.29862	0.062;0.102;0.259	B;B;B	0.28139	0.039;0.086;0.055	T	0.33727	-0.9857	10	0.72032	D	0.01	-14.6729	8.5662	0.33540	0.6956:0.0:0.3044:0.0	.	21;21;21	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	S	21	ENSP00000400513:I21S;ENSP00000403229:I21S	ENSP00000396769:I21S	I	-	2	0	FASTKD1	170136724	0.005000	0.15991	0.001000	0.08648	0.631000	0.37964	1.364000	0.34171	0.367000	0.24454	0.482000	0.46254	ATT		0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		8	52	0	0	0	1	0	8	52				
SYNE1	23345	broad.mit.edu	37	6	152826378	152826378	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152826378C>T	ENST00000367255.5	-	9	1337	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	246	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A246T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTTTCGGCGATAGTGAAA	0.433										HNSCC(10;0.0054)																												ENST00000367255.5																			2	Substitution - Missense(2)	p.A246T(2)	central_nervous_system(2)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(736-738)Gcc>Acc		spectrin repeat containing, nuclear envelope 1							144.0	131.0	135.0					6																	152826378		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152826378C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.736G>A	6.37:g.152826378C>T	ENSP00000356224:p.Ala246Thr	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T	p.A246T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	9	1337	-		Ovarian(120;0.0955)	246			Actin-binding.|CH 2.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.736G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261172	0.80246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.74	5.74	0.90152	Calponin homology domain (5);	0.096943	0.45126	D	0.000382	D	0.99609	0.9858	H	0.98786	4.33	0.80722	D	1	P;P;D;P;D	0.89917	0.797;0.689;0.97;0.689;1.0	P;B;P;B;D	0.74674	0.529;0.367;0.642;0.367;0.984	D	0.97940	1.0325	10	0.54805	T	0.06	.	19.994	0.97377	0.0:1.0:0.0:0.0	.	246;246;246;246;253	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	246;253;246;253;246;246;253;246;246;246	ENSP00000356224:A246T;ENSP00000396024:A253T;ENSP00000265368:A246T;ENSP00000390975:A253T;ENSP00000341887:A246T;ENSP00000356222:A246T;ENSP00000356217:A253T;ENSP00000414510:A246T;ENSP00000446021:A246T;ENSP00000441264:A246T	ENSP00000265368:A246T	A	-	1	0	SYNE1	152868071	1.000000	0.71417	0.530000	0.27963	0.026000	0.11368	7.818000	0.86416	2.735000	0.93741	0.638000	0.83543	GCC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	57	0	0	0	1	0	12	57				
NOD1	10392	broad.mit.edu	37	7	30485798	30485798	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30485798G>A	ENST00000222823.4	-	9	2937	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	804					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.L804L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGCCAGGGCGAGATACTTCC	0.527																																						ENST00000222823.4																			1	Substitution - coding silent(1)	p.L804L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(2410-2412)ctC>ctT		nucleotide-binding oligomerization domain containing 1							361.0	289.0	313.0					7																	30485798		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30485798G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2412C>T	7.37:g.30485798G>A							p.L804L	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			9	2937	-			804					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.2412C>T	CCDS5427.1																																																																																				0.527	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			10	152	0	0	0	1	0	10	152				
CCDC65	85478	broad.mit.edu	37	12	49312668	49312668	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49312668G>C	ENST00000320516.4	+	6	1196	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L336L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAAGGCCCTGAGAAAGATTG	0.488																																						ENST00000266984.5																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1006-1008)ctG>ctC		coiled-coil domain containing 65							49.0	48.0	48.0					12																	49312668		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49312668G>C		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1008G>C	12.37:g.49312668G>C						ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L336L	p.L336L			Q8IXS2	CCD65_HUMAN			6	1235	+			336					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.1008G>C	CCDS8772.1																																																																																				0.488	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		7	43	0	0	0	1	0	7	43				
GON4L	54856	broad.mit.edu	37	1	155735586	155735586	+	Silent	SNP	G	G	A	rs200033678		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155735586G>A	ENST00000368331.1	-	21	3726	c.3678C>T	c.(3676-3678)caC>caT	p.H1226H	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.H1226H|GON4L_ENST00000437809.1_Silent_p.H1226H|GON4L_ENST00000361040.5_Silent_p.H1226H	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1226					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCACATTCACGTGGGCCTTAT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21767	0.0		0.0	False		,,,				2504	0.0					ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3676-3678)caC>caT		gon-4-like (C. elegans)							90.0	92.0	92.0					1																	155735586		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735586G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3678C>T	1.37:g.155735586G>A						GON4L_ENST00000368331.1_Silent_p.H1226H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.H1226H|GON4L_ENST00000271883.5_Silent_p.H1226H	p.H1226H			Q3T8J9	GON4L_HUMAN			21	3800	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1226					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.3678C>T																																																																																					0.493	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		6	101	0	0	0	1	0	6	101				
FBN2	2201	broad.mit.edu	37	5	127670419	127670419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:127670419C>T	ENST00000508053.1	-	37	5065	c.4091G>A	c.(4090-4092)gGa>gAa	p.G1364E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E			P35556	FBN2_HUMAN	fibrillin 2	1364	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGTACATCCTGTGGTCCC	0.428																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4090-4092)gGa>gAa		fibrillin 2							138.0	122.0	127.0					5																	127670419		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670419C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4091G>A	5.37:g.127670419C>T	ENSP00000424571:p.Gly1364Glu					FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E	p.G1364E			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5065	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1364			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4091G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925395	0.92319	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	4.96	4.96	0.65561	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.64402	D	0.000013	D	0.92241	0.7539	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92460	0.5977	10	0.49607	T	0.09	.	18.8164	0.92079	0.0:1.0:0.0:0.0	.	1331;1364	D6RJI3;P35556	.;FBN2_HUMAN	E	1364;1364;214;1331	ENSP00000262464:G1364E;ENSP00000424571:G1364E;ENSP00000426839:G214E;ENSP00000425596:G1331E	ENSP00000262464:G1364E	G	-	2	0	FBN2	127698318	1.000000	0.71417	0.703000	0.30354	0.958000	0.62258	7.609000	0.82925	2.743000	0.94032	0.650000	0.86243	GGA		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	88	0	0	0	1	0	10	88				
KLF5	688	broad.mit.edu	37	13	73636025	73636025	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:73636025G>C	ENST00000377687.4	+	2	824	c.288G>C	c.(286-288)ctG>ctC	p.L96L	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.L5L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	96					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAAGTATCTGACACCTCAGC	0.428																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(286-288)ctG>ctC		Kruppel-like factor 5 (intestinal)							106.0	110.0	109.0					13																	73636025		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636025G>C	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.288G>C	13.37:g.73636025G>C						KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.L5L	p.L96L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	824	+		Prostate(6;0.00187)|Breast(118;0.0735)	96					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.288G>C	CCDS9448.1																																																																																				0.428	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			12	128	0	0	0	1	0	12	128				
ELN	2006	broad.mit.edu	37	7	73455550	73455550	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:73455550C>T	ENST00000252034.7	+	5	600	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ELN_ENST00000458204.1_Silent_p.P57P|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000414324.1_Silent_p.P57P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000380553.4_Silent_p.P67P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000380576.5_Silent_p.P67P	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	67					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCACAGTTCCCGGAGGGCTTG	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(199-201)ccC>ccT		elastin	Rofecoxib(DB00533)						257.0	251.0	253.0					7																	73455550		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73455550C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.201C>T	7.37:g.73455550C>T						ELN_ENST00000458204.1_Silent_p.P57P|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000380576.5_Silent_p.P67P|ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000380553.4_Silent_p.P67P|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000414324.1_Silent_p.P57P	p.P67P	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			5	600	+		Lung NSC(55;0.159)	67					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.201C>T	CCDS5562.2																																																																																				0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		24	260	0	0	0	1	0	24	260				
CMTM2	146225	broad.mit.edu	37	16	66613547	66613547	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:66613547C>T	ENST00000268595.2	+	1	188	c.37C>T	c.(37-39)Cca>Tca	p.P13S	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	13					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCAGAGCCAGCACCAGC	0.587																																						ENST00000268595.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(37-39)Cca>Tca		CKLF-like MARVEL transmembrane domain containing 2							69.0	68.0	68.0					16																	66613547		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613547C>T	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.37C>T	16.37:g.66613547C>T	ENSP00000268595:p.Pro13Ser					CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S	p.P13S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	1	188	+		Ovarian(137;0.0563)	13					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.37C>T	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	6.972	0.549268	0.13374	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.49139	0.79;1.4	0.364	0.364	0.16124	.	1.510550	0.04035	N	0.302219	T	0.59197	0.2176	L	0.46157	1.445	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.65140	0.932;0.932	T	0.47368	-0.9123	9	0.87932	D	0	-19.9569	.	.	.	.	13;13	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	S	13	ENSP00000368800:P13S;ENSP00000268595:P13S	ENSP00000268595:P13S	P	+	1	0	CMTM2	65171048	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.612000	0.05616	0.406000	0.25560	0.407000	0.27541	CCA		0.587	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			6	70	0	0	0	1	0	6	70				
NMD3	51068	broad.mit.edu	37	3	160968692	160968692	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:160968692G>C	ENST00000460469.1	+	15	1961	c.1506G>C	c.(1504-1506)ctG>ctC	p.L502L	NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Silent_p.L502L			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	502	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATCAATGCTGACATAATGAG	0.433																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(1504-1506)ctG>ctC		NMD3 ribosome export adaptor							169.0	145.0	153.0					3																	160968692		2203	4300	6503	SO:0001819	synonymous_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160968692G>C	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1506G>C	3.37:g.160968692G>C						NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Silent_p.L502L	p.L502L			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		15	1961	+			502			Necessary for the nuclear export of the 60S ribosomal subunit.		D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	c.1506G>C	CCDS3194.1																																																																																				0.433	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		5	91	0	0	0	1	0	5	91				
MYLK3	91807	broad.mit.edu	37	16	46781826	46781826	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46781826G>T	ENST00000394809.4	-	1	395	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	94					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCAGCTCCAGGACCTCGGGC	0.716																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(280-282)Ctg>Atg		myosin light chain kinase 3							29.0	28.0	29.0					16																	46781826		2203	4299	6502	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46781826G>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.280C>A	16.37:g.46781826G>T	ENSP00000378288:p.Leu94Met					MYLK3_ENST00000536476.1_Intron	p.L94M	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			1	395	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	94					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.280C>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255630	0.59321	.	.	ENSG00000140795	ENST00000394809	T	0.73258	-0.73	4.87	4.87	0.63330	.	0.000000	0.28847	N	0.013953	T	0.80281	0.4594	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80555	-0.1330	10	0.54805	T	0.06	.	7.534	0.27700	0.0916:0.0:0.7426:0.1659	.	94	Q32MK0	MYLK3_HUMAN	M	94	ENSP00000378288:L94M	ENSP00000378288:L94M	L	-	1	2	MYLK3	45339327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.715000	0.37971	2.394000	0.81467	0.491000	0.48974	CTG		0.716	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		3	33	1	0	0.115264	1	0.116025	3	33				
ALG13	79868	broad.mit.edu	37	X	110924449	110924449	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:110924449G>T	ENST00000394780.3	+	1	15	c.3G>T	c.(1-3)atG>atT	p.M1I	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCCGCGCCATGAAGTGCGTGT	0.602																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(1-3)atG>atT		ALG13, UDP-N-acetylglucosaminyltransferase subunit							217.0	169.0	186.0					X																	110924449		2203	4300	6503	SO:0001582	initiator_codon_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110924449G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3G>T	X.37:g.110924449G>T	ENSP00000378260:p.Met1Ile					ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I	p.M1I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			1	15	+			1					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Translation_Start_Site	SNP	ENST00000394780.3	37	c.3G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424875	0.62733	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	T;T;T	0.80214	-1.02;-1.35;0.3	5.23	5.23	0.72850	.	.	.	.	.	D	0.89378	0.6698	.	.	.	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.87578	0.628;0.998	D	0.89959	0.4085	8	0.54805	T	0.06	.	15.6515	0.77099	0.0:0.0:1.0:0.0	.	1;1	Q9NP73;Q9NP73-2	ALG13_HUMAN;.	I	1	ENSP00000361047:M1I;ENSP00000426892:M1I;ENSP00000378260:M1I	ENSP00000361047:M1I	M	+	3	0	ALG13	110811105	1.000000	0.71417	0.992000	0.48379	0.507000	0.33981	7.702000	0.84576	2.419000	0.82065	0.600000	0.82982	ATG		0.602	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	Missense_Mutation	27	232	1	0	9.39395e-14	1	1.0381e-13	27	232				
FAM155A	728215	broad.mit.edu	37	13	108518310	108518310	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108518310G>T	ENST00000375915.2	-	1	773	c.635C>A	c.(634-636)cCc>cAc	p.P212H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	212						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGCGGAGTGGGATGCTTGCT	0.587																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(634-636)cCc>cAc		family with sequence similarity 155, member A							78.0	89.0	85.0					13																	108518310		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518310G>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.635C>A	13.37:g.108518310G>T	ENSP00000365080:p.Pro212His						p.P212H	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	773	-			212					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.635C>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	5.299	0.240488	0.10023	.	.	ENSG00000204442	ENST00000375915	T	0.11821	2.74	5.48	2.26	0.28386	.	0.906739	0.09385	N	0.809358	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	P	0.44429	0.835	B	0.43950	0.437	T	0.35919	-0.9769	10	0.51188	T	0.08	.	17.5256	0.87799	0.0:0.0:0.8516:0.1484	.	212	B1AL88	F155A_HUMAN	H	212	ENSP00000365080:P212H	ENSP00000365080:P212H	P	-	2	0	FAM155A	107316311	0.011000	0.17503	0.008000	0.14137	0.012000	0.07955	0.994000	0.29693	0.600000	0.29862	0.655000	0.94253	CCC		0.587	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	120	1	0	0.00307968	1	0.00314674	7	120				
WDR35	57539	broad.mit.edu	37	2	20138032	20138032	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:20138032C>T	ENST00000345530.3	-	19	2205	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCAAAGTCGGGGGTGTGG	0.443																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2089-2091)cGa>cAa		WD repeat domain 35							109.0	111.0	110.0					2																	20138032		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20138032C>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2090G>A	2.37:g.20138032C>T	ENSP00000314444:p.Arg697Gln					WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q	p.R697Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			19	2205	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		697					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2090G>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.602071	0.96614	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87029	-0.19;-0.2;-0.8;-2.2	5.59	5.59	0.84812	.	0.054417	0.64402	D	0.000002	D	0.94670	0.8281	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.85130	0.987;0.997;0.971;0.927	D	0.94900	0.8055	10	0.59425	D	0.04	-10.7003	18.5646	0.91113	0.0:1.0:0.0:0.0	.	697;686;697;262	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	697;686;262;232	ENSP00000314444:R697Q;ENSP00000281405:R686Q;ENSP00000399159:R262Q;ENSP00000404409:R232Q	ENSP00000281405:R686Q	R	-	2	0	WDR35	20001513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.640000	0.89533	0.591000	0.81541	CGA		0.443	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		8	81	0	0	0	1	0	8	81				
SMURF2	64750	broad.mit.edu	37	17	62543753	62543753	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:62543753G>A	ENST00000262435.9	-	17	2223	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	679	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGGCACTCGAGAGGATCCTGT	0.547																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(2035-2037)tCt>tTt		SMAD specific E3 ubiquitin protein ligase 2							121.0	111.0	114.0					17																	62543753		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62543753G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2036C>T	17.37:g.62543753G>A	ENSP00000262435:p.Ser679Phe						p.S679F	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		17	2223	-	Breast(5;1.32e-14)		679			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.2036C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993789	0.93167	.	.	ENSG00000108854	ENST00000262435	T	0.61274	0.12	5.89	5.89	0.94794	HECT (4);	0.050433	0.85682	D	0.000000	D	0.84674	0.5524	H	0.96460	3.825	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.88675	0.3198	10	0.87932	D	0	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	679	Q9HAU4	SMUF2_HUMAN	F	679	ENSP00000262435:S679F	ENSP00000262435:S679F	S	-	2	0	SMURF2	59974215	1.000000	0.71417	0.457000	0.27056	0.914000	0.54420	9.751000	0.98889	2.793000	0.96121	0.561000	0.74099	TCT		0.547	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		5	60	0	0	0	1	0	5	60				
GLRA4	441509	broad.mit.edu	37	X	102979153	102979153	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:102979153G>T	ENST00000372617.4	-	4	767	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	116						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGGTCCAGAGAGTCATCAGG	0.547																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(346-348)tCt>tAt		glycine receptor, alpha 4							128.0	128.0	128.0					X																	102979153		2145	4276	6421	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979153G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.347C>A	X.37:g.102979153G>T	ENSP00000361700:p.Ser116Tyr						p.S116Y	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			4	767	-			116						Missense_Mutation	SNP	ENST00000372617.4	37	c.347C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833279	0.71258	.	.	ENSG00000188828	ENST00000372617	T	0.80393	-1.37	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	L	0.48362	1.52	0.52501	D	0.999957	P;P	0.48294	0.908;0.908	P;P	0.60345	0.873;0.652	D	0.86563	0.1842	10	0.72032	D	0.01	.	15.022	0.71637	0.0:0.0:1.0:0.0	.	116;75	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	Y	116	ENSP00000361700:S116Y	ENSP00000361700:S116Y	S	-	2	0	GLRA4	102865809	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	9.869000	0.99810	2.132000	0.65825	0.513000	0.50165	TCT		0.547	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		10	146	1	0	0.000442599	1	0.000462304	10	146				
NGDN	25983	broad.mit.edu	37	14	23945268	23945268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:23945268G>A	ENST00000408901.3	+	7	479	c.451G>A	c.(451-453)Gca>Aca	p.A151T	NGDN_ENST00000397154.3_Missense_Mutation_p.A151T|NGDN_ENST00000556580.1_5'Flank	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	151	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAAGATGAAGCAGAAGATGA	0.413																																						ENST00000397154.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12						c.(451-453)Gca>Aca		neuroguidin, EIF4E binding protein							102.0	102.0	102.0					14																	23945268		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945268G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.451G>A	14.37:g.23945268G>A	ENSP00000386134:p.Ala151Thr					NGDN_ENST00000408901.3_Missense_Mutation_p.A151T	p.A151T			Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	464	+	all_cancers(95;0.000251)		151			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.451G>A	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.637|2.637	-0.285078|-0.285078	0.05605|0.05605	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128|ENST00000556483	T;T|.	0.33216|.	1.44;1.42|.	5.36|5.36	0.168|0.168	0.15012|0.15012	.|.	1.039790|.	0.07467|.	N|.	0.901586|.	T|T	0.40862|0.40862	0.1134|0.1134	L|L	0.27053|0.27053	0.805|0.805	0.35517|0.35517	D|D	0.801107|0.801107	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.42378|0.42378	-0.9455|-0.9455	10|5	0.13853|.	T|.	0.58|.	-14.2863|-14.2863	9.2924|9.2924	0.37795|0.37795	0.4835:0.0:0.5165:0.0|0.4835:0.0:0.5165:0.0	.|.	151;151|.	Q8NEJ9-2;Q8NEJ9|.	.;NGDN_HUMAN|.	T|N	151;151;126|98	ENSP00000386134:A151T;ENSP00000380340:A151T|.	ENSP00000380340:A151T|.	A|S	+|+	1|2	0|0	NGDN|NGDN	23015108|23015108	0.917000|0.917000	0.31117|0.31117	0.413000|0.413000	0.26509|0.26509	0.129000|0.129000	0.20672|0.20672	1.213000|1.213000	0.32407|0.32407	0.126000|0.126000	0.18424|0.18424	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.413	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		12	68	0	0	0	1	0	12	68				
IFT140	9742	broad.mit.edu	37	16	1652541	1652541	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:1652541G>A	ENST00000426508.2	-	4	562	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	67					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCCAGCACAGGGAAGCAACC	0.602																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(199-201)Ctg>Ttg		intraflagellar transport 140 homolog (Chlamydomonas)							94.0	78.0	83.0					16																	1652541		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1652541G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.199C>T	16.37:g.1652541G>A						LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.L67L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			4	562	-		Hepatocellular(780;0.219)	67					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.199C>T	CCDS10439.1																																																																																				0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		4	43	0	0	0	1	0	4	43				
NIPBL	25836	broad.mit.edu	37	5	37016183	37016183	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:37016183G>C	ENST00000282516.8	+	23	5186	c.4687G>C	c.(4687-4689)Gaa>Caa	p.E1563Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1563Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1563					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCACTGTTTGAAAATTTTGT	0.388																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4687-4689)Gaa>Caa		Nipped-B homolog (Drosophila)							105.0	97.0	100.0					5																	37016183		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37016183G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4687G>C	5.37:g.37016183G>C	ENSP00000282516:p.Glu1563Gln					NIPBL_ENST00000448238.2_Missense_Mutation_p.E1563Q	p.E1563Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		23	5186	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1563					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4687G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200446	0.94997	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64991	-0.13;-0.13	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.81707	-0.0810	10	0.59425	D	0.04	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	1563;1563	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	1563	ENSP00000282516:E1563Q;ENSP00000406266:E1563Q	ENSP00000282516:E1563Q	E	+	1	0	NIPBL	37051940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.833000	0.97629	0.585000	0.79938	GAA		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		6	71	0	0	0	1	0	6	71				
DMD	1756	broad.mit.edu	37	X	32663245	32663245	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:32663245A>G	ENST00000357033.4	-	10	1191	c.985T>C	c.(985-987)Tca>Cca	p.S329P	DMD_ENST00000378677.2_Missense_Mutation_p.S325P|DMD_ENST00000288447.4_Missense_Mutation_p.S321P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	329					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCAAATGACTTGTCTTCA	0.378																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(985-987)Tca>Cca		dystrophin							141.0	125.0	130.0					X																	32663245		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32663245A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.985T>C	X.37:g.32663245A>G	ENSP00000354923:p.Ser329Pro					DMD_ENST00000288447.4_Missense_Mutation_p.S321P|DMD_ENST00000378677.2_Missense_Mutation_p.S325P	p.S329P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			10	1191	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	329					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.985T>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505362	0.26949	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73363	0.08;0.08;-0.74	5.58	3.16	0.36331	.	0.966260	0.08369	N	0.956436	T	0.66025	0.2748	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.10296	0.001;0.001;0.0;0.003;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.58747	-0.7582	10	0.49607	T	0.09	.	3.1136	0.06367	0.4532:0.0:0.2334:0.3134	.	325;321;321;329;325	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	P	321;325;329;329;206;321	ENSP00000367948:S325P;ENSP00000354923:S329P;ENSP00000288447:S321P	ENSP00000288447:S321P	S	-	1	0	DMD	32573166	0.632000	0.27172	1.000000	0.80357	0.988000	0.76386	0.048000	0.14078	0.321000	0.23259	-0.327000	0.08410	TCA		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	154	0	0	0	1	0	7	154				
EPS8L3	79574	broad.mit.edu	37	1	110301152	110301152	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110301152C>T	ENST00000361965.4	-	7	701	c.595G>A	c.(595-597)Gag>Aag	p.E199K	EPS8L3_ENST00000369805.3_Missense_Mutation_p.E200K|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	199	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTACTGTGCTCTAGGGTCCTC	0.577																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(598-600)Gag>Aag		EPS8-like 3							73.0	67.0	69.0					1																	110301152		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110301152C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.595G>A	1.37:g.110301152C>T	ENSP00000355255:p.Glu199Lys					EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E199K|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K	p.E200K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	7	827	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	199			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.598G>A	CCDS814.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438287	0.83885	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.60920	2.51;0.16;0.15	5.13	5.13	0.70059	.	2.739850	0.01035	N	0.004200	T	0.49898	0.1584	M	0.72118	2.19	0.36311	D	0.857622	B;B;B;P	0.39759	0.126;0.1;0.06;0.687	B;B;B;B	0.39503	0.045;0.067;0.03;0.301	T	0.49360	-0.8948	10	0.23302	T	0.38	-27.6985	14.4465	0.67352	0.0:1.0:0.0:0.0	.	199;199;199;200	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	K	199;200;199	ENSP00000354551:E199K;ENSP00000358820:E200K;ENSP00000355255:E199K	ENSP00000354551:E199K	E	-	1	0	EPS8L3	110102675	0.165000	0.22948	0.605000	0.28930	0.587000	0.36485	1.610000	0.36869	2.552000	0.86080	0.561000	0.74099	GAG		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		7	75	0	0	0	1	0	7	75				
HTRA2	27429	broad.mit.edu	37	2	74758074	74758074	+	Missense_Mutation	SNP	G	G	A	rs142306682		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74758074G>A	ENST00000258080.3	+	3	1378	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	250	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ACGCTCAGCTGATGTCCGGCA	0.552																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(748-750)Gat>Aat		HtrA serine peptidase 2		G	ASN/ASP,	0,4406		0,0,2203	196.0	203.0	201.0		748,	4.6	1.0	2	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	HTRA2	NM_013247.4,NM_145074.2	23,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	250/459,	74758074	1,13005	2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74758074G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.748G>A	2.37:g.74758074G>A	ENSP00000258080:p.Asp250Asn					HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	p.D250N	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			3	1378	+			250			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.748G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448304	0.63178	0.0	1.16E-4	ENSG00000115317	ENST00000258080;ENST00000437202	D;D	0.88354	-2.37;-2.37	4.64	4.64	0.57946	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.212494	0.48767	D	0.000172	D	0.86594	0.5970	L	0.27944	0.81	0.80722	D	1	P;P;P	0.45634	0.863;0.835;0.863	P;P;P	0.49953	0.601;0.571;0.627	D	0.85542	0.1216	10	0.33940	T	0.23	-13.0826	15.3795	0.74641	0.0:0.0:1.0:0.0	.	250;250;250	A8K7G2;O43464-3;O43464	.;.;HTRA2_HUMAN	N	250;237	ENSP00000258080:D250N;ENSP00000399166:D237N	ENSP00000258080:D250N	D	+	1	0	HTRA2	74611582	1.000000	0.71417	0.953000	0.39169	0.669000	0.39330	7.666000	0.83877	2.584000	0.87258	0.462000	0.41574	GAT		0.552	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		18	291	0	0	0	1	0	18	291				
TTN	7273	broad.mit.edu	37	2	179449452	179449452	+	Missense_Mutation	SNP	C	C	A	rs373282633		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:179449452C>A	ENST00000591111.1	-	260	60217	c.59993G>T	c.(59992-59994)cGa>cTa	p.R19998L	TTN_ENST00000359218.5_Missense_Mutation_p.R12699L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12574L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12766L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21639L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19071L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19998	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGCCAAATCGGTTTTCAGC	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64915-64917)cGa>cTa		titin							182.0	179.0	180.0					2																	179449452		1905	4112	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449452C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59993G>T	2.37:g.179449452C>A	ENSP00000465570:p.Arg19998Leu					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12574L|TTN_ENST00000342992.6_Missense_Mutation_p.R19071L|TTN_ENST00000342175.6_Missense_Mutation_p.R12766L|TTN_ENST00000359218.5_Missense_Mutation_p.R12699L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19998L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.R21639L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		310	65140	-			19998			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64916G>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.593580	0.86953	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69869	0.3159	L	0.47078	1.49	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;0.999;0.999;0.999	T	0.68800	-0.5313	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12574;12699;12766;19998	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19071;12574;12766;12699;12572	ENSP00000343764:R19071L;ENSP00000434586:R12574L;ENSP00000340554:R12766L;ENSP00000352154:R12699L	ENSP00000340554:R12766L	R	-	2	0	TTN	179157698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.901000	0.63259	2.941000	0.99782	0.655000	0.94253	CGA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	210	1	0	0.000442599	1	0.000462304	8	210				
GNL3L	54552	broad.mit.edu	37	X	54574764	54574764	+	Missense_Mutation	SNP	C	C	T	rs371577497		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:54574764C>T	ENST00000336470.4	+	9	872	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	245	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAACTATTGCCGCCTTGGTGA	0.542																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(733-735)Cgc>Tgc		guanine nucleotide binding protein-like 3 (nucleolar)-like		C	CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	96.0	77.0	84.0		733,733	3.1	1.0	X		84	1,6727		0,1,2427,1872	no	missense,missense	GNL3L	NM_001184819.1,NM_019067.5	180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	245/583,245/583	54574764	1,10562	2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54574764C>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.733C>T	X.37:g.54574764C>T	ENSP00000338573:p.Arg245Cys					GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C	p.R245C	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			9	872	+			245						Missense_Mutation	SNP	ENST00000336470.4	37	c.733C>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763151	0.49574	0.0	1.49E-4	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.15017	2.46;2.46	3.94	3.06	0.35304	.	0.053265	0.85682	N	0.000000	T	0.29028	0.0721	M	0.92122	3.275	0.80722	D	1	B	0.23650	0.089	B	0.21151	0.033	T	0.18903	-1.0322	10	0.87932	D	0	-6.4687	10.3878	0.44152	0.0:0.8934:0.0:0.1066	.	245	Q9NVN8	GNL3L_HUMAN	C	245	ENSP00000338573:R245C;ENSP00000354091:R245C	ENSP00000338573:R245C	R	+	1	0	GNL3L	54591489	0.998000	0.40836	0.995000	0.50966	0.924000	0.55760	2.391000	0.44424	0.757000	0.33036	0.538000	0.68166	CGC		0.542	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		4	23	0	0	0	1	0	4	23				
PRPS1	5631	broad.mit.edu	37	X	106885676	106885676	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106885676G>T	ENST00000372435.4	+	4	608	c.486G>T	c.(484-486)tgG>tgT	p.W162C	PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C|PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	162					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTCTGAGTGGAGGAACTGCA	0.433																																						ENST00000372435.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(484-486)tgG>tgT		phosphoribosyl pyrophosphate synthetase 1							157.0	132.0	141.0					X																	106885676		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106885676G>T	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.486G>T	X.37:g.106885676G>T	ENSP00000361512:p.Trp162Cys					PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C	p.W162C	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN			4	608	+			162					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.486G>T	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322410	0.60634	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.54	4.51	3.64	0.41730	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.94279	0.7518	10	0.56958	D	0.05	.	11.4216	0.49985	0.0927:0.0:0.9073:0.0	.	162;162	Q53FW2;P60891	.;PRPS1_HUMAN	C	162;95;162;62	ENSP00000361512:W162C;ENSP00000361505:W95C;ENSP00000443185:W162C;ENSP00000361495:W62C	ENSP00000361495:W62C	W	+	3	0	PRPS1	106772332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	0.989000	0.38761	0.544000	0.68410	TGG		0.433	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			11	116	1	0	3.86212e-05	1	4.12591e-05	11	116				
FAT4	79633	broad.mit.edu	37	4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A	rs182837803		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6568-6570)cGc>cAc		FAT atypical cadherin 4							171.0	153.0	159.0					4																	126336687		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336687G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6569G>A	4.37:g.126336687G>A	ENSP00000377862:p.Arg2190His					FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	p.R2190H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6582	+			2190			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6569G>A	CCDS3732.3	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.36	1.614369	0.28712	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.6	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.000000	0.35235	U	0.003351	T	0.02807	0.0084	L	0.42245	1.32	0.53688	D	0.99997	B;B	0.18968	0.021;0.032	B;B	0.22753	0.021;0.041	T	0.52011	-0.8632	10	0.37606	T	0.19	.	16.1535	0.81640	0.0:0.1337:0.8663:0.0	.	488;2190	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	2190;488	ENSP00000377862:R2190H;ENSP00000335169:R488H	ENSP00000335169:R488H	R	+	2	0	FAT4	126556137	1.000000	0.71417	0.995000	0.50966	0.080000	0.17528	7.668000	0.83897	1.303000	0.44873	0.557000	0.71058	CGC		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	148	0	0	0	1	0	16	148				
GIPR	2696	broad.mit.edu	37	19	46181250	46181250	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:46181250G>A	ENST00000590918.1	+	11	1110	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	GIPR_ENST00000263281.3_Silent_p.L337L|GIPR_ENST00000304207.8_Silent_p.L301L|GIPR_ENST00000593127.1_3'UTR|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	337				L -> V (in Ref. 2; AAB35419). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTACCGGCTGAGGTGAGGGC	0.607																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(1009-1011)ctG>ctA		gastric inhibitory polypeptide receptor							59.0	55.0	56.0					19																	46181250		2203	4300	6503	SO:0001819	synonymous_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46181250G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1011G>A	19.37:g.46181250G>A						GIPR_ENST00000593127.1_3'UTR|GIPR_ENST00000304207.8_Silent_p.L301L|GIPR_ENST00000263281.3_Silent_p.L337L	p.L337L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	11	1110	+		Ovarian(192;0.051)|all_neural(266;0.112)	337	L -> V (in Ref. 2; AAB35419).				B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	c.1011G>A	CCDS12671.1																																																																																				0.607	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			4	63	0	0	0	1	0	4	63				
ZNF600	162966	broad.mit.edu	37	19	53270399	53270399	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:53270399A>G	ENST00000338230.3	-	3	877	c.610T>C	c.(610-612)Tac>Cac	p.Y204H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	204					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CATGTAAGGTATTGCTTGTGA	0.398																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(610-612)Tac>Cac		zinc finger protein 600							139.0	143.0	141.0					19																	53270399		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270399A>G	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.610T>C	19.37:g.53270399A>G	ENSP00000344791:p.Tyr204His						p.Y204H	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	877	-			204					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.610T>C	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	4.026	0.002369	0.07819	.	.	ENSG00000189190	ENST00000338230	T	0.03889	3.77	1.54	-3.08	0.05347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.01686	-0.76	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21449	-1.0245	9	0.14656	T	0.56	.	2.7932	0.05394	0.2048:0.2904:0.0:0.5048	.	204	Q6ZNG1	ZN600_HUMAN	H	204	ENSP00000344791:Y204H	ENSP00000344791:Y204H	Y	-	1	0	ZNF600	57962211	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-9.061000	0.00014	-0.989000	0.03485	-1.335000	0.01260	TAC		0.398	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		13	238	0	0	0	1	0	13	238				
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A	rs376601333		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:107084402G>A	ENST00000262843.6	+	2	1055	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_ENST00000443968.2_Silent_p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(505-507)acG>acA		midline 2							57.0	49.0	52.0					X																	107084402		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084402G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.507G>A	X.37:g.107084402G>A						MID2_ENST00000443968.2_Silent_p.T169T	p.T169T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	1055	+			169					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.507G>A	CCDS14532.2																																																																																				0.552	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		7	59	0	0	0	1	0	7	59				
BMP4	652	broad.mit.edu	37	14	54418851	54418851	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:54418851C>T	ENST00000245451.4	-	3	483	c.90G>A	c.(88-90)acG>acA	p.T30T	BMP4_ENST00000558984.1_Silent_p.T30T|BMP4_ENST00000559087.1_Silent_p.T30T|BMP4_ENST00000417573.1_Silent_p.T30T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	30					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TTTTCTTCCCCGTCTCAGGTA	0.567																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(88-90)acG>acA		bone morphogenetic protein 4							57.0	61.0	60.0					14																	54418851		2203	4300	6503	SO:0001819	synonymous_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418851C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.90G>A	14.37:g.54418851C>T						BMP4_ENST00000417573.1_Silent_p.T30T|BMP4_ENST00000558984.1_Silent_p.T30T|BMP4_ENST00000559087.1_Silent_p.T30T	p.T30T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			3	483	-			30					Q9UM80	Silent	SNP	ENST00000245451.4	37	c.90G>A	CCDS9715.1																																																																																				0.567	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		9	74	0	0	0	1	0	9	74				
WDR59	79726	broad.mit.edu	37	16	74951881	74951881	+	Silent	SNP	C	C	T	rs534012628		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:74951881C>T	ENST00000262144.6	-	11	1042	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	304										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCGGGACCACGTCACCAGTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16622	0.001		0.0	False		,,,				2504	0.0					ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(910-912)acG>acA		WD repeat domain 59							136.0	123.0	127.0					16																	74951881		2198	4300	6498	SO:0001819	synonymous_variant	79726							g.chr16:74951881C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.912G>A	16.37:g.74951881C>T							p.T304T	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			11	1042	-			304					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.912G>A	CCDS32488.1																																																																																				0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		9	95	0	0	0	1	0	9	95				
RECK	8434	broad.mit.edu	37	9	36087862	36087862	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:36087862C>G	ENST00000377966.3	+	9	1375	c.809C>G	c.(808-810)tCt>tGt	p.S270C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	270	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCTCACAATCTGTTCACCCT	0.458																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(808-810)tCt>tGt		reversion-inducing-cysteine-rich protein with kazal motifs							154.0	135.0	141.0					9																	36087862		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087862C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.809C>G	9.37:g.36087862C>G	ENSP00000367202:p.Ser270Cys						p.S270C	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	1375	+			270			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.809C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749616	0.69533	.	.	ENSG00000122707	ENST00000377966	T	0.47177	0.85	5.48	4.58	0.56647	.	0.068598	0.64402	D	0.000011	T	0.35828	0.0945	N	0.08118	0	0.36885	D	0.889592	D;D	0.60160	0.987;0.987	P;P	0.48189	0.57;0.57	T	0.52668	-0.8545	10	0.72032	D	0.01	-10.8953	14.0875	0.64968	0.0:0.8481:0.1519:0.0	.	270;270	A8K9D8;O95980	.;RECK_HUMAN	C	270	ENSP00000367202:S270C	ENSP00000367202:S270C	S	+	2	0	RECK	36077862	1.000000	0.71417	0.954000	0.39281	0.988000	0.76386	4.424000	0.59868	1.302000	0.44855	0.591000	0.81541	TCT		0.458	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			8	52	0	0	0	1	0	8	52				
TCAIM	285343	broad.mit.edu	37	3	44409183	44409183	+	Silent	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:44409183A>G	ENST00000342649.4	+	5	982	c.555A>G	c.(553-555)agA>agG	p.R185R	TCAIM_ENST00000417237.1_Silent_p.R185R	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	185						mitochondrion (GO:0005739)		p.R185R(1)									AAGTCTCGAGAGTGGAAACAA	0.373																																						ENST00000342649.4																			1	Substitution - coding silent(1)	p.R185R(1)	ovary(1)								c.(553-555)agA>agG		T cell activation inhibitor, mitochondrial							39.0	37.0	38.0					3																	44409183		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44409183A>G		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.555A>G	3.37:g.44409183A>G						TCAIM_ENST00000417237.1_Silent_p.R185R	p.R185R	NM_173826.3	NP_776187.2					5	982	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.555A>G	CCDS2712.1																																																																																				0.373	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		5	33	0	0	0	1	0	5	33				
CENPE	1062	broad.mit.edu	37	4	104057410	104057410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:104057410C>T	ENST00000265148.3	-	40	6499	c.6410G>A	c.(6409-6411)aGa>aAa	p.R2137K	CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2137	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTTTAACTCTCATTGAAAG	0.363																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6409-6411)aGa>aAa		centromere protein E, 312kDa							142.0	140.0	141.0					4																	104057410		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104057410C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6410G>A	4.37:g.104057410C>T	ENSP00000265148:p.Arg2137Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K	p.R2137K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	40	6499	-			2137			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6410G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378285	0.11466	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.69926	-0.09;-0.44	5.26	-0.0219	0.13949	.	.	.	.	.	T	0.43144	0.1234	N	0.25647	0.755	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.08055	0.003;0.003	T	0.26155	-1.0111	9	0.06757	T	0.87	.	5.0415	0.14462	0.0:0.4166:0.2946:0.2888	.	2016;2137	Q02224-3;Q02224	.;CENPE_HUMAN	K	2137;2016	ENSP00000265148:R2137K;ENSP00000369365:R2016K	ENSP00000265148:R2137K	R	-	2	0	CENPE	104276859	0.000000	0.05858	0.009000	0.14445	0.968000	0.65278	-0.660000	0.05317	-0.026000	0.13895	0.637000	0.83480	AGA		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	97	0	0	0	1	0	9	97				
PCDHGA5	56110	broad.mit.edu	37	5	140744135	140744135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140744135C>T	ENST00000518069.1	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAACCCGCGAAGCGGCAG	0.607																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(238-240)Cga>Tga									50.0	60.0	56.0					5																	140744135		2195	4298	6493	SO:0001587	stop_gained	56110							g.chr5:140744135C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.238C>T	5.37:g.140744135C>T	ENSP00000429834:p.Arg80*					PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.R80*	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	238	+								Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	ENST00000518069.1	37	c.238C>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341214	0.24339	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.38	-4.75	0.03239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1789	0.42955	0.3747:0.1841:0.4412:0.0	.	.	.	.	X	80	.	ENSP00000429834:R80X	R	+	1	2	PCDHGA5	140724319	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	-0.696000	0.05104	-0.524000	0.06400	-0.318000	0.08688	CGA		0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		8	91	0	0	0	1	0	8	91				
ZNF462	58499	broad.mit.edu	37	9	109690843	109690843	+	Silent	SNP	C	C	T	rs143646728	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:109690843C>T	ENST00000277225.5	+	3	4939	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	ZNF462_ENST00000457913.1_Silent_p.H1550H|ZNF462_ENST00000441147.2_Silent_p.H395H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1550					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACTTTGTGCACGACGTAGAGC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		19822	0.0		0.002	False		,,,				2504	0.0					ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4648-4650)caC>caT		zinc finger protein 462		C		1,4405	2.1+/-5.4	0,1,2202	94.0	70.0	78.0		4650	-2.1	1.0	9	dbSNP_134	78	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ZNF462	NM_021224.4		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		1550/2507	109690843	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690843C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4650C>T	9.37:g.109690843C>T						ZNF462_ENST00000457913.1_Silent_p.H1550H|ZNF462_ENST00000441147.2_Silent_p.H395H	p.H1550H			Q96JM2	ZN462_HUMAN			3	4939	+			1550					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.4650C>T	CCDS35096.1																																																																																				0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	45	0	0	0	1	0	5	45				
USP32	84669	broad.mit.edu	37	17	58303585	58303585	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:58303585T>C	ENST00000300896.4	-	13	1441	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S	USP32_ENST00000592339.1_Missense_Mutation_p.N86S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	416	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TACCACAGGGTTGGCATCCTA	0.368																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1246-1248)aAc>aGc		ubiquitin specific peptidase 32							71.0	66.0	68.0					17																	58303585		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58303585T>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1247A>G	17.37:g.58303585T>C	ENSP00000300896:p.Asn416Ser					USP32_ENST00000592339.1_Missense_Mutation_p.N86S	p.N416S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		13	1441	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		416			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1247A>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	3.665	-0.068738	0.07228	.	.	ENSG00000170832	ENST00000300896	T	0.41400	1.0	5.43	0.733	0.18289	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.292253	0.41605	N	0.000859	T	0.21347	0.0514	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28106	-1.0054	10	0.05351	T	0.99	.	9.4613	0.38787	0.0:0.5482:0.0:0.4518	.	416	Q8NFA0	UBP32_HUMAN	S	416	ENSP00000300896:N416S	ENSP00000300896:N416S	N	-	2	0	USP32	55658367	1.000000	0.71417	0.983000	0.44433	0.811000	0.45836	0.513000	0.22770	-0.108000	0.12066	-0.375000	0.07067	AAC		0.368	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		7	59	0	0	0	1	0	7	59				
NUTM1	256646	broad.mit.edu	37	15	34648388	34648388	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:34648388C>G	ENST00000333756.4	+	7	2250	c.2095C>G	c.(2095-2097)Cag>Gag	p.Q699E	NUTM1_ENST00000438749.3_Missense_Mutation_p.Q717E|NUTM1_ENST00000537011.1_Missense_Mutation_p.Q727E	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	699						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCCATGGCTCAGAGTTATGA	0.572																																						ENST00000537011.1																			0											c.(2179-2181)Cag>Gag		NUT midline carcinoma, family member 1							37.0	40.0	39.0					15																	34648388		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34648388C>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2095C>G	15.37:g.34648388C>G	ENSP00000329448:p.Gln699Glu					NUTM1_ENST00000333756.4_Missense_Mutation_p.Q699E|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q717E	p.Q727E							8	2561	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2179C>G	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665939	0.29604	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.09911	2.94;2.93;2.94	5.0	2.98	0.34508	.	1.206010	0.05878	N	0.625974	T	0.11580	0.0282	L	0.50333	1.59	0.09310	N	1	B;B;B	0.31817	0.231;0.341;0.231	B;B;B	0.28011	0.039;0.085;0.039	T	0.30060	-0.9991	10	0.56958	D	0.05	.	5.4993	0.16819	0.209:0.6892:0.0:0.1018	.	717;727;699	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	E	727;717;699	ENSP00000444896:Q727E;ENSP00000407031:Q717E;ENSP00000329448:Q699E	ENSP00000329448:Q699E	Q	+	1	0	C15orf55	32435680	0.004000	0.15560	0.002000	0.10522	0.058000	0.15608	1.194000	0.32174	1.340000	0.45581	0.655000	0.94253	CAG		0.572	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		6	49	0	0	0	1	0	6	49				
XKR4	114786	broad.mit.edu	37	8	56435944	56435944	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:56435944G>A	ENST00000327381.6	+	3	1211	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	371						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTACATGGCCGTCATCAT	0.587																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1111-1113)Gcc>Acc		XK, Kell blood group complex subunit-related family, member 4							233.0	182.0	199.0					8																	56435944		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56435944G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1111G>A	8.37:g.56435944G>A	ENSP00000328326:p.Ala371Thr						p.A371T	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1211	+			371					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1111G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901575	0.92035	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.65732	-0.17	5.56	5.56	0.83823	.	0.049605	0.85682	D	0.000000	T	0.79604	0.4474	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80670	-0.1279	10	0.66056	D	0.02	-15.6001	19.531	0.95230	0.0:0.0:1.0:0.0	.	371	Q5GH76	XKR4_HUMAN	T	371	ENSP00000328326:A371T	ENSP00000328326:A371T	A	+	1	0	XKR4	56598498	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.869000	0.99810	2.614000	0.88457	0.557000	0.71058	GCC		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		7	100	0	0	0	1	0	7	100				
DGCR5	26220	broad.mit.edu	37	22	19002009	19002009	+	RNA	SNP	G	G	T	rs56157180	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:19002009G>T	ENST00000440005.2	+	0	828				DGCR5_ENST00000424407.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		ACAAATCCAAGATTAGCACAG	0.458													G|||	1076	0.214856	0.2526	0.1542	5008	,	,		19334	0.1637		0.159	False		,,,				2504	0.317					ENST00000440005.2																			0																																																			26220							g.chr22:19002009G>T	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.19002009G>T						DGCR5_ENST00000424407.1_RNA								0	828	+									RNA	SNP	ENST00000440005.2	37																																																																																						0.458	DGCR5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000314911.3	NR_002733		3	32	1	0	2.56e-06	1	2.77371e-06	3	32				
USP17L2	377630	broad.mit.edu	37	8	11994694	11994694	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:11994694G>C	ENST00000333796.3	-	1	1892	c.1576C>G	c.(1576-1578)Ctg>Gtg	p.L526V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	526	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACACAAGCAGAGCCCTCTTG	0.572																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1576-1578)Ctg>Gtg		ubiquitin specific peptidase 17-like family member 2							69.0	80.0	77.0					8																	11994694		1477	3036	4513	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994694G>C	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1576C>G	8.37:g.11994694G>C	ENSP00000333329:p.Leu526Val					FAM66D_ENST00000434078.2_RNA	p.L526V	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1892	-			526						Missense_Mutation	SNP	ENST00000333796.3	37	c.1576C>G	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	4.345	0.063388	0.08388	.	.	ENSG00000223443	ENST00000333796	T	0.14266	2.52	0.36	0.36	0.16097	.	3.788640	0.01358	N	0.012157	T	0.11024	0.0269	L	0.32530	0.975	0.09310	N	1	B	0.30824	0.296	B	0.19946	0.027	T	0.28267	-1.0049	9	0.51188	T	0.08	.	.	.	.	.	526	Q6R6M4	U17L2_HUMAN	V	526	ENSP00000333329:L526V	ENSP00000333329:L526V	L	-	1	2	USP17L2	12032103	0.001000	0.12720	0.019000	0.16419	0.018000	0.09664	-0.503000	0.06383	0.469000	0.27268	0.472000	0.43445	CTG		0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		9	87	0	0	0	1	0	9	87				
HS3ST1	9957	broad.mit.edu	37	4	11401039	11401039	+	Silent	SNP	G	G	A	rs138931078	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:11401039G>A	ENST00000002596.5	-	2	1765	c.591C>T	c.(589-591)caC>caT	p.H197H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	197					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCATGTGCACGTGGTAGAGGC	0.597																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(589-591)caC>caT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							61.0	57.0	59.0					4																	11401039		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401039G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.591C>T	4.37:g.11401039G>A							p.H197H	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1765	-			197					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.591C>T	CCDS3408.1																																																																																				0.597	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		6	44	0	0	0	1	0	6	44				
H2AFZ	3015	broad.mit.edu	37	4	100869668	100869668	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:100869668T>C	ENST00000296417.5	-	5	555	c.338A>G	c.(337-339)cAc>cGc	p.H113R	RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000471738.1_5'Flank|DNAJB14_ENST00000442697.2_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	113					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TTTGTGGATGTGTGGAATGAC	0.368																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(337-339)cAc>cGc		H2A histone family, member Z							85.0	82.0	83.0					4																	100869668		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100869668T>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.338A>G	4.37:g.100869668T>C	ENSP00000296417:p.His113Arg					H2AFZ_ENST00000529158.1_5'UTR	p.H113R	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	5	555	-			113					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.338A>G	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970250	0.53614	.	.	ENSG00000164032	ENST00000296417	D	0.83250	-1.7	5.22	5.22	0.72569	Histone-fold (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.85462	2.755	0.80722	D	1	P	0.48162	0.906	B	0.36808	0.233	D	0.87135	0.2199	10	0.87932	D	0	-33.8746	15.1212	0.72443	0.0:0.0:0.0:1.0	.	113	P0C0S5	H2AZ_HUMAN	R	113	ENSP00000296417:H113R	ENSP00000296417:H113R	H	-	2	0	H2AFZ	101088691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.204000	0.77872	1.967000	0.57214	0.533000	0.62120	CAC		0.368	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		9	90	0	0	0	1	0	9	90				
GYG2	8908	broad.mit.edu	37	X	2793882	2793882	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:2793882C>T	ENST00000381163.3	+	10	1445	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	GYG2_ENST00000338623.5_Missense_Mutation_p.A388V|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.A357V	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	388					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGACTCCTGCCGTGATAACG	0.433																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1162-1164)gCc>gTc		glycogenin 2							118.0	86.0	97.0					X																	2793882		2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2793882C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1163C>T	X.37:g.2793882C>T	ENSP00000370555:p.Ala388Val					GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.A388V|GYG2_ENST00000398806.3_Missense_Mutation_p.A357V|GYG2_ENST00000381161.1_Intron	p.A388V	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			10	1445	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	388					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.1163C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533878	0.27387	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623	T;T;T	0.50548	0.74;1.05;0.97	2.22	2.22	0.28083	.	0.338420	0.20252	N	0.096055	T	0.46560	0.1399	L	0.27053	0.805	0.21386	N	0.9997	B;D;P;B;P	0.60575	0.361;0.988;0.816;0.426;0.465	B;D;B;B;B	0.75484	0.07;0.986;0.177;0.142;0.081	T	0.31447	-0.9943	10	0.12430	T	0.62	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	388;348;357;357;388	O15488-6;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;GLYG2_HUMAN	V	357;388;388	ENSP00000381786:A357V;ENSP00000370555:A388V;ENSP00000341273:A388V	ENSP00000341273:A388V	A	+	2	0	GYG2	2803882	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.626000	0.24492	1.160000	0.42584	0.508000	0.49915	GCC		0.433	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		5	29	0	0	0	1	0	5	29				
ESPL1	9700	broad.mit.edu	37	12	53680438	53680438	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53680438G>A	ENST00000257934.4	+	18	4009	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E	ESPL1_ENST00000552462.1_Silent_p.E1306E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1306					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGCTCAGAGCCCTCTAAGA	0.532																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3916-3918)gaG>gaA		extra spindle pole bodies homolog 1 (S. cerevisiae)							43.0	44.0	43.0					12																	53680438		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680438G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3918G>A	12.37:g.53680438G>A						ESPL1_ENST00000552462.1_Silent_p.E1306E	p.E1306E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			18	4009	+			1306						Silent	SNP	ENST00000257934.4	37	c.3918G>A	CCDS8852.1																																																																																				0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		6	57	0	0	0	1	0	6	57				
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:48985612G>C	ENST00000378434.4	-	7	2572	c.948C>G	c.(946-948)ttC>ttG	p.F316L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(946-948)ttC>ttG		lysophosphatidic acid receptor 6							77.0	82.0	80.0					13																	48985612		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985612G>C	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.948C>G	13.37:g.48985612G>C	ENSP00000367691:p.Phe316Leu					RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L	p.F316L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	2572	-			316					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.948C>G	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437313	0.25900	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.62232	0.04;0.04	5.46	3.54	0.40534	.	0.243337	0.41605	D	0.000856	T	0.36608	0.0973	N	0.08118	0	0.40023	D	0.975434	B	0.23442	0.085	B	0.22386	0.039	T	0.10382	-1.0632	10	0.11485	T	0.65	.	10.0172	0.42022	0.2094:0.0:0.7906:0.0	.	316	P43657	LPAR6_HUMAN	L	316	ENSP00000367691:F316L;ENSP00000344353:F316L	ENSP00000344353:F316L	F	-	3	2	LPAR6	47883613	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	2.277000	0.43417	0.647000	0.30713	0.455000	0.32223	TTC		0.338	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		14	82	0	0	0	1	0	14	82				
NPY	4852	broad.mit.edu	37	7	24324938	24324938	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24324938G>A	ENST00000407573.1	+	3	369	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NPY_ENST00000405982.1_Missense_Mutation_p.E27K|NPY_ENST00000242152.2_Missense_Mutation_p.E27K			P01303	NPY_HUMAN	neuropeptide Y	27					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGCGCTGGCCGAGGCGTACCC	0.642																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(79-81)Gag>Aag		neuropeptide Y							83.0	66.0	72.0					7																	24324938		2203	4299	6502	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324938G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.79G>A	7.37:g.24324938G>A	ENSP00000384364:p.Glu27Lys					NPY_ENST00000405982.1_Missense_Mutation_p.E27K|NPY_ENST00000242152.2_Missense_Mutation_p.E27K	p.E27K			P01303	NPY_HUMAN			3	369	+			27						Missense_Mutation	SNP	ENST00000407573.1	37	c.79G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825056	0.90955	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.12774	2.65;2.65;2.65	5.57	5.57	0.84162	.	0.045258	0.85682	D	0.000000	T	0.14570	0.0352	.	.	.	0.80722	D	1	P	0.36065	0.535	B	0.29077	0.098	T	0.02009	-1.1230	9	0.56958	D	0.05	-12.5695	19.542	0.95278	0.0:0.0:1.0:0.0	.	27	P01303	NPY_HUMAN	K	27	ENSP00000242152:E27K;ENSP00000384364:E27K;ENSP00000385282:E27K	ENSP00000242152:E27K	E	+	1	0	NPY	24291463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	2.622000	0.88805	0.655000	0.94253	GAG		0.642	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		5	55	0	0	0	1	0	5	55				
DDX19B	11269	broad.mit.edu	37	16	70367483	70367483	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:70367483T>G	ENST00000288071.6	+	12	1683	c.1438T>G	c.(1438-1440)Tga>Gga	p.*480G	RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AATAGCCAACTGAGAAGCTCC	0.537																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(1438-1440)Tga>Gga		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							90.0	91.0	91.0					16																	70367483		2198	4297	6495	SO:0001578	stop_lost	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70367483T>G	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1438T>G	16.37:g.70367483T>G	ENSP00000288071:p.*480Glyext*36					DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G	p.*480G	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			12	1683	+		Ovarian(137;0.0694)	0					B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Nonstop_Mutation	SNP	ENST00000288071.6	37	c.1438T>G	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996142	0.74703	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.074	0.59077	0.0:0.0:0.0:1.0	.	.	.	.	G	454;449;371;480	.	.	X	+	1	0	DDX19B	68924984	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.184000	0.77705	2.198000	0.70561	0.533000	0.62120	TGA		0.537	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		9	136	0	0	0	1	0	9	136				
PCDHA10	56139	broad.mit.edu	37	5	140236323	140236323	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140236323G>C	ENST00000307360.5	+	1	690	c.690G>C	c.(688-690)ctG>ctC	p.L230L	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L230L|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	230	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGATCCTGGTGTTAGATG	0.418																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(688-690)ctG>ctC									113.0	106.0	108.0					5																	140236323		2197	4273	6470	SO:0001819	synonymous_variant	56139							g.chr5:140236323G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.690G>C	5.37:g.140236323G>C						PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.L230L	p.L230L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	690	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.690G>C	CCDS54921.1																																																																																				0.418	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		8	132	0	0	0	1	0	8	132				
CCDC78	124093	broad.mit.edu	37	16	774185	774185	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:774185G>A	ENST00000293889.6	-	10	1079	c.974C>T	c.(973-975)gCt>gTt	p.A325V	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	325					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTCAAAAATAGCTTGGGGGTT	0.592																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(973-975)gCt>gTt		coiled-coil domain containing 78							58.0	69.0	65.0					16																	774185		2199	4299	6498	SO:0001583	missense	124093							g.chr16:774185G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.974C>T	16.37:g.774185G>A	ENSP00000293889:p.Ala325Val						p.A325V	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			10	1079	-		Hepatocellular(780;0.0218)	325					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.974C>T	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246997	0.39697	.	.	ENSG00000162004	ENST00000293889	T	0.47869	0.83	4.39	4.39	0.52855	.	0.547615	0.16793	N	0.199286	T	0.55401	0.1918	L	0.48642	1.525	0.09310	N	1	D;D;D	0.67145	0.992;0.996;0.992	P;P;P	0.59889	0.865;0.865;0.865	T	0.44421	-0.9329	10	0.28530	T	0.3	-4.367	13.1753	0.59624	0.0:0.0:1.0:0.0	.	84;325;174	D3DU63;A2IDD5;D3DU61	.;CCD78_HUMAN;.	V	325	ENSP00000293889:A325V	ENSP00000293889:A325V	A	-	2	0	CCDC78	714186	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.292000	0.19011	2.383000	0.81215	0.561000	0.74099	GCT		0.592	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		7	79	0	0	0	1	0	7	79				
NEURL4	84461	broad.mit.edu	37	17	7227188	7227188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7227188C>T	ENST00000399464.2	-	12	2221	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T|NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	736	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCGGAGGGCGGTGCGGCCC	0.622											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2206-2208)Gcc>Acc		neuralized E3 ubiquitin protein ligase 4							72.0	84.0	80.0					17																	7227188		2094	4215	6309	SO:0001583	missense	84461							g.chr17:7227188C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2206G>A	17.37:g.7227188C>T	ENSP00000382390:p.Ala736Thr		OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T	p.A736T	NM_032442.2	NP_115818.2					12	2221	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.2206G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158582	0.94686	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.74632	0.83;-0.86	5.7	5.7	0.88788	NEUZ (3);	0.057888	0.64402	D	0.000002	D	0.90160	0.6925	M	0.93241	3.395	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92078	0.5670	10	0.72032	D	0.01	-19.8635	18.6186	0.91313	0.0:1.0:0.0:0.0	.	736;736	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	736	ENSP00000319826:A736T;ENSP00000382390:A736T	ENSP00000319826:A736T	A	-	1	0	NEURL4	7167912	1.000000	0.71417	0.272000	0.24630	0.845000	0.48019	7.319000	0.79040	2.688000	0.91661	0.655000	0.94253	GCC		0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		6	89	0	0	0	1	0	6	89				
TLN1	7094	broad.mit.edu	37	9	35716472	35716472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35716472T>C	ENST00000314888.9	-	20	2893	c.2540A>G	c.(2539-2541)gAa>gGa	p.E847G	TLN1_ENST00000540444.1_Missense_Mutation_p.E847G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	847					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCACTTTCCCCCTCAGC	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2539-2541)gAa>gGa		talin 1							161.0	143.0	149.0					9																	35716472		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716472T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2540A>G	9.37:g.35716472T>C	ENSP00000316029:p.Glu847Gly					TLN1_ENST00000540444.1_Missense_Mutation_p.E847G	p.E847G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2893	-	all_epithelial(49;0.167)		847					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2540A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349706	0.82132	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70631	-0.5;-0.49	6.17	6.17	0.99709	.	0.102069	0.64402	D	0.000003	T	0.68504	0.3008	M	0.71581	2.175	0.80722	D	1	P	0.42827	0.791	B	0.33521	0.165	T	0.72988	-0.4124	10	0.51188	T	0.08	-27.0106	16.8222	0.85835	0.0:0.0:0.0:1.0	.	847	Q9Y490	TLN1_HUMAN	G	847	ENSP00000316029:E847G;ENSP00000442981:E847G	ENSP00000316029:E847G	E	-	2	0	TLN1	35706472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAA		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		6	128	0	0	0	1	0	6	128				
OR51B6	390058	broad.mit.edu	37	11	5373628	5373628	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5373628T>C	ENST00000380219.1	+	1	891	c.891T>C	c.(889-891)atT>atC	p.I297I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	297					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCAGATTCAGAGTGGCA	0.423																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(889-891)atT>atC		olfactory receptor, family 51, subfamily B, member 6							103.0	104.0	103.0					11																	5373628		2201	4297	6498	SO:0001819	synonymous_variant	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373628T>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.891T>C	11.37:g.5373628T>C						HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	p.I297I	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	891	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	297						Silent	SNP	ENST00000380219.1	37	c.891T>C	CCDS31379.1																																																																																				0.423	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		9	88	0	0	0	1	0	9	88				
TP53BP1	7158	broad.mit.edu	37	15	43720272	43720272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43720272C>T	ENST00000263801.3	-	18	4007	c.3755G>A	c.(3754-3756)cGt>cAt	p.R1252H	TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1252					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTAATGACACGAGTGACAAG	0.423								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3754-3756)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							232.0	210.0	218.0					15																	43720272		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43720272C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3755G>A	15.37:g.43720272C>T	ENSP00000263801:p.Arg1252His					TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H	p.R1252H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	18	4007	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1252					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3755G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592239	0.96590	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.26518	2.01;2.0;1.73;1.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.19063	-1.0317	10	0.51188	T	0.08	-11.9374	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1257;1252;1257;1257	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	1252;1257;1257;1257	ENSP00000263801:R1252H;ENSP00000371475:R1257H;ENSP00000371470:R1257H;ENSP00000393497:R1257H	ENSP00000263801:R1252H	R	-	2	0	TP53BP1	41507564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.747000	0.94245	0.650000	0.86243	CGT		0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			12	138	0	0	0	1	0	12	138				
MPDZ	8777	broad.mit.edu	37	9	13121863	13121863	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:13121863C>G	ENST00000319217.7	-	38	5353	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1702	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCGCACTCTCTGTGGCGTCT	0.498																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(5104-5106)caG>caC		multiple PDZ domain protein							89.0	84.0	86.0					9																	13121863		2018	4200	6218	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13121863C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5106G>C	9.37:g.13121863C>G	ENSP00000320006:p.Gln1702His					MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H	p.Q1702H	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	38	5353	-			1702			PDZ 10.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5106G>C		.	.	.	.	.	.	.	.	.	.	C	13.76	2.333820	0.41297	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.39229	1.63;1.63;1.63;1.09;1.63;1.63;1.63;1.63;1.63;1.63	5.91	-10.5	0.00291	PDZ/DHR/GLGF (4);	0.000000	0.44902	D	0.000407	T	0.34861	0.0912	L	0.37630	1.12	0.58432	D	0.999999	B;B;B;B;B;B;B	0.31548	0.263;0.046;0.021;0.032;0.328;0.222;0.021	B;B;B;B;P;B;B	0.44394	0.312;0.07;0.103;0.075;0.448;0.208;0.103	T	0.56323	-0.7998	10	0.49607	T	0.09	.	14.9028	0.70692	0.0:0.5637:0.0785:0.3578	.	1669;561;407;1669;1582;1702;1702	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	H	1702;1702;1702;243;638;561;1669;1669;1702;1582;1716	ENSP00000320006:Q1702H;ENSP00000439807:Q1702H;ENSP00000370410:Q1702H;ENSP00000415964:Q243H;ENSP00000444230:Q638H;ENSP00000444717:Q561H;ENSP00000444151:Q1669H;ENSP00000415208:Q1669H;ENSP00000370403:Q1702H;ENSP00000446358:Q1716H	ENSP00000320006:Q1702H	Q	-	3	2	MPDZ	13111863	0.008000	0.16893	0.173000	0.22940	0.919000	0.55068	-1.013000	0.03645	-1.860000	0.01154	-0.150000	0.13652	CAG		0.498	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		4	40	0	0	0	1	0	4	40				
DFNA5	1687	broad.mit.edu	37	7	24789321	24789321	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:24789321G>C	ENST00000342947.3	-	2	498	c.73C>G	c.(73-75)Ctg>Gtg	p.L25V	DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000545231.1_De_novo_Start_OutOfFrame	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	25					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAGTCATTCAGATTTGATACT	0.403																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19								deafness, autosomal dominant 5							158.0	165.0	163.0					7																	24789321		2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24789321G>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.73C>G	7.37:g.24789321G>C	ENSP00000339587:p.Leu25Val					DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000342947.3_Missense_Mutation_p.L25V|DFNA5_ENST00000409970.1_Intron				O60443	DFNA5_HUMAN			0	731	-								A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Translation_Start_Site	SNP	ENST00000342947.3	37		CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257888	0.59321	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.59224	0.28;0.28	5.54	-0.245	0.13027	.	0.137894	0.50627	D	0.000117	T	0.71651	0.3365	M	0.81497	2.545	0.80722	D	1	D;D	0.56968	0.978;0.978	P;D	0.68765	0.86;0.96	T	0.72924	-0.4144	10	0.72032	D	0.01	-13.3601	10.689	0.45860	0.5576:0.0:0.4424:0.0	.	25;25	A4FTY0;O60443	.;DFNA5_HUMAN	V	25	ENSP00000339587:L25V;ENSP00000386670:L25V	ENSP00000339587:L25V	L	-	1	2	DFNA5	24755846	0.467000	0.25831	0.970000	0.41538	0.993000	0.82548	0.500000	0.22562	0.080000	0.16959	-0.290000	0.09829	CTG		0.403	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		22	148	0	0	0	1	0	22	148				
RERE	473	broad.mit.edu	37	1	8421258	8421258	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8421258G>A	ENST00000337907.3	-	19	2943	c.2309C>T	c.(2308-2310)gCc>gTc	p.A770V	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.A216V|RERE_ENST00000377464.1_Missense_Mutation_p.A502V|RERE_ENST00000400908.2_Missense_Mutation_p.A770V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	770	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACTGCAGTGGCAGAGGGCGT	0.706																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2308-2310)gCc>gTc		arginine-glutamic acid dipeptide (RE) repeats							9.0	11.0	11.0					1																	8421258		2171	4253	6424	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8421258G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2309C>T	1.37:g.8421258G>A	ENSP00000338629:p.Ala770Val					RERE_ENST00000476556.1_Missense_Mutation_p.A216V|RERE_ENST00000377464.1_Missense_Mutation_p.A502V|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.A770V	p.A770V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	2943	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	770			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.2309C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310561	0.23821	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.48836	0.8;0.82;0.8	5.3	-2.31	0.06765	.	.	.	.	.	T	0.33147	0.0853	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.32268	-0.9913	9	0.33940	T	0.23	-2.9384	0.4933	0.00567	0.3136:0.1694:0.3094:0.2075	.	502;770	B1AKN3;Q9P2R6	.;RERE_HUMAN	V	770;502;216;770	ENSP00000338629:A770V;ENSP00000366684:A502V;ENSP00000383700:A770V	ENSP00000338629:A770V	A	-	2	0	RERE	8343845	0.054000	0.20591	0.000000	0.03702	0.023000	0.10783	0.977000	0.29475	-0.149000	0.11215	0.561000	0.74099	GCC		0.706	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	14	0	0	0	1	0	3	14				
ITIH2	3698	broad.mit.edu	37	10	7765488	7765488	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:7765488C>T	ENST00000358415.4	+	9	1108	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ITIH2_ENST00000379587.4_Silent_p.V303V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|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)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCTCTTTGTCATCGATGTGA	0.433																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(940-942)gtC>gtT		inter-alpha-trypsin inhibitor heavy chain 2							134.0	116.0	122.0					10																	7765488		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7765488C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.942C>T	10.37:g.7765488C>T						ITIH2_ENST00000379587.4_Silent_p.V303V	p.V314V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			9	1108	+			314			VWFA.		Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.942C>T	CCDS31141.1																																																																																				0.433	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		5	76	0	0	0	1	0	5	76				
FLNA	2316	broad.mit.edu	37	X	153577807	153577807	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153577807A>G	ENST00000369850.3	-	47	7915	c.7679T>C	c.(7678-7680)gTg>gCg	p.V2560A	FLNA_ENST00000422373.1_Missense_Mutation_p.V2552A|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A|FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2560	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGCCACCACCTTGCTGGC	0.652																																						ENST00000422373.1																			0				breast(6)	6						c.(7654-7656)gTg>gCg		filamin A, alpha							49.0	53.0	52.0					X																	153577807		1917	4109	6026	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577807A>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7679T>C	X.37:g.153577807A>G	ENSP00000358866:p.Val2560Ala					FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000369850.3_Missense_Mutation_p.V2560A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A	p.V2552A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			46	7903	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2560			Self-association site, tail.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7655T>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.874028	0.51695	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.92	5.92	0.95590	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.93795	0.8016	M	0.92459	3.31	0.53005	D	0.999966	B;B;D;D	0.71674	0.258;0.444;0.998;0.998	B;B;D;D	0.72625	0.055;0.219;0.978;0.978	D	0.94191	0.7441	10	0.42905	T	0.14	.	15.3297	0.74196	1.0:0.0:0.0:0.0	.	693;2552;2560;2560	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	A	2552;2228;2552;2560;693;2520	ENSP00000353467:V2552A;ENSP00000416926:V2552A;ENSP00000358866:V2560A;ENSP00000358872:V693A;ENSP00000358863:V2520A	ENSP00000358863:V2520A	V	-	2	0	FLNA	153231001	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	9.200000	0.95010	2.004000	0.58718	0.430000	0.28490	GTG		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	81	0	0	0	1	0	5	81				
NUTM2F	54754	broad.mit.edu	37	9	97084496	97084496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:97084496C>T	ENST00000253262.4	-	3	849	c.829G>A	c.(829-831)Gag>Aag	p.E277K	NUTM2F_ENST00000341207.4_Missense_Mutation_p.E277K|NUTM2F_ENST00000335456.7_Missense_Mutation_p.E277K	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	277																	TCCGCCATCTCGTAGAAGATC	0.642																																						ENST00000335456.7																			0											c.(829-831)Gag>Aag		NUT family member 2F							63.0	74.0	70.0					9																	97084496		1348	2607	3955	SO:0001583	missense	54754							g.chr9:97084496C>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.829G>A	9.37:g.97084496C>T	ENSP00000253262:p.Glu277Lys					NUTM2F_ENST00000341207.4_Missense_Mutation_p.E277K|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E277K	p.E277K							3	849	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.829G>A	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.400997	0.42613	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.36157	1.27;1.27;1.27	1.2	-0.837	0.10766	Nuclear Testis  protein, N-terminal (1);	0.231551	0.30667	N	0.009139	T	0.48314	0.1493	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37663	-0.9696	10	0.87932	D	0	.	2.7677	0.05325	0.0:0.4851:0.3029:0.212	.	277	A1L443	FA22F_HUMAN	K	277	ENSP00000335067:E277K;ENSP00000253262:E277K;ENSP00000343865:E277K	ENSP00000253262:E277K	E	-	1	0	FAM22F	96124317	0.996000	0.38824	0.044000	0.18714	0.325000	0.28411	0.279000	0.18771	-0.269000	0.09298	-1.676000	0.00740	GAG		0.642	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		10	102	0	0	0	1	0	10	102				
SLC25A14	9016	broad.mit.edu	37	X	129483264	129483264	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:129483264C>A	ENST00000218197.5	+	4	584	c.357C>A	c.(355-357)acC>acA	p.T119T	SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000543953.1_Silent_p.T84T|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Silent_p.T119T|SLC25A14_ENST00000361980.5_Silent_p.T116T	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	119					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CATATGGCACCATTAAAATTG	0.343																																						ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(250-252)acC>acA		solute carrier family 25 (mitochondrial carrier, brain), member 14							125.0	100.0	108.0					X																	129483264		2203	4300	6503	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129483264C>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.357C>A	X.37:g.129483264C>A						SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.T116T|SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000218197.5_Silent_p.T119T|SLC25A14_ENST00000545805.1_Silent_p.T119T	p.T84T			O95258	UCP5_HUMAN			4	301	+			119					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.252C>A	CCDS14623.1																																																																																				0.343	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		8	72	1	0	7.48243e-07	1	8.13597e-07	8	72				
ARHGAP44	9912	broad.mit.edu	37	17	12847469	12847469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:12847469G>A	ENST00000379672.5	+	10	1117	c.817G>A	c.(817-819)Gag>Aag	p.E273K	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E273K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E273K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	273	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CTTCCCCATCGAGGCGTGTGT	0.642																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(817-819)Gag>Aag		Rho GTPase activating protein 44							53.0	64.0	60.0					17																	12847469		2116	4239	6355	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847469G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.817G>A	17.37:g.12847469G>A	ENSP00000368994:p.Glu273Lys					ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E273K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E273K	p.E273K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			10	1117	+			273			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.817G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822343	0.71028	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.37058	1.22;1.22	5.57	5.57	0.84162	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.61426	-0.7065	10	0.87932	D	0	.	17.4003	0.87458	0.0:0.0:1.0:0.0	.	273;273	A6NCP5;Q17R89	.;RHG44_HUMAN	K	273	ENSP00000368994:E273K;ENSP00000342566:E273K	ENSP00000342566:E273K	E	+	1	0	ARHGAP44	12788194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.781000	0.95711	0.655000	0.94253	GAG		0.642	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		8	44	0	0	0	1	0	8	44				
PC	5091	broad.mit.edu	37	11	66638348	66638348	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66638348A>G	ENST00000393958.2	-	7	742	c.649T>C	c.(649-651)Tac>Cac	p.Y217H	PC_ENST00000524491.1_Missense_Mutation_p.Y177H|PC_ENST00000355677.3_Missense_Mutation_p.Y217H|PC_ENST00000393960.1_Missense_Mutation_p.Y217H|PC_ENST00000393955.2_Missense_Mutation_p.Y217H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	217	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCCGGGTGTAATTCTCCTCC	0.617																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(649-651)Tac>Cac		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						90.0	106.0	101.0					11																	66638348		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638348A>G	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.649T>C	11.37:g.66638348A>G	ENSP00000377530:p.Tyr217His					PC_ENST00000355677.3_Missense_Mutation_p.Y217H|PC_ENST00000524491.1_Missense_Mutation_p.Y177H|PC_ENST00000393958.2_Missense_Mutation_p.Y217H|PC_ENST00000393955.2_Missense_Mutation_p.Y217H	p.Y217H	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	8	930	-		Melanoma(852;0.0525)	217			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.649T>C	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666548	0.88251	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56;-4.56	5.29	5.29	0.74685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.070141	0.64402	D	0.000018	D	0.97666	0.9235	L	0.58583	1.82	0.54753	D	0.999984	D	0.53151	0.958	P	0.57204	0.815	D	0.98175	1.0454	10	0.87932	D	0	-26.4474	13.176	0.59626	1.0:0.0:0.0:0.0	.	217	P11498	PYC_HUMAN	H	217;217;217;177;217	ENSP00000377527:Y217H;ENSP00000377530:Y217H;ENSP00000377532:Y217H;ENSP00000434192:Y177H;ENSP00000347900:Y217H	ENSP00000347900:Y217H	Y	-	1	0	PC	66394924	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.627000	0.74258	2.008000	0.58898	0.379000	0.24179	TAC		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		10	140	0	0	0	1	0	10	140				
HTR1B	3351	broad.mit.edu	37	6	78173080	78173080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:78173080G>A	ENST00000369947.2	-	1	410	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	14					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCGGAGCCCGCGGGCGGCGG	0.642																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(40-42)gCg>gTg		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						65.0	69.0	68.0					6																	78173080		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78173080G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.41C>T	6.37:g.78173080G>A	ENSP00000358963:p.Ala14Val						p.A14V	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	410	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	14					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.41C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315695	0.23908	.	.	ENSG00000135312	ENST00000369947	T	0.61859	0.07	5.31	1.33	0.21861	.	0.592084	0.14695	N	0.303937	T	0.15219	0.0367	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25676	-1.0125	9	.	.	.	.	5.2582	0.15558	0.2516:0.1476:0.6008:0.0	.	14	P28222	5HT1B_HUMAN	V	14	ENSP00000358963:A14V	.	A	-	2	0	HTR1B	78229799	0.159000	0.22864	0.042000	0.18584	0.155000	0.21991	1.614000	0.36911	0.251000	0.21505	-0.258000	0.10820	GCG		0.642	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		13	79	0	0	0	1	0	13	79				
SYNE1	23345	broad.mit.edu	37	6	152765550	152765550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152765550T>C	ENST00000367255.5	-	30	4434	c.3833A>G	c.(3832-3834)cAc>cGc	p.H1278R	SYNE1_ENST00000367253.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1268R|SYNE1_ENST00000413186.2_Missense_Mutation_p.H1278R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1344R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1285R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1278					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTACCTGGTGATGAAGAAG	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3832-3834)cAc>cGc		spectrin repeat containing, nuclear envelope 1							124.0	123.0	123.0					6																	152765550		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152765550T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3833A>G	6.37:g.152765550T>C	ENSP00000356224:p.His1278Arg	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.H1278R|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1344R|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1268R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1285R	p.H1278R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	30	4434	-		Ovarian(120;0.0955)	1278					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3833A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752083	0.89753	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88277	0.57;0.57;0.48;0.57;0.62;-2.21;-2.36;-2.35	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	D	0.90721	0.7088	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.984;0.991;0.997;0.984;0.991	P;P;P;D;P;P	0.63113	0.844;0.575;0.845;0.911;0.575;0.845	D	0.88651	0.3182	10	0.21014	T	0.42	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	1261;1278;1268;1278;1278;1285	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	R	1278;1285;1278;1285;1344;1278;1268;1278	ENSP00000356224:H1278R;ENSP00000396024:H1285R;ENSP00000265368:H1278R;ENSP00000390975:H1285R;ENSP00000341887:H1344R;ENSP00000356222:H1278R;ENSP00000356217:H1268R;ENSP00000414510:H1278R	ENSP00000265368:H1278R	H	-	2	0	SYNE1	152807243	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.474000	0.81024	2.279000	0.76181	0.533000	0.62120	CAC		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	120	0	0	0	1	0	9	120				
PCDHA9	9752	broad.mit.edu	37	5	140230192	140230192	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140230192C>T	ENST00000532602.1	+	1	3145	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.I704I|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	704					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2110-2112)atC>atT									82.0	74.0	77.0					5																	140230192		2196	4274	6470	SO:0001819	synonymous_variant	9752							g.chr5:140230192C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2112C>T	5.37:g.140230192C>T						PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.I704I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	p.I704I	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2836	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2112C>T	CCDS54920.1																																																																																				0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	87	0	0	0	1	0	9	87				
TJP3	27134	broad.mit.edu	37	19	3747953	3747953	+	Silent	SNP	G	G	A	rs571353377		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3747953G>A	ENST00000541714.2	+	19	2946	c.2484G>A	c.(2482-2484)ggG>ggA	p.G828G	TJP3_ENST00000382008.3_Silent_p.G842G|TJP3_ENST00000587686.1_Silent_p.G847G|TJP3_ENST00000589378.1_Silent_p.G837G|TJP3_ENST00000262968.9_Silent_p.G861G|TJP3_ENST00000539908.2_Silent_p.G792G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	828					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGGGGGGCCCTACACGG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		15002	0.0		0.0	False		,,,				2504	0.001					ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2482-2484)ggG>ggA		tight junction protein 3							23.0	23.0	23.0					19																	3747953		2198	4297	6495	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3747953G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2484G>A	19.37:g.3747953G>A						TJP3_ENST00000589378.1_Silent_p.G837G|TJP3_ENST00000382008.3_Silent_p.G842G|TJP3_ENST00000587686.1_Silent_p.G847G|TJP3_ENST00000539908.2_Silent_p.G792G|TJP3_ENST00000262968.9_Silent_p.G861G	p.G828G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2946	+			842					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.2484G>A	CCDS32873.2																																																																																				0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			4	26	0	0	0	1	0	4	26				
PSD3	23362	broad.mit.edu	37	8	18729698	18729698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18729698G>A	ENST00000327040.8	-	3	778	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.Q226*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCTCTGCCTGAGTGTCTCCA	0.473																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(676-678)Cag>Tag		pleckstrin and Sec7 domain containing 3							102.0	99.0	100.0					8																	18729698		1908	4119	6027	SO:0001587	stop_gained	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729698G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.676C>T	8.37:g.18729698G>A	ENSP00000324127:p.Gln226*					PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.Q226*	p.Q226*			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	778	-			226					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	c.676C>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880984	0.97908	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	.	.	.	6.06	5.19	0.71726	.	0.991334	0.08195	N	0.983160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.9	0.58121	0.0777:0.0:0.9223:0.0	.	.	.	.	X	226;226;161	.	ENSP00000324127:Q226X	Q	-	1	0	PSD3	18773978	1.000000	0.71417	0.305000	0.25099	0.854000	0.48673	3.738000	0.55067	1.579000	0.49836	0.655000	0.94253	CAG		0.473	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		6	141	0	0	0	1	0	6	141				
AHNAK	79026	broad.mit.edu	37	11	62301181	62301181	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62301181G>C	ENST00000378024.4	-	5	982	c.708C>G	c.(706-708)ctC>ctG	p.L236L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	236					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCACCTTGGAGCTCTGGTC	0.602																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(706-708)ctC>ctG		AHNAK nucleoprotein							73.0	73.0	73.0					11																	62301181		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301181G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.708C>G	11.37:g.62301181G>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L236L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	982	-		Melanoma(852;0.155)	236					A1A586	Silent	SNP	ENST00000378024.4	37	c.708C>G	CCDS31584.1																																																																																				0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	98	0	0	0	1	0	5	98				
LILRA2	11027	broad.mit.edu	37	19	55086049	55086049	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:55086049G>T	ENST00000251377.3	+	4	485	c.352G>T	c.(352-354)Gga>Tga	p.G118*	LILRA2_ENST00000251376.3_Splice_Site_p.G118*|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Splice_Site_p.G106*|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Splice_Site_p.G118*|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	118	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGTGGTGACAGGTGAGAGGAC	0.607																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.e4+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							67.0	61.0	63.0					19																	55086049		2203	4300	6503	SO:0001630	splice_region_variant	11027							g.chr19:55086049G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.352+1G>T	19.37:g.55086049G>T						LILRA2_ENST00000391737.1_Splice_Site_p.G106_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Splice_Site_p.G118_splice|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Splice_Site_p.G118_splice|LILRB1_ENST00000396321.2_Intron	p.G118_splice						GBM - Glioblastoma multiforme(193;0.0963)	4	485	+								O75020	Splice_Site	SNP	ENST00000251377.3	37	c.352_splice	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955235	0.73902	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.93	2.93	0.34026	.	0.275088	0.25654	N	0.029198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5397	0.39244	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;106	.	ENSP00000251376:G118X	G	+	1	0	LILRA2	59777861	1.000000	0.71417	0.828000	0.32881	0.496000	0.33645	2.215000	0.42862	1.643000	0.50594	0.508000	0.49915	GGA		0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Nonsense_Mutation	7	66	1	0	5.18039e-06	1	5.59299e-06	7	66				
VCPIP1	80124	broad.mit.edu	37	8	67578144	67578144	+	Silent	SNP	G	G	A	rs117246146		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:67578144G>A	ENST00000310421.4	-	1	1308	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	350	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGTTTCTACCGGAGCTGCTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21589	0.0		0.001	False		,,,				2504	0.0				NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1048-1050)tcC>tcT		valosin containing protein (p97)/p47 complex interacting protein 1		G		0,4406		0,0,2203	88.0	89.0	89.0		1050	2.2	1.0	8	dbSNP_133	89	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	VCPIP1	NM_025054.4		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		350/1223	67578144	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578144G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1050C>T	8.37:g.67578144G>A							p.S350S	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1308	-		Lung NSC(129;0.142)|all_lung(136;0.227)	350			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.1050C>T	CCDS6192.1																																																																																				0.483	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			19	173	0	0	0	1	0	19	173				
OTUD6B	51633	broad.mit.edu	37	8	92083441	92083441	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:92083441C>T	ENST00000285420.4	+	2	347	c.248C>T	c.(247-249)gCc>gTc	p.A83V	OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000522817.1_RNA|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	53							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATGTGGCCAAGTTGGAA	0.393																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(247-249)gCc>gTc		OTU domain containing 6B							129.0	124.0	126.0					8																	92083441		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92083441C>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.248C>T	8.37:g.92083441C>T	ENSP00000285420:p.Ala83Val					OTUD6B_ENST00000404789.3_5'UTR	p.A83V	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		2	347	+			53					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.248C>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443909	0.63067	.	.	ENSG00000155100	ENST00000285420	D	0.95482	-3.72	5.73	4.85	0.62838	.	0.156699	0.56097	D	0.000028	D	0.96078	0.8722	M	0.81179	2.53	0.80722	D	1	P	0.47677	0.899	P	0.47299	0.543	D	0.95728	0.8772	10	0.52906	T	0.07	-4.6656	16.2244	0.82284	0.1339:0.8661:0.0:0.0	.	53	Q8N6M0	OTU6B_HUMAN	V	83	ENSP00000285420:A83V	ENSP00000285420:A83V	A	+	2	0	OTUD6B	92152617	1.000000	0.71417	0.967000	0.41034	0.003000	0.03518	7.163000	0.77524	1.416000	0.47057	0.561000	0.74099	GCC		0.393	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		12	67	0	0	0	1	0	12	67				
HCN1	348980	broad.mit.edu	37	5	45262736	45262736	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:45262736T>C	ENST00000303230.4	-	8	2017	c.1960A>G	c.(1960-1962)Acg>Gcg	p.T654A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	654					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCGGGGTCGTAGTAGACGAT	0.537																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1960-1962)Acg>Gcg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							190.0	180.0	183.0					5																	45262736		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262736T>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1960A>G	5.37:g.45262736T>C	ENSP00000307342:p.Thr654Ala						p.T654A	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2017	-			654						Missense_Mutation	SNP	ENST00000303230.4	37	c.1960A>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.731364	0.00687	.	.	ENSG00000164588	ENST00000303230	T	0.71103	-0.54	5.52	-1.26	0.09376	.	0.297613	0.28317	N	0.015781	T	0.45756	0.1358	N	0.22421	0.69	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.06891	T	0.86	.	8.03	0.30459	0.0:0.4029:0.114:0.4831	.	654	O60741	HCN1_HUMAN	A	654	ENSP00000307342:T654A	ENSP00000307342:T654A	T	-	1	0	HCN1	45298493	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	0.069000	0.14552	-0.451000	0.07097	-0.316000	0.08728	ACG		0.537	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		16	80	0	0	0	1	0	16	80				
ZSCAN18	65982	broad.mit.edu	37	19	58601680	58601680	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58601680A>T	ENST00000240727.6	-	0	354				ZSCAN18_ENST00000601144.1_De_novo_Start_OutOfFrame|ZSCAN18_ENST00000600404.1_Silent_p.P41P|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGGGACAAGGTGGCTCCA	0.602																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19								zinc finger and SCAN domain containing 18							21.0	25.0	24.0					19																	58601680		2194	4293	6487			65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601680A>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.-46T>A	19.37:g.58601680A>T						ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_De_novo_Start_OutOfFrame|ZSCAN18_ENST00000600404.1_Silent_p.P41P		NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	0	354	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)						B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Translation_Start_Site	SNP	ENST00000240727.6	37		CCDS12971.1																																																																																				0.602	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		4	10	0	0	0	1	0	4	10				
TMEM131	23505	broad.mit.edu	37	2	98409014	98409014	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:98409014C>T	ENST00000186436.5	-	31	4207	c.3979G>A	c.(3979-3981)Gca>Aca	p.A1327T		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1327	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGTGTGCGAGGGGGGCG	0.652																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(3979-3981)Gca>Aca		transmembrane protein 131							25.0	28.0	27.0					2																	98409014		2081	4206	6287	SO:0001583	missense	23505					integral to membrane		g.chr2:98409014C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3979G>A	2.37:g.98409014C>T	ENSP00000186436:p.Ala1327Thr						p.A1327T	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			31	4207	-			1327			Pro-rich.			Missense_Mutation	SNP	ENST00000186436.5	37	c.3979G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	3.495	-0.103021	0.06967	.	.	ENSG00000075568	ENST00000186436	T	0.18174	2.23	5.91	-2.6	0.06190	.	1.185640	0.05708	N	0.595468	T	0.07279	0.0184	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39881	-0.9592	10	0.13853	T	0.58	-0.1527	7.1554	0.25635	0.1181:0.3644:0.0:0.5175	.	1327	Q92545	TM131_HUMAN	T	1327	ENSP00000186436:A1327T	ENSP00000186436:A1327T	A	-	1	0	TMEM131	97775446	0.000000	0.05858	0.002000	0.10522	0.243000	0.25628	-0.115000	0.10741	-0.980000	0.03524	-0.794000	0.03295	GCA		0.652	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		3	15	0	0	0	1	0	3	15				
TMED3	23423	broad.mit.edu	37	15	79606297	79606297	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:79606297G>C	ENST00000299705.5	+	2	555	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	TMED3_ENST00000536821.1_Missense_Mutation_p.E123Q|TMED3_ENST00000424155.2_Missense_Mutation_p.E123Q	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	123					protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AGTGGGCGATGAGCCTCCCAT	0.522																																						ENST00000299705.5																			0				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						c.(367-369)Gag>Cag		transmembrane emp24 protein transport domain containing 3							101.0	92.0	95.0					15																	79606297		2196	4293	6489	SO:0001583	missense	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79606297G>C	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.367G>C	15.37:g.79606297G>C	ENSP00000299705:p.Glu123Gln					TMED3_ENST00000536821.1_Missense_Mutation_p.E123Q|TMED3_ENST00000424155.2_Missense_Mutation_p.E123Q	p.E123Q	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN			2	555	+			123					A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	ENST00000299705.5	37	c.367G>C	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965445	0.74131	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.7	4.7	0.59300	GOLD (2);	0.058167	0.64402	D	0.000002	T	0.35624	0.0938	L	0.59436	1.845	0.58432	D	0.999993	P;B	0.46395	0.877;0.256	P;B	0.54026	0.74;0.145	T	0.02371	-1.1169	10	0.42905	T	0.14	0.5308	15.505	0.75731	0.0:0.0:1.0:0.0	.	123;123	B4DN05;Q9Y3Q3	.;TMED3_HUMAN	Q	123	ENSP00000299705:E123Q;ENSP00000414983:E123Q;ENSP00000446062:E123Q;ENSP00000440228:E123Q	ENSP00000299705:E123Q	E	+	1	0	TMED3	77393352	1.000000	0.71417	0.968000	0.41197	0.954000	0.61252	9.130000	0.94437	2.578000	0.87016	0.655000	0.94253	GAG		0.522	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		5	92	0	0	0	1	0	5	92				
DNAH2	146754	broad.mit.edu	37	17	7701100	7701100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7701100C>G	ENST00000572933.1	+	53	9643	c.8183C>G	c.(8182-8184)tCt>tGt	p.S2728C	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2728	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCACCCTCTGTCGTGCCC	0.522																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8182-8184)tCt>tGt		dynein, axonemal, heavy chain 2							165.0	144.0	151.0					17																	7701100		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7701100C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8183C>G	17.37:g.7701100C>G	ENSP00000458355:p.Ser2728Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C	p.S2728C			Q9P225	DYH2_HUMAN			53	9643	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2728			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8183C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291254	0.40494	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.43294	0.95	4.84	3.82	0.43975	.	0.413848	0.24314	N	0.039613	T	0.50973	0.1647	M	0.64404	1.975	0.80722	D	1	B	0.30482	0.281	P	0.45660	0.489	T	0.55755	-0.8091	10	0.59425	D	0.04	.	10.6989	0.45915	0.0:0.7306:0.2693:0.0	.	2728	Q9P225	DYH2_HUMAN	C	2728	ENSP00000373825:S2728C	ENSP00000353818:S2728C	S	+	2	0	DNAH2	7641825	0.520000	0.26250	0.027000	0.17364	0.233000	0.25261	4.382000	0.59594	2.519000	0.84933	0.650000	0.86243	TCT		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		12	117	0	0	0	1	0	12	117				
CHST5	23563	broad.mit.edu	37	16	75563209	75563209	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75563209C>T	ENST00000336257.3	-	3	2468	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.A364A	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	358					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TGAAGGGCAACGCGTGGCGCC	0.652																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1072-1074)gcG>gcA		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							73.0	60.0	65.0					16																	75563209		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563209C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1074G>A	16.37:g.75563209C>T						CHST5_ENST00000541075.1_Silent_p.A364A|RP11-77K12.7_ENST00000460606.1_3'UTR	p.A358A	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2468	-			358					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.1074G>A	CCDS10919.1																																																																																				0.652	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		9	73	0	0	0	1	0	9	73				
HOXC13	3229	broad.mit.edu	37	12	54338828	54338828	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54338828C>T	ENST00000243056.3	+	2	937	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	261					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCGGCGCGGGCGCAAGAAACG	0.602			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(781-783)Cgc>Tgc		homeobox C13							75.0	82.0	80.0					12																	54338828		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338828C>T		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.781C>T	12.37:g.54338828C>T	ENSP00000243056:p.Arg261Cys						p.R261C	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN			2	937	+			261					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.781C>T	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668357	0.88348	.	.	ENSG00000123364	ENST00000243056	D	0.97352	-4.35	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98329	1.0532	10	0.87932	D	0	.	12.5597	0.56273	0.1666:0.8334:0.0:0.0	.	261	P31276	HXC13_HUMAN	C	261	ENSP00000243056:R261C	ENSP00000243056:R261C	R	+	1	0	HOXC13	52625095	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	2.369000	0.44231	2.755000	0.94549	0.655000	0.94253	CGC		0.602	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			12	111	0	0	0	1	0	12	111				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						ENST00000348035.4																			2	Substitution - Missense(2)	p.A159V(1)|p.A178V(1)	endometrium(2)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(475-477)gCg>gTg		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	p.A159V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	689	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		11	61	0	0	0	1	0	11	61				
ATP6V0A4	50617	broad.mit.edu	37	7	138394405	138394405	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138394405C>T	ENST00000310018.2	-	21	2675	c.2393G>A	c.(2392-2394)gGc>gAc	p.G798D	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	798					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAGAGAGGCCCTCCATGAT	0.562																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2392-2394)gGc>gAc		ATPase, H+ transporting, lysosomal V0 subunit a4							181.0	177.0	178.0					7																	138394405		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138394405C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2393G>A	7.37:g.138394405C>T	ENSP00000308122:p.Gly798Asp					ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D	p.G798D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			21	2675	-			798					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2393G>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376831	0.95945	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88201	-2.35;-2.35;-2.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97442	1.0022	10	0.87932	D	0	-23.94	19.8636	0.96797	0.0:1.0:0.0:0.0	.	798	Q9HBG4	VPP4_HUMAN	D	798	ENSP00000308122:G798D;ENSP00000376774:G798D;ENSP00000253856:G798D	ENSP00000308122:G798D	G	-	2	0	ATP6V0A4	138044945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.694000	0.91930	0.655000	0.94253	GGC		0.562	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		11	212	0	0	0	1	0	11	212				
SLC12A8	84561	broad.mit.edu	37	3	124839464	124839464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124839464G>A	ENST00000393469.4	-	6	852	c.803C>T	c.(802-804)tCc>tTc	p.S268F	SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.S297F	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	268					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						AGCTGCCAGGGAGCCCGGGGG	0.597																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(889-891)tCc>tTc		solute carrier family 12, member 8							24.0	27.0	26.0					3																	124839464		1953	4134	6087	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124839464G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.803C>T	3.37:g.124839464G>A	ENSP00000377112:p.Ser268Phe					SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S268F|SLC12A8_ENST00000465475.1_5'UTR	p.S297F			A0AV02	S12A8_HUMAN			7	889	-			268					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.890C>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688576	0.88639	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584;ENST00000479826	D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.62	5.62	0.85841	Amino acid permease domain (1);	.	.	.	.	D	0.98692	0.9561	L	0.50333	1.59	0.51482	D	0.99992	D;D;D;D;D	0.71674	0.997;0.998;0.991;0.978;0.996	D;D;P;P;D	0.70935	0.958;0.971;0.894;0.882;0.946	D	0.99899	1.1156	9	0.87932	D	0	.	17.4498	0.87589	0.0:0.0:1.0:0.0	.	160;21;297;268;69	B5MDT1;A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;.;S12A8_HUMAN;.	F	69;268;297;268;21;150	ENSP00000415713:S69F;ENSP00000377112:S268F;ENSP00000404243:S297F;ENSP00000418783:S268F;ENSP00000323632:S21F;ENSP00000420197:S150F	ENSP00000323632:S21F	S	-	2	0	SLC12A8	126322154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.236000	0.89805	2.634000	0.89283	0.655000	0.94253	TCC		0.597	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		3	25	0	0	0	1	0	3	25				
FMO5	2330	broad.mit.edu	37	1	146658581	146658581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:146658581C>T	ENST00000254090.4	-	9	1888	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	500						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTACTCTTGTCATCAGAGGCT	0.448																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(1498-1500)atG>atA		flavin containing monooxygenase 5							103.0	93.0	97.0					1																	146658581		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146658581C>T	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1500G>A	1.37:g.146658581C>T	ENSP00000254090:p.Met500Ile					FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_3'UTR	p.M500I	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			9	1888	-	all_hematologic(923;0.0487)		500					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1500G>A	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	14.13	2.443989	0.43429	.	.	ENSG00000131781	ENST00000254090	T	0.51817	0.69	5.8	3.89	0.44902	.	0.377447	0.32970	N	0.005435	T	0.21590	0.0520	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.25759	0.063	T	0.09185	-1.0686	10	0.72032	D	0.01	-5.3278	10.9422	0.47281	0.1469:0.7119:0.1412:0.0	.	500	P49326	FMO5_HUMAN	I	500	ENSP00000254090:M500I	ENSP00000254090:M500I	M	-	3	0	FMO5	145125205	0.983000	0.35010	0.991000	0.47740	0.809000	0.45718	0.879000	0.28146	0.755000	0.32990	0.655000	0.94253	ATG		0.448	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		7	71	0	0	0	1	0	7	71				
PALB2	79728	broad.mit.edu	37	16	23625399	23625399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:23625399C>A	ENST00000261584.4	-	11	3279	c.3127G>T	c.(3127-3129)Ggt>Tgt	p.G1043C	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1043	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.		G -> A (may be associated with breast cancer susceptibility; reduces interaction with BRCA2, RAD51C, RAD51 and XRCC3; decreases double-stranded DNA break-initiated homologous recombination; increases sensitivity to IR). {ECO:0000269|PubMed:21618343}.		DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGGAGTTGACCAGTTTTTAAA	0.343			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3127-3129)Ggt>Tgt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							98.0	84.0	89.0					16																	23625399		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23625399C>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3127G>T	16.37:g.23625399C>A	ENSP00000261584:p.Gly1043Cys					CTD-2196E14.3_ENST00000561764.1_RNA	p.G1043C	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	11	3279	-			1043			Interaction with RAD51 and BRCA2.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3127G>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612167	0.66672	.	.	ENSG00000083093	ENST00000261584	T	0.37752	1.18	5.95	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.59376	0.2189	M	0.77103	2.36	0.48975	D	0.999733	D	0.89917	1.0	D	0.97110	1.0	T	0.63985	-0.6513	10	0.87932	D	0	-15.1977	11.0958	0.48143	0.0:0.9153:0.0:0.0847	.	1043	Q86YC2	PALB2_HUMAN	C	1043	ENSP00000261584:G1043C	ENSP00000261584:G1043C	G	-	1	0	PALB2	23532900	0.968000	0.33430	0.991000	0.47740	0.980000	0.70556	4.387000	0.59626	1.529000	0.49120	0.650000	0.86243	GGT		0.343	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		3	31	1	0	0.004672	1	0.00476575	3	31				
SIK3	23387	broad.mit.edu	37	11	116730111	116730111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:116730111G>A	ENST00000292055.4	-	19	2352	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000375288.1_Missense_Mutation_p.R168C|SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.R831C	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	773	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGATGCCGCGCCCACTGGAG	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2491-2493)Cgc>Tgc		SIK family kinase 3							85.0	72.0	76.0					11																	116730111		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730111G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2317C>T	11.37:g.116730111G>A	ENSP00000292055:p.Arg773Cys		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.R773C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C|SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000375288.1_Missense_Mutation_p.R168C	p.R831C			Q9Y2K2	SIK3_HUMAN			19	2496	-			773			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2491C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.582192|3.582192	0.65992|0.65992	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.73575	.|-0.73;-0.76;0.72;-0.74;-0.36	5.43|5.43	3.47|3.47	0.39725|0.39725	.|.	.|0.000000	.|0.38111	.|U	.|0.001816	T|T	0.77164|0.77164	0.4090|0.4090	L|L	0.27053|0.27053	0.805|0.805	0.45046|0.45046	D|D	0.998062|0.998062	.|D;D;D;D;D	.|0.89917	.|1.0;0.996;0.984;1.0;0.997	.|D;P;P;D;P	.|0.87578	.|0.998;0.704;0.482;0.995;0.653	T|T	0.77885|0.77885	-0.2421|-0.2421	5|10	.|0.87932	.|D	.|0	.|.	11.9591|11.9591	0.52999|0.52999	0.0:0.0:0.684:0.3159|0.0:0.0:0.684:0.3159	.|.	.|773;773;672;773;168	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	V|C	872;795|831;773;168;773;672	.|ENSP00000364449:R831C;ENSP00000292055:R773C;ENSP00000364437:R168C;ENSP00000438108:R773C;ENSP00000415873:R672C	.|ENSP00000292055:R773C	A|R	-|-	2|1	0|0	SIK3|SIK3	116235321|116235321	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.763000|0.763000	0.43281|0.43281	6.006000|6.006000	0.70724|0.70724	0.584000|0.584000	0.29591|0.29591	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	47	0	0	0	1	0	6	47				
ZNF311	282890	broad.mit.edu	37	6	28962832	28962832	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:28962832G>A	ENST00000377179.3	-	7	2459	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	649					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCACTGGAGAGAGGGATTTCC	0.413																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1945-1947)ctC>ctT		zinc finger protein 311							106.0	80.0	89.0					6																	28962832		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28962832G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1947C>T	6.37:g.28962832G>A						ZNF311_ENST00000483450.1_5'UTR	p.L649L	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2459	-			649					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.1947C>T	CCDS34357.1																																																																																				0.413	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		4	44	0	0	0	1	0	4	44				
EDA	1896	broad.mit.edu	37	X	69255292	69255292	+	Missense_Mutation	SNP	G	G	A	rs191378148		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:69255292G>A	ENST00000374552.4	+	8	1251	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EDA_ENST00000374553.2_Missense_Mutation_p.E335K|EDA_ENST00000524573.1_Missense_Mutation_p.E332K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	337					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ACGCAGCATCGAGACGGGCAA	0.552													G|||	1	0.000264901	0.0	0.0	3775	,	,		14817	0.0		0.001	False		,,,				2504	0.0					ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1009-1011)Gag>Aag		ectodysplasin A							106.0	67.0	81.0					X																	69255292		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69255292G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.1009G>A	X.37:g.69255292G>A	ENSP00000363680:p.Glu337Lys					EDA_ENST00000524573.1_Missense_Mutation_p.E332K|EDA_ENST00000374553.2_Missense_Mutation_p.E335K	p.E337K	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			8	1251	+			337					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.1009G>A	CCDS14394.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.456579	0.96223	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.94330	-3.4;-3.4;-3.4	5.42	5.42	0.78866	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.70716	0.97;0.964;0.97	D	0.96158	0.9113	10	0.87932	D	0	-15.524	17.1546	0.86787	0.0:0.0:1.0:0.0	.	332;337;335	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	K	337;335;332	ENSP00000363680:E337K;ENSP00000363681:E335K;ENSP00000432585:E332K	ENSP00000363680:E337K	E	+	1	0	EDA	69172017	1.000000	0.71417	0.954000	0.39281	0.977000	0.68977	9.125000	0.94402	2.261000	0.74972	0.529000	0.55759	GAG		0.552	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		5	51	0	0	0	1	0	5	51				
PCDHB14	56122	broad.mit.edu	37	5	140604569	140604569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140604569C>A	ENST00000239449.4	+	1	1492	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCGGCACCTGCCCCTCGC	0.652																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1492-1494)Ctg>Atg									94.0	102.0	99.0					5																	140604569		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604569C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1492C>A	5.37:g.140604569C>A	ENSP00000239449:p.Leu498Met					PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M	p.L498M	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1492	+			498			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1492C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	6.192	0.403646	0.11754	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.03607	3.87;3.87	4.15	3.27	0.37495	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06050	0.0157	L	0.49126	1.545	0.09310	N	1	P	0.45078	0.85	P	0.46585	0.521	T	0.31943	-0.9925	9	0.48119	T	0.1	.	5.965	0.19320	0.0:0.6726:0.2174:0.1099	.	498	Q9Y5E9	PCDBE_HUMAN	M	345;498	ENSP00000444518:L345M;ENSP00000239449:L498M	ENSP00000239449:L498M	L	+	1	2	PCDHB14	140584753	0.000000	0.05858	0.021000	0.16686	0.126000	0.20510	0.423000	0.21313	0.882000	0.36016	0.556000	0.70494	CTG		0.652	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		12	188	1	0	1.5842e-08	1	1.73806e-08	12	188				
PLEKHG2	64857	broad.mit.edu	37	19	39911453	39911453	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:39911453C>G	ENST00000409794.3	+	13	2210	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	454					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCTCGACCTCGAGATGCTAG	0.582																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1360-1362)Cga>Gga		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							70.0	77.0	75.0					19																	39911453		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39911453C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1360C>G	19.37:g.39911453C>G	ENSP00000386733:p.Arg454Gly					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R454G	p.R454G			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		13	1685	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		454					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1360C>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779484	0.49891	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	T;T;T;T;T	0.71698	-0.3;-0.22;-0.59;-0.43;-0.59	4.65	4.65	0.58169	.	0.302778	0.21315	N	0.076579	T	0.56514	0.1990	L	0.36672	1.1	0.32769	N	0.504078	B;P;B;B	0.39551	0.043;0.678;0.011;0.001	B;B;B;B	0.34180	0.034;0.177;0.014;0.004	T	0.63910	-0.6530	10	0.19590	T	0.45	.	12.9133	0.58192	0.0:1.0:0.0:0.0	.	454;454;395;454	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	G	454;454;454;395;454	ENSP00000386733:R454G;ENSP00000392906:R454G;ENSP00000367812:R454G;ENSP00000408857:R395G;ENSP00000386492:R454G	ENSP00000367812:R454G	R	+	1	2	PLEKHG2	44603293	0.055000	0.20627	1.000000	0.80357	0.993000	0.82548	2.134000	0.42102	2.415000	0.81967	0.655000	0.94253	CGA		0.582	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		15	102	0	0	0	1	0	15	102				
MAGEA8	4107	broad.mit.edu	37	X	149013598	149013598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:149013598C>T	ENST00000542674.1	+	3	1073	c.552C>T	c.(550-552)tgC>tgT	p.C184C	MAGEA8_ENST00000286482.1_Silent_p.C184C|MAGEA8_ENST00000535454.1_Silent_p.C184C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	184	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCACCTGCCTGGGCCTCT	0.552																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(550-552)tgC>tgT		melanoma antigen family A, 8							71.0	63.0	66.0					X																	149013598		2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013598C>T		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.552C>T	X.37:g.149013598C>T						MAGEA8_ENST00000542674.1_Silent_p.C184C|MAGEA8_ENST00000286482.1_Silent_p.C184C	p.C184C	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1101	+	Acute lymphoblastic leukemia(192;6.56e-05)		184			MAGE.		Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.552C>T	CCDS14692.1																																																																																				0.552	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		7	93	0	0	0	1	0	7	93				
FAM166A	401565	broad.mit.edu	37	9	140138197	140138197	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:140138197C>G	ENST00000344774.4	-	7	963	c.909G>C	c.(907-909)cgG>cgC	p.R303R		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	303						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGTAGGCCCTCCGGGTGCTGT	0.562																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(907-909)cgG>cgC		family with sequence similarity 166, member A							263.0	228.0	240.0					9																	140138197		2203	4300	6503	SO:0001819	synonymous_variant	401565							g.chr9:140138197C>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.909G>C	9.37:g.140138197C>G							p.R303R	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			7	963	-			303					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.909G>C	CCDS35186.1																																																																																				0.562	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		10	186	0	0	0	1	0	10	186				
DIO2	1734	broad.mit.edu	37	14	80677621	80677621	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:80677621C>G	ENST00000557010.1	-	3	580	c.195G>C	c.(193-195)aaG>aaC	p.K65N	DIO2_ENST00000555750.1_Missense_Mutation_p.K65N|DIO2_ENST00000422005.3_Missense_Mutation_p.K65N|DIO2_ENST00000438257.4_Missense_Mutation_p.K65N|DIO2_ENST00000557125.1_Intron|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	65					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAGGAAGCTCTTCCAGACGC	0.612																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(193-195)aaG>aaC		deiodinase, iodothyronine, type II							47.0	48.0	48.0					14																	80677621		2075	4210	6285	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677621C>G	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.195G>C	14.37:g.80677621C>G	ENSP00000451419:p.Lys65Asn					DIO2_ENST00000422005.3_Missense_Mutation_p.K65N|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.K65N|DIO2_ENST00000555750.1_Missense_Mutation_p.K65N	p.K65N	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	580	-			65					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.195G>C	CCDS45146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.07|10.07	1.248818|1.248818	0.22880|0.22880	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000556811|ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838	.|T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36	5.7|5.7	1.28|1.28	0.21552|0.21552	.|.	.|0.201276	.|0.29653	.|N	.|0.011544	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.00170|0.00170	-1.935|-1.935	0.26384|0.26384	N|N	0.976688|0.976688	.|B;B;B;B	.|0.15719	.|0.0;0.0;0.001;0.014	.|B;B;B;B	.|0.16289	.|0.001;0.002;0.003;0.015	T|T	0.43228|0.43228	-0.9404|-0.9404	5|10	.|0.02654	.|T	.|1	.|.	7.7708|7.7708	0.29008|0.29008	0.0:0.3018:0.5179:0.1803|0.0:0.3018:0.5179:0.1803	.|.	.|65;65;65;65	.|Q92813-2;Q92813;G3V315;A8K845	.|.;IOD2_HUMAN;.;.	Q|N	13|65	.|ENSP00000405854:K65N;ENSP00000451419:K65N;ENSP00000411438:K65N;ENSP00000450980:K65N	.|ENSP00000373490:K65N	E|K	-|-	1|3	0|2	DIO2|DIO2	79747374|79747374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.810000|0.810000	0.27183|0.27183	0.728000|0.728000	0.32382|0.32382	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.612	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			3	31	0	0	0	1	0	3	31				
KRTAP5-1	387264	broad.mit.edu	37	11	1606150	1606150	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(328-330)ggC>ggT		keratin associated protein 5-1							28.0	40.0	36.0					11																	1606150		2036	4035	6071	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606150G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330C>T	11.37:g.1606150G>A						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G110G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	363	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	110			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.330C>T	CCDS31330.1																																																																																				0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		5	48	0	0	0	1	0	5	48				
CNGA4	1262	broad.mit.edu	37	11	6262839	6262839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6262839C>T	ENST00000379936.2	+	5	1211	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	366					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCTGCAGCCCCAGACCTA	0.562																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(1096-1098)Ccc>Tcc		cyclic nucleotide gated channel alpha 4							150.0	137.0	141.0					11																	6262839		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262839C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1096C>T	11.37:g.6262839C>T	ENSP00000369268:p.Pro366Ser					CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S	p.P366S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1211	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	366						Missense_Mutation	SNP	ENST00000379936.2	37	c.1096C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594256	0.86953	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	D;D	0.96685	-4.09;-4.09	5.19	5.19	0.71726	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.64080	1.96	0.58432	D	0.999998	P;P;P	0.52577	0.941;0.954;0.928	P;P;P	0.57548	0.74;0.823;0.729	D	0.95215	0.8329	10	0.19147	T	0.46	.	17.4408	0.87564	0.0:1.0:0.0:0.0	.	135;366;326	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	S	135;366	ENSP00000433399:P135S;ENSP00000369268:P366S	ENSP00000369268:P366S	P	+	1	0	CNGA4	6219415	0.576000	0.26700	1.000000	0.80357	0.984000	0.73092	4.292000	0.59031	2.691000	0.91804	0.655000	0.94253	CCC		0.562	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		12	163	0	0	0	1	0	12	163				
FAM90A1	55138	broad.mit.edu	37	12	8374654	8374654	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:8374654C>A	ENST00000538603.1	-	7	1717	c.1159G>T	c.(1159-1161)Gat>Tat	p.D387Y	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D387Y	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	387							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGCCCCATCATGGCTGGCC	0.652																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1159-1161)Gat>Tat		family with sequence similarity 90, member A1							15.0	19.0	18.0					12																	8374654		1986	3753	5739	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374654C>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1159G>T	12.37:g.8374654C>A	ENSP00000445418:p.Asp387Tyr					FAM90A1_ENST00000307435.6_Missense_Mutation_p.D387Y	p.D387Y	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1717	-			387					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.1159G>T	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	8.910	0.958397	0.18507	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.12672	2.66;2.66	1.02	0.0352	0.14187	.	.	.	.	.	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	D	0.68039	0.955	T	0.15122	-1.0448	9	0.54805	T	0.06	-0.3202	4.2891	0.10869	0.3925:0.6075:0.0:0.0	.	387	Q86YD7	F90A1_HUMAN	Y	387	ENSP00000307798:D387Y;ENSP00000445418:D387Y	ENSP00000307798:D387Y	D	-	1	0	FAM90A1	8265921	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.809000	0.04510	0.013000	0.14918	-1.141000	0.01876	GAT		0.652	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		4	40	1	0	0.150653	1	0.151149	4	40				
FAT3	120114	broad.mit.edu	37	11	92086794	92086794	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92086794T>C	ENST00000298047.6	+	1	1533	c.1516T>C	c.(1516-1518)Tac>Cac	p.Y506H	FAT3_ENST00000525166.1_Missense_Mutation_p.Y356H|FAT3_ENST00000409404.2_Missense_Mutation_p.Y506H|FAT3_ENST00000541502.1_Missense_Mutation_p.Y506H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAAAATGGGTACATCACCTA	0.393										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(1516-1518)Tac>Cac		FAT atypical cadherin 3							96.0	96.0	96.0					11																	92086794		1890	4125	6015	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086794T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1516T>C	11.37:g.92086794T>C	ENSP00000298047:p.Tyr506His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.Y356H|FAT3_ENST00000541502.1_Missense_Mutation_p.Y506H|FAT3_ENST00000409404.2_Missense_Mutation_p.Y506H	p.Y506H			Q8TDW7	FAT3_HUMAN			1	1533	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	506			Cadherin 5.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.1516T>C		.	.	.	.	.	.	.	.	.	.	T	16.79	3.221558	0.58560	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.84	5.84	0.93424	.	.	.	.	.	T	0.51126	0.1656	N	0.16016	0.355	0.46798	D	0.9992	D	0.89917	1.0	D	0.76575	0.988	T	0.51228	-0.8732	9	0.27785	T	0.31	.	15.3867	0.74706	0.0:0.0:0.0:1.0	.	506	Q8TDW7-3	.	H	506;506;506;356	ENSP00000298047:Y506H;ENSP00000387040:Y506H;ENSP00000443786:Y506H;ENSP00000432586:Y356H	ENSP00000298047:Y506H	Y	+	1	0	FAT3	91726442	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.975000	0.88055	2.226000	0.72624	0.482000	0.46254	TAC		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	110	0	0	0	1	0	7	110				
ITSN2	50618	broad.mit.edu	37	2	24443816	24443816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24443816C>T	ENST00000355123.4	-	30	4140	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1233	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCACCTCGACGACGAGC	0.552																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3697-3699)Gag>Aag		intersectin 2							182.0	157.0	166.0					2																	24443816		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24443816C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3697G>A	2.37:g.24443816C>T	ENSP00000347244:p.Glu1233Lys					ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K	p.E1233K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			30	4140	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1233			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3697G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806618	0.70682	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.64085	-0.08;-0.08;-0.08;1.47	3.78	3.78	0.43462	Dbl homology (DH) domain (5);	0.000000	0.37483	U	0.002078	T	0.74824	0.3767	L	0.58669	1.825	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.985;0.99;0.994	T	0.78311	-0.2253	10	0.87932	D	0	.	15.1053	0.72315	0.0:1.0:0.0:0.0	.	1233;1206;1233	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	K	1206;1233;1206;1233	ENSP00000354561:E1206K;ENSP00000347244:E1233K;ENSP00000370250:E1206K;ENSP00000384499:E1233K	ENSP00000347244:E1233K	E	-	1	0	ITSN2	24297320	1.000000	0.71417	0.944000	0.38274	0.871000	0.50021	7.228000	0.78079	2.413000	0.81919	0.561000	0.74099	GAG		0.552	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		10	144	0	0	0	1	0	10	144				
CDK5RAP2	55755	broad.mit.edu	37	9	123234044	123234044	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:123234044C>T	ENST00000349780.4	-	16	2019	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	614					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCCGAATTTCGCTGatctgc	0.463																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(1840-1842)Gaa>Aaa		CDK5 regulatory subunit associated protein 2							115.0	111.0	112.0					9																	123234044		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123234044C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1840G>A	9.37:g.123234044C>T	ENSP00000343818:p.Glu614Lys					CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K	p.E614K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			16	2019	-			614					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1840G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584196	0.86748	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000345313	T;T;T;T;T	0.18960	3.97;3.83;3.95;3.86;2.18	5.32	5.32	0.75619	.	0.480092	0.21202	N	0.078460	T	0.30386	0.0763	L	0.32530	0.975	0.32069	N	0.594671	D;D;D;D	0.89917	0.996;0.987;1.0;0.978	P;P;D;P	0.83275	0.739;0.739;0.996;0.552	T	0.01848	-1.1261	10	0.02654	T	1	.	14.8551	0.70329	0.0:1.0:0.0:0.0	.	415;614;614;614	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	K	614;614;614;614;40;616	ENSP00000354065:E614K;ENSP00000352258:E614K;ENSP00000343818:E614K;ENSP00000353317:E614K;ENSP00000400395:E40K	ENSP00000341695:E616K	E	-	1	0	CDK5RAP2	122273865	0.542000	0.26426	0.554000	0.28268	0.955000	0.61496	1.516000	0.35856	2.633000	0.89246	0.655000	0.94253	GAA		0.463	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		13	77	0	0	0	1	0	13	77				
EPB41L1	2036	broad.mit.edu	37	20	34809829	34809829	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:34809829T>A	ENST00000338074.2	+	20	2644	c.2483T>A	c.(2482-2484)aTc>aAc	p.I828N	EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	828	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAGCGAATCATCATTACT	0.542																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2482-2484)aTc>aAc		erythrocyte membrane protein band 4.1-like 1							139.0	111.0	121.0					20																	34809829		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809829T>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2483T>A	20.37:g.34809829T>A	ENSP00000337168:p.Ile828Asn					EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N	p.I828N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			20	2644	+	Breast(12;0.0239)		828			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2483T>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.803834|4.803834	0.90623|0.90623	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226|ENST00000451082;ENST00000432603	D;D;D;D;D;D;D|.	0.83992|.	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Band 4.1, C-terminal (1);|.	.|.	.|.	.|.	.|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;0.996;0.996|.	D;D;D;D;D|.	0.91635|.	0.999;0.994;0.999;0.994;0.944|.	T|T	0.75494|0.75494	-0.3298|-0.3298	9|5	0.87932|.	D|.	0|.	.|.	14.7383|14.7383	0.69434|0.69434	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	828;648;719;719;726|.	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	E41L1_HUMAN;.;.;.;.|.	N|T	726;719;719;726;648;828;827;189|256;66	ENSP00000202028:I726N;ENSP00000363061:I719N;ENSP00000399214:I726N;ENSP00000363057:I648N;ENSP00000337168:I828N;ENSP00000363052:I827N;ENSP00000388281:I189N|.	ENSP00000202028:I726N|.	I|S	+|+	2|1	0|0	EPB41L1|EPB41L1	34273243|34273243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.698000|7.698000	0.84413|0.84413	2.074000|2.074000	0.62210|0.62210	0.379000|0.379000	0.24179|0.24179	ATC|TCA		0.542	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		7	88	0	0	0	1	0	7	88				
ZG16B	124220	broad.mit.edu	37	16	2880712	2880712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2880712G>T	ENST00000382280.3	+	3	257	c.178G>T	c.(178-180)Gga>Tga	p.G60*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	60					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGCCCTGGAGGAGGCAAGTA	0.532																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(178-180)Gga>Tga		zymogen granule protein 16B							192.0	196.0	195.0					16																	2880712		1935	4137	6072	SO:0001587	stop_gained	124220					extracellular region	sugar binding	g.chr16:2880712G>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.178G>T	16.37:g.2880712G>T	ENSP00000371715:p.Gly60*					ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30*	p.G60*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN			3	257	+			60					A6NIY1|B2R4F6|Q6UW28	Nonsense_Mutation	SNP	ENST00000382280.3	37	c.178G>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	g	15.28	2.788029	0.49997	.	.	ENSG00000162078	ENST00000382280	.	.	.	3.26	2.29	0.28610	.	1.585430	0.04382	N	0.360955	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.2794	8.5356	0.33362	0.0:0.2375:0.7625:0.0	.	.	.	.	X	60	.	ENSP00000371715:G60X	G	+	1	0	ZG16B	2820713	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.435000	0.06931	0.935000	0.37341	0.556000	0.70494	GGA		0.532	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		15	211	1	0	8.28177e-16	1	9.18524e-16	15	211				
JAKMIP3	282973	broad.mit.edu	37	10	133950586	133950586	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:133950586G>A	ENST00000298622.4	+	6	1318	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	394						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AAGTCAGGATGAGAGAGAAGT	0.512																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1180-1182)Gag>Aag		Janus kinase and microtubule interacting protein 3							87.0	93.0	91.0					10																	133950586		1949	4142	6091	SO:0001583	missense	282973							g.chr10:133950586G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1180G>A	10.37:g.133950586G>A	ENSP00000298622:p.Glu394Lys						p.E394K	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	6	1318	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1180G>A	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052131	0.75960	.	.	ENSG00000188385	ENST00000298622	T	0.28069	1.63	4.72	4.72	0.59763	.	0.058953	0.64402	D	0.000004	T	0.53433	0.1796	M	0.71206	2.165	0.58432	D	0.999999	D	0.69078	0.997	D	0.64506	0.926	T	0.54892	-0.8225	10	0.41790	T	0.15	-21.877	17.6592	0.88187	0.0:0.0:1.0:0.0	.	394	Q5VZ66	JKIP3_HUMAN	K	394	ENSP00000298622:E394K	ENSP00000298622:E394K	E	+	1	0	JAKMIP3	133800576	1.000000	0.71417	0.185000	0.23176	0.698000	0.40448	9.206000	0.95056	2.140000	0.66376	0.586000	0.80456	GAG		0.512	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		4	48	0	0	0	1	0	4	48				
NR2E1	7101	broad.mit.edu	37	6	108492787	108492787	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:108492787G>T	ENST00000368986.4	+	2	859	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F	NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	51					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TAGGACCTATGTCTGCAAATC	0.577																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(151-153)Gtc>Ttc		nuclear receptor subfamily 2, group E, member 1							107.0	118.0	114.0					6																	108492787		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492787G>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.151G>T	6.37:g.108492787G>T	ENSP00000357982:p.Val51Phe					NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F	p.V51F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	859	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	51					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.151G>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589881	0.86851	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97303	-4.33;-4.33	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.173456	0.50627	D	0.000106	D	0.97670	0.9236	M	0.70787	2.145	0.80722	D	1	P	0.52170	0.951	D	0.64506	0.926	D	0.96615	0.9455	10	0.24483	T	0.36	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	51	Q9Y466	NR2E1_HUMAN	F	51;88	ENSP00000357982:V51F;ENSP00000357979:V88F	ENSP00000357979:V88F	V	+	1	0	NR2E1	108599480	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.321000	0.79088	2.542000	0.85734	0.561000	0.74099	GTC		0.577	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			14	145	1	0	0.000219431	1	0.00023118	14	145				
DIAPH1	1729	broad.mit.edu	37	5	140962827	140962827	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140962827G>A	ENST00000398557.4	-	6	706	c.566C>T	c.(565-567)gCc>gTc	p.A189V	DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.A189V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAAGGAGGCCAAGCCTTC	0.413																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(565-567)gCc>gTc		diaphanous-related formin 1							168.0	161.0	163.0					5																	140962827		1935	4150	6085	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140962827G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.566C>T	5.37:g.140962827G>A	ENSP00000381565:p.Ala189Val					DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V	p.A189V			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	706	-			189			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.566C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127748	0.77549	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.92	5.92	0.95590	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	D	0.85305	0.5666	L	0.36672	1.1	0.39836	D	0.973048	D;D	0.57899	0.976;0.981	B;B	0.43838	0.355;0.433	D	0.87098	0.2177	10	0.56958	D	0.05	.	14.5829	0.68305	0.0:0.0:0.8533:0.1467	.	180;189	E9PEZ2;O60610	.;DIAP1_HUMAN	V	189;135;180;180;180;189;189;180	ENSP00000373706:A189V;ENSP00000429282:A135V;ENSP00000381570:A180V;ENSP00000373709:A180V;ENSP00000381572:A180V;ENSP00000381565:A189V;ENSP00000253811:A189V;ENSP00000428268:A180V	ENSP00000253811:A189V	A	-	2	0	DIAPH1	140943011	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	3.878000	0.56130	2.810000	0.96702	0.650000	0.86243	GCC		0.413	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		9	184	0	0	0	1	0	9	184				
CARM1	10498	broad.mit.edu	37	19	11030598	11030598	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11030598C>T	ENST00000327064.4	+	10	1342	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	CARM1_ENST00000344150.4_Silent_p.V384V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	384	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CAGGGCTGGTCCACGGCCTGG	0.592																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(1150-1152)gtC>gtT		coactivator-associated arginine methyltransferase 1							83.0	76.0	79.0					19																	11030598		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11030598C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1152C>T	19.37:g.11030598C>T						CARM1_ENST00000344150.4_Silent_p.V384V	p.V384V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			10	1342	+			384					A6NN38	Silent	SNP	ENST00000327064.4	37	c.1152C>T	CCDS12250.1																																																																																				0.592	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		4	43	0	0	0	1	0	4	43				
MAGEC2	51438	broad.mit.edu	37	X	141291342	141291342	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:141291342C>A	ENST00000247452.3	-	3	779	c.432G>T	c.(430-432)aaG>aaT	p.K144N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	144	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCGGCCACCTTTTCATCTA	0.493										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(430-432)aaG>aaT		melanoma antigen family C, 2							118.0	116.0	116.0					X																	141291342		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291342C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.432G>T	X.37:g.141291342C>A	ENSP00000354660:p.Lys144Asn	HNSCC(46;0.14)					p.K144N	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	779	-	Acute lymphoblastic leukemia(192;6.56e-05)		144			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.432G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	9.797	1.179383	0.21787	.	.	ENSG00000046774	ENST00000247452	T	0.03951	3.75	1.13	0.212	0.15240	.	0.132668	0.48286	U	0.000186	T	0.08537	0.0212	M	0.84948	2.725	0.09310	N	1	P	0.52577	0.954	P	0.44946	0.465	T	0.18429	-1.0337	10	0.87932	D	0	.	3.2946	0.06961	0.0:0.69:0.0:0.31	.	144	Q9UBF1	MAGC2_HUMAN	N	144	ENSP00000354660:K144N	ENSP00000354660:K144N	K	-	3	2	MAGEC2	141119008	0.002000	0.14202	0.017000	0.16124	0.005000	0.04900	-0.605000	0.05661	0.014000	0.14944	-0.393000	0.06486	AAG		0.493	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		9	183	1	0	1.12685e-05	1	1.21017e-05	9	183				
AP4E1	23431	broad.mit.edu	37	15	51221216	51221216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:51221216C>T	ENST00000261842.5	+	6	659	c.553C>T	c.(553-555)Cga>Tga	p.R185*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	185					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGAGATTGTACGAAGAAAAGC	0.318																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(553-555)Cga>Tga		adaptor-related protein complex 4, epsilon 1 subunit							84.0	80.0	81.0					15																	51221216		2196	4294	6490	SO:0001587	stop_gained	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51221216C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.553C>T	15.37:g.51221216C>T	ENSP00000261842:p.Arg185*					AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110*	p.R185*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	6	659	+			185					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	c.553C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389158	0.95988	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.28	3.31	0.37934	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8107	12.2728	0.54716	0.447:0.553:0.0:0.0	.	.	.	.	X	185	.	ENSP00000261842:R185X	R	+	1	2	AP4E1	49008508	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.818000	0.27295	0.545000	0.28902	0.591000	0.81541	CGA		0.318	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			7	44	0	0	0	1	0	7	44				
EIF4B	1975	broad.mit.edu	37	12	53421849	53421849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:53421849C>T	ENST00000262056.9	+	8	1182	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	EIF4B_ENST00000416762.3_Missense_Mutation_p.R247C|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.R286C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTGGGTATCGCAGGGATGA	0.498																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(856-858)Cgc>Tgc		eukaryotic translation initiation factor 4B							79.0	84.0	82.0					12																	53421849		1902	4129	6031	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421849C>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.856C>T	12.37:g.53421849C>T	ENSP00000262056:p.Arg286Cys					EIF4B_ENST00000416762.3_Missense_Mutation_p.R247C|EIF4B_ENST00000420463.3_Missense_Mutation_p.R286C|RP11-983P16.4_ENST00000552905.1_RNA	p.R286C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1182	+			286			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.856C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425378	0.62733	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.55234	0.54;0.53;0.58;0.64	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.985;0.985;0.985	T	0.76179	-0.3054	10	0.66056	D	0.02	.	16.6135	0.84900	0.0:1.0:0.0:0.0	.	247;286;262;286	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	286;286;262;247;241;240	ENSP00000262056:R286C;ENSP00000388806:R286C;ENSP00000449746:R241C;ENSP00000450324:R240C	ENSP00000262056:R286C	R	+	1	0	EIF4B	51708116	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.337000	0.52120	2.409000	0.81822	0.655000	0.94253	CGC		0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		8	81	0	0	0	1	0	8	81				
ANKIB1	54467	broad.mit.edu	37	7	92027054	92027054	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:92027054A>G	ENST00000265742.3	+	19	2789	c.2413A>G	c.(2413-2415)Agc>Ggc	p.S805G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	805							zinc ion binding (GO:0008270)	p.S805G(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGGCGGCAGCAGCAGCCG	0.458																																						ENST00000265742.3																			1	Substitution - Missense(1)	p.S805G(1)	endometrium(1)	cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2413-2415)Agc>Ggc		ankyrin repeat and IBR domain containing 1							136.0	147.0	144.0					7																	92027054		1931	4159	6090	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027054A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2413A>G	7.37:g.92027054A>G	ENSP00000265742:p.Ser805Gly						p.S805G	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		19	2789	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		805					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2413A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	3.203	-0.163395	0.06502	.	.	ENSG00000001629	ENST00000265742	T	0.10288	2.89	1.06	1.06	0.20224	.	0.954791	0.08674	N	0.910432	T	0.08088	0.0202	N	0.08118	0	0.27455	N	0.953319	P;B	0.46395	0.877;0.043	P;B	0.51866	0.682;0.003	T	0.32268	-0.9913	10	0.22109	T	0.4	.	4.1779	0.10360	1.0:0.0:0.0:0.0	.	157;805	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	G	805	ENSP00000265742:S805G	ENSP00000265742:S805G	S	+	1	0	ANKIB1	91864990	1.000000	0.71417	0.851000	0.33527	0.903000	0.53119	0.877000	0.28106	0.388000	0.25054	0.383000	0.25322	AGC		0.458	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			30	217	0	0	0	1	0	30	217				
AGO3	192669	broad.mit.edu	37	1	36520550	36520550	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:36520550A>G	ENST00000373191.4	+	18	2627	c.2278A>G	c.(2278-2280)Acc>Gcc	p.T760A	AGO3_ENST00000246314.6_Missense_Mutation_p.T526A|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	760	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TCTATAGGGTACCAGTCGTCC	0.408																																						ENST00000373191.4																			0											c.(2278-2280)Acc>Gcc		argonaute RISC catalytic component 3							179.0	146.0	157.0					1																	36520550		2203	4300	6503	SO:0001583	missense	192669							g.chr1:36520550A>G	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2278A>G	1.37:g.36520550A>G	ENSP00000362287:p.Thr760Ala					AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.T526A	p.T760A	NM_024852.3	NP_079128.2					18	2627	+								B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2278A>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028195	0.75390	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.50548	0.74;0.74	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	H	0.98701	4.305	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.89356	0.3664	10	0.87932	D	0	-21.7372	15.9698	0.80004	1.0:0.0:0.0:0.0	.	760	Q9H9G7	AGO3_HUMAN	A	760;526	ENSP00000362287:T760A;ENSP00000246314:T526A	ENSP00000246314:T526A	T	+	1	0	EIF2C3	36293137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.265000	0.95647	2.183000	0.69458	0.533000	0.62120	ACC		0.408	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		7	61	0	0	0	1	0	7	61				
ATXN7L2	127002	broad.mit.edu	37	1	110030321	110030321	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:110030321G>A	ENST00000369870.3	+	5	610	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	199										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGAGAACATCGAGATCATCCC	0.597																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(595-597)Gag>Aag		ataxin 7-like 2							65.0	68.0	67.0					1																	110030321		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110030321G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.595G>A	1.37:g.110030321G>A	ENSP00000358886:p.Glu199Lys						p.E199K	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	610	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	199						Missense_Mutation	SNP	ENST00000369870.3	37	c.595G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783845	0.16189	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.35973	1.28	5.82	4.91	0.64330	.	0.414552	0.23211	N	0.050662	T	0.05823	0.0152	N	0.08118	0	0.20074	N	0.999938	B	0.10296	0.003	B	0.04013	0.001	T	0.32107	-0.9919	10	0.15499	T	0.54	-13.9524	7.7838	0.29080	0.0818:0.0:0.7577:0.1605	.	199	Q5T6C5	AT7L2_HUMAN	K	199	ENSP00000358886:E199K	ENSP00000358886:E199K	E	+	1	0	ATXN7L2	109831844	0.585000	0.26774	0.651000	0.29564	0.934000	0.57294	2.797000	0.47877	1.469000	0.48083	0.655000	0.94253	GAG		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		6	98	0	0	0	1	0	6	98				
TLR10	81793	broad.mit.edu	37	4	38776845	38776845	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38776845C>T	ENST00000308973.4	-	4	972	c.367G>A	c.(367-369)Gat>Aat	p.D123N	TLR10_ENST00000508334.1_Missense_Mutation_p.D123N|TLR10_ENST00000506111.1_Missense_Mutation_p.D123N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.D123N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	123					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAAGAAAGATCTAAATACCTG	0.373																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(367-369)Gat>Aat		toll-like receptor 10							63.0	62.0	62.0					4																	38776845		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776845C>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.367G>A	4.37:g.38776845C>T	ENSP00000308925:p.Asp123Asn					TLR10_ENST00000361424.2_Missense_Mutation_p.D123N|TLR10_ENST00000508334.1_Missense_Mutation_p.D123N|TLR10_ENST00000506111.1_Missense_Mutation_p.D123N	p.D123N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	972	-			123					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.367G>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853942	0.71719	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.23	5.23	0.72850	.	0.000000	0.52532	D	0.000070	T	0.66499	0.2795	L	0.47190	1.495	0.48901	D	0.999728	D	0.65815	0.995	D	0.64237	0.923	T	0.69386	-0.5159	10	0.87932	D	0	.	18.8117	0.92059	0.0:1.0:0.0:0.0	.	123	Q9BXR5	TLR10_HUMAN	N	123	ENSP00000308925:D123N;ENSP00000421483:D123N;ENSP00000354459:D123N;ENSP00000424923:D123N	ENSP00000308925:D123N	D	-	1	0	TLR10	38453240	0.999000	0.42202	1.000000	0.80357	0.923000	0.55619	2.809000	0.47971	2.442000	0.82660	0.655000	0.94253	GAT		0.373	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			6	89	0	0	0	1	0	6	89				
RBM6	10180	broad.mit.edu	37	3	50006080	50006080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50006080G>A	ENST00000266022.4	+	3	1481	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D276N	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(826-828)Gat>Aat		RNA binding motif protein 6							78.0	82.0	81.0					3																	50006080		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50006080G>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1222G>A	3.37:g.50006080G>A	ENSP00000266022:p.Asp408Asn					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D408N|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron	p.D276N			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	1745	+			408					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.826G>A	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592558	0.66219	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.38887	1.11;1.14	5.84	5.84	0.93424	.	0.135982	0.46758	D	0.000262	T	0.53981	0.1830	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45056	-0.9287	9	.	.	.	-16.8092	18.3169	0.90224	0.0:0.0:1.0:0.0	.	408	P78332	RBM6_HUMAN	N	408;276	ENSP00000266022:D408N;ENSP00000396466:D276N	.	D	+	1	0	RBM6	49981084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.280000	0.72626	2.774000	0.95407	0.484000	0.47621	GAT		0.522	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		4	64	0	0	0	1	0	4	64				
WWP2	11060	broad.mit.edu	37	16	69874159	69874159	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:69874159G>A	ENST00000359154.2	+	5	572	c.471G>A	c.(469-471)ctG>ctA	p.L157L	WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000569174.1_Silent_p.L157L|WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	157					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTGCCCTGACAGATGGTG	0.602																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(469-471)ctG>ctA		WW domain containing E3 ubiquitin protein ligase 2							86.0	73.0	77.0					16																	69874159		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874159G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.471G>A	16.37:g.69874159G>A						WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.L157L	p.L157L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	572	+			157					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.471G>A	CCDS10885.1																																																																																				0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		10	84	0	0	0	1	0	10	84				
TAS2R46	259292	broad.mit.edu	37	12	11214111	11214111	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214111G>A	ENST00000533467.1	-	1	782	c.783C>T	c.(781-783)ttC>ttT	p.F261F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	261					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CGCAGAACATGAAGACAGGTT	0.408																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(781-783)ttC>ttT		taste receptor, type 2, member 46							194.0	203.0	200.0					12																	11214111		2198	4300	6498	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214111G>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.783C>T	12.37:g.11214111G>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.F261F	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	782	-			261					P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.783C>T	CCDS53748.1																																																																																				0.408	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		18	259	0	0	0	1	0	18	259				
GBX2	2637	broad.mit.edu	37	2	237074823	237074823	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:237074823C>G	ENST00000306318.4	-	2	1178	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	GBX2_ENST00000465889.1_5'UTR|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	261					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TTCTCTAGCTCCAGCAGCTGC	0.647																																						ENST00000306318.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(781-783)Gag>Cag		gastrulation brain homeobox 2							40.0	46.0	44.0					2																	237074823		2203	4300	6503	SO:0001583	missense	2637					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:237074823C>G	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.781G>C	2.37:g.237074823C>G	ENSP00000302251:p.Glu261Gln					GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	p.E261Q	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)	2	1178	-		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)	261					B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	c.781G>C	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824457	0.90955	.	.	ENSG00000168505	ENST00000306318	D	0.96619	-4.07	4.42	4.42	0.53409	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98461	1.0596	10	0.66056	D	0.02	-16.5605	17.0285	0.86454	0.0:1.0:0.0:0.0	.	261	P52951	GBX2_HUMAN	Q	261	ENSP00000302251:E261Q	ENSP00000302251:E261Q	E	-	1	0	GBX2	236739562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.696000	0.84270	2.013000	0.59113	0.561000	0.74099	GAG		0.647	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257078.3	NM_001485		4	68	0	0	0	1	0	4	68				
PRR21	643905	broad.mit.edu	37	2	240981426	240981426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:240981426G>C	ENST00000408934.1	-	1	973	c.974C>G	c.(973-975)tCt>tGt	p.S325C		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	325										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						CGTGGATGAAGAGGCATGGAC	0.597																																						ENST00000408934.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						c.(973-975)tCt>tGt		proline rich 21							181.0	159.0	167.0					2																	240981426		2203	4300	6503	SO:0001583	missense	643905							g.chr2:240981426G>C	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.974C>G	2.37:g.240981426G>C	ENSP00000386166:p.Ser325Cys						p.S325C	NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN			1	973	-			325						Missense_Mutation	SNP	ENST00000408934.1	37	c.974C>G	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	g	9.245	1.039247	0.19669	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.04119	3.7;3.7	1.14	1.14	0.20703	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.43621	-0.9380	9	0.37606	T	0.19	.	8.2028	0.31434	0.0:0.0:1.0:0.0	.	325	Q8WXC7	PRR21_HUMAN	C	325	ENSP00000386166:S325C;ENSP00000418240:S325C	ENSP00000386166:S325C	S	-	2	0	PRR21	240630099	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.107000	0.03316	0.950000	0.37743	0.502000	0.49764	TCT		0.597	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		23	129	0	0	0	1	0	23	129				
TRBV6-8	28599	broad.mit.edu	37	7	142124196	142124196	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:142124196G>A	ENST00000390376.2	-	0	281									T cell receptor beta variable 6-8																		ACACCAGCCTGAGTGGGAAAT	0.507																																						ENST00000390376.2																			0																				203.0	211.0	209.0					7																	142124196		1958	4139	6097			28599							g.chr7:142124196G>A	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124196G>A														0	281	-									RNA	SNP	ENST00000390376.2	37																																																																																						0.507	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		15	311	0	0	0	1	0	15	311				
SETD1A	9739	broad.mit.edu	37	16	30974857	30974857	+	Silent	SNP	G	G	A	rs141357385	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:30974857G>A	ENST00000262519.8	+	5	1307	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	207					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAAGGCTCGGGTGCAGCCA	0.572													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16669	0.0		0.0	False		,,,				2504	0.0					ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(619-621)tcG>tcA		SET domain containing 1A		G		12,4382	19.1+/-41.9	0,12,2185	69.0	72.0	71.0		621	-0.8	1.0	16	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	SETD1A	NM_014712.1		0,12,6485	AA,AG,GG		0.0,0.2731,0.0924		207/1708	30974857	12,12982	2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30974857G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.621G>A	16.37:g.30974857G>A							p.S207S	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			5	1307	+			207					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.621G>A	CCDS32435.1																																																																																				0.572	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	93	0	0	0	1	0	9	93				
RERE	473	broad.mit.edu	37	1	8674637	8674637	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:8674637C>T	ENST00000337907.3	-	5	1139	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	169	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCCCTCTCCCGGCTTCAGAA	0.507																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(505-507)Ggg>Agg		arginine-glutamic acid dipeptide (RE) repeats							77.0	88.0	85.0					1																	8674637		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8674637C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.505G>A	1.37:g.8674637C>T	ENSP00000338629:p.Gly169Arg					RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R	p.G169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	5	1139	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	169			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.505G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827611	0.50845	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.45276	0.9;0.9	5.33	5.33	0.75918	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.51873	0.1700	L	0.29908	0.895	0.44485	D	0.997422	D	0.89917	1.0	D	0.91635	0.999	T	0.47394	-0.9121	9	0.45353	T	0.12	-23.5294	14.3867	0.66949	0.0:1.0:0.0:0.0	.	169	Q9P2R6	RERE_HUMAN	R	169	ENSP00000338629:G169R;ENSP00000383700:G169R	ENSP00000338629:G169R	G	-	1	0	RERE	8597224	0.955000	0.32602	1.000000	0.80357	1.000000	0.99986	1.009000	0.29886	2.768000	0.95171	0.655000	0.94253	GGG		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			14	102	0	0	0	1	0	14	102				
MAST3	23031	broad.mit.edu	37	19	18242831	18242831	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:18242831C>T	ENST00000262811.6	+	14	1458	c.1458C>T	c.(1456-1458)atC>atT	p.I486I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	486	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACTATGGCATCGTGCACCGTG	0.642																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1456-1458)atC>atT		microtubule associated serine/threonine kinase 3							58.0	57.0	57.0					19																	18242831		2181	4290	6471	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18242831C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1458C>T	19.37:g.18242831C>T							p.I486I	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			14	1458	+			486			Protein kinase.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.1458C>T	CCDS46014.1																																																																																				0.642	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	40	0	0	0	1	0	4	40				
MTA1	9112	broad.mit.edu	37	14	105931110	105931110	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:105931110G>A	ENST00000331320.7	+	15	1658	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	MTA1_ENST00000406191.1_Missense_Mutation_p.A482T|MTA1_ENST00000435036.2_Missense_Mutation_p.A18T|MTA1_ENST00000405646.1_Missense_Mutation_p.A465T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	482					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GACGCGGATCGCCCGGCGCCT	0.677																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(1444-1446)Gcc>Acc		metastasis associated 1							32.0	27.0	29.0					14																	105931110		2198	4297	6495	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105931110G>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1444G>A	14.37:g.105931110G>A	ENSP00000333633:p.Ala482Thr					MTA1_ENST00000435036.2_Missense_Mutation_p.A18T|MTA1_ENST00000406191.1_Missense_Mutation_p.A482T|MTA1_ENST00000405646.1_Missense_Mutation_p.A465T	p.A482T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	15	1658	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	482					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.1444G>A	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142294	0.94560	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036	T;T;T;T;T	0.61742	0.98;0.99;0.96;1.0;0.08	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.64144	0.922;0.907	T	0.80453	-0.1376	10	0.87932	D	0	-29.364	16.5298	0.84355	0.0:0.0:1.0:0.0	.	274;482	Q59FW1;Q13330	.;MTA1_HUMAN	T	391;482;482;465;274;18	ENSP00000333633:A482T;ENSP00000385702:A482T;ENSP00000384180:A465T;ENSP00000394106:A274T;ENSP00000389425:A18T	ENSP00000333633:A482T	A	+	1	0	MTA1	105002155	1.000000	0.71417	0.994000	0.49952	0.680000	0.39746	9.488000	0.97947	2.254000	0.74563	0.462000	0.41574	GCC		0.677	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			4	25	0	0	0	1	0	4	25				
WDR7	23335	broad.mit.edu	37	18	54448880	54448880	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:54448880C>A	ENST00000254442.3	+	19	3394	c.3183C>A	c.(3181-3183)gtC>gtA	p.V1061V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V1028V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1061					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TAGACCACGTCATATCACGTA	0.453																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3181-3183)gtC>gtA		WD repeat domain 7							92.0	78.0	83.0					18																	54448880		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54448880C>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3183C>A	18.37:g.54448880C>A						WDR7_ENST00000357574.3_Silent_p.V1028V|WDR7_ENST00000589935.1_Intron	p.V1061V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	19	3394	+			1061					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3183C>A	CCDS11962.1																																																																																				0.453	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	51	1	0	0.150653	1	0.151149	4	51				
HRH1	3269	broad.mit.edu	37	3	11302128	11302128	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:11302128C>T	ENST00000397056.1	+	3	1596	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	HRH1_ENST00000438284.2_Missense_Mutation_p.P469S|HRH1_ENST00000431010.2_Missense_Mutation_p.P469S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	469					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTCATCTACCCCTTGTGCAA	0.458																																						ENST00000397056.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1405-1407)Ccc>Tcc		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						160.0	172.0	168.0					3																	11302128		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11302128C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1405C>T	3.37:g.11302128C>T	ENSP00000380247:p.Pro469Ser					HRH1_ENST00000431010.2_Missense_Mutation_p.P469S|HRH1_ENST00000438284.2_Missense_Mutation_p.P469S	p.P469S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	1596	+			469					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.1405C>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240659	0.79912	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.34275	1.37;1.37;1.37	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	N	0.21617	0.685	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.40403	-0.9565	10	0.41790	T	0.15	-21.0992	20.6634	0.99662	0.0:1.0:0.0:0.0	.	469	P35367	HRH1_HUMAN	S	469	ENSP00000406705:P469S;ENSP00000397028:P469S;ENSP00000380247:P469S	ENSP00000380247:P469S	P	+	1	0	HRH1	11277128	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	4.789000	0.62446	2.894000	0.99253	0.655000	0.94253	CCC		0.458	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			19	173	0	0	0	1	0	19	173				
TAF2	6873	broad.mit.edu	37	8	120772953	120772953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120772953G>A	ENST00000378164.2	-	20	2882	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	862					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCGTTCTTCTGAAGTACCCGT	0.393																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2584-2586)Cag>Tag		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							129.0	121.0	124.0					8																	120772953		2203	4300	6503	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120772953G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2584C>T	8.37:g.120772953G>A	ENSP00000367406:p.Gln862*					TAF2_ENST00000519355.1_5'UTR	p.Q862*	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		20	2882	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		862					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.2584C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	44	10.790522	0.99468	.	.	ENSG00000064313	ENST00000378164	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-30.1377	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	862	.	ENSP00000367406:Q862X	Q	-	1	0	TAF2	120842134	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.743000	0.98849	2.937000	0.99478	0.650000	0.86243	CAG		0.393	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		9	105	0	0	0	1	0	9	105				
GXYLT2	727936	broad.mit.edu	37	3	73004381	73004381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:73004381G>C	ENST00000389617.4	+	4	894	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	245					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CCCTGAGCACGAAATCCCCAA	0.493																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(733-735)Gaa>Caa		glucoside xylosyltransferase 2							59.0	60.0	59.0					3																	73004381		1911	4125	6036	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73004381G>C	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.733G>C	3.37:g.73004381G>C	ENSP00000374268:p.Glu245Gln						p.E245Q	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			4	894	+			245						Missense_Mutation	SNP	ENST00000389617.4	37	c.733G>C	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144460	0.77888	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.22539	1.95;1.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52026	-0.8630	10	0.32370	T	0.25	.	19.212	0.93760	0.0:0.0:1.0:0.0	.	245	A0PJZ3	GXLT2_HUMAN	Q	245;6	ENSP00000374268:E245Q;ENSP00000420426:E6Q	ENSP00000374268:E245Q	E	+	1	0	GXYLT2	73087071	1.000000	0.71417	0.997000	0.53966	0.489000	0.33432	9.430000	0.97488	2.778000	0.95560	0.655000	0.94253	GAA		0.493	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		5	37	0	0	0	1	0	5	37				
ENPP2	5168	broad.mit.edu	37	8	120569896	120569896	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:120569896G>C	ENST00000075322.6	-	25	2515	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L	ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000522167.1_Silent_p.L454L|ENPP2_ENST00000427067.2_Silent_p.L840L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	819					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATCTTCATGAGTTCTTCTA	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2518-2520)ctC>ctG		ectonucleotide pyrophosphatase/phosphodiesterase 2							203.0	183.0	189.0					8																	120569896		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569896G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2457C>G	8.37:g.120569896G>C						ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000075322.6_Silent_p.L819L|ENPP2_ENST00000522167.1_Silent_p.L454L	p.L840L			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2700	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		819			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2520C>G	CCDS34936.1																																																																																				0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			13	130	0	0	0	1	0	13	130				
FAM47A	158724	broad.mit.edu	37	X	34149420	34149420	+	Missense_Mutation	SNP	G	G	A	rs369143353		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:34149420G>A	ENST00000346193.3	-	1	1027	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	326										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGGGCGGAGACTGGAC	0.617																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(976-978)Cgc>Tgc		family with sequence similarity 47, member A		G	CYS/ARG	0,3794		0,0,1613,568	18.0	21.0	20.0		976	0.2	0.0	X		20	1,6708		0,1,2423,1861	no	missense	FAM47A	NM_203408.3	180	0,1,4036,2429	AA,AG,GG,G		0.0149,0.0,0.0095	benign	326/792	34149420	1,10502	2181	4285	6466	SO:0001583	missense	158724							g.chrX:34149420G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.976C>T	X.37:g.34149420G>A	ENSP00000345029:p.Arg326Cys						p.R326C	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1027	-			326					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.976C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	3.151	-0.174165	0.06421	0.0	1.49E-4	ENSG00000185448	ENST00000346193	T	0.21543	2.0	0.207	0.207	0.15214	.	.	.	.	.	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.19935	0.04	B	0.06405	0.002	T	0.25882	-1.0119	8	0.54805	T	0.06	.	.	.	.	.	326	Q5JRC9	FA47A_HUMAN	C	326	ENSP00000345029:R326C	ENSP00000345029:R326C	R	-	1	0	FAM47A	34059341	0.263000	0.24083	0.014000	0.15608	0.014000	0.08584	0.096000	0.15147	0.275000	0.22094	0.279000	0.19357	CGC		0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		7	46	0	0	0	1	0	7	46				
KIAA1614	57710	broad.mit.edu	37	1	180885980	180885980	+	Silent	SNP	C	C	T	rs374668814		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180885980C>T	ENST00000367588.4	+	2	796	c.741C>T	c.(739-741)ggC>ggT	p.G247G		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	247								p.G247G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TTCCAGATGGCGTGGTGACAG	0.587																																						ENST00000367588.4																			2	Substitution - coding silent(2)	p.G247G(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(739-741)ggC>ggT		KIAA1614		C		0,4142		0,0,2071	166.0	179.0	174.0		741	-1.6	0.0	1		174	1,8403		0,1,4201	no	coding-synonymous	KIAA1614	NM_020950.1		0,1,6272	TT,TC,CC		0.0119,0.0,0.0080		247/1191	180885980	1,12545	2071	4202	6273	SO:0001819	synonymous_variant	57710							g.chr1:180885980C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.741C>T	1.37:g.180885980C>T							p.G247G	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	796	+			247					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.741C>T	CCDS41442.1																																																																																				0.587	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		17	185	0	0	0	1	0	17	185				
MYH2	4620	broad.mit.edu	37	17	10430045	10430045	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:10430045T>C	ENST00000245503.5	-	30	4442	c.4058A>G	c.(4057-4059)tAt>tGt	p.Y1353C	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1353					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCCTCATACTGTTCCCG	0.582																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4057-4059)tAt>tGt		myosin, heavy chain 2, skeletal muscle, adult							137.0	126.0	130.0					17																	10430045		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430045T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4058A>G	17.37:g.10430045T>C	ENSP00000245503:p.Tyr1353Cys					MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C	p.Y1353C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4442	-			1353					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4058A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689928	0.68271	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78924	-1.22;-1.22	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.34959	U	0.003558	D	0.89497	0.6732	M	0.88512	2.96	0.46725	D	0.999179	D	0.76494	0.999	D	0.73380	0.98	D	0.91538	0.5247	10	0.87932	D	0	.	15.4969	0.75662	0.0:0.0:0.0:1.0	.	1353	Q9UKX2	MYH2_HUMAN	C	1353	ENSP00000245503:Y1353C;ENSP00000380367:Y1353C	ENSP00000245503:Y1353C	Y	-	2	0	MYH2	10370770	0.994000	0.37717	0.966000	0.40874	0.999000	0.98932	2.518000	0.45537	2.243000	0.73865	0.533000	0.62120	TAT		0.582	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		14	107	0	0	0	1	0	14	107				
MARCH6	10299	broad.mit.edu	37	5	10415712	10415712	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:10415712G>A	ENST00000274140.5	+	21	2211	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	MARCH6_ENST00000510792.1_Silent_p.T391T|MARCH6_ENST00000503788.1_Silent_p.T588T|MARCH6_ENST00000449913.2_Silent_p.T645T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	693					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGGCTGTGACGGTGATGGTGG	0.483																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2077-2079)acG>acA		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							246.0	215.0	225.0					5																	10415712		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10415712G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2079G>A	5.37:g.10415712G>A						MARCH6_ENST00000503788.1_Silent_p.T588T|MARCH6_ENST00000449913.2_Silent_p.T645T|MARCH6_ENST00000510792.1_Silent_p.T391T	p.T693T	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			21	2211	+			693					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.2079G>A	CCDS34135.1																																																																																				0.483	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		5	70	0	0	0	1	0	5	70				
PARP4	143	broad.mit.edu	37	13	25072325	25072325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:25072325G>A	ENST00000381989.3	-	6	625	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	174					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGCGAACACTGAAGCTCCACC	0.507																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(520-522)Cag>Tag		poly (ADP-ribose) polymerase family, member 4							132.0	102.0	112.0					13																	25072325		2203	4300	6503	SO:0001587	stop_gained	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25072325G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.520C>T	13.37:g.25072325G>A	ENSP00000371419:p.Gln174*						p.Q174*	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	6	625	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	174					O75903|Q14682|Q5QNZ9|Q9H1M6	Nonsense_Mutation	SNP	ENST00000381989.3	37	c.520C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938783	0.73557	.	.	ENSG00000102699	ENST00000381989	.	.	.	3.82	1.95	0.26073	.	0.584781	0.16375	N	0.217164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.1727	5.3503	0.16032	0.2899:0.0:0.7101:0.0	.	.	.	.	X	174	.	ENSP00000371419:Q174X	Q	-	1	0	PARP4	23970325	0.020000	0.18652	0.037000	0.18230	0.005000	0.04900	1.069000	0.30641	0.332000	0.23536	0.544000	0.68410	CAG		0.507	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		7	48	0	0	0	1	0	7	48				
KIAA0754	643314	broad.mit.edu	37	1	39876557	39876557	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:39876557A>G	ENST00000530275.1	+	1	407	c.212A>G	c.(211-213)cAa>cGa	p.Q71R	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	71	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGTGCAAGATTTTAAA	0.438											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(211-213)cAa>cGa		KIAA0754							68.0	69.0	68.0					1																	39876557		1865	4101	5966	SO:0001583	missense	643314							g.chr1:39876557A>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.212A>G	1.37:g.39876557A>G	ENSP00000431179:p.Gln71Arg		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	p.Q71R	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	407	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	71			13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.212A>G		.	.	.	.	.	.	.	.	.	.	A	14.09	2.430353	0.43122	.	.	ENSG00000255103	ENST00000530275	T	0.39056	1.1	4.78	2.39	0.29439	.	.	.	.	.	T	0.26268	0.0641	L	0.27053	0.805	0.18873	N	0.999982	B	0.29432	0.244	B	0.27715	0.082	T	0.25813	-1.0121	9	0.87932	D	0	.	3.1851	0.06598	0.6317:0.155:0.0809:0.1324	.	71	O94854	K0754_HUMAN	R	71	ENSP00000431179:Q71R	ENSP00000431179:Q71R	Q	+	2	0	RP4-562N20.1	39649144	1.000000	0.71417	0.993000	0.49108	0.882000	0.50991	2.017000	0.40981	0.622000	0.30249	0.454000	0.30748	CAA		0.438	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		8	83	0	0	0	1	0	8	83				
SLC5A9	200010	broad.mit.edu	37	1	48703350	48703350	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:48703350G>A	ENST00000438567.2	+	11	1344		c.e11-1		SLC5A9_ENST00000533824.1_Splice_Site|SLC5A9_ENST00000236495.5_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTCTGGCAGAGTGTTTGTG	0.567																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.e12-1		solute carrier family 5 (sodium/sugar cotransporter), member 9							176.0	139.0	151.0					1																	48703350		2203	4300	6503	SO:0001630	splice_region_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48703350G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1293-1G>A	1.37:g.48703350G>A						SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site		NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			12	1417	+								B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Splice_Site	SNP	ENST00000438567.2	37		CCDS30709.2	.	.	.	.	.	.	.	.	.	.	g	20.6	4.025961	0.75390	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5459	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A9	48475937	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	9.657000	0.98554	2.624000	0.88883	0.651000	0.88453	.		0.567	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	Intron	5	55	0	0	0	1	0	5	55				
TMPO	7112	broad.mit.edu	37	12	98926626	98926626	+	Intron	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:98926626G>A	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Silent_p.V197V|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACAAGAAAGTGAAGTCCACTA	0.408																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(589-591)gtG>gtA		thymopoietin							96.0	103.0	100.0					12																	98926626		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98926626G>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1010G>A	12.37:g.98926626G>A						TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	p.V197V	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	829	+			197			NAKAP95-binding N.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.591G>A	CCDS31879.1																																																																																				0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		8	107	0	0	0	1	0	8	107				
MAPKAPK3	7867	broad.mit.edu	37	3	50683648	50683648	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:50683648G>A	ENST00000446044.1	+	10	1378	c.782G>A	c.(781-783)gGc>gAc	p.G261D	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.G261D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		ATTCGCCTGGGCCAGTACGGC	0.592																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(781-783)gGc>gAc		mitogen-activated protein kinase-activated protein kinase 3							117.0	115.0	116.0					3																	50683648		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50683648G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.782G>A	3.37:g.50683648G>A	ENSP00000396467:p.Gly261Asp					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.G261D	p.G261D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	10	1378	+			261			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.782G>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	34	5.337826	0.95758	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	L	0.53780	1.695	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77672	-0.2500	10	0.87932	D	0	-28.51	18.7773	0.91916	0.0:0.0:1.0:0.0	.	261	Q16644	MAPK3_HUMAN	D	261	ENSP00000396467:G261D;ENSP00000410970:G261D;ENSP00000350639:G261D	ENSP00000350639:G261D	G	+	2	0	MAPKAPK3	50658652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.765000	0.95021	0.655000	0.94253	GGC		0.592	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		11	171	0	0	0	1	0	11	171				
AASDHPPT	60496	broad.mit.edu	37	11	105962080	105962080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:105962080G>A	ENST00000278618.4	+	4	791	c.569G>A	c.(568-570)gGa>gAa	p.G190E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	190					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATTGGTGTTGGACTAGGATTT	0.353																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(568-570)gGa>gAa		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							133.0	141.0	138.0					11																	105962080		2201	4299	6500	SO:0001583	missense	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105962080G>A	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.569G>A	11.37:g.105962080G>A	ENSP00000278618:p.Gly190Glu					RP11-677I18.3_ENST00000532422.1_RNA	p.G190E	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	4	791	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	190					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	c.569G>A	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938653	0.92526	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	5.77	0.91146	4&apos (3);-phosphopantetheinyl transferase (3);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92462	0.5978	9	0.87932	D	0	.	19.981	0.97324	0.0:0.0:1.0:0.0	.	190	Q9NRN7	ADPPT_HUMAN	E	125;125;190	.	ENSP00000278618:G190E	G	+	2	0	AASDHPPT	105467290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.498000	0.90492	2.729000	0.93468	0.585000	0.79938	GGA		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		14	114	0	0	0	1	0	14	114				
ADCY6	112	broad.mit.edu	37	12	49169205	49169205	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49169205C>T	ENST00000307885.4	-	10	2555	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	ADCY6_ENST00000357869.3_Missense_Mutation_p.E621K|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.E621K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	621					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTCATCCTCAGGGTTCAGG	0.567																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1861-1863)Gag>Aag		adenylate cyclase 6							75.0	67.0	69.0					12																	49169205		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169205C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1861G>A	12.37:g.49169205C>T	ENSP00000311405:p.Glu621Lys					ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.E621K|ADCY6_ENST00000550422.1_Missense_Mutation_p.E621K	p.E621K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			10	2555	-			621					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1861G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672237	0.96754	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.80033	-1.33;-1.33;-1.33	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.78314	0.915;0.991	D	0.90434	0.4426	10	0.72032	D	0.01	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	621;621	O43306-2;O43306	.;ADCY6_HUMAN	K	621	ENSP00000350536:E621K;ENSP00000446730:E621K;ENSP00000311405:E621K	ENSP00000311405:E621K	E	-	1	0	ADCY6	47455472	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.695000	0.84257	2.533000	0.85409	0.557000	0.71058	GAG		0.567	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		8	62	0	0	0	1	0	8	62				
CDH15	1013	broad.mit.edu	37	16	89254679	89254679	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:89254679C>T	ENST00000289746.2	+	7	1029	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGAGGGTGTTCTGTCCATTGT	0.637																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(964-966)Ctg>Ttg		cadherin 15, type 1, M-cadherin (myotubule)							52.0	43.0	46.0					16																	89254679		2197	4300	6497	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89254679C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.964C>T	16.37:g.89254679C>T							p.L322L	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	7	1029	+			322			Cadherin 3.			Silent	SNP	ENST00000289746.2	37	c.964C>T	CCDS10976.1																																																																																				0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		3	27	0	0	0	1	0	3	27				
BRWD3	254065	broad.mit.edu	37	X	80049247	80049247	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:80049247G>C	ENST00000373275.4	-	5	421	c.205C>G	c.(205-207)Cca>Gca	p.P69A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	69					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGTAGTCTGGAGGAATGTGT	0.348																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(205-207)Cca>Gca		bromodomain and WD repeat domain containing 3							54.0	51.0	52.0					X																	80049247		2203	4300	6503	SO:0001583	missense	254065							g.chrX:80049247G>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.205C>G	X.37:g.80049247G>C	ENSP00000362372:p.Pro69Ala						p.P69A	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			5	421	-			69					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.205C>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551237	0.27739	.	.	ENSG00000165288	ENST00000373275	T	0.21031	2.03	4.7	4.7	0.59300	.	0.068909	0.64402	D	0.000012	T	0.14313	0.0346	N	0.25789	0.76	0.34935	D	0.749762	B	0.20052	0.041	B	0.22880	0.042	T	0.17561	-1.0365	9	.	.	.	-13.4903	10.6387	0.45579	0.0897:0.0:0.9103:0.0	.	69	Q6RI45	BRWD3_HUMAN	A	69	ENSP00000362372:P69A	.	P	-	1	0	BRWD3	79935903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.568000	0.45965	2.188000	0.69820	0.594000	0.82650	CCA		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	46	0	0	0	1	0	5	46				
AADACL3	126767	broad.mit.edu	37	1	12785336	12785336	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:12785336C>A	ENST00000359318.5	+	4	631	c.426C>A	c.(424-426)gcC>gcA	p.A142A	AADACL3_ENST00000332530.3_Silent_p.A72A	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	142							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAATAGCCGCAGTGGTTT	0.567																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(214-216)gcC>gcA		arylacetamide deacetylase-like 3							94.0	97.0	96.0					1																	12785336		1934	4140	6074	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785336C>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.426C>A	1.37:g.12785336C>A						AADACL3_ENST00000359318.5_Silent_p.A142A	p.A72A	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	442	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	142					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.216C>A	CCDS41253.1																																																																																				0.567	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		12	134	1	0	5.16669e-11	1	5.69924e-11	12	134				
PPFIA4	8497	broad.mit.edu	37	1	203025986	203025986	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:203025986G>A	ENST00000447715.2	+	24	2690	c.2249G>A	c.(2248-2250)cGc>cAc	p.R750H	PPFIA4_ENST00000367240.2_Missense_Mutation_p.R751H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	750					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						GGCGCCAAGCGCAAGGGCATC	0.622																																						ENST00000367240.2																			0				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						c.(2251-2253)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							41.0	46.0	44.0					1																	203025986		2172	4284	6456	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025986G>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.2249G>A	1.37:g.203025986G>A	ENSP00000402576:p.Arg750His					PPFIA4_ENST00000447715.2_Missense_Mutation_p.R750H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H	p.R751H			O75335	LIPA4_HUMAN			18	2779	+			266					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2252G>A		.	.	.	.	.	.	.	.	.	.	g	18.37	3.608367	0.66558	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.19	5.19	0.71726	.	0.000000	0.41823	D	0.000807	T	0.60715	0.2290	L	0.46157	1.445	0.45554	D	0.998505	D;B;D;D	0.65815	0.962;0.05;0.995;0.992	P;B;P;P	0.59288	0.635;0.013;0.855;0.635	T	0.62840	-0.6769	10	0.87932	D	0	-20.7125	12.2619	0.54655	0.0771:0.0:0.9229:0.0	.	479;750;266;266	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	H	751;750;266;479;266	ENSP00000356209:R751H;ENSP00000402576:R750H;ENSP00000295706:R266H;ENSP00000400379:R479H;ENSP00000272198:R266H	ENSP00000272198:R266H	R	+	2	0	PPFIA4	201292609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.095000	0.64529	2.697000	0.92050	0.651000	0.88453	CGC		0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		8	42	0	0	0	1	0	8	42				
TBCD	6904	broad.mit.edu	37	17	80763847	80763847	+	Silent	SNP	C	C	T	rs139258497	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:80763847C>T	ENST00000355528.4	+	10	1177	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.D349D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	349					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			aagatgacgacgaagatgacg	0.602													C|||	7	0.00139776	0.0038	0.0	5008	,	,		20955	0.002		0.0	False		,,,				2504	0.0					ENST00000355528.4																			0											c.(1045-1047)gaC>gaT		tubulin folding cofactor D		C		13,4189		0,13,2088	67.0	75.0	73.0		1047	-10.6	0.0	17	dbSNP_134	73	1,8441		0,1,4220	no	coding-synonymous	TBCD	NM_005993.4		0,14,6308	TT,TC,CC		0.0118,0.3094,0.1107		349/1193	80763847	14,12630	2101	4221	6322	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80763847C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1047C>T	17.37:g.80763847C>T						TBCD_ENST00000539345.2_Silent_p.D349D|TBCD_ENST00000397466.2_5'UTR	p.D349D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		10	1177	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	349					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1047C>T	CCDS45818.1																																																																																				0.602	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		4	43	0	0	0	1	0	4	43				
ZMIZ1	57178	broad.mit.edu	37	10	81051988	81051988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:81051988C>T	ENST00000334512.5	+	11	1404	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	278					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGACTTCACTCAGCCCgcggc	0.672																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(832-834)Cag>Tag		zinc finger, MIZ-type containing 1							46.0	54.0	51.0					10																	81051988		2203	4300	6503	SO:0001587	stop_gained	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81051988C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.832C>T	10.37:g.81051988C>T	ENSP00000334474:p.Gln278*					ZMIZ1_ENST00000478357.1_3'UTR	p.Q278*	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1404	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		278					Q5JSH9|Q7Z7E6	Nonsense_Mutation	SNP	ENST00000334512.5	37	c.832C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	43	10.400495	0.99398	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	.	.	.	5.16	5.16	0.70880	.	0.000000	0.39834	N	0.001260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.8302	18.6528	0.91437	0.0:1.0:0.0:0.0	.	.	.	.	X	278;208	.	ENSP00000334474:Q278X	Q	+	1	0	ZMIZ1	80721994	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.399000	0.79935	2.399000	0.81585	0.563000	0.77884	CAG		0.672	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		13	128	0	0	0	1	0	13	128				
FOLH1B	219595	broad.mit.edu	37	11	89431786	89431786	+	RNA	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:89431786C>G	ENST00000532352.1	+	0	2068							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTAGAGACTCTGTATTGAAT	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							56.0	57.0	57.0					11																	89431786		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431786C>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431786C>G										Q9HBA9	FOH1B_HUMAN			0	2068	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		9	55	0	0	0	1	0	9	55				
TRIM10	10107	broad.mit.edu	37	6	30122127	30122127	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:30122127C>A	ENST00000449742.2	-	7	1140	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	TRIM10_ENST00000376704.3_Silent_p.L355L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGTGTGGGCCAGAACACAGG	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(1063-1065)ctG>ctT		tripartite motif containing 10							49.0	50.0	49.0					6																	30122127		1511	2708	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30122127C>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1065G>T	6.37:g.30122127C>A						TRIM10_ENST00000376704.3_Silent_p.L355L	p.L355L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1140	-			355			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1065G>T	CCDS34375.1																																																																																				0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			4	37	1	0	0.00116845	1	0.00120397	4	37				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	24	0	0	0	1	0	3	24				
MYRF	745	broad.mit.edu	37	11	61539102	61539102	+	Nonsense_Mutation	SNP	C	C	T	rs202068755		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:61539102C>T	ENST00000278836.5	+	6	967	c.871C>T	c.(871-873)Cga>Tga	p.R291*	MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R282*	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	291	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCACCCCACTCGAGCCCCATC	0.657																																						ENST00000278836.5																			0											c.(871-873)Cga>Tga		myelin regulatory factor							82.0	96.0	91.0					11																	61539102		2202	4299	6501	SO:0001587	stop_gained	745							g.chr11:61539102C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.871C>T	11.37:g.61539102C>T	ENSP00000278836:p.Arg291*					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R282*	p.R291*	NM_001127392.1	NP_001120864.1					6	967	+								O43582|Q9P1Q6	Nonsense_Mutation	SNP	ENST00000278836.5	37	c.871C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577698	0.86645	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	.	.	.	4.41	-1.54	0.08584	.	0.094539	0.41294	D	0.000907	.	.	.	.	.	.	0.49130	D	0.999757	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7692	14.6088	0.68501	0.641:0.359:0.0:0.0	.	.	.	.	X	291;282	.	ENSP00000265460:R282X	R	+	1	2	C11orf9	61295678	0.006000	0.16342	0.132000	0.22025	0.819000	0.46315	-0.097000	0.11042	0.001000	0.14605	0.457000	0.33378	CGA		0.657	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		11	126	0	0	0	1	0	11	126				
ORC5	5001	broad.mit.edu	37	7	103835694	103835694	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:103835694T>C	ENST00000297431.4	-	5	592	c.450A>G	c.(448-450)agA>agG	p.R150R	ORC5_ENST00000545943.1_Silent_p.R18R|ORC5_ENST00000447452.2_Silent_p.R150R|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	150					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGTCACATTTCTGTCAGCCT	0.348																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(52-54)agA>agG		origin recognition complex, subunit 5							86.0	85.0	85.0					7																	103835694		2203	4299	6502	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103835694T>C		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.450A>G	7.37:g.103835694T>C						ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000297431.4_Silent_p.R150R|ORC5_ENST00000447452.2_Silent_p.R150R	p.R18R			O43913	ORC5_HUMAN			6	679	-			150					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.54A>G	CCDS5734.1																																																																																				0.348	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		7	73	0	0	0	1	0	7	73				
TMEM260	54916	broad.mit.edu	37	14	57092099	57092099	+	Splice_Site	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:57092099G>C	ENST00000261556.6	+	12	1520		c.e12-1		TMEM260_ENST00000538838.1_Splice_Site|TMEM260_ENST00000536419.1_Splice_Site	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260							integral component of membrane (GO:0016021)											TTTTCTGGCAGATGATGACTT	0.378																																						ENST00000261556.6																			0											c.e12-1		transmembrane protein 260							106.0	105.0	106.0					14																	57092099		2203	4300	6503	SO:0001630	splice_region_variant	54916							g.chr14:57092099G>C	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1399-1G>C	14.37:g.57092099G>C						TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site		NM_017799.3	NP_060269.3					12	1520	+								A8KAN4|B3KPF5|Q86XE1	Splice_Site	SNP	ENST00000261556.6	37		CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024080	0.75390	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf101	56161852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.747000	0.91610	2.836000	0.97738	0.655000	0.94253	.		0.378	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	Intron	6	86	0	0	0	1	0	6	86				
CATSPER4	378807	broad.mit.edu	37	1	26520297	26520297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:26520297C>T	ENST00000456354.2	+	3	444	c.377C>T	c.(376-378)tCt>tTt	p.S126F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	126					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTGTTCTCTACCATAGAT	0.507																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(376-378)tCt>tTt		cation channel, sperm associated 4							200.0	170.0	180.0					1																	26520297		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26520297C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.377C>T	1.37:g.26520297C>T	ENSP00000390423:p.Ser126Phe						p.S126F	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	3	444	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	126					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.377C>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160027	0.57368	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97209	-4.29;-4.29	4.87	4.87	0.63330	.	0.000000	0.49305	D	0.000154	D	0.97501	0.9182	L	0.54323	1.7	0.37805	D	0.927827	D	0.89917	1.0	D	0.87578	0.998	D	0.97840	1.0268	10	0.34782	T	0.22	-10.1023	13.4843	0.61355	0.0:1.0:0.0:0.0	.	126	Q7RTX7	CTSR4_HUMAN	F	126	ENSP00000341006:S126F;ENSP00000390423:S126F	ENSP00000341006:S126F	S	+	2	0	CATSPER4	26392884	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.020000	0.57189	2.238000	0.73509	0.491000	0.48974	TCT		0.507	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		11	93	0	0	0	1	0	11	93				
PRX	57716	broad.mit.edu	37	19	40901949	40901949	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40901949C>A	ENST00000324001.7	-	7	2580	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	770	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCTGGTGCCTTCGGAAGAT	0.592																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2308-2310)aaG>aaT		periaxin							104.0	97.0	100.0					19																	40901949		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901949C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2310G>T	19.37:g.40901949C>A	ENSP00000326018:p.Lys770Asn					PRX_ENST00000291825.7_3'UTR	p.K770N	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2580	-			770			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2310G>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585329	0.28268	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01113	5.32	4.83	3.77	0.43336	.	0.270250	0.26075	N	0.026495	T	0.02610	0.0079	L	0.51422	1.61	0.22066	N	0.99938	D	0.58268	0.982	P	0.56042	0.79	T	0.47812	-0.9088	10	0.23302	T	0.38	-17.7004	8.927	0.35646	0.0:0.8229:0.0:0.1771	.	770	Q9BXM0	PRAX_HUMAN	N	770	ENSP00000326018:K770N	ENSP00000326018:K770N	K	-	3	2	PRX	45593789	0.001000	0.12720	0.039000	0.18376	0.128000	0.20619	0.046000	0.14035	0.995000	0.38917	0.655000	0.94253	AAG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		38	135	1	0	2.20474e-14	1	2.44081e-14	38	135				
CACNA1E	777	broad.mit.edu	37	1	181689432	181689432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:181689432C>G	ENST00000367573.2	+	14	1842	c.1842C>G	c.(1840-1842)atC>atG	p.I614M	CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	614					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCTCTTCATCGTTGTCTTTG	0.468																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1840-1842)atC>atG		calcium channel, voltage-dependent, R type, alpha 1E subunit							185.0	164.0	171.0					1																	181689432		1990	4156	6146	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689432C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1842C>G	1.37:g.181689432C>G	ENSP00000356545:p.Ile614Met					CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I614M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M	p.I614M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			14	2007	+			614					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1842C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199511	0.58126	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.15	-5.47	0.02600	.	0.046313	0.85682	D	0.000000	D	0.97328	0.9126	L	0.43554	1.36	0.40982	D	0.984789	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.94978	0.8123	10	0.62326	D	0.03	.	10.1782	0.42952	0.0978:0.2453:0.0:0.657	.	614;614	Q15878-2;Q15878-3	.;.	M	614;614;565;565;221;614;614	ENSP00000356542:I614M;ENSP00000434814:I614M;ENSP00000350183:I565M;ENSP00000351101:I565M;ENSP00000356539:I221M;ENSP00000353222:I614M;ENSP00000356545:I614M	ENSP00000350183:I565M	I	+	3	3	CACNA1E	179956055	0.000000	0.05858	0.905000	0.35620	0.955000	0.61496	-2.114000	0.01329	-1.034000	0.03295	-0.984000	0.02558	ATC		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	29	0	0	0	1	0	4	29				
PPP1R21	129285	broad.mit.edu	37	2	48718299	48718299	+	Missense_Mutation	SNP	C	C	T	rs374526653		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:48718299C>T	ENST00000294952.8	+	15	1746	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	PPP1R21_ENST00000449090.2_Missense_Mutation_p.S530F|PPP1R21_ENST00000281394.4_Missense_Mutation_p.S530F	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	530						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TATATGAAGTCTTTGAGAAAG	0.383																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1588-1590)tCt>tTt		protein phosphatase 1, regulatory subunit 21							79.0	79.0	79.0					2																	48718299		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48718299C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1589C>T	2.37:g.48718299C>T	ENSP00000294952:p.Ser530Phe					PPP1R21_ENST00000281394.4_Missense_Mutation_p.S530F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S530F	p.S530F	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			15	1746	+			530					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1589C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818928	0.50633	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.41	5.41	0.78517	.	0.486564	0.25250	N	0.032038	T	0.51363	0.1670	L	0.54323	1.7	0.37491	D	0.916386	B;B;B;B	0.33919	0.427;0.317;0.432;0.374	B;B;B;B	0.33799	0.17;0.17;0.141;0.073	T	0.59979	-0.7352	9	0.59425	D	0.04	-5.4198	9.5256	0.39162	0.0:0.7816:0.1437:0.0747	.	530;530;530;530	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	F	530	.	ENSP00000281394:S530F	S	+	2	0	KLRAQ1	48571803	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	2.587000	0.46128	2.712000	0.92718	0.650000	0.86243	TCT		0.383	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		6	63	0	0	0	1	0	6	63				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	58	1	0	0.00198382	1	0.00203383	7	58				
BCAN	63827	broad.mit.edu	37	1	156617836	156617836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617836C>T	ENST00000329117.5	+	5	1039	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	BCAN_ENST00000361588.5_Missense_Mutation_p.R235W|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	235	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCGGGGTCCGGAACTATGG	0.517																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(703-705)Cgg>Tgg		brevican							139.0	132.0	135.0					1																	156617836		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617836C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.703C>T	1.37:g.156617836C>T	ENSP00000331210:p.Arg235Trp					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R235W	p.R235W	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			5	1039	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		235			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.703C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610200	0.66558	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.10960	2.82;2.82;2.82	3.9	3.9	0.45041	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.52532	D	0.000075	T	0.28200	0.0696	M	0.90977	3.165	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11567	-1.0582	10	0.87932	D	0	-17.5131	8.9741	0.35924	0.3441:0.6559:0.0:0.0	.	235;235	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	W	176;235;133;235	ENSP00000331210:R235W;ENSP00000401709:R133W;ENSP00000354925:R235W	ENSP00000255029:R176W	R	+	1	2	BCAN	154884460	0.183000	0.23186	1.000000	0.80357	0.981000	0.71138	0.739000	0.26173	2.005000	0.58758	0.555000	0.69702	CGG		0.517	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	108	0	0	0	1	0	8	108				
ATAD5	79915	broad.mit.edu	37	17	29206468	29206468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:29206468G>A	ENST00000321990.4	+	18	4418	c.4040G>A	c.(4039-4041)gGc>gAc	p.G1347D		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1347					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGTTTGATGGCTGCTTTGAA	0.294																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4039-4041)gGc>gAc		ATPase family, AAA domain containing 5							133.0	129.0	130.0					17																	29206468		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29206468G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4040G>A	17.37:g.29206468G>A	ENSP00000313171:p.Gly1347Asp						p.G1347D	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			18	4418	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1347					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4040G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529088	0.85706	.	.	ENSG00000176208	ENST00000321990	T	0.15487	2.42	4.61	4.61	0.57282	ATPase, AAA+ type, core (1);	0.234209	0.43416	D	0.000574	T	0.39172	0.1068	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10706	-1.0618	10	0.40728	T	0.16	.	17.8551	0.88760	0.0:0.0:1.0:0.0	.	1347	Q96QE3	ATAD5_HUMAN	D	1347	ENSP00000313171:G1347D	ENSP00000313171:G1347D	G	+	2	0	ATAD5	26230594	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.269000	0.89878	2.267000	0.75376	0.573000	0.79308	GGC		0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		7	53	0	0	0	1	0	7	53				
XPR1	9213	broad.mit.edu	37	1	180775644	180775644	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:180775644G>C	ENST00000367590.4	+	6	830	c.632G>C	c.(631-633)aGa>aCa	p.R211T	XPR1_ENST00000367589.3_Missense_Mutation_p.R211T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	211					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATGGTGACAGACAAAAGGCT	0.373																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(631-633)aGa>aCa		xenotropic and polytropic retrovirus receptor 1							145.0	139.0	141.0					1																	180775644		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775644G>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.632G>C	1.37:g.180775644G>C	ENSP00000356562:p.Arg211Thr					XPR1_ENST00000367589.3_Missense_Mutation_p.R211T	p.R211T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			6	830	+			211					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.632G>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736545	0.89482	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.52295	0.67	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.82422	-0.0465	10	0.87932	D	0	-10.5649	18.2167	0.89887	0.0:0.0:1.0:0.0	.	211;211	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	T	211	ENSP00000356562:R211T	ENSP00000356561:R211T	R	+	2	0	XPR1	179042267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.851000	0.92205	2.417000	0.82017	0.484000	0.47621	AGA		0.373	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		7	91	0	0	0	1	0	7	91				
GCC2	9648	broad.mit.edu	37	2	109111839	109111839	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109111839G>C	ENST00000309863.6	+	20	5254	c.4540G>C	c.(4540-4542)Gag>Cag	p.E1514Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1514					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCCGGGAAGAGGGAGAAGG	0.483																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4540-4542)Gag>Cag		GRIP and coiled-coil domain containing 2							27.0	32.0	30.0					2																	109111839		1344	2277	3621	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109111839G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4540G>C	2.37:g.109111839G>C	ENSP00000307939:p.Glu1514Gln						p.E1514Q	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			20	5254	+			1514					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4540G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554636	0.65425	.	.	ENSG00000135968	ENST00000309863	T	0.37411	1.2	5.51	4.63	0.57726	.	0.051075	0.85682	D	0.000000	T	0.40067	0.1102	M	0.70595	2.14	0.51012	D	0.999904	B	0.33318	0.408	B	0.33254	0.16	T	0.27191	-1.0081	10	0.27082	T	0.32	.	16.7018	0.85351	0.0:0.1297:0.8703:0.0	.	1514	Q8IWJ2	GCC2_HUMAN	Q	1514	ENSP00000307939:E1514Q	ENSP00000307939:E1514Q	E	+	1	0	GCC2	108478271	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.451000	0.80668	1.453000	0.47775	0.555000	0.69702	GAG		0.483	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		4	39	0	0	0	1	0	4	39				
TUSC3	7991	broad.mit.edu	37	8	15480730	15480730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:15480730C>T	ENST00000503731.1	+	2	428	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000382020.4_Nonsense_Mutation_p.Q94*	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	94	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CACTGCTCTTCAGCCTCAGCG	0.323																																						ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(280-282)Cag>Tag		tumor suppressor candidate 3							82.0	81.0	82.0					8																	15480730		2203	4300	6503	SO:0001587	stop_gained	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15480730C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.280C>T	8.37:g.15480730C>T	ENSP00000424544:p.Gln94*					TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503731.1_Nonsense_Mutation_p.Q94*	p.Q94*	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	2	488	+			94					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Nonsense_Mutation	SNP	ENST00000503731.1	37	c.280C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	40	8.127683	0.98667	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-15.3803	18.9566	0.92661	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000221167:Q94X	Q	+	1	0	TUSC3	15525101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.804000	0.96469	0.650000	0.86243	CAG		0.323	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		5	85	0	0	0	1	0	5	85				
FAM110B	90362	broad.mit.edu	37	8	59059120	59059120	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:59059120G>A	ENST00000361488.3	+	5	1211	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	111						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGAGAGCGGCGTGCAGAGGGA	0.652																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(331-333)Gtg>Atg		family with sequence similarity 110, member B							36.0	36.0	36.0					8																	59059120		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059120G>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.331G>A	8.37:g.59059120G>A	ENSP00000355204:p.Val111Met					FAM110B_ENST00000520369.1_Intron	p.V111M	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1211	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	111					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.331G>A	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305600	0.40795	.	.	ENSG00000169122	ENST00000361488	T	0.46063	0.88	5.39	3.57	0.40892	.	0.396735	0.27971	N	0.017107	T	0.31420	0.0796	N	0.22421	0.69	0.36323	D	0.858409	D	0.54207	0.965	P	0.45406	0.479	T	0.29941	-0.9995	9	.	.	.	-17.0652	11.9501	0.52950	0.144:0.0:0.856:0.0	.	111	Q8TC76	F110B_HUMAN	M	111	ENSP00000355204:V111M	.	V	+	1	0	FAM110B	59221674	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	3.431000	0.52814	1.268000	0.44264	0.455000	0.32223	GTG		0.652	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		4	37	0	0	0	1	0	4	37				
KBTBD13	390594	broad.mit.edu	37	15	65370407	65370407	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:65370407C>T	ENST00000432196.2	+	1	1254	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	418					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CCATCGAGGGCGGCACCTGGC	0.652																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(1252-1254)ggC>ggT		kelch repeat and BTB (POZ) domain containing 13							9.0	10.0	9.0					15																	65370407		2024	4155	6179	SO:0001819	synonymous_variant	390594					cytoplasm		g.chr15:65370407C>T		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.1254C>T	15.37:g.65370407C>T							p.G418G	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	1254	+			418						Silent	SNP	ENST00000432196.2	37	c.1254C>T	CCDS45281.1																																																																																				0.652	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		5	14	0	0	0	1	0	5	14				
PAPD5	64282	broad.mit.edu	37	16	50261849	50261849	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:50261849C>G	ENST00000561678.1	+	10	1599	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E	PAPD5_ENST00000357464.3_Missense_Mutation_p.Q540E|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488																																						ENST00000357464.3																			1	Substitution - Nonsense(1)	p.Q619*(1)	kidney(1)	endometrium(1)|kidney(1)|lung(2)	4						c.(1618-1620)Cag>Gag		PAP associated domain containing 5							97.0	94.0	95.0					16																	50261849		1938	4148	6086	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50261849C>G	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1525C>G	16.37:g.50261849C>G	ENSP00000455837:p.Gln509Glu					PAPD5_ENST00000561678.1_Missense_Mutation_p.Q509E|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E|PAPD5_ENST00000573002.1_3'UTR	p.Q540E			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	1618	+		all_cancers(37;0.0452)	493					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1618C>G		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113436	0.77210	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.47869	0.83;0.86	6.17	6.17	0.99709	.	0.544685	0.21364	N	0.075753	T	0.40067	0.1102	N	0.22421	0.69	0.47153	D	0.999339	B;B	0.25007	0.084;0.116	B;B	0.24155	0.051;0.031	T	0.10683	-1.0619	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	619;493	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	619;540	ENSP00000396995:Q619E;ENSP00000350054:Q540E	ENSP00000350054:Q540E	Q	+	1	0	PAPD5	48819350	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	CAG		0.488	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		4	43	0	0	0	1	0	4	43				
SLC13A2	9058	broad.mit.edu	37	17	26820669	26820669	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:26820669G>T	ENST00000314669.5	+	7	1379	c.959G>T	c.(958-960)aGg>aTg	p.R320M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M|SLC13A2_ENST00000444914.3_Missense_Mutation_p.R369M	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	320					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACCGAGCACAGGCTGCTGGGC	0.587																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1105-1107)aGg>aTg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						61.0	55.0	57.0					17																	26820669		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26820669G>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.959G>T	17.37:g.26820669G>T	ENSP00000316202:p.Arg320Met					SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R320M	p.R369M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1526	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		320					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1106G>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421295	0.62622	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03152	4.03;4.03;4.03;4.03	4.46	-7.37	0.01412	.	0.501262	0.24254	N	0.040153	T	0.10252	0.0251	M	0.77103	2.36	0.22156	N	0.999324	P;P;P;P;P	0.52170	0.951;0.627;0.844;0.708;0.844	P;P;P;P;P	0.56788	0.792;0.738;0.657;0.784;0.806	T	0.00225	-1.1901	10	0.72032	D	0.01	-8.1914	13.603	0.62031	0.4813:0.0:0.5187:0.0	.	277;369;276;249;320	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	M	320;369;277;276;249	ENSP00000316202:R320M;ENSP00000392411:R369M;ENSP00000441935:R277M;ENSP00000440802:R249M	ENSP00000316202:R320M	R	+	2	0	SLC13A2	23844796	0.969000	0.33509	0.120000	0.21714	0.934000	0.57294	0.760000	0.26475	-1.543000	0.01723	-0.403000	0.06358	AGG		0.587	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		6	47	1	0	0.248553	1	0.248961	6	47				
FAM161B	145483	broad.mit.edu	37	14	74411195	74411195	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411195C>T	ENST00000534936.1	-	3	873	c.768G>A	c.(766-768)ttG>ttA	p.L256L	FAM161B_ENST00000286544.3_Silent_p.L319L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	256										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGAAGGGCTTCAAAGAAGAGA	0.562																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(955-957)ttG>ttA		family with sequence similarity 161, member B							64.0	63.0	63.0					14																	74411195		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74411195C>T	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.768G>A	14.37:g.74411195C>T						FAM161B_ENST00000534936.1_Silent_p.L256L	p.L319L	NM_152445.2	NP_689658.2					3	1155	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.957G>A																																																																																					0.562	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		6	100	0	0	0	1	0	6	100				
ABCA13	154664	broad.mit.edu	37	7	48428758	48428758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:48428758C>G	ENST00000435803.1	+	37	11619	c.11595C>G	c.(11593-11595)ttC>ttG	p.F3865L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3865	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTGACCTTCTACAGAGACC	0.537																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11593-11595)ttC>ttG		ATP-binding cassette, sub-family A (ABC1), member 13							59.0	61.0	60.0					7																	48428758		1911	4138	6049	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428758C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11595C>G	7.37:g.48428758C>G	ENSP00000411096:p.Phe3865Leu						p.F3865L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11619	+			3865			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11595C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373751	0.61624	.	.	ENSG00000179869	ENST00000435803	D	0.92149	-2.98	4.59	0.639	0.17747	ABC transporter-like (1);	0.000000	0.45126	D	0.000390	D	0.87861	0.6284	N	0.05199	-0.095	0.80722	D	1	D;D	0.60160	0.978;0.987	P;D	0.67103	0.903;0.949	D	0.84386	0.0552	10	0.46703	T	0.11	.	8.0645	0.30652	0.0:0.6283:0.0:0.3717	.	1567;3865	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3865	ENSP00000411096:F3865L	ENSP00000411096:F3865L	F	+	3	2	ABCA13	48399304	1.000000	0.71417	0.954000	0.39281	0.724000	0.41520	2.279000	0.43435	0.137000	0.18759	-0.140000	0.14226	TTC		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	58	0	0	0	1	0	9	58				
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:155239824A>G	ENST00000244174.5	+	9	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_ENST00000424344.3_Missense_Mutation_p.N418S|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	439	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													a|||	711	0.141973	0.0825	0.085	5008	,	,		13060	0.0883		0.1491	False		,,,				2504	0.3108					ENST00000424344.3																			1	Substitution - Missense(1)	p.N439S(1)	kidney(1)	NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1252-1254)aAc>aGc		interleukin 9 receptor							7.0	14.0	12.0					X																	155239824		2081	4221	6302	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239824A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1316A>G	X.37:g.155239824A>G	ENSP00000244174:p.Asn439Ser					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.N439S	p.N418S			Q01113	IL9R_HUMAN			10	1620	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		439					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1253A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	1.685	-0.505533	0.04261	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10192	2.9;2.9	.	.	.	.	3.894160	0.00911	N	0.002464	T	0.04634	0.0126	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27054	-1.0085	5	0.18710	T	0.47	.	.	.	.	.	439	Q01113	IL9R_HUMAN	S	439;418	ENSP00000244174:N439S;ENSP00000388918:N418S	ENSP00000244174:N439S	N	+	2	0	IL9R	154893018	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	-1.580000	0.02121	-1.735000	0.01353	-1.704000	0.00719	AAC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		5	17	0	0	0	1	0	5	17				
NFATC1	4772	broad.mit.edu	37	18	77170881	77170881	+	Silent	SNP	G	G	A	rs146509068		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77170881G>A	ENST00000427363.2	+	2	606	c.606G>A	c.(604-606)acG>acA	p.T202T	NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000318065.5_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.T202T|NFATC1_ENST00000542384.1_Silent_p.T202T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000329101.4_Silent_p.T189T			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	202	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCCCCCAGACGTCGCCATGGC	0.697																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(604-606)acG>acA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		G	,,,,	0,4406		0,0,2203	66.0	70.0	69.0		606,567,,567,606	-1.9	1.0	18	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,	202/826,189/931,,189/813,202/717	77170881	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170881G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.606G>A	18.37:g.77170881G>A						NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.T202T|NFATC1_ENST00000427363.2_Silent_p.T202T|NFATC1_ENST00000329101.4_Silent_p.T189T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000318065.5_Silent_p.T189T	p.T202T	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	975	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	202			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.606G>A																																																																																					0.697	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		11	101	0	0	0	1	0	11	101				
UBQLN3	50613	broad.mit.edu	37	11	5530434	5530434	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:5530434G>C	ENST00000311659.4	-	2	502	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	119										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTTGGCTGAGGGAGTGAT	0.607																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(355-357)Cag>Gag		ubiquilin 3							70.0	65.0	66.0					11																	5530434		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530434G>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.355C>G	11.37:g.5530434G>C	ENSP00000347997:p.Gln119Glu					HBG2_ENST00000380259.2_Intron	p.Q119E	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	502	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	119					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.355C>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.659644	0.00772	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52057	1.21;0.68	5.59	3.66	0.41972	.	0.879217	0.09593	N	0.781239	T	0.46112	0.1376	M	0.73962	2.25	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.41305	-0.9516	10	0.19147	T	0.46	.	7.727	0.28765	0.2001:0.0:0.7999:0.0	.	119	Q9H347	UBQL3_HUMAN	E	119	ENSP00000347997:Q119E;ENSP00000412561:Q119E	ENSP00000347997:Q119E	Q	-	1	0	UBQLN3	5487010	0.033000	0.19621	0.046000	0.18839	0.446000	0.32137	0.873000	0.28052	0.771000	0.33359	0.585000	0.79938	CAG		0.607	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		4	46	0	0	0	1	0	4	46				
FAM117A	81558	broad.mit.edu	37	17	47797166	47797166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:47797166C>G	ENST00000240364.2	-	5	743	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	222										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						AATACCTCCTCCAGCTCTTGG	0.637																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(664-666)Gag>Cag		family with sequence similarity 117, member A							83.0	90.0	87.0					17																	47797166		2202	4300	6502	SO:0001583	missense	81558							g.chr17:47797166C>G	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.664G>C	17.37:g.47797166C>G	ENSP00000240364:p.Glu222Gln					RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	p.E222Q	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			5	743	-			222					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.664G>C	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982486	0.93044	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.55990	1.75	0.80722	D	1	D	0.63046	0.992	P	0.55455	0.776	T	0.68965	-0.5270	9	0.59425	D	0.04	-25.9364	16.4182	0.83750	0.0:1.0:0.0:0.0	.	222	Q9C073	F117A_HUMAN	Q	222;112;190	.	ENSP00000240364:E222Q	E	-	1	0	FAM117A	45152165	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.880000	0.75578	2.632000	0.89209	0.655000	0.94253	GAG		0.637	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		8	93	0	0	0	1	0	8	93				
CEP192	55125	broad.mit.edu	37	18	13095576	13095576	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:13095576C>T	ENST00000325971.8	+	33	6134	c.4541C>T	c.(4540-4542)tCt>tTt	p.S1514F	CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.S2110F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1514					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTC	0.507																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6328-6330)tCt>tTt		centrosomal protein 192kDa							96.0	95.0	96.0					18																	13095576		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13095576C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4541C>T	18.37:g.13095576C>T	ENSP00000317156:p.Ser1514Phe					CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1514F	p.S2110F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6409	+			1705					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6329C>T		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672901	0.88445	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.37058	1.22;1.22;1.22	5.91	5.91	0.95273	.	0.184523	0.51477	D	0.000089	T	0.55529	0.1926	M	0.61703	1.905	0.37173	D	0.903123	D;D;D;D	0.62365	0.986;0.991;0.986;0.958	P;P;P;P	0.61201	0.814;0.885;0.748;0.66	T	0.60860	-0.7179	10	0.62326	D	0.03	-14.0065	16.5218	0.84319	0.0:0.8695:0.1305:0.0	.	1635;2110;114;712	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	F	2110;1514;1514;1635;114	ENSP00000427550:S2110F;ENSP00000317156:S1514F;ENSP00000389190:S1635F	ENSP00000317156:S1514F	S	+	2	0	CEP192	13085576	0.030000	0.19436	0.985000	0.45067	0.742000	0.42306	1.625000	0.37029	2.803000	0.96430	0.650000	0.86243	TCT		0.507	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	75	0	0	0	1	0	8	75				
ME2	4200	broad.mit.edu	37	18	48465980	48465980	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:48465980T>C	ENST00000321341.5	+	14	1730	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	ME2_ENST00000585680.1_Intron|ME2_ENST00000382927.3_Intron	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	486					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CCCGGCATATTAGTGACAGTG	0.299																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(1456-1458)atT>atC		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						122.0	121.0	121.0					18																	48465980		2203	4300	6503	SO:0001819	synonymous_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48465980T>C	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1458T>C	18.37:g.48465980T>C						ME2_ENST00000585680.1_Intron|ME2_ENST00000382927.3_Intron	p.I486I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	14	1730	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	486					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	c.1458T>C	CCDS11948.1																																																																																				0.299	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		5	85	0	0	0	1	0	5	85				
MICAL1	64780	broad.mit.edu	37	6	109765452	109765452	+	Missense_Mutation	SNP	C	C	T	rs368885343		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:109765452C>T	ENST00000358807.3	-	25	3457	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H|MICAL1_ENST00000368952.4_Missense_Mutation_p.R1068H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1049					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCCTGGAAGCGGATGAGGGC	0.592																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3202-3204)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	39.0	38.0		2888,3146	4.4	1.0	6		38	0,8600		0,0,4300	no	missense,missense	MICAL1	NM_001159291.1,NM_022765.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	963/982,1049/1068	109765452	1,13005	2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765452C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3146G>A	6.37:g.109765452C>T	ENSP00000351664:p.Arg1049His					MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1049H	p.R1068H			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	25	3493	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	1049					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.3203G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044044	0.55110	2.27E-4	0.0	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44881	0.91;0.91;0.91	5.3	4.42	0.53409	Domain of unknown function DUF3585 (1);	0.608855	0.16130	N	0.228239	T	0.35068	0.0919	L	0.37466	1.105	0.25567	N	0.986935	D;D;D	0.89917	0.986;1.0;0.971	P;D;P	0.65773	0.631;0.938;0.643	T	0.16188	-1.0411	10	0.54805	T	0.06	.	9.0731	0.36504	0.0:0.8962:0.0:0.1038	.	1068;963;1049	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	1049;1068;963;573;305	ENSP00000351664:R1049H;ENSP00000357948:R1068H;ENSP00000351385:R963H	ENSP00000335372:R305H	R	-	2	0	MICAL1	109872145	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.208000	0.32345	1.206000	0.43276	0.462000	0.41574	CGC		0.592	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		4	43	0	0	0	1	0	4	43				
DNMBP	23268	broad.mit.edu	37	10	101715777	101715777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:101715777G>C	ENST00000324109.4	-	4	1545	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Nonsense_Mutation_p.S485*	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	485					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTTGAAGCTGAAACAGAAGA	0.463																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1453-1455)tCa>tGa		dynamin binding protein							107.0	117.0	113.0					10																	101715777		2203	4300	6503	SO:0001587	stop_gained	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715777G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1454C>G	10.37:g.101715777G>C	ENSP00000315659:p.Ser485*					DNMBP_ENST00000324109.4_Nonsense_Mutation_p.S485*|DNMBP-AS1_ENST00000434409.1_RNA	p.S485*			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1545	-		Colorectal(252;0.234)	485					Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	c.1454C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335079	0.81801	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.92	1.64	0.23874	.	1.727580	0.03280	N	0.186073	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	3.6331	6.6749	0.23087	0.2171:0.0:0.6618:0.121	.	.	.	.	X	485	.	ENSP00000315659:S485X	S	-	2	0	DNMBP	101705767	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.305000	0.19254	0.031000	0.15407	0.561000	0.74099	TCA		0.463	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		7	117	0	0	0	1	0	7	117				
ZNF804B	219578	broad.mit.edu	37	7	88962840	88962840	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:88962840C>T	ENST00000333190.4	+	4	1153	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182							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)			CGATAAACAGCGGTCCACCAT	0.413										HNSCC(36;0.09)																												ENST00000333190.4																			0				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						c.(544-546)Cgg>Tgg		zinc finger protein 804B							113.0	109.0	110.0					7																	88962840		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962840C>T	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.544C>T	7.37:g.88962840C>T	ENSP00000329638:p.Arg182Trp	HNSCC(36;0.09)					p.R182W	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1153	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		182					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.544C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428774	0.25726	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.3	2.42	0.29668	.	0.116218	0.39210	N	0.001436	T	0.10380	0.0254	L	0.40543	1.245	0.28638	N	0.907327	D	0.76494	0.999	P	0.53185	0.72	T	0.03473	-1.1033	10	0.87932	D	0	-2.3836	10.323	0.43777	0.3886:0.486:0.1253:0.0	.	182	A4D1E1	Z804B_HUMAN	W	182	ENSP00000329638:R182W	ENSP00000329638:R182W	R	+	1	2	ZNF804B	88800776	0.462000	0.25791	0.791000	0.31998	0.767000	0.43475	0.099000	0.15210	0.341000	0.23771	-0.175000	0.13238	CGG		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		5	79	0	0	0	1	0	5	79				
CDH8	1006	broad.mit.edu	37	16	62055216	62055216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:62055216G>T	ENST00000577390.1	-	2	1046	c.92C>A	c.(91-93)cCg>cAg	p.P31Q	CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q|CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	31					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGATTCATCGGAGCCATGTA	0.458																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(91-93)cCg>cAg		cadherin 8, type 2							78.0	79.0	78.0					16																	62055216		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055216G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.92C>A	16.37:g.62055216G>T	ENSP00000462701:p.Pro31Gln					CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q	p.P31Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1046	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	31					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.92C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025965	0.54683	.	.	ENSG00000150394	ENST00000299345	T	0.54675	0.56	6.17	6.17	0.99709	.	0.262657	0.37955	N	0.001874	T	0.57080	0.2029	L	0.59436	1.845	0.58432	D	0.999993	P	0.44090	0.826	B	0.43754	0.43	T	0.49818	-0.8899	10	0.28530	T	0.3	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P55286	CADH8_HUMAN	Q	31	ENSP00000299345:P31Q	ENSP00000299345:P31Q	P	-	2	0	CDH8	60612717	1.000000	0.71417	0.976000	0.42696	0.729000	0.41735	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	CCG		0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	88	1	0	5.18039e-06	1	5.59299e-06	7	88				
ANKS6	203286	broad.mit.edu	37	9	101552604	101552604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:101552604G>A	ENST00000353234.4	-	2	691	c.644C>T	c.(643-645)gCg>gTg	p.A215V	ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	215						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTGGGGTCCGCGCCCCACTC	0.692																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(643-645)gCg>gTg		ankyrin repeat and sterile alpha motif domain containing 6							36.0	40.0	38.0					9																	101552604		2050	4174	6224	SO:0001583	missense	203286							g.chr9:101552604G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.644C>T	9.37:g.101552604G>A	ENSP00000297837:p.Ala215Val					ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR	p.A215V			Q68DC2	ANKS6_HUMAN			2	691	-		Acute lymphoblastic leukemia(62;0.0527)	215					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.644C>T	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525108	0.85600	.	.	ENSG00000165138	ENST00000375018;ENST00000353234;ENST00000540940	T;T;T	0.70516	0.19;0.19;-0.49	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.051287	0.85682	D	0.000000	D	0.83510	0.5270	M	0.70903	2.155	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.84970	0.0882	10	0.72032	D	0.01	-16.3924	16.8355	0.85956	0.0:0.0:1.0:0.0	.	215	Q68DC2	ANKS6_HUMAN	V	215;215;20	ENSP00000364158:A215V;ENSP00000297837:A215V;ENSP00000442189:A20V	ENSP00000297837:A215V	A	-	2	0	ANKS6	100592425	1.000000	0.71417	0.311000	0.25182	0.454000	0.32378	9.289000	0.96061	2.571000	0.86741	0.561000	0.74099	GCG		0.692	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		6	51	0	0	0	1	0	6	51				
KYNU	8942	broad.mit.edu	37	2	143676239	143676239	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:143676239C>A	ENST00000410015.2	+	3	321	c.231C>A	c.(229-231)ggC>ggA	p.G77G	KYNU_ENST00000375773.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G|KYNU_ENST00000264170.4_Silent_p.G77G					kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATTCTCTTGGCCTTCAACCAA	0.279																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(229-231)ggC>ggA		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						41.0	44.0	43.0					2																	143676239		2201	4291	6492	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143676239C>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000410015.2:c.231C>A	2.37:g.143676239C>A						KYNU_ENST00000410015.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G|KYNU_ENST00000375773.2_Silent_p.G77G	p.G77G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	3	489	+			77						Silent	SNP	ENST00000410015.2	37	c.231C>A																																																																																					0.279	KYNU-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000332172.2	NM_001032998		5	51	1	0	0.000602214	1	0.000622628	5	51				
COL16A1	1307	broad.mit.edu	37	1	32163681	32163681	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32163681G>T	ENST00000373672.3	-	6	999	c.483C>A	c.(481-483)ccC>ccA	p.P161P	COL16A1_ENST00000271069.6_Silent_p.P161P|COL16A1_ENST00000373668.3_Silent_p.P161P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	161	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGAAGAGCTGGGGCACTGGGA	0.617																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(481-483)ccC>ccA		collagen, type XVI, alpha 1							50.0	57.0	54.0					1																	32163681		2158	4258	6416	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32163681G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.483C>A	1.37:g.32163681G>T						COL16A1_ENST00000271069.6_Silent_p.P161P|COL16A1_ENST00000373668.3_Silent_p.P161P	p.P161P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	6	999	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	161			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.483C>A	CCDS41297.1																																																																																				0.617	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		9	68	1	0	1.12685e-05	1	1.21017e-05	9	68				
CDH9	1007	broad.mit.edu	37	5	26906877	26906877	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:26906877G>C	ENST00000231021.4	-	4	766	c.594C>G	c.(592-594)gtC>gtG	p.V198V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATATGCTATAGACCACTTTGG	0.398																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(592-594)gtC>gtG		cadherin 9, type 2 (T1-cadherin)							127.0	113.0	117.0					5																	26906877		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906877G>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.594C>G	5.37:g.26906877G>C							p.V198V	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			4	766	-			198			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.594C>G	CCDS3893.1																																																																																				0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		4	52	0	0	0	1	0	4	52				
ZEB1	6935	broad.mit.edu	37	10	31816027	31816027	+	Silent	SNP	A	A	G	rs577934227		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31816027A>G	ENST00000320985.10	+	9	3320	c.3210A>G	c.(3208-3210)gaA>gaG	p.E1070E	ZEB1_ENST00000446923.2_Silent_p.E1054E|ZEB1_ENST00000560721.2_Silent_p.E1050E|ZEB1_ENST00000542815.3_Silent_p.E1003E|ZEB1_ENST00000361642.5_Silent_p.E1071E			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1070	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aggaggaggaagaagtggaag	0.448													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18508	0.0		0.0	False		,,,				2504	0.0				Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(3160-3162)gaA>gaG		zinc finger E-box binding homeobox 1							123.0	123.0	123.0					10																	31816027		2202	4300	6502	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31816027A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3210A>G	10.37:g.31816027A>G						ZEB1_ENST00000560721.2_Silent_p.E1050E|ZEB1_ENST00000542815.3_Silent_p.E1003E|ZEB1_ENST00000361642.5_Silent_p.E1071E|ZEB1_ENST00000320985.10_Silent_p.E1070E	p.E1054E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3553	+		Prostate(175;0.0156)	1070			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.3162A>G	CCDS7169.1																																																																																				0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		3	20	0	0	0	1	0	3	20				
GCM1	8521	broad.mit.edu	37	6	52998973	52998973	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52998973G>T	ENST00000259803.7	-	3	436	c.225C>A	c.(223-225)tcC>tcA	p.S75S		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	75					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACCCAGGCAGGACTTCTTGA	0.607																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(223-225)tcC>tcA		glial cells missing homolog 1 (Drosophila)							122.0	115.0	117.0					6																	52998973		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52998973G>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.225C>A	6.37:g.52998973G>T							p.S75S	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			3	436	-	Lung NSC(77;0.0755)		75					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.225C>A	CCDS4950.1																																																																																				0.607	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			7	87	1	0	1.6384e-10	1	1.80401e-10	7	87				
NCKAP1L	3071	broad.mit.edu	37	12	54894338	54894338	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54894338C>T	ENST00000293373.6	+	3	314	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	79					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R79C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCAGTACATCGTGAAAAAGC	0.378																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R79C(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(235-237)Cgt>Tgt		NCK-associated protein 1-like							174.0	165.0	168.0					12																	54894338		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54894338C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.235C>T	12.37:g.54894338C>T	ENSP00000293373:p.Arg79Cys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C	p.R79C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			3	314	+			79					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.235C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954845	0.73902	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.31769	1.48;1.48	5.06	4.11	0.48088	.	0.214383	0.35805	N	0.002964	T	0.37544	0.1007	L	0.36672	1.1	0.42698	D	0.993604	D	0.76494	0.999	P	0.57960	0.83	T	0.12993	-1.0526	10	0.59425	D	0.04	-13.7326	11.3843	0.49776	0.2753:0.7247:0.0:0.0	.	79	P55160	NCKPL_HUMAN	C	79;29	ENSP00000293373:R79C;ENSP00000445596:R29C	ENSP00000293373:R79C	R	+	1	0	NCKAP1L	53180605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.019000	0.49635	2.506000	0.84524	0.460000	0.39030	CGT		0.378	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		9	163	0	0	0	1	0	9	163				
NOA1	84273	broad.mit.edu	37	4	57843646	57843646	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:57843646A>G	ENST00000264230.4	-	1	1343	c.106T>C	c.(106-108)Tgc>Cgc	p.C36R	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	36					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCGGCAGCGCACCTCCTCTCC	0.657																																						ENST00000264230.4																			0											c.(106-108)Tgc>Cgc		nitric oxide associated 1							25.0	25.0	25.0					4																	57843646		2202	4299	6501	SO:0001583	missense	84273						GTP binding	g.chr4:57843646A>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.106T>C	4.37:g.57843646A>G	ENSP00000264230:p.Cys36Arg						p.C36R	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1343	-			36					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.106T>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	A	9.992	1.231199	0.22626	.	.	ENSG00000084092	ENST00000264230	T	0.31247	1.5	4.67	-4.63	0.03359	.	3.833190	0.00822	N	0.001588	T	0.18964	0.0455	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.40728	T	0.16	.	7.7873	0.29099	0.5271:0.1102:0.3627:0.0	.	36	Q8NC60	CD014_HUMAN	R	36	ENSP00000264230:C36R	ENSP00000264230:C36R	C	-	1	0	C4orf14	57538403	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.310000	0.08135	-1.310000	0.02312	-1.789000	0.00628	TGC		0.657	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		4	40	0	0	0	1	0	4	40				
WFDC3	140686	broad.mit.edu	37	20	44404233	44404233	+	Missense_Mutation	SNP	C	C	T	rs376220123		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:44404233C>T	ENST00000243938.4	-	6	585	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	168	WAP 4. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGACAATCACCGCCCCGCCCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19719	0.001		0.0	False		,,,				2504	0.0					ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(502-504)Ggt>Agt		WAP four-disulfide core domain 3		C	SER/GLY	0,4406		0,0,2203	125.0	108.0	114.0		502	4.6	0.1	20		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	WFDC3	NM_080614.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	168/232	44404233	1,13005	2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44404233C>T	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.502G>A	20.37:g.44404233C>T	ENSP00000243938:p.Gly168Ser					WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S|WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR	p.G168S	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			6	585	-		Myeloproliferative disorder(115;0.0122)	168			WAP 4.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.502G>A	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732997	0.69189	0.0	1.16E-4	ENSG00000124116	ENST00000243938;ENST00000372630;ENST00000372632	T;T;D	0.96774	0.59;0.59;-4.12	4.57	4.57	0.56435	Whey acidic protein, 4-disulphide core (5);	0.000000	0.42682	D	0.000668	D	0.98416	0.9473	M	0.94063	3.49	0.19300	N	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.93871	0.7162	10	0.87932	D	0	-17.6118	13.0674	0.59041	0.0:1.0:0.0:0.0	.	168	Q8IUB2	WFDC3_HUMAN	S	168;31;74	ENSP00000243938:G168S;ENSP00000361713:G31S;ENSP00000361715:G74S	ENSP00000243938:G168S	G	-	1	0	WFDC3	43837640	0.309000	0.24518	0.102000	0.21198	0.010000	0.07245	3.169000	0.50809	2.568000	0.86640	0.655000	0.94253	GGT		0.532	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			6	83	0	0	0	1	0	6	83				
MAST1	22983	broad.mit.edu	37	19	12978714	12978714	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12978714C>T	ENST00000251472.4	+	20	2528	c.2489C>T	c.(2488-2490)gCg>gTg	p.A830V		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCGACCCCGCGGGATCCCTG	0.711																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2488-2490)gCg>gTg		microtubule associated serine/threonine kinase 1							14.0	19.0	17.0					19																	12978714		2181	4266	6447	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978714C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2489C>T	19.37:g.12978714C>T	ENSP00000251472:p.Ala830Val						p.A830V	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			20	2528	+			830						Missense_Mutation	SNP	ENST00000251472.4	37	c.2489C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649911	0.14516	.	.	ENSG00000105613	ENST00000251472	T	0.64260	-0.09	3.59	3.59	0.41128	.	0.604547	0.15299	N	0.269709	T	0.39937	0.1097	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.27785	T	0.31	-6.6359	11.4072	0.49904	0.0:1.0:0.0:0.0	.	830	Q9Y2H9	MAST1_HUMAN	V	830	ENSP00000251472:A830V	ENSP00000251472:A830V	A	+	2	0	MAST1	12839714	0.173000	0.23056	0.992000	0.48379	0.054000	0.15201	4.094000	0.57721	1.937000	0.56155	0.549000	0.68633	GCG		0.711	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		6	21	0	0	0	1	0	6	21				
MAPKBP1	23005	broad.mit.edu	37	15	42104154	42104154	+	Splice_Site	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42104154G>A	ENST00000456763.2	+	6	523		c.e6-1		MAPKBP1_ENST00000221214.6_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000457542.2_Splice_Site	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1											breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTCCCTGCAGAGTGGGCACA	0.607											OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.e6-1		mitogen-activated protein kinase binding protein 1							77.0	67.0	71.0					15																	42104154		2203	4300	6503	SO:0001630	splice_region_variant	23005							g.chr15:42104154G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.328-1G>A	15.37:g.42104154G>A			OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MAPKBP1_ENST00000456763.2_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site		NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	6	613	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)						A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Splice_Site	SNP	ENST00000456763.2	37		CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.317342	0.81469	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2791	0.94044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPKBP1	39891446	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.553000	0.86117	0.645000	0.84053	.		0.607	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	Intron	6	49	0	0	0	1	0	6	49				
PSG2	5670	broad.mit.edu	37	19	43585208	43585208	+	Silent	SNP	G	G	A	rs148293206	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43585208G>A	ENST00000406487.1	-	2	353	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	85	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTATTTGACCGTCTACTACAT	0.443													G|||	5	0.000998403	0.0	0.0	5008	,	,		20886	0.002		0.003	False		,,,				2504	0.0					ENST00000406487.1																			1	Substitution - coding silent(1)	p.D85D(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(253-255)gaC>gaT		pregnancy specific beta-1-glycoprotein 2		G		0,4406		0,0,2203	199.0	202.0	201.0		255	-1.1	0.0	19	dbSNP_134	201	3,8593		0,3,4295	no	coding-synonymous	PSG2	NM_031246.3		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		85/336	43585208	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585208G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.255C>T	19.37:g.43585208G>A							p.D85D	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	353	-		Prostate(69;0.00682)	85			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.255C>T	CCDS12616.1																																																																																				0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		14	363	0	0	0	1	0	14	363				
ZNF880	400713	broad.mit.edu	37	19	52887776	52887776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:52887776C>T	ENST00000422689.2	+	4	958	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	315					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCACGACATCAGAAAATTCA	0.423																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(943-945)Cag>Tag		zinc finger protein 880							59.0	54.0	55.0					19																	52887776		1568	3582	5150	SO:0001587	stop_gained	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887776C>T	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.943C>T	19.37:g.52887776C>T	ENSP00000406318:p.Gln315*						p.Q315*	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	958	+			315					B4DNA6	Nonsense_Mutation	SNP	ENST00000422689.2	37	c.943C>T	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450028	0.26074	.	.	ENSG00000221923	ENST00000422689	.	.	.	1.89	-0.588	0.11687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6613	0.05027	0.2163:0.3341:0.0:0.4496	.	.	.	.	X	315	.	.	Q	+	1	0	ZNF880	57579588	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.086000	0.14935	-0.251000	0.09542	-0.404000	0.06349	CAG		0.423	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		8	43	0	0	0	1	0	8	43				
IGFBP3	3486	broad.mit.edu	37	7	45956231	45956231	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:45956231A>T	ENST00000275521.6	-	3	799	c.666T>A	c.(664-666)aaT>aaA	p.N222K	IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	222	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTCAGGTGATTCAGTGTGT	0.463																																						ENST00000275521.6																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(664-666)aaT>aaA		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						192.0	165.0	174.0					7																	45956231		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956231A>T		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.666T>A	7.37:g.45956231A>T	ENSP00000275521:p.Asn222Lys					IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K|IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K	p.N222K	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			3	799	-			222			Thyroglobulin type-1.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.666T>A	CCDS5505.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.08|16.08|16.08	3.021831|3.021831|3.021831	0.54576|0.54576|0.54576	.|.|.	.|.|.	ENSG00000146674|ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	.|T;T;T;T|.	.|0.62498|.	.|0.03;0.03;0.03;0.02|.	4.83|4.83|4.83	1.77|1.77|1.77	0.24775|0.24775|0.24775	.|Thyroglobulin type-1 (3);|.	.|0.108239|.	.|0.64402|.	.|D|.	.|0.000005|.	T|T|T	0.23572|0.23572|0.23572	0.0570|0.0570|0.0570	N|N|N	0.11756|0.11756|0.11756	0.17|0.17|0.17	0.29994|0.29994|0.29994	N|N|N	0.816637|0.816637|0.816637	.|B;B;P|.	.|0.38223|.	.|0.363;0.363;0.623|.	.|P;P;P|.	.|0.46885|.	.|0.53;0.53;0.53|.	T|T|T	0.27191|0.27191|0.27191	-1.0081|-1.0081|-1.0081	5|10|5	.|0.32370|.	.|T|.	.|0.25|.	-49.9112|-49.9112|-49.9112	8.2126|8.2126|8.2126	0.31492|0.31492|0.31492	0.3269:0.0:0.6731:0.0|0.3269:0.0:0.6731:0.0|0.3269:0.0:0.6731:0.0	.|.|.	.|125;222;207|.	.|B3KWK7;P17936;B4DN53|.	.|.;IBP3_HUMAN;.|.	N|K|T	74|199;222;125;208;120;228;194;112|84	.|ENSP00000275521:N222K;ENSP00000370476:N125K;ENSP00000370473:N228K;ENSP00000389668:N112K|.	.|ENSP00000275521:N222K|.	I|N|S	-|-|-	2|3|1	0|2|0	IGFBP3|IGFBP3|IGFBP3	45922756|45922756|45922756	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.608000|0.608000|0.608000	0.28969|0.28969|0.28969	0.944000|0.944000|0.944000	0.59088|0.59088|0.59088	0.287000|0.287000|0.287000	0.18920|0.18920|0.18920	0.031000|0.031000|0.031000	0.15407|0.15407|0.15407	-0.274000|-0.274000|-0.274000	0.10170|0.10170|0.10170	ATC|AAT|TCA		0.463	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		12	119	0	0	0	1	0	12	119				
SMARCD3	6604	broad.mit.edu	37	7	150945607	150945607	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:150945607C>T	ENST00000262188.8	-	1	452	c.42G>A	c.(40-42)acG>acA	p.T14T	SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000392811.2_Intron|RP5-1070G24.2_ENST00000466775.1_RNA|SMARCD3_ENST00000477169.1_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	14					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTTGCTTTTCGTGGCTTTGC	0.592																																						ENST00000262188.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(40-42)acG>acA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3							90.0	87.0	88.0					7																	150945607		2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150945607C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.42G>A	7.37:g.150945607C>T						SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron	p.T14T	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	452	-			14					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.42G>A	CCDS34780.1																																																																																				0.592	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		5	99	0	0	0	1	0	5	99				
SCAF11	9169	broad.mit.edu	37	12	46322292	46322292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:46322292C>G	ENST00000369367.3	-	11	1425	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SCAF11_ENST00000465950.1_Missense_Mutation_p.E83Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E398Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.E206Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	398					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGATTTTTCAGGGGCAGCT	0.408																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(247-249)Gaa>Caa		SR-related CTD-associated factor 11							111.0	107.0	109.0					12																	46322292		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322292C>G	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1192G>C	12.37:g.46322292C>G	ENSP00000358374:p.Glu398Gln					SCAF11_ENST00000549162.1_Missense_Mutation_p.E206Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E398Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E398Q	p.E83Q			Q99590	SCAFB_HUMAN			1	1456	-			398					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.247G>C	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035847	0.75617	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.52526	1.29;2.03;1.3;2.03;0.66	6.08	6.08	0.98989	.	0.244791	0.36167	N	0.002759	T	0.56247	0.1972	L	0.32530	0.975	0.29339	N	0.866181	D;D	0.67145	0.996;0.981	P;P	0.61658	0.892;0.69	T	0.54105	-0.8343	10	0.49607	T	0.09	-14.3293	16.8679	0.86033	0.0:0.872:0.128:0.0	.	206;398	F8VXG7;Q99590	.;SCAFB_HUMAN	Q	83;398;206;398;338	ENSP00000449812:E83Q;ENSP00000358374:E398Q;ENSP00000448864:E206Q;ENSP00000413036:E398Q;ENSP00000446746:E338Q	ENSP00000358374:E398Q	E	-	1	0	SCAF11	44608559	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.078000	0.41567	2.894000	0.99253	0.591000	0.81541	GAA		0.408	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	119	0	0	0	1	0	8	119				
TACC3	10460	broad.mit.edu	37	4	1729444	1729444	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:1729444C>T	ENST00000313288.4	+	4	421	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	105					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCAACAGCTCATCAAGGAAG	0.483																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(313-315)ctC>ctT		transforming, acidic coiled-coil containing protein 3							217.0	239.0	232.0					4																	1729444		2195	4278	6473	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729444C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.315C>T	4.37:g.1729444C>T							p.L105L	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	421	+		Breast(71;0.212)|all_epithelial(65;0.241)	105					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.315C>T	CCDS3352.1																																																																																				0.483	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			31	350	0	0	0	1	0	31	350				
CCER1	196477	broad.mit.edu	37	12	91348417	91348417	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:91348417A>G	ENST00000358859.2	-	1	536	c.103T>C	c.(103-105)Tgg>Cgg	p.W35R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	35																	CAGGACGACCAGGAGCTCAAG	0.657																																						ENST00000358859.2																			0											c.(103-105)Tgg>Cgg		coiled-coil glutamate-rich protein 1							15.0	15.0	15.0					12																	91348417		2201	4300	6501	SO:0001583	missense	196477							g.chr12:91348417A>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.103T>C	12.37:g.91348417A>G	ENSP00000351727:p.Trp35Arg					CCER1_ENST00000548187.1_Intron	p.W35R	NM_152638.2	NP_689851.1					1	536	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.103T>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301986	0.40694	.	.	ENSG00000197651	ENST00000358859	T	0.34472	1.36	5.08	5.08	0.68730	.	0.270748	0.20023	N	0.100875	T	0.44180	0.1281	L	0.27053	0.805	0.31935	N	0.611692	D	0.67145	0.996	D	0.67548	0.952	T	0.53697	-0.8402	10	0.87932	D	0	-10.7771	11.1679	0.48554	1.0:0.0:0.0:0.0	.	35	Q8TC90	CL012_HUMAN	R	35	ENSP00000351727:W35R	ENSP00000351727:W35R	W	-	1	0	C12orf12	89872548	0.991000	0.36638	0.621000	0.29145	0.079000	0.17450	2.462000	0.45049	2.139000	0.66308	0.379000	0.24179	TGG		0.657	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		3	15	0	0	0	1	0	3	15				
PSENEN	55851	broad.mit.edu	37	19	36237739	36237739	+	Silent	SNP	C	C	T	rs148274462		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36237739C>T	ENST00000587708.2	+	4	980	c.297C>T	c.(295-297)ggC>ggT	p.G99G	AC002398.9_ENST00000591613.2_Intron|AD000671.6_ENST00000589807.1_5'Flank|LIN37_ENST00000301159.9_5'Flank|AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000292879.5_5'Flank|U2AF1L4_ENST00000378975.3_5'Flank|PSENEN_ENST00000222266.2_Silent_p.G99G|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000588100.1_5'Flank|PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000412391.2_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	99					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCTGGGCACCCCCTGAC	0.592																																						ENST00000587708.2																			0				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8						c.(295-297)ggC>ggT		presenilin enhancer gamma secretase subunit		C		1,4405	2.1+/-5.4	0,1,2202	34.0	36.0	36.0		297	-8.5	0.7	19	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	PSENEN	NM_172341.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		99/102	36237739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55851				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr19:36237739C>T	AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.297C>T	19.37:g.36237739C>T						PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Silent_p.G99G	p.G99G			Q9NZ42	PEN2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	980	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		99					B2R5L9	Silent	SNP	ENST00000587708.2	37	c.297C>T	CCDS12474.1																																																																																				0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		8	37	0	0	0	1	0	8	37				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48744600	48744600	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:48744600G>C	ENST00000341698.2	-	5	602	c.603C>G	c.(601-603)ctC>ctG	p.L201L	TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371650.5_Silent_p.L198L|TMEM189_ENST00000557021.1_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			AGTCCTGCAGGAGGGTGACCC	0.587																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(601-603)ctC>ctG		transmembrane protein 189							233.0	147.0	176.0					20																	48744600		2203	4300	6503	SO:0001819	synonymous_variant	387521							g.chr20:48744600G>C	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.603C>G	20.37:g.48744600G>C						TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371650.5_Silent_p.L198L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L	p.L201L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		5	763	-									Silent	SNP	ENST00000341698.2	37	c.603C>G	CCDS13424.1																																																																																				0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			7	58	0	0	0	1	0	7	58				
MAGEA5	4104	broad.mit.edu	37	X	151284016	151284016	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:151284016G>A	ENST00000509345.2	-	0	320																											GAGACATGACGACTCTGGTCA	0.592																																						ENST00000509345.2																			0																				64.0	67.0	66.0					X																	151284016		2203	4299	6502			4104							g.chrX:151284016G>A																													X.37:g.151284016G>A														0	320	-									RNA	SNP	ENST00000509345.2	37																																																																																						0.592	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			9	146	0	0	0	1	0	9	146				
DQX1	165545	broad.mit.edu	37	2	74756406	74756406	+	5'Flank	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74756406G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.F64F|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCCGCACTACGAATCTGGGGA	0.637																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(190-192)ttC>ttT		ancient ubiquitous protein 1							36.0	41.0	39.0					2																	74756406		2124	4228	6352	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756406G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756406G>A	Exception_encountered						p.F64F	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			3	501	-			87					Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.192C>T	CCDS1949.2																																																																																				0.637	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	30	0	0	0	1	0	4	30				
RANBP2	5903	broad.mit.edu	37	2	109383191	109383191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:109383191G>A	ENST00000283195.6	+	20	6322	c.6196G>A	c.(6196-6198)Gag>Aag	p.E2066K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2066	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTCAAAAACGAGGTCAATGG	0.398																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(6196-6198)Gag>Aag		RAN binding protein 2							159.0	184.0	176.0					2																	109383191		2201	4279	6480	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383191G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6196G>A	2.37:g.109383191G>A	ENSP00000283195:p.Glu2066Lys						p.E2066K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6322	+			2066			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6196G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350947	0.24512	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.37235	1.21	5.65	5.65	0.86999	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.11410	0.0278	N	0.00193	-1.875	0.27407	N	0.954683	B	0.34399	0.452	B	0.32090	0.14	T	0.11542	-1.0583	9	0.11182	T	0.66	-35.1005	19.718	0.96131	0.0:0.0:1.0:0.0	.	2066	P49792	RBP2_HUMAN	K	1090;2066	ENSP00000283195:E2066K	ENSP00000283195:E2066K	E	+	1	0	RANBP2	108749623	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.229000	0.51278	2.653000	0.90120	0.557000	0.71058	GAG		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		38	414	0	0	0	1	0	38	414				
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(874-876)Gaa>Aaa		cullin 1							63.0	60.0	61.0					7																	148463737		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148463737G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.874G>A	7.37:g.148463737G>A	ENSP00000326804:p.Glu292Lys					CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		8	1153	+	Melanoma(164;0.15)		292					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.874G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519607	0.96416	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.048471	0.85682	D	0.000000	D	0.88112	0.6349	M	0.93462	3.42	0.80722	D	1	D	0.62365	0.991	P	0.57468	0.821	D	0.91604	0.5297	10	0.72032	D	0.01	-13.5448	18.2561	0.90020	0.0:0.0:1.0:0.0	.	292	Q13616	CUL1_HUMAN	K	292;292;250;219	ENSP00000387160:E292K;ENSP00000326804:E292K	ENSP00000326804:E292K	E	+	1	0	CUL1	148094670	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	GAA		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		13	54	0	0	0	1	0	13	54				
GALNT16	57452	broad.mit.edu	37	14	69813867	69813867	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:69813867G>A	ENST00000337827.4	+	13	1709	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	GALNT16_ENST00000448469.3_Missense_Mutation_p.R461K|GALNT16_ENST00000553669.1_Missense_Mutation_p.R461K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	461	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGATCTGCAGAGGGTCTGCC	0.592											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337827.4																			0											c.(1381-1383)aGa>aAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							51.0	45.0	47.0					14																	69813867		2203	4300	6503	SO:0001583	missense	57452							g.chr14:69813867G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1382G>A	14.37:g.69813867G>A	ENSP00000336729:p.Arg461Lys		OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	GALNT16_ENST00000553669.1_Missense_Mutation_p.R461K|GALNT16_ENST00000448469.3_Missense_Mutation_p.R461K	p.R461K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					13	1709	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.1382G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695267	0.48202	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.27720	1.65;1.65;1.65	5.97	3.84	0.44239	Ricin B-related lectin (1);Ricin B lectin (3);	0.183845	0.56097	D	0.000032	T	0.16769	0.0403	N	0.16478	0.41	0.34895	D	0.745934	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.11251	-1.0595	10	0.38643	T	0.18	.	6.6705	0.23066	0.3467:0.0:0.6533:0.0	.	461;461	Q8N428;Q58A55	GLTL1_HUMAN;.	K	461;87;461;461	ENSP00000336729:R461K;ENSP00000402970:R461K;ENSP00000451200:R461K	ENSP00000336729:R461K	R	+	2	0	GALNTL1	68883620	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.835000	0.55805	1.537000	0.49254	0.655000	0.94253	AGA		0.592	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		3	34	0	0	0	1	0	3	34				
TNPO2	30000	broad.mit.edu	37	19	12826503	12826503	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:12826503C>T	ENST00000592287.1	-	5	484	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.E126K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E126K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E126K|TNPO2_ENST00000425528.1_Missense_Mutation_p.E126K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E126K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	126					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCAGCAGCTCGGGCCACATC	0.617																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(376-378)Gag>Aag		transportin 2							43.0	51.0	49.0					19																	12826503		2077	4204	6281	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826503C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.376G>A	19.37:g.12826503C>T	ENSP00000468434:p.Glu126Lys					TNPO2_ENST00000356861.5_Missense_Mutation_p.E126K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E126K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.E126K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E126K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E126K	p.E126K			O14787	TNPO2_HUMAN			6	733	-			126					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.376G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692892	0.88735	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.047188	0.85682	D	0.000000	D	0.82449	0.5039	M	0.89968	3.075	0.58432	D	0.999998	D;P	0.58970	0.984;0.882	P;B	0.49953	0.627;0.248	D	0.86867	0.2033	10	0.87932	D	0	-26.2228	18.0522	0.89353	0.0:1.0:0.0:0.0	.	290;126	Q4LE60;O14787	.;TNPO2_HUMAN	K	290;126;126;126;126;126;126	ENSP00000407182:E126K;ENSP00000389648:E126K;ENSP00000397379:E126K;ENSP00000349321:E126K	ENSP00000349321:E126K	E	-	1	0	TNPO2	12687503	1.000000	0.71417	0.961000	0.40146	0.943000	0.58893	5.491000	0.66887	2.563000	0.86464	0.555000	0.69702	GAG		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		3	21	0	0	0	1	0	3	21				
MAP3K19	80122	broad.mit.edu	37	2	135745629	135745629	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:135745629C>T	ENST00000375845.3	-	7	843	c.813G>A	c.(811-813)tcG>tcA	p.S271S	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S288S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S158S|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	271							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GATCCATCAACGACTTAACTA	0.483																																						ENST00000375845.3																			0											c.(811-813)tcG>tcA		mitogen-activated protein kinase kinase kinase 19							87.0	90.0	89.0					2																	135745629		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135745629C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.813G>A	2.37:g.135745629C>T						MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S288S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S158S|MAP3K19_ENST00000315513.3_5'UTR	p.S271S	NM_025052.3	NP_079328.3					7	843	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.813G>A	CCDS2176.2																																																																																				0.483	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		18	85	0	0	0	1	0	18	85				
FAM161B	145483	broad.mit.edu	37	14	74411111	74411111	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:74411111C>G	ENST00000534936.1	-	3	957	c.852G>C	c.(850-852)aaG>aaC	p.K284N	FAM161B_ENST00000286544.3_Missense_Mutation_p.K347N			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	284										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCTTGGAGATCTTGGCTTCAG	0.542																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1039-1041)aaG>aaC		family with sequence similarity 161, member B							105.0	106.0	105.0					14																	74411111		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74411111C>G	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.852G>C	14.37:g.74411111C>G	ENSP00000445326:p.Lys284Asn					FAM161B_ENST00000534936.1_Missense_Mutation_p.K284N	p.K347N	NM_152445.2	NP_689658.2					3	1239	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1041G>C		.	.	.	.	.	.	.	.	.	.	C	4.364	0.067012	0.08388	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.26518	1.73;1.73	4.88	1.9	0.25705	.	0.523424	0.18802	N	0.130743	T	0.28001	0.0690	M	0.70842	2.15	0.09310	N	1	B	0.21071	0.051	B	0.24541	0.054	T	0.20739	-1.0266	10	0.40728	T	0.16	-3.2996	10.5007	0.44804	0.0:0.397:0.5248:0.0781	.	284	Q96MY7	F161B_HUMAN	N	347;284	ENSP00000286544:K347N;ENSP00000445326:K284N	ENSP00000286544:K347N	K	-	3	2	FAM161B	73480864	0.308000	0.24509	0.095000	0.20976	0.163000	0.22366	0.409000	0.21082	0.198000	0.20407	0.563000	0.77884	AAG		0.542	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		8	145	0	0	0	1	0	8	145				
PDE4B	5142	broad.mit.edu	37	1	66827446	66827446	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:66827446C>G	ENST00000329654.4	+	10	1177	c.990C>G	c.(988-990)gtC>gtG	p.V330V	PDE4B_ENST00000480109.2_Silent_p.V97V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000371045.5_Silent_p.V158V|PDE4B_ENST00000423207.2_Silent_p.V315V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	330					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GCTTTGGAGTCAACACTGAAA	0.418																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(943-945)gtC>gtG		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						143.0	119.0	127.0					1																	66827446		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66827446C>G	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.990C>G	1.37:g.66827446C>G						PDE4B_ENST00000371045.5_Silent_p.V158V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000329654.4_Silent_p.V330V|PDE4B_ENST00000480109.2_Silent_p.V97V	p.V315V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			8	1430	+			330					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.945C>G	CCDS632.1																																																																																				0.418	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		6	57	0	0	0	1	0	6	57				
AHNAK	79026	broad.mit.edu	37	11	62291421	62291421	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:62291421C>T	ENST00000378024.4	-	5	10742	c.10468G>A	c.(10468-10470)Gaa>Aaa	p.E3490K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGCCCTTCTGCTTTTAAG	0.463																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10468-10470)Gaa>Aaa		AHNAK nucleoprotein							114.0	110.0	111.0					11																	62291421		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291421C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10468G>A	11.37:g.62291421C>T	ENSP00000367263:p.Glu3490Lys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.E3490K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10742	-		Melanoma(852;0.155)	3490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10468G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	10.76	1.441900	0.25900	.	.	ENSG00000124942	ENST00000378024	T	0.01560	4.77	4.51	4.51	0.55191	.	.	.	.	.	T	0.04998	0.0134	L	0.48877	1.53	0.43394	D	0.995516	D	0.67145	0.996	D	0.77557	0.99	T	0.57271	-0.7840	9	0.15952	T	0.53	.	8.4886	0.33086	0.0:0.8227:0.0:0.1773	.	3490	Q09666	AHNK_HUMAN	K	3490	ENSP00000367263:E3490K	ENSP00000367263:E3490K	E	-	1	0	AHNAK	62047997	0.544000	0.26441	1.000000	0.80357	0.284000	0.27059	1.818000	0.39012	2.230000	0.72887	0.453000	0.30009	GAA		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	129	0	0	0	1	0	7	129				
RPRML	388394	broad.mit.edu	37	17	45056080	45056080	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:45056080C>G	ENST00000322329.3	-	1	534	c.294G>C	c.(292-294)atG>atC	p.M98I	LRRC37A17P_ENST00000570478.1_RNA|GOSR2_ENST00000439730.2_Intron|RP11-156P1.2_ENST00000571841.1_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	98						integral component of membrane (GO:0016021)				lung(1)	1						GAAAGTTGATCATGCTCTCGG	0.657																																						ENST00000322329.3																			0				lung(1)	1						c.(292-294)atG>atC		reprimo-like							33.0	31.0	32.0					17																	45056080		2202	4300	6502	SO:0001583	missense	388394					integral to membrane		g.chr17:45056080C>G	BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.294G>C	17.37:g.45056080C>G	ENSP00000318032:p.Met98Ile					RP11-156P1.2_ENST00000571841.1_Intron|LRRC37A17P_ENST00000570478.1_RNA|GOSR2_ENST00000439730.2_Intron	p.M98I	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN			1	534	-			98						Missense_Mutation	SNP	ENST00000322329.3	37	c.294G>C	CCDS11508.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759095	0.89843	.	.	ENSG00000179673	ENST00000322329	.	.	.	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.72235	-0.4352	9	0.87932	D	0	-14.9721	14.3888	0.66963	0.0:1.0:0.0:0.0	.	98	Q8N4K4	RPRML_HUMAN	I	98	.	ENSP00000318032:M98I	M	-	3	0	RPRML	42411079	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.895000	0.75660	1.889000	0.54706	0.313000	0.20887	ATG		0.657	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440919.1	NM_203400		4	16	0	0	0	1	0	4	16				
TOP1MT	116447	broad.mit.edu	37	8	144398271	144398271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:144398271G>C	ENST00000329245.4	-	11	1390	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I354M|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	452					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGTAGGATAAGATCTTAGCTG	0.602																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1060-1062)atC>atG		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						173.0	141.0	152.0					8																	144398271		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398271G>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1356C>G	8.37:g.144398271G>C	ENSP00000328835:p.Ile452Met					TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I452M	p.I354M			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		12	1467	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		452					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1062C>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642674	0.67244	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.37	-1.38	0.09027	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.570312	0.14404	U	0.321730	T	0.43612	0.1255	M	0.70275	2.135	0.38709	D	0.953179	P;P	0.45594	0.862;0.687	P;B	0.48425	0.577;0.438	T	0.47812	-0.9088	10	0.54805	T	0.06	-1.3802	4.9402	0.13961	0.4713:0.1561:0.3726:0.0	.	247;452	E7ESI1;Q969P6	.;TOP1M_HUMAN	M	452;354;354;354	ENSP00000328835:I452M;ENSP00000428369:I354M;ENSP00000429169:I354M;ENSP00000429181:I354M	ENSP00000328835:I452M	I	-	3	3	TOP1MT	144469646	0.999000	0.42202	0.002000	0.10522	0.879000	0.50718	0.338000	0.19858	-0.242000	0.09667	0.609000	0.83330	ATC		0.602	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		6	77	0	0	0	1	0	6	77				
ATRX	546	broad.mit.edu	37	X	76937131	76937131	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:76937131G>C	ENST00000373344.5	-	9	3831	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1206	Interaction with DAXX.|Poly-Ser.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTATATCAGAAGAAGATGA	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3616-3618)tCt>tGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						177.0	147.0	157.0					X																	76937131		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937131G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3617C>G	X.37:g.76937131G>C	ENSP00000362441:p.Ser1206Cys					ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C|ATRX_ENST00000480283.1_5'UTR	p.S1206C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3831	-			1206			Poly-Ser.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3617C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905215	0.33628	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93366	-3.21;-3.21	5.63	5.63	0.86233	.	1.226980	0.06127	U	0.669839	D	0.95875	0.8657	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.912;0.991;0.98	D	0.89717	0.3916	10	0.66056	D	0.02	-8.0707	16.8002	0.85612	0.0:0.0:1.0:0.0	.	1206;1138;1168;1206	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	C	1206;1168;1133	ENSP00000362441:S1206C;ENSP00000378967:S1168C	ENSP00000362441:S1206C	S	-	2	0	ATRX	76823787	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	3.033000	0.49743	2.343000	0.79666	0.513000	0.50165	TCT		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	192	0	0	0	1	0	8	192				
IRGQ	126298	broad.mit.edu	37	19	44099016	44099016	+	Missense_Mutation	SNP	C	C	T	rs372119753		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:44099016C>T	ENST00000602269.1	-	1	660	c.475G>A	c.(475-477)Gag>Aag	p.E159K	ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000391965.2_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.E159K			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	159										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTAGCTCCTCGCAGCCGTCG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		13524	0.0		0.0	False		,,,				2504	0.001					ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(475-477)Gag>Aag		immunity-related GTPase family, Q		C	LYS/GLU	0,4406		0,0,2203	23.0	26.0	25.0		475	1.4	0.8	19		25	1,8599		0,1,4299	no	missense	IRGQ	NM_001007561.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	159/624	44099016	1,13005	2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44099016C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.475G>A	19.37:g.44099016C>T	ENSP00000472250:p.Glu159Lys					IRGQ_ENST00000602269.1_Missense_Mutation_p.E159K	p.E159K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			2	630	-		Prostate(69;0.0199)	159					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.475G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197754	0.38806	0.0	1.16E-4	ENSG00000167378	ENST00000422989	T	0.58210	0.35	4.65	1.42	0.22433	.	0.478112	0.18043	N	0.153556	T	0.29321	0.0730	N	0.14661	0.345	0.24214	N	0.995462	B	0.15719	0.014	B	0.09377	0.004	T	0.12116	-1.0560	10	0.32370	T	0.25	-8.5918	6.0177	0.19613	0.0:0.6828:0.0:0.3172	.	159	Q8WZA9	IRGQ_HUMAN	K	159	ENSP00000387535:E159K	ENSP00000387535:E159K	E	-	1	0	IRGQ	48790856	0.894000	0.30519	0.769000	0.31535	0.560000	0.35617	1.276000	0.33156	0.694000	0.31654	0.650000	0.86243	GAG		0.667	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		13	24	0	0	0	1	0	13	24				
DNAH8	1769	broad.mit.edu	37	6	38919111	38919111	+	Missense_Mutation	SNP	G	G	A	rs374402427		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:38919111G>A	ENST00000359357.3	+	80	11869	c.11615G>A	c.(11614-11616)cGt>cAt	p.R3872H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3872					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCAGACCGTACTGTTTTT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		21956	0.001		0.0	False		,,,				2504	0.0					ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11614-11616)cGt>cAt		dynein, axonemal, heavy chain 8		G	HIS/ARG	0,4406		0,0,2203	102.0	109.0	107.0		12266	5.6	1.0	6		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH8	NM_001206927.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4089/4708	38919111	1,13005	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38919111G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11615G>A	6.37:g.38919111G>A	ENSP00000352312:p.Arg3872His					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H	p.R3872H							80	11869	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11615G>A		.	.	.	.	.	.	.	.	.	.	G	23.7	4.441589	0.83993	0.0	1.16E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16457	2.34;2.34;2.34	5.6	5.6	0.85130	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	H	0.94503	3.545	0.58432	D	0.999997	D;D	0.65815	0.994;0.995	P;P	0.58577	0.754;0.841	T	0.55256	-0.8169	10	0.72032	D	0.01	.	14.7637	0.69623	0.0:0.0:0.8555:0.1445	.	3836;3872	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	4077;4077;3872;3836	ENSP00000333363:R4077H;ENSP00000352312:R3872H;ENSP00000402294:R3836H	ENSP00000333363:R4077H	R	+	2	0	DNAH8	39027089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.157000	0.58144	2.791000	0.96007	0.655000	0.94253	CGT		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		16	144	0	0	0	1	0	16	144				
MRPL17	63875	broad.mit.edu	37	11	6704001	6704001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:6704001G>A	ENST00000288937.6	-	2	324	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	74					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGCCATGCGCATGGCTCGT	0.527																																						ENST00000288937.6																			0				lung(4)	4						c.(220-222)Cgc>Tgc		mitochondrial ribosomal protein L17							107.0	97.0	100.0					11																	6704001		2201	4296	6497	SO:0001583	missense	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704001G>A	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.220C>T	11.37:g.6704001G>A	ENSP00000288937:p.Arg74Cys						p.R74C	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	2	324	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	74					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	ENST00000288937.6	37	c.220C>T	CCDS31412.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458135	0.84317	.	.	ENSG00000158042	ENST00000288937	.	.	.	5.81	3.96	0.45880	.	0.062467	0.64402	D	0.000005	D	0.85673	0.5751	H	0.97465	4.01	0.58432	D	0.999996	D	0.71674	0.998	D	0.67231	0.95	D	0.86902	0.2055	9	0.87932	D	0	-8.9562	8.884	0.35392	0.1685:0.0:0.8315:0.0	.	74	Q9NRX2	RM17_HUMAN	C	74	.	ENSP00000288937:R74C	R	-	1	0	MRPL17	6660577	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.373000	0.66162	0.845000	0.35118	-0.149000	0.13747	CGC		0.527	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		3	32	0	0	0	1	0	3	32				
SCN3A	6328	broad.mit.edu	37	2	165947702	165947702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:165947702G>A	ENST00000360093.3	-	28	5452	c.4961C>T	c.(4960-4962)gCg>gTg	p.A1654V	SCN3A_ENST00000283254.7_Missense_Mutation_p.A1654V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1605V|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_Missense_Mutation_p.A137V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1654					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTAAACAACGCAGGAAGGGA	0.483																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4960-4962)gCg>gTg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						129.0	126.0	127.0					2																	165947702		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947702G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4961C>T	2.37:g.165947702G>A	ENSP00000353206:p.Ala1654Val					SCN3A_ENST00000540861.1_Missense_Mutation_p.A137V|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1654V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1605V	p.A1654V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5452	-			1654					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4961C>T		.	.	.	.	.	.	.	.	.	.	G	19.56	3.850781	0.71719	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000010	D	0.99557	0.9841	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.977	D	0.97960	1.0337	10	0.87932	D	0	.	20.1905	0.98229	0.0:0.0:1.0:0.0	.	1605;1605;1654	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1654;1654;1605;137	ENSP00000353206:A1654V;ENSP00000283254:A1654V;ENSP00000386726:A1605V;ENSP00000439920:A137V	ENSP00000283254:A1654V	A	-	2	0	SCN3A	165655948	1.000000	0.71417	0.840000	0.33206	0.642000	0.38348	9.856000	0.99531	2.775000	0.95449	0.567000	0.79289	GCG		0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	163	0	0	0	1	0	7	163				
COL26A1	136227	broad.mit.edu	37	7	101063333	101063333	+	RNA	SNP	C	C	T	rs376211020		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:101063333C>T	ENST00000397927.3	+	0	447				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											TGGTCCAGCGCGTGTACCAGA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14947	0.0		0.0	False		,,,				2504	0.0					ENST00000313669.7																			0													collagen, type XXVI, alpha 1		C		1,4113		0,1,2056	26.0	38.0	34.0		234	-5.7	1.0	7		34	2,8374		0,2,4186	no	coding-synonymous	EMID2	NM_133457.2		0,3,6242	TT,TC,CC		0.0239,0.0243,0.024		78/440	101063333	3,12487	2057	4188	6245			136227							g.chr7:101063333C>T	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063333C>T						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	426	+								Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.642	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		6	31	0	0	0	1	0	6	31				
ZZEF1	23140	broad.mit.edu	37	17	3961447	3961447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:3961447G>A	ENST00000381638.2	-	32	5130	c.5006C>T	c.(5005-5007)tCc>tTc	p.S1669F	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1669							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGAGCAAGGACCTAAAGGG	0.468																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(5005-5007)tCc>tTc		zinc finger, ZZ-type with EF-hand domain 1							52.0	46.0	48.0					17																	3961447		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3961447G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5006C>T	17.37:g.3961447G>A	ENSP00000371051:p.Ser1669Phe						p.S1669F	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			32	5130	-			1669					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5006C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936878	0.73557	.	.	ENSG00000074755	ENST00000381638	T	0.24908	1.83	5.02	4.01	0.46588	.	0.272598	0.37393	N	0.002114	T	0.45637	0.1352	L	0.57536	1.79	0.49915	D	0.999836	D;D	0.71674	0.998;0.993	D;P	0.67548	0.952;0.753	T	0.48670	-0.9015	10	0.87932	D	0	-12.4897	15.4148	0.74956	0.0:0.139:0.861:0.0	.	1669;1669	O43149-2;O43149	.;ZZEF1_HUMAN	F	1669	ENSP00000371051:S1669F	ENSP00000371051:S1669F	S	-	2	0	ZZEF1	3908196	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.013000	0.64023	2.348000	0.79779	0.655000	0.94253	TCC		0.468	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	34	0	0	0	1	0	3	34				
ACADVL	37	broad.mit.edu	37	17	7127027	7127027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:7127027C>T	ENST00000356839.5	+	12	1426	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V|MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	416	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ATAGAGGCCGCCATCAGCAAA	0.532																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(1246-1248)gCc>gTc		acyl-CoA dehydrogenase, very long chain							93.0	93.0	93.0					17																	7127027		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7127027C>T	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1247C>T	17.37:g.7127027C>T	ENSP00000349297:p.Ala416Val					ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V|ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V	p.A416V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			12	1426	+			416			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.1247C>T	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287288	0.59867	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.96967	-4.19;-4.19	5.81	5.81	0.92471	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.051967	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99475	4.585	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.70716	0.97;0.97;0.921	D	0.98945	1.0792	10	0.87932	D	0	.	17.6175	0.88071	0.0:1.0:0.0:0.0	.	439;394;416	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	V	439;462;394;416;462	ENSP00000438689:A439V;ENSP00000344152:A394V	ENSP00000325395:A416V	A	+	2	0	ACADVL	7067751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.672000	0.74477	2.764000	0.94973	0.558000	0.71614	GCC		0.532	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		10	101	0	0	0	1	0	10	101				
PDLIM3	27295	broad.mit.edu	37	4	186425655	186425655	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:186425655G>A	ENST00000284770.5	-	7	952	c.879C>T	c.(877-879)ctC>ctT	p.L293L	PDLIM3_ENST00000284771.6_Silent_p.L245L|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	293	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ATTTGTCACAGAGCGGCATCC	0.502																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(877-879)ctC>ctT		PDZ and LIM domain 3							73.0	64.0	67.0					4																	186425655		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186425655G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.879C>T	4.37:g.186425655G>A						PDLIM3_ENST00000284771.6_Silent_p.L245L|PDLIM3_ENST00000284767.5_3'UTR	p.L293L	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	7	952	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	293			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.879C>T	CCDS3844.1																																																																																				0.502	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		5	33	0	0	0	1	0	5	33				
TPCN1	53373	broad.mit.edu	37	12	113704019	113704019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:113704019C>T	ENST00000335509.6	+	4	586	c.272C>T	c.(271-273)cCc>cTc	p.P91L	TPCN1_ENST00000550785.1_Missense_Mutation_p.P163L|TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	91					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCACCCACCCCAAGGATGCC	0.582																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(487-489)cCc>cTc		two pore segment channel 1							205.0	180.0	189.0					12																	113704019		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704019C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.272C>T	12.37:g.113704019C>T	ENSP00000335300:p.Pro91Leu					TPCN1_ENST00000335509.6_Missense_Mutation_p.P91L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L|TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L	p.P163L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	657	+			91					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.488C>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174768	0.94807	.	.	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000335509;ENST00000552897;ENST00000550785;ENST00000541517;ENST00000392569;ENST00000552542;ENST00000548465	T;D;D;D;D	0.97114	-1.23;-4.13;-4.25;-4.25;-4.19	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.98329	1.0532	10	0.38643	T	0.18	-38.3468	18.5345	0.91004	0.0:1.0:0.0:0.0	.	91;163;91	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	L	67;146;177;91;23;163;163;23;23;23	ENSP00000447569:P177L;ENSP00000335300:P91L;ENSP00000448083:P163L;ENSP00000438125:P163L;ENSP00000376350:P23L	ENSP00000335300:P91L	P	+	2	0	TPCN1	112188402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.369000	0.80426	0.561000	0.74099	CCC		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		24	202	0	0	0	1	0	24	202				
SLC7A1	6541	broad.mit.edu	37	13	30104749	30104749	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:30104749C>T	ENST00000380752.5	-	5	1016	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	210					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGATCCTTTCACAAATCCTG	0.443																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(628-630)gtG>gtA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						159.0	161.0	160.0					13																	30104749		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30104749C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.630G>A	13.37:g.30104749C>T							p.V210V	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	5	1016	-		Lung SC(185;0.0257)|Breast(139;0.238)	210					Q5JR50	Silent	SNP	ENST00000380752.5	37	c.630G>A	CCDS9333.1																																																																																				0.443	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		19	144	0	0	0	1	0	19	144				
OSGIN1	29948	broad.mit.edu	37	16	83999318	83999318	+	Silent	SNP	C	C	T	rs149907599	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:83999318C>T	ENST00000343939.2	+	7	1772	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	OSGIN1_ENST00000393306.1_Silent_p.L380L|OSGIN1_ENST00000361711.3_Silent_p.L380L|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCCAGGACCTCGAGGGTGTCG	0.642													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.0					ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1387-1389)ctC>ctT		oxidative stress induced growth inhibitor 1		C	,,	21,4379	28.1+/-56.4	0,21,2179	120.0	107.0	111.0		1389,1140,1140	-5.1	0.0	16	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	OSGIN1	NM_013370.3,NM_182980.2,NM_182981.2	,,	0,21,6479	TT,TC,CC		0.0,0.4773,0.1615	,,	463/561,380/478,380/478	83999318	21,12979	2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999318C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1389C>T	16.37:g.83999318C>T						OSGIN1_ENST00000393306.1_Silent_p.L380L|OSGIN1_ENST00000361711.3_Silent_p.L380L	p.L463L			Q9UJX0	OSGI1_HUMAN			7	1772	+			463					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.1389C>T																																																																																					0.642	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	52	0	0	0	1	0	4	52				
RHOD	29984	broad.mit.edu	37	11	66838947	66838947	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66838947C>T	ENST00000308831.2	+	5	592	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHOD_ENST00000532559.1_Silent_p.L103L	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	169					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGGCCTACCTCGAGTGCTCGG	0.687																																						ENST00000308831.2																			0				lung(3)	3						c.(505-507)ctC>ctT		ras homolog family member D							35.0	33.0	34.0					11																	66838947		2199	4291	6490	SO:0001819	synonymous_variant	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66838947C>T	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.507C>T	11.37:g.66838947C>T						RHOD_ENST00000532559.1_Silent_p.L103L	p.L169L	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			5	592	+			169						Silent	SNP	ENST00000308831.2	37	c.507C>T	CCDS8155.1																																																																																				0.687	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		4	26	0	0	0	1	0	4	26				
MRPL37	51253	broad.mit.edu	37	1	54681872	54681872	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:54681872G>A	ENST00000360840.5	+	6	1126	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	MRPL37_ENST00000605337.1_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	350					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACGGATGGACGTGTCTTCCAT	0.517																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(1048-1050)cGt>cAt		mitochondrial ribosomal protein L37							184.0	158.0	167.0					1																	54681872		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681872G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1049G>A	1.37:g.54681872G>A	ENSP00000354086:p.Arg350His					MRPL37_ENST00000360840.5_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H	p.R350H			Q9BZE1	RM37_HUMAN			6	1097	+			350					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.1049G>A	CCDS589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.62|17.62	3.434521|3.434521	0.62955|0.62955	.|.	.|.	ENSG00000116221|ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230|ENST00000398219	T;T|.	0.18960|.	2.18;2.18|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.104660|.	0.64402|.	D|.	0.000003|.	T|T	0.61714|0.61714	0.2369|0.2369	M|M	0.63428|0.63428	1.95|1.95	0.53688|0.53688	D|D	0.999977|0.999977	P;D;D|.	0.89917|.	0.75;0.972;1.0|.	B;B;D|.	0.74674|.	0.212;0.404;0.984|.	T|T	0.62096|0.62096	-0.6926|-0.6926	10|5	0.54805|.	T|.	0.06|.	-11.0091|-11.0091	7.0117|7.0117	0.24865|0.24865	0.2113:0.0:0.7887:0.0|0.2113:0.0:0.7887:0.0	.|.	219;287;350|.	A6NHR2;E9PB99;Q9BZE1|.	.;.;RM37_HUMAN|.	H|M	350;287;219|135	ENSP00000354086:R350H;ENSP00000338526:R219H|.	ENSP00000328799:R287H|.	R|V	+|+	2|1	0|0	MRPL37|MRPL37	54454460|54454460	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.482000|0.482000	0.33219|0.33219	4.579000|4.579000	0.60936|0.60936	2.504000|2.504000	0.84457|0.84457	0.455000|0.455000	0.32223|0.32223	CGT|GTG		0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		11	96	0	0	0	1	0	11	96				
TNNT2	7139	broad.mit.edu	37	1	201333480	201333480	+	Silent	SNP	G	G	T	rs375675827		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:201333480G>T	ENST00000509001.1	-	10	691	c.405C>A	c.(403-405)gcC>gcA	p.A135A	TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000360372.4_Silent_p.A130A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642																																						ENST00000509001.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(403-405)gcC>gcA		troponin T type 2 (cardiac)							44.0	39.0	40.0					1																	201333480		2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333480G>T	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.405C>A	1.37:g.201333480G>T						TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000236918.7_Silent_p.A140A	p.A135A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN			10	691	-			145					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.405C>A	CCDS30969.1																																																																																				0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		4	27	1	0	0.014758	1	0.0149293	4	27				
SCAP	22937	broad.mit.edu	37	3	47462227	47462227	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:47462227G>T	ENST00000265565.5	-	12	1792	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A	SCAP_ENST00000441517.2_Silent_p.A205A|SCAP_ENST00000545718.1_Silent_p.A68A|SCAP_ENST00000465628.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	460					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGCAGGCAGGCCTCAGGGG	0.657											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1378-1380)gcC>gcA		SREBF chaperone							48.0	50.0	49.0					3																	47462227		2203	4299	6502	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47462227G>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1380C>A	3.37:g.47462227G>T			OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	SCAP_ENST00000545718.1_Silent_p.A68A|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A205A	p.A460A	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	12	1792	-			460					Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.1380C>A	CCDS2755.2																																																																																				0.657	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		4	36	1	0	0.000602214	1	0.000622628	4	36				
DENND2A	27147	broad.mit.edu	37	7	140301642	140301642	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:140301642A>G	ENST00000275884.6	-	2	973	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	186					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGTGGGGAGTAACAAGTCCCT	0.607																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(556-558)Tac>Cac		DENN/MADD domain containing 2A							43.0	45.0	44.0					7																	140301642		1975	4147	6122	SO:0001583	missense	27147							g.chr7:140301642A>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.556T>C	7.37:g.140301642A>G	ENSP00000275884:p.Tyr186His					DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H	p.Y186H			Q9ULE3	DEN2A_HUMAN			2	973	-	Melanoma(164;0.00956)		186					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.556T>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871799	0.51695	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.26660	2.56;2.56;2.56;1.72	5.0	5.0	0.66597	.	0.138507	0.51477	D	0.000096	T	0.47340	0.1440	L	0.57536	1.79	0.42926	D	0.994309	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.49872	-0.8893	10	0.87932	D	0	-16.4387	14.8641	0.70401	1.0:0.0:0.0:0.0	.	186;186	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	H	186	ENSP00000275884:Y186H;ENSP00000442245:Y186H;ENSP00000419654:Y186H;ENSP00000419464:Y186H	ENSP00000275884:Y186H	Y	-	1	0	DENND2A	139948111	1.000000	0.71417	0.259000	0.24435	0.088000	0.18126	7.171000	0.77595	2.102000	0.63906	0.459000	0.35465	TAC		0.607	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		12	75	0	0	0	1	0	12	75				
ARHGEF4	50649	broad.mit.edu	37	2	131803638	131803638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:131803638G>A	ENST00000326016.5	+	14	2468	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	650					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TACCTGACGCGCCAGAAGCAC	0.667																																						ENST00000326016.5																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(1948-1950)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 4							53.0	64.0	61.0					2																	131803638		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131803638G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1949G>A	2.37:g.131803638G>A	ENSP00000316845:p.Arg650His					ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H	p.R650H	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	14	2468	+		Prostate(154;0.055)	650					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.1949G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215228	0.39102	.	.	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.71	4.83	0.62350	.	0.064338	0.64402	D	0.000006	T	0.19685	0.0473	N	0.16790	0.44	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.12837	0.008;0.008	T	0.07501	-1.0769	10	0.13470	T	0.59	.	8.7922	0.34857	0.1698:0.0:0.8302:0.0	.	590;650	E9PEM0;Q9NR80	.;ARHG4_HUMAN	H	650;332;152;590;579	ENSP00000316845:R650H;ENSP00000389661:R332H;ENSP00000398455:R152H;ENSP00000387285:R590H;ENSP00000348017:R579H	ENSP00000316845:R650H	R	+	2	0	ARHGEF4	131520108	0.882000	0.30256	0.977000	0.42913	0.951000	0.60555	1.671000	0.37513	1.420000	0.47138	0.462000	0.41574	CGC		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			11	94	0	0	0	1	0	11	94				
NPSR1	387129	broad.mit.edu	37	7	34724286	34724286	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:34724286G>A	ENST00000360581.1	+	2	398	c.270G>A	c.(268-270)ctG>ctA	p.L90L	NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L|NPSR1_ENST00000381553.3_Silent_p.L90L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	90						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACTCAGCTGGCCATCACAG	0.393																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(268-270)ctG>ctA		neuropeptide S receptor 1	Halothane(DB01159)						110.0	104.0	106.0					7																	34724286		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724286G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.270G>A	7.37:g.34724286G>A						NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381553.3_Silent_p.L90L|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L	p.L90L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			2	398	+			90					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.270G>A	CCDS5444.1																																																																																				0.393	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		6	69	0	0	0	1	0	6	69				
HLA-C	3107	broad.mit.edu	37	6	31238116	31238116	+	Nonsense_Mutation	SNP	C	C	A	rs281860566		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:31238116C>A	ENST00000376228.5	-	4	780	c.766G>T	c.(766-768)Gag>Tag	p.E256*	HLA-C_ENST00000383329.3_Nonsense_Mutation_p.E256*	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	256	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCTGGTCTCCACAAGCTCG	0.627																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(766-768)Gag>Tag		major histocompatibility complex, class I, C							54.0	45.0	48.0					6																	31238116		2203	4300	6503	SO:0001587	stop_gained	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238116C>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.766G>T	6.37:g.31238116C>A	ENSP00000365402:p.Glu256*					HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E256*	p.E256*			Q9TNN7	1C05_HUMAN			4	780	-			256			Alpha-3.|Ig-like C1-type.		O02864|O02958|Q29643|Q9MY30	Nonsense_Mutation	SNP	ENST00000376228.5	37	c.766G>T	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.124147	0.37533	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.	.	.	2.67	1.78	0.24846	.	0.231155	0.21097	U	0.080233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5453	0.17061	0.0:0.8394:0.0:0.1606	.	.	.	.	X	256;256;256;293	.	ENSP00000365402:E256X	E	-	1	0	HLA-C	31346095	0.001000	0.12720	0.998000	0.56505	0.054000	0.15201	0.193000	0.17116	0.699000	0.31761	0.298000	0.19748	GAG		0.627	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		7	89	1	0	0.00198382	1	0.00203383	7	89				
DIDO1	11083	broad.mit.edu	37	20	61511065	61511065	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:61511065C>G	ENST00000266070.4	-	16	6568	c.6243G>C	c.(6241-6243)caG>caC	p.Q2081H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2081					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCGAAAGTCTGGTTTCTGT	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6241-6243)caG>caC		death inducer-obliterator 1							112.0	125.0	121.0					20																	61511065		2165	4247	6412	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511065C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6243G>C	20.37:g.61511065C>G	ENSP00000266070:p.Gln2081His					DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H	p.Q2081H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6568	-	Breast(26;5.68e-08)		2081					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6243G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626218	0.28978	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12039	2.72;2.72	5.47	2.38	0.29361	.	0.178145	0.26824	N	0.022304	T	0.17916	0.0430	L	0.50333	1.59	0.09310	N	0.999995	D	0.69078	0.997	P	0.55667	0.781	T	0.09530	-1.0670	10	0.42905	T	0.14	-17.1141	3.0304	0.06104	0.1462:0.5586:0.1414:0.1539	.	2081	Q9BTC0	DIDO1_HUMAN	H	2081	ENSP00000266070:Q2081H;ENSP00000378752:Q2081H	ENSP00000266070:Q2081H	Q	-	3	2	DIDO1	60981510	0.007000	0.16637	0.000000	0.03702	0.007000	0.05969	0.261000	0.18442	0.228000	0.21019	0.655000	0.94253	CAG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		22	224	0	0	0	1	0	22	224				
MTNR1B	4544	broad.mit.edu	37	11	92715107	92715107	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92715107C>T	ENST00000257068.2	+	2	724	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	240					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGAGAGCAGGCTGTGCCTGAA	0.577																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(718-720)Ctg>Ttg		melatonin receptor 1B	Ramelteon(DB00980)						91.0	76.0	81.0					11																	92715107		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715107C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.718C>T	11.37:g.92715107C>T							p.L240L	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	724	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	240						Silent	SNP	ENST00000257068.2	37	c.718C>T	CCDS8290.1																																																																																				0.577	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			10	71	0	0	0	1	0	10	71				
RDH16	8608	broad.mit.edu	37	12	57348692	57348692	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57348692G>A	ENST00000398138.3	-	2	1426	c.570C>T	c.(568-570)ctC>ctT	p.L190L	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	190					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.L190L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						ACCCATACCTGAGGGAGTCAG	0.567																																					GBM(179;741 2921 43105 45298)	ENST00000398138.3																			1	Substitution - coding silent(1)	p.L190L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(568-570)ctC>ctT		retinol dehydrogenase 16 (all-trans)							49.0	56.0	54.0					12																	57348692		2033	4210	6243	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57348692G>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.570C>T	12.37:g.57348692G>A						RDH16_ENST00000360752.4_Intron	p.L190L	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN			2	1426	-			190					Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.570C>T	CCDS41797.1																																																																																				0.567	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		6	53	0	0	0	1	0	6	53				
STXBP5L	9515	broad.mit.edu	37	3	120977960	120977960	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:120977960G>C	ENST00000273666.6	+	18	2174	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	635					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGTGGGTAGATGGTGAACC	0.348																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1903-1905)Gat>Cat		syntaxin binding protein 5-like							111.0	112.0	112.0					3																	120977960		1891	4113	6004	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120977960G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1903G>C	3.37:g.120977960G>C	ENSP00000273666:p.Asp635His					STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H	p.D635H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	18	2174	+			635					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1903G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309228	0.60414	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.64438	1.8;-0.1;-0.1;1.11;-0.1;1.82	5.22	5.22	0.72569	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73167	-0.4068	10	0.38643	T	0.18	-21.2276	19.1733	0.93590	0.0:0.0:1.0:0.0	.	635;635	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	635	ENSP00000273666:D635H;ENSP00000420019:D635H;ENSP00000419627:D635H;ENSP00000420287:D635H;ENSP00000420666:D635H;ENSP00000420167:D635H	ENSP00000273666:D635H	D	+	1	0	STXBP5L	122460650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.337000	0.79256	2.591000	0.87537	0.650000	0.86243	GAT		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			4	58	0	0	0	1	0	4	58				
USP9X	8239	broad.mit.edu	37	X	41075704	41075704	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:41075704G>C	ENST00000324545.8	+	35	6517	c.5884G>C	c.(5884-5886)Gat>Cat	p.D1962H	USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1962					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AATAGACCAAGATGATGAGTT	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5884-5886)Gat>Cat		ubiquitin specific peptidase 9, X-linked							140.0	129.0	132.0					X																	41075704		2156	4271	6427	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075704G>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5884G>C	X.37:g.41075704G>C	ENSP00000316357:p.Asp1962His					USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H	p.D1962H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6517	+			1962					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5884G>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439322	0.43326	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03181	4.02;4.02	5.76	4.9	0.64082	.	0.085474	0.85682	D	0.000000	T	0.07413	0.0187	L	0.57536	1.79	0.53688	D	0.999978	B;B	0.33448	0.25;0.412	B;B	0.37692	0.256;0.09	T	0.09271	-1.0682	10	0.54805	T	0.06	.	14.0786	0.64905	0.0742:0.0:0.9258:0.0	.	1962;1962	Q93008-1;Q93008	.;USP9X_HUMAN	H	1962	ENSP00000367558:D1962H;ENSP00000316357:D1962H	ENSP00000316357:D1962H	D	+	1	0	USP9X	40960648	1.000000	0.71417	0.689000	0.30133	0.967000	0.64934	7.649000	0.83500	1.185000	0.42971	0.513000	0.50165	GAT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	146	0	0	0	1	0	14	146				
SYNE1	23345	broad.mit.edu	37	6	152776698	152776698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:152776698T>C	ENST00000367255.5	-	24	3356	c.2755A>G	c.(2755-2757)Aag>Gag	p.K919E	SYNE1_ENST00000367253.4_Missense_Mutation_p.K919E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926E|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909E|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486E|SYNE1_ENST00000413186.2_Missense_Mutation_p.K919E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	919					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATGCTTCTTCCAATCTCCA	0.428										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2755-2757)Aag>Gag		spectrin repeat containing, nuclear envelope 1							112.0	111.0	111.0					6																	152776698		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152776698T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2755A>G	6.37:g.152776698T>C	ENSP00000356224:p.Lys919Glu	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.K919E|SYNE1_ENST00000367253.4_Missense_Mutation_p.K919E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926E|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985E|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926E	p.K919E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	24	3356	-		Ovarian(120;0.0955)	919					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2755A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.96	2.093676	0.36952	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.48	5.48	0.80851	.	0.096969	0.44285	D	0.000477	T	0.15825	0.0381	L	0.43152	1.355	0.80722	D	1	P;B;P;P;P;B;P	0.48764	0.835;0.393;0.835;0.731;0.915;0.393;0.731	B;B;B;B;B;B;B	0.42593	0.116;0.08;0.228;0.167;0.392;0.08;0.167	T	0.06023	-1.0850	10	0.05721	T	0.95	.	15.5657	0.76290	0.0:0.0:0.0:1.0	.	902;919;486;909;919;919;926	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	E	919;926;919;926;985;919;909;919;486	ENSP00000356224:K919E;ENSP00000396024:K926E;ENSP00000265368:K919E;ENSP00000390975:K926E;ENSP00000341887:K985E;ENSP00000356222:K919E;ENSP00000356217:K909E;ENSP00000414510:K919E;ENSP00000438508:K486E	ENSP00000265368:K919E	K	-	1	0	SYNE1	152818391	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.905000	0.56333	2.069000	0.61940	0.533000	0.62120	AAG		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	104	0	0	0	1	0	8	104				
ESYT2	57488	broad.mit.edu	37	7	158557391	158557391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:158557391G>C	ENST00000251527.5	-	9	1287	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCCACTTTGGACTGAGGTTC	0.512																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1222-1224)Cca>Gca		extended synaptotagmin-like protein 2							159.0	152.0	154.0					7																	158557391		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158557391G>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1222C>G	7.37:g.158557391G>C	ENSP00000251527:p.Pro408Ala						p.P408A	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			9	1287	-			436			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.1222C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092129	0.94149	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	D;D	0.91124	-2.79;-2.79	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98512	1.0619	10	0.87932	D	0	-20.5039	19.0512	0.93046	0.0:0.0:1.0:0.0	.	436;408	A0FGR8-6;A0FGR8-2	.;.	A	408;436;378;232	ENSP00000251527:P408A;ENSP00000275418:P378A	ENSP00000251527:P408A	P	-	1	0	ESYT2	158250152	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.654000	0.98509	2.735000	0.93741	0.655000	0.94253	CCA		0.512	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		13	132	0	0	0	1	0	13	132				
MAPKAPK2	9261	broad.mit.edu	37	1	206858718	206858718	+	Silent	SNP	C	C	G	rs150764573		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:206858718C>G	ENST00000367103.3	+	1	337	c.144C>G	c.(142-144)gtC>gtG	p.V48V	MAPKAPK2_ENST00000294981.4_Silent_p.V48V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	48					3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTTCCACGTCAAGTCCGGCC	0.697																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(142-144)gtC>gtG		mitogen-activated protein kinase-activated protein kinase 2		C	,	0,4406		0,0,2203	31.0	30.0	31.0		144,144	3.4	1.0	1	dbSNP_134	31	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MAPKAPK2	NM_004759.4,NM_032960.3	,	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	,	48/371,48/401	206858718	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206858718C>G	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.144C>G	1.37:g.206858718C>G						MAPKAPK2_ENST00000294981.4_Silent_p.V48V	p.V48V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	337	+	Breast(84;0.183)		48					Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.144C>G	CCDS31001.1																																																																																				0.697	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		3	22	0	0	0	1	0	3	22				
MFN1	55669	broad.mit.edu	37	3	179096140	179096140	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:179096140G>A	ENST00000471841.1	+	13	1467	c.1341G>A	c.(1339-1341)aaG>aaA	p.K447K	MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Silent_p.K447K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	447					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AATTAAATAAGCACATAGAGG	0.318																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(1339-1341)aaG>aaA		mitofusin 1							98.0	100.0	99.0					3																	179096140		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179096140G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1341G>A	3.37:g.179096140G>A						MFN1_ENST00000263969.5_Silent_p.K447K|MFN1_ENST00000280653.7_Intron	p.K447K	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		13	1467	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		447					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1341G>A	CCDS3228.1																																																																																				0.318	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		6	59	0	0	0	1	0	6	59				
GPR37	2861	broad.mit.edu	37	7	124386639	124386639	+	Silent	SNP	C	C	T	rs374455144	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:124386639C>T	ENST00000303921.2	-	2	2432	c.1782G>A	c.(1780-1782)tcG>tcA	p.S594S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	594					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACTGAAAGGCGAGAGTTCGA	0.463													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17433	0.002		0.0	False		,,,				2504	0.0					ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1780-1782)tcG>tcA		G protein-coupled receptor 37 (endothelin receptor type B-like)		C		0,4406		0,0,2203	185.0	160.0	169.0		1782	-10.7	0.5	7		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR37	NM_005302.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		594/614	124386639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386639C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1782G>A	7.37:g.124386639C>T							p.S594S	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2432	-			594					A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.1782G>A	CCDS5792.1																																																																																				0.463	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		16	121	0	0	0	1	0	16	121				
WDR54	84058	broad.mit.edu	37	2	74653396	74653396	+	IGR	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74653396G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Missense_Mutation_p.R543C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCCAAGTGCGAGGTTGGCCT	0.622																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1627-1629)Cgc>Tgc		rhotekin							104.0	115.0	111.0					2																	74653396		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653396G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653396G>A						RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C	p.R543C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2212	-			556			Pro-rich.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1627C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331742	0.41297	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.36699	1.24;1.24;1.25	5.0	1.07	0.20283	.	0.270137	0.34700	N	0.003760	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	D;P	0.55385	0.971;0.941	B;B	0.43052	0.23;0.406	T	0.13845	-1.0494	10	0.62326	D	0.03	.	7.9225	0.29854	0.0:0.2904:0.4103:0.2994	.	556;543	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	C	543;556;506	ENSP00000305298:R543C;ENSP00000272430:R556C;ENSP00000233330:R506C	ENSP00000233330:R506C	R	-	1	0	RTKN	74506904	0.753000	0.28349	0.000000	0.03702	0.841000	0.47740	0.493000	0.22451	0.086000	0.17137	0.655000	0.94253	CGC		0.622	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		13	176	0	0	0	1	0	13	176				
ZMYM3	9203	broad.mit.edu	37	X	70472945	70472945	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:70472945G>A	ENST00000353904.2	-	2	348	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMYM3_ENST00000373998.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	54					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)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGGCTCCCGAGGATGGAGA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(160-162)tCg>tTg		zinc finger, MYM-type 3							11.0	13.0	13.0					X																	70472945		2185	4263	6448	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472945G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.161C>T	X.37:g.70472945G>A	ENSP00000343909:p.Ser54Leu		OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S54L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L	p.S54L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			2	858	-	Renal(35;0.156)		54					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.161C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	13.50	2.256668	0.39896	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	4.88	4.88	0.63580	.	0.523110	0.15716	N	0.248137	T	0.17704	0.0425	N	0.14661	0.345	0.29149	N	0.8785	P;B;B	0.39404	0.672;0.0;0.0	B;B;B	0.27887	0.084;0.0;0.0	T	0.09100	-1.0690	10	0.62326	D	0.03	-2.2756	7.8922	0.29684	0.123:0.0:0.877:0.0	.	54;54;54	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	L	54	ENSP00000322845:S54L;ENSP00000363110:S54L;ENSP00000343909:S54L;ENSP00000363096:S54L;ENSP00000363100:S54L;ENSP00000363094:S54L;ENSP00000363093:S54L;ENSP00000363090:S54L	ENSP00000322845:S54L	S	-	2	0	ZMYM3	70389670	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.613000	0.67688	2.016000	0.59253	0.287000	0.19450	TCG		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	24	0	0	0	1	0	4	24				
EEFSEC	60678	broad.mit.edu	37	3	128060436	128060436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:128060436G>T	ENST00000254730.6	+	5	1201	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	383					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532																																						ENST00000254730.6																			0				NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(1147-1149)Gat>Tat		eukaryotic elongation factor, selenocysteine-tRNA-specific							41.0	44.0	43.0					3																	128060436		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060436G>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1147G>T	3.37:g.128060436G>T	ENSP00000254730:p.Asp383Tyr					EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y|EEFSEC_ENST00000483569.1_3'UTR	p.D383Y	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			5	1201	+			383					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1147G>T	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451939	0.43531	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.56776	0.87;0.44	5.44	5.44	0.79542	.	0.216664	0.39341	N	0.001385	T	0.57388	0.2050	L	0.58101	1.795	0.47949	D	0.999556	P;B	0.48162	0.906;0.306	P;B	0.44732	0.459;0.195	T	0.63319	-0.6664	10	0.72032	D	0.01	-13.7434	19.2452	0.93899	0.0:0.0:1.0:0.0	.	328;383	C9J8T0;P57772	.;SELB_HUMAN	Y	383;328	ENSP00000254730:D383Y;ENSP00000417660:D328Y	ENSP00000254730:D383Y	D	+	1	0	EEFSEC	129543126	1.000000	0.71417	0.110000	0.21437	0.124000	0.20399	5.597000	0.67577	2.536000	0.85505	0.591000	0.81541	GAT		0.532	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		4	53	1	0	0.000602214	1	0.000622628	4	53				
ZNF217	7764	broad.mit.edu	37	20	52188284	52188284	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:52188284C>G	ENST00000371471.2	-	5	3571	c.3146G>C	c.(3145-3147)tGa>tCa	p.*1049S	ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	0					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTAGTGAATCAAGTTTTTTT	0.413																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(3145-3147)tGa>tCa		zinc finger protein 217							172.0	159.0	164.0					20																	52188284		2202	4298	6500	SO:0001578	stop_lost	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52188284C>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.3146G>C	20.37:g.52188284C>G						ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S|RP4-724E16.2_ENST00000424252.1_RNA	p.*1049S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		5	3571	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		0					E1P5Y6|Q14DB8	Nonstop_Mutation	SNP	ENST00000371471.2	37	c.3146G>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	7.191	0.591575	0.13812	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5358	0.87830	0.0:1.0:0.0:0.0	.	.	.	.	S	1049	.	.	X	-	2	2	ZNF217	51621691	1.000000	0.71417	0.996000	0.52242	0.104000	0.19210	2.123000	0.41996	2.653000	0.90120	0.563000	0.77884	TGA		0.413	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		7	62	0	0	0	1	0	7	62				
ZSCAN2	54993	broad.mit.edu	37	15	85149785	85149785	+	Intron	SNP	G	G	A	rs375389760		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:85149785G>A	ENST00000448803.2	+	2	698				ZSCAN2_ENST00000334141.3_Silent_p.P144P|ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000379358.3_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTTCCCTTCCGGTGGAGGTGA	0.438																																						ENST00000334141.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(430-432)ccG>ccA		zinc finger and SCAN domain containing 2		G	,,	2,4404	4.2+/-10.8	0,2,2201	110.0	108.0	109.0		,432,	-1.3	0.0	15		109	0,8598		0,0,4299	no	intron,coding-synonymous,intron	ZSCAN2	NM_001007072.1,NM_017894.5,NM_181877.3	,,	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,,	,144/151,	85149785	2,13002	2203	4299	6502	SO:0001627	intron_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85149785G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.406+2221G>A	15.37:g.85149785G>A						ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000379358.3_Intron|ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000448803.2_Intron	p.P144P	NM_017894.5	NP_060364.4	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	658	+			0					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.432G>A	CCDS10329.2																																																																																				0.438	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		6	61	0	0	0	1	0	6	61				
TOP3A	7156	broad.mit.edu	37	17	18198093	18198093	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:18198093C>G	ENST00000321105.5	-	10	1211	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E238Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	333					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						GCCAGCTTCTCAAGCTCCTGT	0.448																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(997-999)Gag>Cag		topoisomerase (DNA) III alpha							96.0	86.0	89.0					17																	18198093		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.chr17:18198093C>G	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.997G>C	17.37:g.18198093C>G	ENSP00000321636:p.Glu333Gln					TOP3A_ENST00000542570.1_Missense_Mutation_p.E238Q|TOP3A_ENST00000540524.1_5'UTR	p.E333Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			10	1211	-			333					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.997G>C	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.063178|3.063178	0.55432|0.55432	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.16457|.	2.34;2.34|.	5.25|5.25	5.25|5.25	0.73442|0.73442	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.58637|.	0.2136|.	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.91635|.	0.98;0.999|.	T|.	0.52830|.	-0.8523|.	10|.	0.46703|.	T|.	0.11|.	-35.2087|-35.2087	19.1963|19.1963	0.93690|0.93690	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;333|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	Q|S	333;238|312	ENSP00000321636:E333Q;ENSP00000442336:E238Q|.	ENSP00000321636:E333Q|.	E|X	-|-	1|2	0|2	TOP3A|TOP3A	18138818|18138818	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.987000|0.987000	0.75469|0.75469	7.692000|7.692000	0.84203|0.84203	2.610000|2.610000	0.88304|0.88304	0.591000|0.591000	0.81541|0.81541	GAG|TGA		0.448	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			4	38	0	0	0	1	0	4	38				
SQRDL	58472	broad.mit.edu	37	15	45981265	45981265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:45981265T>C	ENST00000260324.7	+	9	1531	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	382					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGTCCACTGGTGACCGGCTAC	0.393																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1144-1146)gTg>gCg		sulfide quinone reductase-like (yeast)							146.0	150.0	149.0					15																	45981265		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45981265T>C	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1145T>C	15.37:g.45981265T>C	ENSP00000260324:p.Val382Ala					SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A	p.V382A	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	9	1531	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	382					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.1145T>C	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	T	31	5.078367	0.94000	.	.	ENSG00000137767	ENST00000260324	T	0.40756	1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.85373	2.75	0.80722	D	1	P	0.47253	0.892	P	0.53006	0.715	T	0.68823	-0.5307	10	0.87932	D	0	.	15.0017	0.71476	0.0:0.0:0.0:1.0	.	382	Q9Y6N5	SQRD_HUMAN	A	382	ENSP00000260324:V382A	ENSP00000260324:V382A	V	+	2	0	SQRDL	43768557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.210000	0.71456	0.533000	0.62120	GTG		0.393	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			16	138	0	0	0	1	0	16	138				
ZNF721	170960	broad.mit.edu	37	4	419693	419693	+	IGR	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:419693G>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCTCCAGGTTGAAGGTCTGTT	0.438																																						ENST00000451020.2																			0																																																	SO:0001628	intergenic_variant	79963							g.chr4:419693G>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419693G>C								NR_002451.2						0	1345	-								Q69YG7	RNA	SNP	ENST00000506646.1	37																																																																																						0.438	ZNF721-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000357869.2	NM_133474		5	33	0	0	0	1	0	5	33				
LARP1B	55132	broad.mit.edu	37	4	129043274	129043274	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:129043274T>C	ENST00000326639.6	+	11	1666	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000427266.1_Silent_p.N485N|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000512292.1_Silent_p.N485N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	485						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGTTATCAATGATGGCTTAT	0.403																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(1453-1455)aaT>aaC		La ribonucleoprotein domain family, member 1B							107.0	100.0	102.0					4																	129043274		2203	4300	6503	SO:0001819	synonymous_variant	55132						RNA binding	g.chr4:129043274T>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1455T>C	4.37:g.129043274T>C						LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Silent_p.N485N|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000512292.1_Silent_p.N485N	p.N485N	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			11	1666	+			485					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Silent	SNP	ENST00000326639.6	37	c.1455T>C	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	T	6.372	0.436671	0.12104	.	.	ENSG00000138709	ENST00000507377	.	.	.	5.17	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.351	0.38138	0.0:0.2105:0.0:0.7895	.	.	.	.	R	454	.	.	X	+	1	0	LARP1B	129262724	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.866000	0.39489	0.438000	0.26450	0.528000	0.53228	TGA		0.403	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		18	117	0	0	0	1	0	18	117				
GLI3	2737	broad.mit.edu	37	7	42017296	42017296	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:42017296G>C	ENST00000395925.3	-	12	1757	c.1673C>G	c.(1672-1674)tCg>tGg	p.S558W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	558					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTAGTCTCGAGTAGGCCTT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1672-1674)tCg>tGg		GLI family zinc finger 3							222.0	187.0	199.0					7																	42017296		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017296G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1673C>G	7.37:g.42017296G>C	ENSP00000379258:p.Ser558Trp		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_ENST00000479210.1_5'UTR	p.S558W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			12	1757	-			558					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1673C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557415	0.86231	.	.	ENSG00000106571	ENST00000395925	T	0.44881	0.91	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70572	-0.4835	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	558	P10071	GLI3_HUMAN	W	558	ENSP00000379258:S558W	ENSP00000379258:S558W	S	-	2	0	GLI3	41983821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.745000	0.94114	0.655000	0.94253	TCG		0.458	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	84	0	0	0	1	0	8	84				
ATP7B	540	broad.mit.edu	37	13	52518381	52518381	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:52518381A>G	ENST00000242839.4	-	14	3263	c.3107T>C	c.(3106-3108)gTc>gCc	p.V1036A	ATP7B_ENST00000400366.3_Missense_Mutation_p.V925A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V606A|ATP7B_ENST00000418097.2_Missense_Mutation_p.V971A|ATP7B_ENST00000448424.2_Missense_Mutation_p.V958A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.V829A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1036					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GACCCTGGGGACGCCATGGGT	0.567									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(3106-3108)gTc>gCc		ATPase, Cu++ transporting, beta polypeptide							40.0	44.0	43.0					13																	52518381		2043	4194	6237	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52518381A>G	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3107T>C	13.37:g.52518381A>G	ENSP00000242839:p.Val1036Ala					ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V925A|ATP7B_ENST00000418097.2_Missense_Mutation_p.V971A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V829A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V958A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V606A	p.V1036A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	14	3263	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1036					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3107T>C	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612776	0.28712	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.43	4.23	0.50019	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.053474	0.85682	D	0.000000	D	0.93706	0.7989	N	0.16037	0.36	0.80722	D	1	D;B;B;B;B;B;B	0.54047	0.964;0.012;0.01;0.006;0.0;0.006;0.053	D;B;B;B;B;B;B	0.76575	0.988;0.198;0.018;0.018;0.004;0.018;0.299	D	0.90368	0.4378	10	0.13470	T	0.59	-29.5074	11.5333	0.50622	0.9283:0.0:0.0717:0.0	.	958;988;971;606;925;829;1036	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	A	1036;925;829;958;606;971	ENSP00000242839:V1036A;ENSP00000383217:V925A;ENSP00000342559:V829A;ENSP00000416738:V958A;ENSP00000383221:V606A;ENSP00000393343:V971A	ENSP00000242839:V1036A	V	-	2	0	ATP7B	51416382	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.620000	0.54203	2.078000	0.62432	0.459000	0.35465	GTC		0.567	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		6	43	0	0	0	1	0	6	43				
LRRC37A11P	342666	broad.mit.edu	37	17	37186555	37186555	+	RNA	SNP	C	C	T	rs9893920	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37186555C>T	ENST00000425901.2	+	0	397					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GAACCTTCTCCAGTCCAGCAA	0.587													C|||	940	0.1877	0.1589	0.1873	5008	,	,		18322	0.0655		0.2346	False		,,,				2504	0.3047					ENST00000425901.2																			0																																																			342666							g.chr17:37186555C>T			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186555C>T								NR_033753.2						0	397	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.587	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		4	42	0	0	0	1	0	4	42				
PCDH15	65217	broad.mit.edu	37	10	55566511	55566511	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:55566511G>A	ENST00000373965.2	-	36	5277	c.4883C>T	c.(4882-4884)gCg>gTg	p.A1628V	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTCACCGCTGTATTGTC	0.448										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4882-4884)gCg>gTg		protocadherin-related 15							305.0	268.0	279.0					10																	55566511		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566511G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4883C>T	10.37:g.55566511G>A	ENSP00000363076:p.Ala1628Val	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V	p.A1628V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5277	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4883C>T		.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805728	0.02819	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56444	0.46;0.51	6.02	3.15	0.36227	.	.	.	.	.	T	0.34861	0.0912	N	0.20685	0.6	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20371	-1.0277	9	0.35671	T	0.21	.	7.552	0.27802	0.2017:0.1214:0.6769:0.0	.	1619;1625	C6ZEF7;C9J4F3	.;.	V	1628;1625;1621	ENSP00000363076:A1628V;ENSP00000410304:A1625V	ENSP00000363076:A1628V	A	-	2	0	PCDH15	55236517	0.059000	0.20769	0.000000	0.03702	0.004000	0.04260	2.582000	0.46085	0.424000	0.26061	-0.137000	0.14449	GCG		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		18	255	0	0	0	1	0	18	255				
PRIMA1	145270	broad.mit.edu	37	14	94187823	94187823	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:94187823G>A	ENST00000393140.1	-	5	531	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PRIMA1_ENST00000393143.1_Silent_p.N143N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	143					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTACTCCTTTGTTGCTCTGCG	0.572																																						ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(427-429)aaC>aaT		proline rich membrane anchor 1							140.0	100.0	114.0					14																	94187823		2203	4300	6503	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187823G>A		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.429C>T	14.37:g.94187823G>A						PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N143N	p.N143N	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	531	-		all_cancers(154;0.127)	143					Q86XR6	Silent	SNP	ENST00000393140.1	37	c.429C>T	CCDS9912.1																																																																																				0.572	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		4	42	0	0	0	1	0	4	42				
TAGAP	117289	broad.mit.edu	37	6	159462434	159462434	+	Silent	SNP	C	C	T	rs373228267		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:159462434C>T	ENST00000367066.3	-	6	760	c.429G>A	c.(427-429)gcG>gcA	p.A143A	RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	143	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAGATCCACCGCATCCCCAG	0.552																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(427-429)gcG>gcA		T-cell activation RhoGTPase activating protein							101.0	89.0	93.0					6																	159462434		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159462434C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.429G>A	6.37:g.159462434C>T						RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	p.A143A	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	6	760	-		Breast(66;0.000776)|Ovarian(120;0.0303)	143			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.429G>A	CCDS5261.1																																																																																				0.552	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		13	77	0	0	0	1	0	13	77				
GON4L	54856	broad.mit.edu	37	1	155744857	155744857	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:155744857C>A	ENST00000368331.1	-	17	2334	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.L762L|GON4L_ENST00000437809.1_Silent_p.L762L|GON4L_ENST00000361040.5_Silent_p.L762L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	762					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCTTCAATCAGCTGCATAG	0.463																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(2284-2286)ctG>ctT		gon-4-like (C. elegans)							57.0	57.0	57.0					1																	155744857		2202	4280	6482	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155744857C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2286G>T	1.37:g.155744857C>A						GON4L_ENST00000368331.1_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000271883.5_Silent_p.L762L	p.L762L			Q3T8J9	GON4L_HUMAN			17	2408	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		762					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.2286G>T																																																																																					0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		5	57	1	0	0.0215528	1	0.0217669	5	57				
MGAT4C	25834	broad.mit.edu	37	12	86373610	86373610	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:86373610C>G	ENST00000604798.1	-	8	2098	c.894G>C	c.(892-894)caG>caC	p.Q298H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	298					cellular protein metabolic process (GO:0044267)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCACATTTTTCTGAGCCAACA	0.383																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(892-894)caG>caC		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							79.0	77.0	77.0					12																	86373610		2203	4300	6503	SO:0001583	missense	25834				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.chr12:86373610C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.894G>C	12.37:g.86373610C>G	ENSP00000474896:p.Gln298His					MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H	p.Q298H			Q9UBM8	MGT4C_HUMAN			8	2098	-			298					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.894G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869019	0.32977	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.71871	2.18	0.50039	D	0.999848	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63888	-0.6535	10	0.54805	T	0.06	-8.6765	3.7981	0.08747	0.0:0.6718:0.0:0.3282	.	327;298	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	298;327;298;298;298;298;298	ENSP00000331664:Q298H;ENSP00000376900:Q327H;ENSP00000449022:Q298H;ENSP00000446647:Q298H;ENSP00000447253:Q298H;ENSP00000449172:Q298H	ENSP00000331664:Q298H	Q	-	3	2	MGAT4C	84897741	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	2.707000	0.47143	2.718000	0.92993	0.650000	0.86243	CAG		0.383	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		11	95	0	0	0	1	0	11	95				
CUL3	8452	broad.mit.edu	37	2	225365164	225365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:225365164G>A	ENST00000264414.4	-	11	1864	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000344951.4_Missense_Mutation_p.T443M|CUL3_ENST00000409096.1_Missense_Mutation_p.T485M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	509					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATATCCTGTCGTGAGCACCCG	0.423																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1525-1527)aCg>aTg		cullin 3							206.0	182.0	190.0					2																	225365164		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225365164G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1526C>T	2.37:g.225365164G>A	ENSP00000264414:p.Thr509Met					CUL3_ENST00000344951.4_Missense_Mutation_p.T443M|CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000409096.1_Missense_Mutation_p.T485M	p.T509M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	11	1864	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	509					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1526C>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490273	0.84962	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.03	5.15	0.70609	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93578	0.6910	10	0.87932	D	0	.	17.3355	0.87280	0.0:0.1252:0.8748:0.0	.	443;487;509	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	M	509;443;485;485	ENSP00000264414:T509M;ENSP00000343601:T443M;ENSP00000387200:T485M;ENSP00000386525:T485M	ENSP00000264414:T509M	T	-	2	0	CUL3	225073408	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.476000	0.97823	1.535000	0.49220	-0.175000	0.13238	ACG		0.423	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			8	108	0	0	0	1	0	8	108				
HCRTR1	3061	broad.mit.edu	37	1	32085276	32085276	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:32085276G>A	ENST00000373706.5	+	2	496	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000403528.2_Missense_Mutation_p.G115S|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	115					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGGCTGTTCGGCCATGCCCT	0.582																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(343-345)Ggc>Agc		hypocretin (orexin) receptor 1							118.0	87.0	98.0					1																	32085276		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32085276G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.343G>A	1.37:g.32085276G>A	ENSP00000362810:p.Gly115Ser					HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S|HCRTR1_ENST00000373706.5_Missense_Mutation_p.G115S	p.G115S	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	4	728	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	115					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.343G>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059499	0.93846	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.40225	1.04;1.04;1.04	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.85099	2.735	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73655	-0.3914	10	0.62326	D	0.03	.	15.3972	0.74805	0.0:0.0:1.0:0.0	.	115;115	A6NMV7;O43613	.;OX1R_HUMAN	S	115	ENSP00000384387:G115S;ENSP00000362810:G115S;ENSP00000362809:G115S	ENSP00000362809:G115S	G	+	1	0	HCRTR1	31857863	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	9.407000	0.97325	2.383000	0.81215	0.655000	0.94253	GGC		0.582	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		3	23	0	0	0	1	0	3	23				
TIAM1	7074	broad.mit.edu	37	21	32639270	32639270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:32639270G>C	ENST00000286827.3	-	5	490	c.19C>G	c.(19-21)Caa>Gaa	p.Q7E	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q7E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	7					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTACATGTTGACTTTCTGCG	0.527																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(19-21)Caa>Gaa		T-cell lymphoma invasion and metastasis 1							54.0	56.0	55.0					21																	32639270		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639270G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.19C>G	21.37:g.32639270G>C	ENSP00000286827:p.Gln7Glu					TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q7E	p.Q7E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	490	-			7					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.19C>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605758	0.66445	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.49432	0.85;0.78	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.53249	1.67	0.58432	D	0.99999	P;P;P	0.47106	0.89;0.824;0.824	P;B;B	0.45232	0.474;0.282;0.282	T	0.59010	-0.7534	10	0.87932	D	0	.	18.4781	0.90800	0.0:0.0:1.0:0.0	.	7;7;7	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	E	7	ENSP00000286827:Q7E;ENSP00000441570:Q7E	ENSP00000286827:Q7E	Q	-	1	0	TIAM1	31561141	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.167000	0.94773	2.367000	0.80283	0.460000	0.39030	CAA		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		8	50	0	0	0	1	0	8	50				
USH2A	7399	broad.mit.edu	37	1	215960129	215960129	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:215960129T>C	ENST00000307340.3	-	52	10656	c.10270A>G	c.(10270-10272)Att>Gtt	p.I3424V	USH2A_ENST00000366943.2_Missense_Mutation_p.I3424V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3424	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTGCAAATGTGGCTGGTA	0.463										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10270-10272)Att>Gtt		Usher syndrome 2A (autosomal recessive, mild)							110.0	95.0	100.0					1																	215960129		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960129T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10270A>G	1.37:g.215960129T>C	ENSP00000305941:p.Ile3424Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.I3424V	p.I3424V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10656	-			3424			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10270A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	0.681	-0.798141	0.02862	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	4.88	-1.96	0.07525	Fibronectin, type III (3);	0.762525	0.11075	N	0.602422	T	0.06416	0.0165	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44651	-0.9314	10	0.12766	T	0.61	.	10.1691	0.42900	0.0:0.2877:0.0:0.7123	.	3424	O75445	USH2A_HUMAN	V	3424	ENSP00000305941:I3424V;ENSP00000355910:I3424V	ENSP00000305941:I3424V	I	-	1	0	USH2A	214026752	0.000000	0.05858	0.004000	0.12327	0.774000	0.43823	-1.405000	0.02492	-0.418000	0.07450	-0.177000	0.13119	ATT		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	59	0	0	0	1	0	6	59				
KIAA1244	57221	broad.mit.edu	37	6	138615205	138615205	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:138615205G>A	ENST00000251691.4	+	20	3610	c.3444G>A	c.(3442-3444)tcG>tcA	p.S1148S		NM_020340.4	NP_065073.3			KIAA1244									p.S1077S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAAAGCATCGCAGTCTCAGC	0.433																																						ENST00000251691.4																			1	Substitution - coding silent(1)	p.S1077S(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3442-3444)tcG>tcA		KIAA1244							141.0	127.0	132.0					6																	138615205		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138615205G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3444G>A	6.37:g.138615205G>A							p.S1148S	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	20	3610	+	Breast(32;0.135)		1148						Silent	SNP	ENST00000251691.4	37	c.3444G>A	CCDS5189.2																																																																																				0.433	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		7	68	0	0	0	1	0	7	68				
CYBB	1536	broad.mit.edu	37	X	37655262	37655262	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37655262T>C	ENST00000378588.4	+	6	609	c.542T>C	c.(541-543)gTc>gCc	p.V181A	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V149A	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	181	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	ACTGGAGTTGTCATCACGCTG	0.458																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(541-543)gTc>gCc		cytochrome b-245, beta polypeptide							166.0	124.0	138.0					X																	37655262		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37655262T>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.542T>C	X.37:g.37655262T>C	ENSP00000367851:p.Val181Ala					CYBB_ENST00000545017.1_Missense_Mutation_p.V149A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	p.V181A	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			6	609	+			181			Ferric oxidoreductase.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.542T>C	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475985	0.44044	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.91351	-2.83;-2.83	5.4	5.4	0.78164	Flavoprotein transmembrane component (1);	0.236436	0.42548	D	0.000696	D	0.86573	0.5965	L	0.37630	1.12	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15052	0.009;0.012	T	0.82859	-0.0249	10	0.54805	T	0.06	.	14.5291	0.67912	0.0:0.0:0.0:1.0	.	149;181	F5GWD2;P04839	.;CY24B_HUMAN	A	181;149	ENSP00000367851:V181A;ENSP00000441896:V149A	ENSP00000367851:V181A	V	+	2	0	CYBB	37540202	0.992000	0.36948	0.996000	0.52242	0.679000	0.39708	3.119000	0.50422	1.811000	0.52892	0.437000	0.28790	GTC		0.458	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			7	95	0	0	0	1	0	7	95				
NCOA1	8648	broad.mit.edu	37	2	24952396	24952396	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:24952396G>C	ENST00000406961.1	+	17	3565	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000405141.1_Missense_Mutation_p.E971D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	971	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTATCAGAGAGATTTCCAC	0.403			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2911-2913)gaG>gaC		nuclear receptor coactivator 1							125.0	114.0	118.0					2																	24952396		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952396G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2913G>C	2.37:g.24952396G>C	ENSP00000385216:p.Glu971Asp					NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000406961.1_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D	p.E971D			Q15788	NCOA1_HUMAN			18	3624	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		971			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2913G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	6.298	0.423024	0.11928	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02085	4.57;4.57;4.46;4.57;4.57;4.57;4.57	4.98	3.15	0.36227	Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.267444	0.42821	N	0.000658	T	0.00936	0.0031	N	0.01576	-0.805	0.39933	D	0.974317	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.55903	-0.8067	10	0.28530	T	0.3	.	5.0897	0.14702	0.0794:0.1597:0.6173:0.1436	.	971;971;971;820	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	971;971;820;971;971;971;971	ENSP00000385216:E971D;ENSP00000385097:E971D;ENSP00000385195:E820D;ENSP00000444039:E971D;ENSP00000320940:E971D;ENSP00000288599:E971D;ENSP00000379197:E971D	ENSP00000288599:E971D	E	+	3	2	NCOA1	24805900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.623000	0.24447	0.792000	0.33850	0.585000	0.79938	GAG		0.403	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		13	109	0	0	0	1	0	13	109				
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:8021986C>G	ENST00000341937.5	-	12	1277	c.1213G>C	c.(1213-1215)Gac>Cac	p.D405H	ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438H|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405H|ABLIM2_ENST00000546334.1_Intron|RP11-338K13.1_ENST00000608962.1_RNA|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000296372.8_Missense_Mutation_p.D405H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405H	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTTGCTGTCAGAGAGCACG	0.622																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(1213-1215)Gac>Cac		actin binding LIM protein family, member 2							31.0	36.0	35.0					4																	8021986		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021986C>G	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1213G>C	4.37:g.8021986C>G	ENSP00000342813:p.Asp405His					ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438H|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405H|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000407564.3_Intron	p.D405H			Q6H8Q1	ABLM2_HUMAN			12	1355	-			405					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1213G>C	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555042	0.86231	.	.	ENSG00000163995	ENST00000400045;ENST00000296372;ENST00000545242;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.02	5.02	0.67125	.	0.390690	0.08080	U	1.000000	T	0.64713	0.2623	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.76494	0.998;0.993;0.998;0.999	D;D;D;D	0.67900	0.952;0.928;0.952;0.954	T	0.55049	-0.8201	10	0.45353	T	0.12	.	16.5334	0.84366	0.0:1.0:0.0:0.0	.	405;405;405;438	Q6H8Q1-2;Q6H8Q1;Q6H8Q1-5;E9PF39	.;ABLM2_HUMAN;.;.	H	438;405;405;438;405;405;206	ENSP00000296372:D405H;ENSP00000441255:D405H;ENSP00000393511:D438H;ENSP00000342813:D405H;ENSP00000355003:D405H;ENSP00000421718:D206H	ENSP00000296372:D405H	D	-	1	0	ABLIM2	8072886	1.000000	0.71417	0.976000	0.42696	0.929000	0.56500	6.872000	0.75536	2.335000	0.79485	0.561000	0.74099	GAC		0.622	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		5	36	0	0	0	1	0	5	36				
ZNF618	114991	broad.mit.edu	37	9	116811382	116811382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:116811382G>C	ENST00000374126.5	+	15	1899	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	ZNF618_ENST00000288466.7_Missense_Mutation_p.Q507H|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	600					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(4)|lung(10)|urinary_tract(1)	16						ACTGGGTGCAGAACGTGCTGT	0.602																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1519-1521)caG>caC		zinc finger protein 618							91.0	91.0	91.0					9																	116811382		2197	4279	6476	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811382G>C	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1800G>C	9.37:g.116811382G>C	ENSP00000363241:p.Gln600His					ZNF618_ENST00000374126.5_Missense_Mutation_p.Q600H|ZNF618_ENST00000470105.1_3'UTR	p.Q507H	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1620	+			600					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.1521G>C		.	.	.	.	.	.	.	.	.	.	G	16.23	3.064935	0.55432	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21191	2.02;2.02	5.14	4.24	0.50183	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	.	.	.	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.998	D;D;D	0.83275	0.976;0.993;0.996	T	0.41179	-0.9523	9	0.48119	T	0.1	-19.8583	12.8195	0.57685	0.0791:0.0:0.9209:0.0	.	567;600;507	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	H	600;507	ENSP00000363241:Q600H;ENSP00000288466:Q507H	ENSP00000288466:Q507H	Q	+	3	2	ZNF618	115851203	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.125000	0.71627	1.298000	0.44778	0.462000	0.41574	CAG		0.602	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		9	64	0	0	0	1	0	9	64				
CMA1	1215	broad.mit.edu	37	14	24975727	24975727	+	Missense_Mutation	SNP	C	C	T	rs13306252	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:24975727C>T	ENST00000250378.3	-	3	322	c.293G>A	c.(292-294)cGt>cAt	p.R98H	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> H (in dbSNP:rs13306252).		angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TTTTGGATGACGGAATTGCTT	0.423													C|||	10	0.00199681	0.0008	0.0	5008	,	,		22743	0.0079		0.0	False		,,,				2504	0.001					ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(292-294)cGt>cAt		chymase 1, mast cell		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	359.0	312.0	328.0		293	-5.9	0.0	14	dbSNP_121	328	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CMA1	NM_001836.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	98/248	24975727	3,13003	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975727C>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.293G>A	14.37:g.24975727C>T	ENSP00000250378:p.Arg98His					CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	p.R98H	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	322	-			98		R -> H (in dbSNP:rs13306252).	Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.293G>A	CCDS9630.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	16.99	3.274530	0.59649	4.54E-4	1.16E-4	ENSG00000092009	ENST00000250378	T	0.59772	0.24	5.52	-5.92	0.02261	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.505090	0.01224	N	0.008166	T	0.33818	0.0876	N	0.20328	0.56	0.09310	N	0.999999	D	0.60160	0.987	P	0.47346	0.544	T	0.43163	-0.9408	10	0.15066	T	0.55	.	7.2567	0.26181	0.4623:0.3198:0.2179:0.0	rs13306252;rs52825023;rs13306252	98	P23946	CMA1_HUMAN	H	98	ENSP00000250378:R98H	ENSP00000250378:R98H	R	-	2	0	CMA1	24045567	0.023000	0.18921	0.000000	0.03702	0.332000	0.28634	0.065000	0.14466	-1.632000	0.01541	-0.165000	0.13383	CGT		0.423	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			12	134	0	0	0	1	0	12	134				
ARHGEF11	9826	broad.mit.edu	37	1	156914199	156914199	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156914199C>T	ENST00000361409.2	-	30	3640	c.2898G>A	c.(2896-2898)atG>atA	p.M966I	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.M1006I|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	966	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCATGGATCATTTTTCTGG	0.493																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(3016-3018)atG>atA		Rho guanine nucleotide exchange factor (GEF) 11							130.0	125.0	127.0					1																	156914199		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914199C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2898G>A	1.37:g.156914199C>T	ENSP00000354644:p.Met966Ile					ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M966I	p.M1006I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			31	4057	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		966			PH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.3018G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253644	0.80135	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.62232	0.04;0.04;0.04	5.13	5.13	0.70059	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000002	T	0.74711	0.3752	M	0.71581	2.175	0.80722	D	1	P;D;D	0.71674	0.931;0.998;0.987	P;D;D	0.70487	0.832;0.965;0.969	T	0.76971	-0.2761	10	0.72032	D	0.01	-26.4039	18.3554	0.90356	0.0:1.0:0.0:0.0	.	382;966;1006	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	I	1006;966;382	ENSP00000357177:M1006I;ENSP00000354644:M966I;ENSP00000313470:M382I	ENSP00000313470:M382I	M	-	3	0	ARHGEF11	155180823	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.556000	0.82233	2.659000	0.90383	0.561000	0.74099	ATG		0.493	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		5	59	0	0	0	1	0	5	59				
PHOSPHO2	493911	broad.mit.edu	37	2	170558169	170558169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:170558169G>C	ENST00000359744.3	+	4	1076	c.688G>C	c.(688-690)Gat>Cat	p.D230H	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	230							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTCAGGTGTTGATATAATTTC	0.338																																						ENST00000359744.3																			0				breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(688-690)Gat>Cat		phosphatase, orphan 2							39.0	40.0	40.0					2																	170558169		2203	4298	6501	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170558169G>C	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.688G>C	2.37:g.170558169G>C	ENSP00000352782:p.Asp230His					KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	p.D230H	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN			4	1076	+			230					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.688G>C	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546969	0.65198	.	.	ENSG00000144362	ENST00000359744	T	0.51325	0.71	5.59	5.59	0.84812	HAD-like domain (1);	0.134780	0.48286	U	0.000182	T	0.52224	0.1721	L	0.46670	1.46	0.43971	D	0.996656	B	0.31026	0.304	B	0.39562	0.303	T	0.52845	-0.8521	10	0.62326	D	0.03	.	19.5882	0.95497	0.0:0.0:1.0:0.0	.	230	Q8TCD6	PHOP2_HUMAN	H	230	ENSP00000352782:D230H	ENSP00000352782:D230H	D	+	1	0	PHOSPHO2	170266415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.601000	0.61090	2.632000	0.89209	0.655000	0.94253	GAT		0.338	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		9	58	0	0	0	1	0	9	58				
GTF3C1	2975	broad.mit.edu	37	16	27539953	27539953	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:27539953G>A	ENST00000356183.4	-	6	954	c.939C>T	c.(937-939)atC>atT	p.I313I	GTF3C1_ENST00000561623.1_Silent_p.I313I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	313					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATTCAGGGTGGATCTCTTGCA	0.507																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(937-939)atC>atT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							133.0	129.0	130.0					16																	27539953		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27539953G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.939C>T	16.37:g.27539953G>A						GTF3C1_ENST00000561623.1_Silent_p.I313I	p.I313I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			6	954	-			313					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.939C>T	CCDS32414.1																																																																																				0.507	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		15	126	0	0	0	1	0	15	126				
BTBD1	53339	broad.mit.edu	37	15	83698895	83698895	+	Nonsense_Mutation	SNP	G	G	A	rs201223863		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83698895G>A	ENST00000261721.4	-	5	1250	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TACCTGATTCGATCACTCGTC	0.448																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(1048-1050)Cga>Tga		BTB (POZ) domain containing 1							291.0	304.0	300.0					15																	83698895		2203	4300	6503	SO:0001587	stop_gained	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83698895G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1048C>T	15.37:g.83698895G>A	ENSP00000261721:p.Arg350*					RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	p.R350*	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	5	1250	-			350					A6NMI8|Q9BX71|Q9NWN4	Nonsense_Mutation	SNP	ENST00000261721.4	37	c.1048C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367585	0.95900	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-15.4214	13.058	0.58992	0.0:0.0:0.7073:0.2927	.	.	.	.	X	350	.	ENSP00000261721:R350X	R	-	1	2	BTBD1	81489899	1.000000	0.71417	0.063000	0.19743	0.973000	0.67179	2.913000	0.48790	1.284000	0.44531	0.561000	0.74099	CGA		0.448	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			40	380	0	0	0	1	0	40	380				
CHAMP1	283489	broad.mit.edu	37	13	115089332	115089332	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:115089332G>A	ENST00000361283.1	+	3	324	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	5					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAGCATTCCAGGAACTTCGTA	0.378																																						ENST00000361283.1																			0											c.(13-15)caG>caA		chromosome alignment maintaining phosphoprotein 1							123.0	118.0	119.0					13																	115089332		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089332G>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.15G>A	13.37:g.115089332G>A							p.Q5Q	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	324	+			5					B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.15G>A	CCDS9545.1																																																																																				0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		12	113	0	0	0	1	0	12	113				
EGFLAM	133584	broad.mit.edu	37	5	38427202	38427202	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:38427202C>T	ENST00000354891.3	+	14	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Silent_p.F634F|EGFLAM_ENST00000397202.2_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	634	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCTTTCCTTCATGGAATTTG	0.493																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1900-1902)ttC>ttT		EGF-like, fibronectin type III and laminin G domains							152.0	148.0	149.0					5																	38427202		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427202C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1902C>T	5.37:g.38427202C>T						EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR	p.F634F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2248	+	all_lung(31;0.000385)		634			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1902C>T	CCDS56363.1																																																																																				0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	140	0	0	0	1	0	18	140				
ZHX1	11244	broad.mit.edu	37	8	124266008	124266008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124266008G>C	ENST00000522655.1	-	3	2719	c.2179C>G	c.(2179-2181)Cag>Gag	p.Q727E	ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.Q727E			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	727					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCGCTCTGATAGTAGTAG	0.502																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2179-2181)Cag>Gag		zinc fingers and homeoboxes 1							116.0	104.0	108.0					8																	124266008		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266008G>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2179C>G	8.37:g.124266008G>C	ENSP00000428821:p.Gln727Glu					ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q727E|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.Q727E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2796	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		727					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.2179C>G	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398969|4.398969	0.83120|0.83120	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|D;D;D	.|0.91631	.|-2.88;-2.88;-2.88	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.059575	.|0.64402	.|D	.|0.000002	D|D	0.94029|0.94029	0.8087|0.8087	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.55605	.|0.972	.|P	.|0.51615	.|0.675	D|D	0.92735|0.92735	0.6203|0.6203	4|9	.|0.41790	.|T	.|0.15	-15.0086|-15.0086	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|727	.|Q9UKY1	.|ZHX1_HUMAN	M|E	411|727	.|ENSP00000297857:Q727E;ENSP00000378938:Q727E;ENSP00000428821:Q727E	.|ENSP00000297857:Q727E	I|Q	-|-	3|1	3|0	ZHX1|ZHX1	124335189|124335189	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.954000|0.954000	0.61252|0.61252	9.090000|9.090000	0.94144|0.94144	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	ATC|CAG		0.502	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			10	91	0	0	0	1	0	10	91				
TSHR	7253	broad.mit.edu	37	14	81610460	81610460	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:81610460G>A	ENST00000541158.2	+	11	2380	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	TSHR_ENST00000298171.2_Silent_p.Q686Q|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.Q686H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGCCTTCCAGAGGGATGTGT	0.478			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)	p.Q686H(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(2056-2058)caG>caA		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						160.0	154.0	156.0					14																	81610460		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610460G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2058G>A	14.37:g.81610460G>A						TSHR_ENST00000298171.2_Silent_p.Q686Q|RP11-114N19.3_ENST00000557775.1_RNA	p.Q686Q			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2380	+			686					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.2058G>A	CCDS9872.1																																																																																				0.478	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		19	145	0	0	0	1	0	19	145				
ZBTB45	84878	broad.mit.edu	37	19	59028991	59028991	+	Missense_Mutation	SNP	C	C	T	rs117819245	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:59028991C>T	ENST00000594051.1	-	2	530	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	17					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)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCAGAGAGCGTGAGAAGTT	0.592											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		16977	0.002		0.0	False		,,,				2504	0.0				NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(49-51)cGc>cAc		zinc finger and BTB domain containing 45							58.0	64.0	62.0					19																	59028991		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028991C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.50G>A	19.37:g.59028991C>T	ENSP00000469089:p.Arg17His		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H	p.R17H			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	530	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	17						Missense_Mutation	SNP	ENST00000594051.1	37	c.50G>A	CCDS12984.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	21.4	4.140809	0.77775	.	.	ENSG00000119574	ENST00000354590	T	0.22336	1.96	4.08	3.02	0.34903	BTB/POZ fold (2);	0.213572	0.30151	U	0.010288	T	0.16938	0.0407	N	0.20574	0.59	0.32519	N	0.536512	D	0.71674	0.998	P	0.51193	0.662	T	0.09952	-1.0651	10	0.72032	D	0.01	.	5.7498	0.18140	0.0:0.7671:0.0:0.2329	.	17	Q96K62	ZBT45_HUMAN	H	17	ENSP00000346603:R17H	ENSP00000346603:R17H	R	-	2	0	ZBTB45	63720803	0.010000	0.17322	0.353000	0.25747	0.961000	0.63080	1.264000	0.33015	1.998000	0.58463	0.305000	0.20034	CGC		0.592	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		6	54	0	0	0	1	0	6	54				
FAM47C	442444	broad.mit.edu	37	X	37028001	37028001	+	Silent	SNP	C	C	T	rs149060980		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:37028001C>T	ENST00000358047.3	+	1	1570	c.1518C>T	c.(1516-1518)cgC>cgT	p.R506R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	506								p.R506R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACACGCGTATCTCATC	0.617													N|||	1	0.000264901	0.0008	0.0	3775	,	,		13118	0.0		0.0	False		,,,				2504	0.0					ENST00000358047.3																			2	Substitution - coding silent(2)	p.R506R(2)	endometrium(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1516-1518)cgC>cgT		family with sequence similarity 47, member C		C		4,3829		0,2,2,1629,569	84.0	81.0	82.0		1518	-2.0	0.0	X	dbSNP_134	82	0,6728		0,0,0,2428,1872	no	coding-synonymous	FAM47C	NM_001013736.2		0,2,2,4057,2441	TT,TC,T,CC,C		0.0,0.1044,0.0379		506/1036	37028001	4,10557	2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028001C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1518C>T	X.37:g.37028001C>T							p.R506R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1570	+			506					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1518C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		13	154	0	0	0	1	0	13	154				
MMP26	56547	broad.mit.edu	37	11	4825751	4825751	+	Intron	SNP	G	G	C	rs112773148	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4825751G>C	ENST00000380390.1	+	1	72				OR52R1_ENST00000356069.2_5'Flank|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.L33V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TTATAAACTAGAATAATTTCA	0.303																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(97-99)Cta>Gta		olfactory receptor, family 52, subfamily R, member 1							45.0	48.0	47.0					11																	4825751		2201	4294	6495	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825751G>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37180G>C	11.37:g.4825751G>C						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L33V			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	96	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	0					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.97C>G	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	5.161	0.215232	0.09810	.	.	ENSG00000176937	ENST00000380382	T	0.00406	7.55	4.17	2.23	0.28157	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35450	-0.9788	5	.	.	.	.	4.9621	0.14072	0.1172:0.2213:0.6615:0.0	.	.	.	.	V	33	ENSP00000369742:L33V	.	L	-	1	2	OR52R1	4782327	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.919000	0.04017	1.034000	0.39945	0.650000	0.86243	CTA		0.303	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		6	72	0	0	0	1	0	6	72				
NLRP5	126206	broad.mit.edu	37	19	56569758	56569758	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56569758C>G	ENST00000390649.3	+	14	3452	c.3452C>G	c.(3451-3453)tCt>tGt	p.S1151C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1151					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.S1151C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCACGTCTAACTTACAG	0.483																																						ENST00000390649.3																			1	Substitution - Missense(1)	p.S1151C(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3451-3453)tCt>tGt		NLR family, pyrin domain containing 5							60.0	60.0	60.0					19																	56569758		2008	4179	6187	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56569758C>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3452C>G	19.37:g.56569758C>G	ENSP00000375063:p.Ser1151Cys						p.S1151C	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	14	3452	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1151					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3452C>G	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	2.836	-0.241633	0.05906	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	3.5	-0.119	0.13543	.	0.000000	0.33346	N	0.005009	T	0.22781	0.0550	N	0.04018	-0.295	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.20273	-1.0280	10	0.32370	T	0.25	.	11.103	0.48186	0.0:0.4715:0.5285:0.0	.	1151	P59047	NALP5_HUMAN	C	1151	ENSP00000375063:S1151C	ENSP00000375063:S1151C	S	+	2	0	NLRP5	61261570	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.951000	0.03885	0.087000	0.17167	-0.165000	0.13383	TCT		0.483	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		4	29	0	0	0	1	0	4	29				
UGGT1	56886	broad.mit.edu	37	2	128935448	128935448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:128935448G>C	ENST00000259253.6	+	33	3714	c.3667G>C	c.(3667-3669)Gat>Cat	p.D1223H	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1199H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1223					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTGCTGAGTGATGGAACGAG	0.388																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3595-3597)Gat>Cat		UDP-glucose glycoprotein glucosyltransferase 1							314.0	285.0	295.0					2																	128935448		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128935448G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3667G>C	2.37:g.128935448G>C	ENSP00000259253:p.Asp1223His					UGGT1_ENST00000259253.6_Missense_Mutation_p.D1223H	p.D1199H			Q9NYU2	UGGG1_HUMAN			33	3998	+			1223					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3595G>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932772	0.92458	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.09723	2.96;2.95	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.87682	2.9	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.24764	-1.0151	9	.	.	.	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	1223	Q9NYU2	UGGG1_HUMAN	H	1199;1223	ENSP00000365158:D1199H;ENSP00000259253:D1223H	.	D	+	1	0	UGGT1	128651918	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.439000	0.97543	2.756000	0.94617	0.655000	0.94253	GAT		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		9	131	0	0	0	1	0	9	131				
BRWD3	254065	broad.mit.edu	37	X	79999689	79999689	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:79999689G>A	ENST00000373275.4	-	8	871	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	219					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R219C(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTGTCCACGAAGTGTAGCA	0.403																																						ENST00000373275.4																			1	Substitution - Missense(1)	p.R219C(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(655-657)Cgt>Tgt		bromodomain and WD repeat domain containing 3							121.0	108.0	113.0					X																	79999689		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999689G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.655C>T	X.37:g.79999689G>A	ENSP00000362372:p.Arg219Cys						p.R219C	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			8	871	-			219					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.655C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962280	0.74016	.	.	ENSG00000165288	ENST00000373275	T	0.20738	2.05	4.42	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.077607	0.52532	D	0.000070	T	0.48021	0.1477	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50415	-0.8831	9	.	.	.	-8.4293	12.4102	0.55464	0.0:0.0:0.6667:0.3333	.	219	Q6RI45	BRWD3_HUMAN	C	219	ENSP00000362372:R219C	.	R	-	1	0	BRWD3	79886345	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.812000	0.55628	0.369000	0.24510	0.415000	0.27848	CGT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		10	138	0	0	0	1	0	10	138				
ZNF74	7625	broad.mit.edu	37	22	20761221	20761221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:20761221G>A	ENST00000400451.2	+	5	2412	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D|ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	633					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCAGAGCTGGCAGGAATTTC	0.572																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1897-1899)gGc>gAc		zinc finger protein 74							41.0	45.0	44.0					22																	20761221		2042	4186	6228	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761221G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1898G>A	22.37:g.20761221G>A	ENSP00000383301:p.Gly633Asp					ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D	p.G633D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2412	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	633					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1898G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711976	0.48517	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05580	3.5;3.5;3.42	4.1	2.02	0.26589	.	0.163209	0.29328	N	0.012464	T	0.05686	0.0149	L	0.38175	1.15	0.22648	N	0.998893	B	0.20550	0.046	B	0.17098	0.017	T	0.30794	-0.9966	10	0.62326	D	0.03	.	8.4559	0.32899	0.1899:0.0:0.8101:0.0	.	633	Q16587	ZNF74_HUMAN	D	633;633;601	ENSP00000383301:G633D;ENSP00000349098:G633D;ENSP00000385855:G601D	ENSP00000349098:G633D	G	+	2	0	ZNF74	19091221	0.657000	0.27393	0.050000	0.19076	0.039000	0.13416	0.927000	0.28818	0.680000	0.31366	0.563000	0.77884	GGC		0.572	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		7	34	0	0	0	1	0	7	34				
ZNF710	374655	broad.mit.edu	37	15	90611533	90611533	+	Silent	SNP	C	C	T	rs144375764		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1162-1164)ttC>ttT		zinc finger protein 710		C		0,4400		0,0,2200	38.0	43.0	41.0		1164	-3.2	1.0	15	dbSNP_134	41	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	ZNF710	NM_198526.2		0,4,6494	TT,TC,CC		0.0465,0.0,0.0308		388/665	90611533	4,12992	2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611533C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1164C>T	15.37:g.90611533C>T							p.F388F	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1415	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		388					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1164C>T	CCDS10358.1																																																																																				0.642	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		5	69	0	0	0	1	0	5	69				
CDCA7L	55536	broad.mit.edu	37	7	21946011	21946011	+	Missense_Mutation	SNP	G	G	A	rs139249411		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:21946011G>A	ENST00000406877.3	-	6	1096	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	273					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGCACTCCGGGTTGGGTTC	0.527																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(817-819)Cgg>Tgg		cell division cycle associated 7-like		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	94.0	105.0	102.0		715,679,817	5.8	1.0	7	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDCA7L	NM_001127370.2,NM_001127371.2,NM_018719.4	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	239/421,227/409,273/455	21946011	1,13005	2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21946011G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.817C>T	7.37:g.21946011G>A	ENSP00000383986:p.Arg273Trp					CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W	p.R273W	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			6	1096	-			273					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.817C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572378	0.65765	0.0	1.16E-4	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.61980	0.11;0.08;0.06	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.83953	2.67	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82108	-0.0620	10	0.87932	D	0	.	13.0581	0.58992	0.0:0.0:0.7343:0.2657	.	227;273;272	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	W	239;273;227	ENSP00000348523:R239W;ENSP00000383986:R273W;ENSP00000363045:R227W	ENSP00000348523:R239W	R	-	1	2	CDCA7L	21912536	1.000000	0.71417	0.990000	0.47175	0.325000	0.28411	3.755000	0.55197	2.767000	0.95098	0.655000	0.94253	CGG		0.527	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		12	164	0	0	0	1	0	12	164				
DAZAP2	9802	broad.mit.edu	37	12	51634709	51634709	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:51634709G>A	ENST00000412716.3	+	3	803	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000549555.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A63T|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A3T|DAZAP2_ENST00000425012.2_Missense_Mutation_p.A63T			Q15038	DAZP2_HUMAN	DAZ associated protein 2	63	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACCATGTCAGCCGCATTTCC	0.532																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(187-189)Gcc>Acc		DAZ associated protein 2							98.0	96.0	97.0					12																	51634709		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51634709G>A	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.187G>A	12.37:g.51634709G>A	ENSP00000394699:p.Ala63Thr					DAZAP2_ENST00000425012.2_Missense_Mutation_p.A63T|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A3T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A63T|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000549555.1_Missense_Mutation_p.A63T	p.A63T			Q15038	DAZP2_HUMAN			3	803	+			63			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.187G>A	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642223	0.87859	.	.	ENSG00000183283	ENST00000412716;ENST00000549555;ENST00000425012;ENST00000449723;ENST00000551313	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.97;0.54	4.23	4.23	0.50019	.	0.056673	0.64402	D	0.000001	T	0.59059	0.2166	L	0.36672	1.1	0.45662	D	0.998583	D;D;P	0.55605	0.972;0.965;0.95	P;P;P	0.57720	0.748;0.702;0.826	T	0.61826	-0.6983	10	0.56958	D	0.05	-11.9427	16.5917	0.84767	0.0:0.0:1.0:0.0	.	63;63;63	B4DDT5;F8VU62;Q15038	.;.;DAZP2_HUMAN	T	63;63;63;63;3	ENSP00000394699:A63T;ENSP00000448051:A63T;ENSP00000408251:A63T;ENSP00000412812:A63T;ENSP00000447842:A3T	ENSP00000394699:A63T	A	+	1	0	DAZAP2	49920976	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.873000	0.56093	2.646000	0.89796	0.655000	0.94253	GCC		0.532	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		5	92	0	0	0	1	0	5	92				
TRMT1L	81627	broad.mit.edu	37	1	185108526	185108526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:185108526G>A	ENST00000367506.5	-	9	1563	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	TRMT1L_ENST00000367504.3_Missense_Mutation_p.A276V	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	432	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACAATTCTGGCTGCTAGTTC	0.398																																						ENST00000367504.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(826-828)gCc>gTc		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							71.0	64.0	66.0					1																	185108526		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185108526G>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1295C>T	1.37:g.185108526G>A	ENSP00000356476:p.Ala432Val					TRMT1L_ENST00000367506.5_Missense_Mutation_p.A432V	p.A276V			Q7Z2T5	TRM1L_HUMAN			9	1566	-			432					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.827C>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150785	0.37923	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	N	0.25144	0.715	0.80722	D	1	P	0.40398	0.716	B	0.42112	0.376	T	0.43228	-0.9404	9	0.30078	T	0.28	-11.5484	20.0366	0.97561	0.0:0.0:1.0:0.0	.	432	Q7Z2T5	TRM1L_HUMAN	V	276;432;56	.	ENSP00000356474:A276V	A	-	2	0	TRMT1L	183375149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.537000	0.98070	2.736000	0.93811	0.561000	0.74099	GCC		0.398	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		3	29	0	0	0	1	0	3	29				
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:80136879G>A	ENST00000402739.4	+	6	1017	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597																																						ENST00000466387.1																			2	Substitution - Missense(2)	p.V338M(2)	large_intestine(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1012-1014)Gtg>Atg		catenin (cadherin-associated protein), alpha 2							43.0	50.0	48.0					2																	80136879		2087	4229	6316	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136879G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1012G>A	2.37:g.80136879G>A	ENSP00000384638:p.Val338Met					CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M	p.V338M			P26232	CTNA2_HUMAN			11	1736	+			338					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1012G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.255998	0.95336	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	.	0.077367	0.51477	D	0.000082	T	0.70386	0.3218	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.965;0.94	T	0.74819	-0.3535	10	0.87932	D	0	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	338;338;338	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	338;338;372;338;338;338	ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M	ENSP00000355398:V372M	V	+	1	0	CTNNA2	79990390	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	GTG		0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	59	0	0	0	1	0	6	59				
CCR2	729230	broad.mit.edu	37	3	46400039	46400039	+	Intron	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:46400039G>C	ENST00000400888.2	+	1	980				CCR2_ENST00000292301.4_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.D341H|CCR2_ENST00000465202.1_3'UTR			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGAGACAGTGGATGGAGTGAC	0.473																																						ENST00000445132.2																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(1021-1023)Gat>Cat		chemokine (C-C motif) receptor 2							69.0	63.0	65.0					3																	46400039		692	1591	2283	SO:0001627	intron_variant	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46400039G>C		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.941+80G>C	3.37:g.46400039G>C						CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Intron	p.D341H	NM_001123396.1	NP_001116868.1	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1516	+			0					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.1021G>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190314	0.38707	.	.	ENSG00000121807	ENST00000445132	T	0.37058	1.22	4.91	4.91	0.64330	.	.	.	.	.	T	0.52484	0.1737	M	0.71296	2.17	0.80722	D	1	P	0.36315	0.547	P	0.48270	0.572	T	0.57539	-0.7794	9	0.87932	D	0	.	16.6414	0.85128	0.0:0.0:1.0:0.0	.	341	Q4VBL2	.	H	341	ENSP00000399285:D341H	ENSP00000399285:D341H	D	+	1	0	CCR2	46375043	1.000000	0.71417	0.083000	0.20561	0.099000	0.18886	4.898000	0.63238	2.442000	0.82660	0.557000	0.71058	GAT		0.473	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		4	32	0	0	0	1	0	4	32				
MRM1	79922	broad.mit.edu	37	17	34964340	34964340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:34964340G>A	ENST00000585770.1	+	4	448	c.190G>A	c.(190-192)Gag>Aag	p.E64K	MRM1_ENST00000250156.7_Missense_Mutation_p.E259K					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGGAATGAGGGCTCAGG	0.617																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(775-777)Gag>Aag		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							66.0	63.0	64.0					17																	34964340		2203	4300	6503	SO:0001583	missense	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964340G>A	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.190G>A	17.37:g.34964340G>A	ENSP00000465317:p.Glu64Lys					MRM1_ENST00000585770.1_Missense_Mutation_p.E64K	p.E259K	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	4	1014	+		Breast(25;0.00957)|Ovarian(249;0.17)	259						Missense_Mutation	SNP	ENST00000585770.1	37	c.775G>A		.	.	.	.	.	.	.	.	.	.	G	25.8	4.678614	0.88542	.	.	ENSG00000129282	ENST00000250156	D	0.83914	-1.78	5.12	5.12	0.69794	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97312	0.9938	10	0.87932	D	0	-23.7372	16.3217	0.82953	0.0:0.0:1.0:0.0	.	259	Q6IN84	MRM1_HUMAN	K	259	ENSP00000250156:E259K	ENSP00000250156:E259K	E	+	1	0	MRM1	32038453	1.000000	0.71417	0.998000	0.56505	0.513000	0.34164	8.145000	0.89625	2.399000	0.81585	0.462000	0.41574	GAG		0.617	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864		8	68	0	0	0	1	0	8	68				
CTU2	348180	broad.mit.edu	37	16	88778042	88778042	+	Splice_Site	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:88778042G>T	ENST00000453996.2	+	5	350		c.e5-1		CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000567949.1_Splice_Site|CTU2_ENST00000378384.3_Splice_Site	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTCCCTCTAGGGCCTGAGCC	0.527																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.e5-1		cytosolic thiouridylase subunit 2 homolog (S. pombe)							113.0	92.0	99.0					16																	88778042		2198	4300	6498	SO:0001630	splice_region_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88778042G>T	BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 84"""	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.283-1G>T	16.37:g.88778042G>T						CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000378384.3_Splice_Site				Q2VPK5	CTU2_HUMAN			5	291	+									Splice_Site	SNP	ENST00000453996.2	37		CCDS45545.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590156	0.46214	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4662	0.84079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTU2	87305543	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	5.095000	0.64529	2.234000	0.73211	0.563000	0.77884	.		0.527	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423025.1	NM_001012762	Intron	5	59	1	0	0.000602214	1	0.000622628	5	59				
TAS2R46	259292	broad.mit.edu	37	12	11214216	11214216	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11214216T>G	ENST00000533467.1	-	1	677	c.678A>C	c.(676-678)aaA>aaC	p.K226N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	226					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGCAAAGCTTTTATGTGGA	0.403																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(676-678)aaA>aaC		taste receptor, type 2, member 46							190.0	196.0	194.0					12																	11214216		2203	4299	6502	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214216T>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.678A>C	12.37:g.11214216T>G	ENSP00000436450:p.Lys226Asn					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.K226N	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	677	-			226					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.678A>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467458	0.26335	.	.	ENSG00000226761	ENST00000533467	T	0.37235	1.21	2.54	2.54	0.30619	.	.	.	.	.	T	0.42359	0.1199	M	0.76170	2.325	0.09310	N	1	P	0.37441	0.595	B	0.43575	0.424	T	0.24297	-1.0164	9	0.33141	T	0.24	.	8.5848	0.33651	0.0:0.0:0.0:1.0	.	226	P59540	T2R46_HUMAN	N	226	ENSP00000436450:K226N	ENSP00000436450:K226N	K	-	3	2	TAS2R46	11105483	0.002000	0.14202	0.006000	0.13384	0.105000	0.19272	-0.044000	0.12023	1.181000	0.42912	0.163000	0.16589	AAA		0.403	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		26	229	0	0	0	1	0	26	229				
SOWAHB	345079	broad.mit.edu	37	4	77817771	77817771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:77817771C>A	ENST00000334306.2	-	1	1231	c.1232G>T	c.(1231-1233)gGg>gTg	p.G411V		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	411																	GTCTTTGGGCCCACTGCTGCT	0.567																																						ENST00000334306.2																			0											c.(1231-1233)gGg>gTg		sosondowah ankyrin repeat domain family member B							60.0	68.0	65.0					4																	77817771		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817771C>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1232G>T	4.37:g.77817771C>A	ENSP00000334879:p.Gly411Val						p.G411V	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1231	-			411					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1232G>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352793	0.41700	.	.	ENSG00000186212	ENST00000334306	T	0.09911	2.93	5.05	3.29	0.37713	.	0.202733	0.24233	U	0.040340	T	0.17492	0.0420	L	0.34521	1.04	0.54753	D	0.999983	D	0.65815	0.995	P	0.61658	0.892	T	0.00862	-1.1536	10	0.66056	D	0.02	-6.4849	9.3874	0.38352	0.0:0.7746:0.1454:0.0801	.	411	A6NEL2	ANR56_HUMAN	V	411	ENSP00000334879:G411V	ENSP00000334879:G411V	G	-	2	0	ANKRD56	78036795	0.389000	0.25205	0.958000	0.39756	0.030000	0.12068	0.418000	0.21230	0.682000	0.31407	0.655000	0.94253	GGG		0.567	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		14	104	1	0	7.93312e-07	1	8.61068e-07	14	104				
CTAGE5	4253	broad.mit.edu	37	14	39782616	39782616	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39782616C>A	ENST00000280083.3	+	14	1580	c.1266C>A	c.(1264-1266)agC>agA	p.S422R	CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S957R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R			O15320	CTGE5_HUMAN	CTAGE family, member 5	422					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAAAGATCAGCCATGCCACTG	0.308																																						ENST00000553728.1																			0											c.(2869-2871)agC>agA									54.0	65.0	62.0					14																	39782616		2203	4290	6493	SO:0001583	missense	4253							g.chr14:39782616C>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1266C>A	14.37:g.39782616C>A	ENSP00000280083:p.Ser422Arg					CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R	p.S957R							18	3084	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2871C>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053479	0.55218	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.42513	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.97;0.98	5.34	-1.06	0.10002	.	.	.	.	.	T	0.51601	0.1684	M	0.79805	2.47	0.18873	N	0.999986	P;B;B;B;P;B	0.41313	0.696;0.409;0.27;0.409;0.745;0.409	B;B;B;B;P;B	0.48677	0.438;0.271;0.271;0.271;0.586;0.271	T	0.49679	-0.8914	8	.	.	.	.	9.2881	0.37769	0.0:0.2616:0.0:0.7384	.	384;427;422;422;393;410	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	R	957;410;342;384;393;422;427;422;347;422;393	ENSP00000452252:S957R;ENSP00000343897:S410R;ENSP00000450869:S342R;ENSP00000379468:S393R;ENSP00000339286:S422R;ENSP00000379462:S427R;ENSP00000280083:S422R;ENSP00000452562:S347R;ENSP00000343912:S422R;ENSP00000450449:S393R	.	S	+	3	2	CTAGE5;RP11-407N17.3	38852367	0.930000	0.31532	0.342000	0.25602	0.988000	0.76386	0.276000	0.18716	-0.047000	0.13423	0.650000	0.86243	AGC		0.308	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		6	72	1	0	1.12685e-05	1	1.21017e-05	6	72				
EIF2B3	8891	broad.mit.edu	37	1	45341334	45341334	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:45341334C>G	ENST00000360403.2	-	9	1135	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	337					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTGGTGGTTCTTCTGGACAG	0.507																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(1009-1011)Gaa>Caa		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							159.0	142.0	148.0					1																	45341334		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45341334C>G	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1009G>C	1.37:g.45341334C>G	ENSP00000353575:p.Glu337Gln					EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q	p.E337Q	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			9	1135	-	Acute lymphoblastic leukemia(166;0.155)		337					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1009G>C	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.738641|3.738641	0.69304|0.69304	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000360403;ENST00000372183|ENST00000439363	T;D|.	0.89617|.	0.59;-2.54|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.044947|.	0.85682|.	D|.	0.000000|.	T|T	0.71324|0.71324	0.3326|0.3326	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	P;B|.	0.49559|.	0.925;0.161|.	P;B|.	0.54544|.	0.755;0.127|.	T|T	0.68183|0.68183	-0.5476|-0.5476	10|5	0.16420|.	T|.	0.52|.	-15.6269|-15.6269	18.7825|18.7825	0.91939|0.91939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337|.	Q9NR50-2;Q9NR50|.	.;EI2BG_HUMAN|.	Q|N	337|157	ENSP00000353575:E337Q;ENSP00000361257:E337Q|.	ENSP00000353575:E337Q|.	E|K	-|-	1|3	0|2	EIF2B3|EIF2B3	45113921|45113921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	5.816000|5.816000	0.69222|0.69222	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.507	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		6	65	0	0	0	1	0	6	65				
DENND6A	201627	broad.mit.edu	37	3	57613942	57613942	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:57613942C>G	ENST00000311128.5	-	20	1896	c.1826G>C	c.(1825-1827)tGa>tCa	p.*609S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	0					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGGCAAATATCATGTCATGCC	0.438																																						ENST00000311128.5																			0											c.(1825-1827)tGa>tCa		DENN/MADD domain containing 6A							185.0	163.0	171.0					3																	57613942		2203	4300	6503	SO:0001578	stop_lost	201627							g.chr3:57613942C>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1826G>C	3.37:g.57613942C>G							p.*609S	NM_152678.2	NP_689891.1					20	1896	-								Q7Z5T4|Q8N235|Q8TEG8	Nonstop_Mutation	SNP	ENST00000311128.5	37	c.1826G>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539276	0.45176	.	.	ENSG00000174839	ENST00000311128	.	.	.	5.66	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.349	0.60591	0.0:0.9258:0.0:0.0742	.	.	.	.	S	609	.	.	X	-	2	2	FAM116A	57588982	1.000000	0.71417	0.956000	0.39512	0.992000	0.81027	4.679000	0.61649	1.348000	0.45733	0.655000	0.94253	TGA		0.438	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		10	99	0	0	0	1	0	10	99				
RBM4	5936	broad.mit.edu	37	11	66411036	66411036	+	Silent	SNP	G	G	A	rs373465062		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:66411036G>A	ENST00000409406.1	+	2	1305	c.528G>A	c.(526-528)ccG>ccA	p.P176P	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000408993.2_Silent_p.P176P|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Silent_p.P151P			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	176					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AAGAGTGTCCGATAGATCGTT	0.572																																						ENST00000409406.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(526-528)ccG>ccA		RNA binding motif protein 4		G	,,,,	0,4386		0,0,2193	72.0	79.0	77.0		,,453,,528	-1.6	0.9	11		77	1,8583	1.2+/-3.3	0,1,4291	no	intron,intron,coding-synonymous,intron,coding-synonymous	RBM4,RBM14-RBM4	NM_001198843.1,NM_001198844.1,NM_001198845.1,NM_001198846.1,NM_002896.3	,,,,	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,151/340,,176/365	66411036	1,12969	2193	4292	6485	SO:0001819	synonymous_variant	5936							g.chr11:66411036G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.528G>A	11.37:g.66411036G>A						RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Silent_p.P176P|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000514361.3_Silent_p.P151P|RBM4_ENST00000578778.1_Intron	p.P176P						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	1305	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.528G>A	CCDS41676.1																																																																																				0.572	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		5	66	0	0	0	1	0	5	66				
CEACAM1	634	broad.mit.edu	37	19	43025447	43025447	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:43025447C>G	ENST00000161559.6	-	4	1064	c.930G>C	c.(928-930)agG>agC	p.R310S	CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	310	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGACTGTGGTCCTGTTGCAGC	0.448																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(928-930)agG>agC		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						206.0	186.0	193.0					19																	43025447		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43025447C>G	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.930G>C	19.37:g.43025447C>G	ENSP00000161559:p.Arg310Ser					CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S	p.R310S	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	4	1064	-		Prostate(69;0.00682)	310			Ig-like C2-type 2.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.930G>C	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	7.036	0.561648	0.13498	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T	0.13657	3.27;3.27;3.27;3.27;3.27;2.57	5.09	-9.17	0.00691	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06600	0.0169	L	0.28740	0.885	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.24483	0.091;0.018;0.013;0.047;0.013;0.018;0.073;0.038;0.104	B;B;B;B;B;B;B;B;B	0.34385	0.136;0.029;0.038;0.113;0.109;0.078;0.042;0.078;0.181	T	0.41928	-0.9481	9	0.02654	T	1	.	4.0637	0.09851	0.1044:0.142:0.4829:0.2707	.	310;310;310;310;310;310;310;310;310	P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;CEAM1_HUMAN	S	310;310;337;270;310;310;310;270;310;310;310	ENSP00000161559:R310S;ENSP00000351165:R310S;ENSP00000244291:R310S;ENSP00000384709:R310S;ENSP00000384083:R310S;ENSP00000312184:R270S	ENSP00000161559:R310S	R	-	3	2	CEACAM1	47717287	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.233000	0.01204	-1.103000	0.03019	0.555000	0.69702	AGG		0.448	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		12	227	0	0	0	1	0	12	227				
KCNJ10	3766	broad.mit.edu	37	1	160012273	160012273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:160012273C>T	ENST00000368089.3	-	2	276	c.50G>A	c.(49-51)aGc>aAc	p.S17N	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	17					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TAGGGGCCGGCTTTCTGTCTG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(49-51)aGc>aAc		potassium inwardly-rectifying channel, subfamily J, member 10							75.0	69.0	71.0					1																	160012273		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012273C>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.50G>A	1.37:g.160012273C>T	ENSP00000357068:p.Ser17Asn						p.S17N	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	276	-	all_hematologic(112;0.093)		17					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.50G>A	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026772	0.35797	.	.	ENSG00000177807	ENST00000368089	D	0.88354	-2.37	5.17	4.25	0.50352	.	0.806182	0.11769	N	0.531333	T	0.65291	0.2677	N	0.08118	0	0.38274	D	0.942237	B	0.33694	0.421	B	0.26864	0.074	T	0.61768	-0.6995	10	0.32370	T	0.25	.	13.512	0.61517	0.0:0.8421:0.1579:0.0	.	17	P78508	IRK10_HUMAN	N	17	ENSP00000357068:S17N	ENSP00000357068:S17N	S	-	2	0	KCNJ10	158278897	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.391000	0.52530	1.399000	0.46721	0.591000	0.81541	AGC		0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		6	58	0	0	0	1	0	6	58				
OR4D11	219986	broad.mit.edu	37	11	59271520	59271520	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:59271520G>A	ENST00000313253.1	+	1	472	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACTCCATCGTGCAGATCTC	0.547																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(472-474)Gtg>Atg		olfactory receptor, family 4, subfamily D, member 11							220.0	189.0	200.0					11																	59271520		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271520G>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.472G>A	11.37:g.59271520G>A	ENSP00000320077:p.Val158Met						p.V158M	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	472	+			158						Missense_Mutation	SNP	ENST00000313253.1	37	c.472G>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174588	0.38413	.	.	ENSG00000176200	ENST00000313253	T	0.38560	1.13	5.29	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.314786	0.22480	N	0.059503	T	0.43656	0.1257	M	0.64260	1.97	0.34329	D	0.687431	P	0.37176	0.586	B	0.43123	0.409	T	0.56926	-0.7898	10	0.72032	D	0.01	-22.5887	7.2255	0.26012	0.159:0.1405:0.7005:0.0	.	158	Q8NGI4	OR4DB_HUMAN	M	158	ENSP00000320077:V158M	ENSP00000320077:V158M	V	+	1	0	OR4D11	59028096	0.007000	0.16637	0.943000	0.38184	0.920000	0.55202	0.798000	0.27014	0.632000	0.30432	0.557000	0.71058	GTG		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		15	151	0	0	0	1	0	15	151				
E4F1	1877	broad.mit.edu	37	16	2283182	2283182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:2283182G>T	ENST00000301727.4	+	7	1102	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352*|E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	352					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCTGGCCCCAGAGGTGGGGGC	0.652																																						ENST00000301727.4																			0				ovary(1)	1						c.(1054-1056)Gag>Tag		E4F transcription factor 1							47.0	53.0	51.0					16																	2283182		2195	4289	6484	SO:0001587	stop_gained	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2283182G>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1054G>T	16.37:g.2283182G>T	ENSP00000301727:p.Glu352*					E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352*	p.E352*	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			7	1102	+			352					A8K2R4|O00146	Nonsense_Mutation	SNP	ENST00000301727.4	37	c.1054G>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514253	0.85389	.	.	ENSG00000167967	ENST00000301727	.	.	.	5.31	5.31	0.75309	.	0.230342	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-33.101	17.7042	0.88304	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000301727:E352X	E	+	1	0	E4F1	2223183	1.000000	0.71417	0.960000	0.40013	0.262000	0.26303	6.372000	0.73123	2.768000	0.95171	0.561000	0.74099	GAG		0.652	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		10	90	1	0	0.000673444	1	0.000695095	10	90				
C17orf67	339210	broad.mit.edu	37	17	54893318	54893318	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs117984213	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:54893318G>A	ENST00000575658.1	-	0	1132				C17orf67_ENST00000397862.2_5'Flank|C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GACTCTGAGCGTTTTAGTAAT	0.423													G|||	21	0.00419329	0.0008	0.0115	5008	,	,		17683	0.0		0.0099	False		,,,				2504	0.002					ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7								chromosome 17 open reading frame 67																																						339210					extracellular region		g.chr17:54893318G>A	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.-75C>T	17.37:g.54893318G>A						C17orf67_ENST00000575658.1_De_novo_Start_OutOfFrame				Q0P5P2	CQ067_HUMAN			0	1133	-	Breast(9;2.49e-06)								Translation_Start_Site	SNP	ENST00000575658.1	37																																																																																						0.423	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		3	31	0	0	0	1	0	3	31				
ZNF214	7761	broad.mit.edu	37	11	7021140	7021140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7021140C>G	ENST00000278314.4	-	3	2089	c.1774G>C	c.(1774-1776)Gat>Cat	p.D592H	ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAATTATGATCAAATCCCTTA	0.333																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1774-1776)Gat>Cat		zinc finger protein 214							59.0	63.0	62.0					11																	7021140		2200	4292	6492	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021140C>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1774G>C	11.37:g.7021140C>G	ENSP00000278314:p.Asp592His					ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H	p.D592H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	2089	-			592					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1774G>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	4.966	0.179474	0.09443	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.60171	0.21;0.21	4.15	-0.905	0.10527	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.815621	0.10608	N	0.654778	T	0.39937	0.1097	N	0.12920	0.275	0.09310	N	1	P	0.36753	0.568	B	0.43575	0.424	T	0.33163	-0.9879	10	0.44086	T	0.13	.	3.9214	0.09245	0.1736:0.3405:0.0:0.4859	.	592	Q9UL59	ZN214_HUMAN	H	592	ENSP00000278314:D592H;ENSP00000445373:D592H	ENSP00000278314:D592H	D	-	1	0	ZNF214	6977716	0.000000	0.05858	0.002000	0.10522	0.898000	0.52572	-1.301000	0.02749	-0.145000	0.11294	0.555000	0.69702	GAT		0.333	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			9	56	0	0	0	1	0	9	56				
ITGB4	3691	broad.mit.edu	37	17	73738804	73738804	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:73738804G>A	ENST00000200181.3	+	25	3111	c.2924G>A	c.(2923-2925)gGc>gAc	p.G975D	ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D|ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	975					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)			GCCACCCTCGGCCGCCGCCTG	0.657																																						ENST00000200181.3																			0				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						c.(2923-2925)gGc>gAc		integrin, beta 4							44.0	37.0	39.0					17																	73738804		2202	4299	6501	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.chr17:73738804G>A		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.2924G>A	17.37:g.73738804G>A	ENSP00000200181:p.Gly975Asp					ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D	p.G975D	NM_000213.3	NP_000204.3	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)		25	3111	+	all_cancers(13;1.5e-07)		975					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2924G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414919	0.42817	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.79940	-1.32;-1.32;-1.32	5.34	5.34	0.76211	.	0.064498	0.64402	D	0.000008	D	0.84763	0.5544	L	0.29908	0.895	0.54753	D	0.999987	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.75020	0.985;0.953;0.965	D	0.85349	0.1100	10	0.49607	T	0.09	.	19.1087	0.93309	0.0:0.0:1.0:0.0	.	975;975;975	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	D	975	ENSP00000200181:G975D;ENSP00000344079:G975D;ENSP00000400217:G975D	ENSP00000200181:G975D	G	+	2	0	ITGB4	71250399	1.000000	0.71417	0.976000	0.42696	0.926000	0.56050	4.559000	0.60796	2.546000	0.85860	0.556000	0.70494	GGC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			3	33	0	0	0	1	0	3	33				
DOCK11	139818	broad.mit.edu	37	X	117758580	117758580	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:117758580C>G	ENST00000276202.7	+	32	3613	c.3550C>G	c.(3550-3552)Cga>Gga	p.R1184G	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1184G	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1184					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTAGCAGGTCGAGATACCTT	0.358																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3550-3552)Cga>Gga		dedicator of cytokinesis 11							170.0	158.0	162.0					X																	117758580		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117758580C>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3550C>G	X.37:g.117758580C>G	ENSP00000276202:p.Arg1184Gly					DOCK11_ENST00000276202.7_Missense_Mutation_p.R1184G	p.R1184G			Q5JSL3	DOC11_HUMAN			32	3624	+			1184					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3550C>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544196	0.45280	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18502	2.21;2.21	5.53	4.65	0.58169	.	0.283082	0.33792	N	0.004556	T	0.15176	0.0366	L	0.49126	1.545	0.36599	D	0.87454	P;P	0.43094	0.799;0.799	B;B	0.38264	0.269;0.269	T	0.17868	-1.0355	10	0.23302	T	0.38	-7.4028	10.6932	0.45884	0.148:0.7127:0.1394:0.0	.	1184;1184	A6NIW2;Q5JSL3	.;DOC11_HUMAN	G	1184	ENSP00000276204:R1184G;ENSP00000276202:R1184G	ENSP00000276202:R1184G	R	+	1	2	DOCK11	117642608	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	2.288000	0.43514	1.190000	0.43042	0.594000	0.82650	CGA		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		20	194	0	0	0	1	0	20	194				
TBC1D1	23216	broad.mit.edu	37	4	38016216	38016216	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:38016216G>A	ENST00000261439.4	+	3	859	c.504G>A	c.(502-504)acG>acA	p.T168T	TBC1D1_ENST00000508802.1_Silent_p.T168T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	168					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGACGACACGTTTTCCAAGA	0.617																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(502-504)acG>acA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							106.0	107.0	107.0					4																	38016216		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016216G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.504G>A	4.37:g.38016216G>A						TBC1D1_ENST00000508802.1_Silent_p.T168T	p.T168T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			3	859	+			168					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.504G>A	CCDS33972.1																																																																																				0.617	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		11	125	0	0	0	1	0	11	125				
PCDH1	5097	broad.mit.edu	37	5	141233932	141233932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:141233932G>C	ENST00000287008.3	-	5	3536	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCATGTGTCAGAGTGGCCAAA	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(3388-3390)tCt>tGt		protocadherin 1							36.0	29.0	31.0					5																	141233932		2203	4297	6500	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233932G>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3389C>G	5.37:g.141233932G>C	ENSP00000287008:p.Ser1130Cys					PCDH1_ENST00000503492.1_3'UTR	p.S1130C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3536	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	0					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3389C>G	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186722	0.57909	.	.	ENSG00000156453	ENST00000287008	D	0.81739	-1.53	4.35	4.35	0.52113	.	0.000000	0.38548	U	0.001655	D	0.89118	0.6624	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90725	0.4638	10	0.87932	D	0	.	14.7092	0.69215	0.0:0.0:1.0:0.0	.	1130	Q08174-2	.	C	1130	ENSP00000287008:S1130C	ENSP00000287008:S1130C	S	-	2	0	PCDH1	141214116	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.294000	0.96088	2.127000	0.65507	0.313000	0.20887	TCT		0.607	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		3	25	0	0	0	1	0	3	25				
SLC17A4	10050	broad.mit.edu	37	6	25762243	25762243	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:25762243G>A	ENST00000377905.4	+	2	172	c.53G>A	c.(52-54)gGc>gAc	p.G18D	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	18					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.G18D(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCAGTGATGGCAATTTAAAC	0.418																																						ENST00000377905.4																			1	Substitution - Missense(1)	p.G18D(1)	large_intestine(1)	breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(52-54)gGc>gAc		solute carrier family 17, member 4							83.0	76.0	79.0					6																	25762243		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25762243G>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.53G>A	6.37:g.25762243G>A	ENSP00000367137:p.Gly18Asp					SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D	p.G18D	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			2	172	+			18					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.53G>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	G	8.496	0.863118	0.17250	.	.	ENSG00000146039	ENST00000377905;ENST00000439485	T;T	0.74209	-0.06;-0.82	4.15	-0.852	0.10713	Major facilitator superfamily domain, general substrate transporter (1);	2.313570	0.01865	N	0.036852	T	0.27559	0.0677	N	0.08118	0	0.09310	N	0.999999	B;B	0.26081	0.141;0.002	B;B	0.22753	0.041;0.003	T	0.14643	-1.0465	10	0.12103	T	0.63	.	7.5399	0.27731	0.5058:0.0:0.4942:0.0	.	18;18	E7EPE8;Q9Y2C5	.;S17A4_HUMAN	D	18	ENSP00000367137:G18D;ENSP00000391345:G18D	ENSP00000367137:G18D	G	+	2	0	SLC17A4	25870222	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.350000	0.07721	-0.188000	0.10499	0.557000	0.71058	GGC		0.418	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			3	28	0	0	0	1	0	3	28				
EXPH5	23086	broad.mit.edu	37	11	108384641	108384641	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:108384641T>A	ENST00000265843.4	-	6	1703	c.1593A>T	c.(1591-1593)gaA>gaT	p.E531D	EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	531					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAAAATGATTCCCAGTGTT	0.413																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1591-1593)gaA>gaT		exophilin 5							71.0	72.0	71.0					11																	108384641		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384641T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1593A>T	11.37:g.108384641T>A	ENSP00000265843:p.Glu531Asp					EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR	p.E531D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1703	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	531					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1593A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	9.730	1.162093	0.21538	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04119	4.29;4.21;4.06;4.29;4.14;3.7	5.82	0.263	0.15602	.	0.972438	0.08470	N	0.941061	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	P	0.36249	0.545	B	0.32677	0.15	T	0.46373	-0.9196	10	0.17832	T	0.49	0.0162	4.7782	0.13189	0.0:0.3543:0.1617:0.484	.	531	Q8NEV8	EXPH5_HUMAN	D	531;455;343;524;375;455;343	ENSP00000265843:E531D;ENSP00000391966:E455D;ENSP00000411390:E343D;ENSP00000432546:E524D;ENSP00000432683:E455D;ENSP00000446434:E343D	ENSP00000265843:E531D	E	-	3	2	EXPH5	107889851	0.000000	0.05858	0.005000	0.12908	0.787000	0.44495	-0.291000	0.08343	0.033000	0.15463	0.383000	0.25322	GAA		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		11	84	0	0	0	1	0	11	84				
LAMA1	284217	broad.mit.edu	37	18	6983142	6983142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:6983142C>A	ENST00000389658.3	-	40	5845	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1918	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGGCCAGTTCCTCCGATTCT	0.498																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5752-5754)Gaa>Taa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110.0	102.0	105.0					18																	6983142		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6983142C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5752G>T	18.37:g.6983142C>A	ENSP00000374309:p.Glu1918*						p.E1918*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			40	5845	-		Colorectal(10;0.172)	1918			Domain II and I.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.5752G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	45	11.702966	0.99593	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.87	-0.79	0.10932	.	1.881790	0.02233	N	0.065082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	1.7149	0.02899	0.1249:0.2757:0.1302:0.4692	.	.	.	.	X	1918	.	ENSP00000374309:E1918X	E	-	1	0	LAMA1	6973142	0.005000	0.15991	0.001000	0.08648	0.220000	0.24768	1.327000	0.33746	-0.355000	0.08199	-0.312000	0.09012	GAA		0.498	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	65	1	0	0.000274275	1	0.000288462	7	65				
DIAPH3	81624	broad.mit.edu	37	13	60686226	60686226	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:60686226G>A	ENST00000400324.4	-	3	528	c.308C>T	c.(307-309)tCa>tTa	p.S103L	DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	103					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGCTGCTGAGCAATCACT	0.408																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(307-309)tCa>tTa		diaphanous-related formin 3							198.0	184.0	188.0					13																	60686226		1854	4119	5973	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60686226G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.308C>T	13.37:g.60686226G>A	ENSP00000383178:p.Ser103Leu					DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L	p.S103L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	3	528	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	103					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.308C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	7.331	0.619026	0.14129	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.85088	-1.55;-1.55;-1.56;-1.94;-1.53	5.82	4.97	0.65823	.	0.356017	0.26499	N	0.024037	T	0.71316	0.3325	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39831	0.483;0.544;0.69	B;B;B	0.36666	0.057;0.077;0.23	T	0.61212	-0.7108	10	0.11485	T	0.65	.	9.9346	0.41543	0.0754:0.1376:0.787:0.0	.	92;92;103	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	L	103;103;92;92;92;92;103;103	ENSP00000383178:S103L;ENSP00000383184:S103L;ENSP00000367141:S92L;ENSP00000383174:S92L;ENSP00000267215:S103L	ENSP00000267215:S103L	S	-	2	0	DIAPH3	59584227	0.969000	0.33509	0.059000	0.19551	0.068000	0.16541	3.346000	0.52190	2.760000	0.94817	0.655000	0.94253	TCA		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		15	175	0	0	0	1	0	15	175				
C7orf31	136895	broad.mit.edu	37	7	25176366	25176366	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:25176366C>T	ENST00000409280.1	-	10	1306	c.998G>A	c.(997-999)gGa>gAa	p.G333E	C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	333										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGCAATTCGTCCTTCCAACGG	0.433																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(997-999)gGa>gAa		chromosome 7 open reading frame 31							111.0	114.0	113.0					7																	25176366		2203	4299	6502	SO:0001583	missense	136895							g.chr7:25176366C>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.998G>A	7.37:g.25176366C>T	ENSP00000386604:p.Gly333Glu					C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E	p.G333E			Q8N865	CG031_HUMAN			10	1306	-			333					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.998G>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612218	0.66672	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.29655	1.56;1.56	5.84	5.84	0.93424	.	0.155509	0.45606	D	0.000346	T	0.57330	0.2046	M	0.72894	2.215	0.42527	D	0.993027	D	0.89917	1.0	D	0.97110	1.0	T	0.58808	-0.7571	10	0.87932	D	0	-34.9631	17.9264	0.88985	0.0:1.0:0.0:0.0	.	333	Q8N865	CG031_HUMAN	E	333	ENSP00000386604:G333E;ENSP00000283905:G333E	ENSP00000283905:G333E	G	-	2	0	C7orf31	25142891	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.010000	0.64004	2.758000	0.94735	0.655000	0.94253	GGA		0.433	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		11	162	0	0	0	1	0	11	162				
ZNF266	10781	broad.mit.edu	37	19	9524481	9524481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:9524481G>C	ENST00000592904.1	-	5	3196	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D			Q14584	ZN266_HUMAN	zinc finger protein 266	374					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(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCTCCACTGTGAGTTCGTGCA	0.448																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(1120-1122)Cac>Gac		zinc finger protein 266							73.0	75.0	74.0					19																	9524481		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524481G>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1120C>G	19.37:g.9524481G>C	ENSP00000466714:p.His374Asp					ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D|ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D	p.H374D			Q14584	ZN266_HUMAN			5	3196	-			374					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.1120C>G	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051365	0.93740	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.67698	-0.28;-0.28	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85839	0.5790	H	0.96048	3.76	0.32478	N	0.541851	D	0.89917	1.0	D	0.91635	0.999	D	0.88303	0.2951	9	0.87932	D	0	.	11.1769	0.48606	0.0:0.0:1.0:0.0	.	374	Q14584	ZN266_HUMAN	D	374	ENSP00000354680:H374D;ENSP00000355047:H374D	ENSP00000355047:H374D	H	-	1	0	ZNF266	9385481	1.000000	0.71417	0.065000	0.19835	0.915000	0.54546	7.858000	0.86971	1.727000	0.51537	0.555000	0.69702	CAC		0.448	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			10	103	0	0	0	1	0	10	103				
XIRP2	129446	broad.mit.edu	37	2	168100981	168100981	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:168100981G>A	ENST00000409195.1	+	9	3168	c.3079G>A	c.(3079-3081)Gac>Aac	p.D1027N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D805N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1027N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	852					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGCCCATTGACCAGTTTGA	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3079-3081)Gac>Aac		xin actin-binding repeat containing 2							63.0	58.0	60.0					2																	168100981		1840	4084	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100981G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3079G>A	2.37:g.168100981G>A	ENSP00000386840:p.Asp1027Asn					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D805N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1027N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.D1027N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3168	+			852					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3079G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287172	0.80803	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.52057	0.68;0.68;0.68	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75408	-0.3328	10	0.87932	D	0	-18.7597	19.4349	0.94788	0.0:0.0:1.0:0.0	.	852;852;805	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1027;1027;805	ENSP00000386840:D1027N;ENSP00000295237:D1027N;ENSP00000387255:D805N	ENSP00000295237:D1027N	D	+	1	0	XIRP2	167809227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GAC		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	66	0	0	0	1	0	5	66				
CT47B1	643311	broad.mit.edu	37	X	120009419	120009419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:120009419C>T	ENST00000371311.3	-	1	360	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	36										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGGAGTCGCCGCCCTCCTGG	0.731																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(106-108)Ggc>Agc		cancer/testis antigen family 47, member B1							3.0	4.0	4.0					X																	120009419		551	1366	1917	SO:0001583	missense	643311							g.chrX:120009419C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.106G>A	X.37:g.120009419C>T	ENSP00000360360:p.Gly36Ser						p.G36S	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	360	-			36					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.106G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131291	0.37630	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.19	-4.39	0.03611	.	2.279350	0.02596	N	0.100503	T	0.28928	0.0718	N	0.17082	0.46	0.09310	N	1	D	0.76494	0.999	D	0.63381	0.914	T	0.28427	-1.0044	9	0.36615	T	0.2	.	0.5673	0.00689	0.1992:0.3246:0.1581:0.3181	.	36	P0C2W7	CT47B_HUMAN	S	36	.	ENSP00000360360:G36S	G	-	1	0	CT47B1	119893447	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.366000	0.02585	-2.168000	0.00778	0.171000	0.16805	GGC		0.731	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		10	79	0	0	0	1	0	10	79				
G6PC2	57818	broad.mit.edu	37	2	169757994	169757994	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:169757994G>C	ENST00000375363.3	+	1	245	c.153G>C	c.(151-153)caG>caC	p.Q51H	G6PC2_ENST00000429379.2_Missense_Mutation_p.Q51H|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.Q51H	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	51					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AATTTAATCAGACAGTTGGAA	0.313																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(151-153)caG>caC		glucose-6-phosphatase, catalytic, 2							89.0	91.0	90.0					2																	169757994		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169757994G>C	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.153G>C	2.37:g.169757994G>C	ENSP00000364512:p.Gln51His					SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.Q51H|G6PC2_ENST00000429379.2_Missense_Mutation_p.Q51H	p.Q51H	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			1	245	+			51					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.153G>C	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.646916	0.29246	.	.	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.82984	-0.8;-0.8;-1.67	5.62	3.78	0.43462	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.263285	0.30410	N	0.009685	T	0.73418	0.3584	L	0.44542	1.39	0.30551	N	0.765451	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.66614	-0.5879	10	0.35671	T	0.21	7.0E-4	6.1912	0.20526	0.153:0.182:0.665:0.0	.	51;51	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	H	51	ENSP00000364512:Q51H;ENSP00000396939:Q51H;ENSP00000392183:Q51H	ENSP00000282075:Q51H	Q	+	3	2	G6PC2	169466240	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.969000	0.29370	1.329000	0.45376	0.655000	0.94253	CAG		0.313	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		6	49	0	0	0	1	0	6	49				
C15orf40	123207	broad.mit.edu	37	15	83679041	83679041	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83679041G>A	ENST00000513601.2	-	2	193	c.186C>T	c.(184-186)tgC>tgT	p.C62C	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Silent_p.C35C|C15orf40_ENST00000451195.3_Silent_p.C62C|C15orf40_ENST00000538348.2_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	62										large_intestine(3)|lung(2)|skin(1)	6						CTATGGTGACGCATCCTTTAG	0.483																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(103-105)tgC>tgT		chromosome 15 open reading frame 40							232.0	203.0	212.0					15																	83679041		2203	4300	6503	SO:0001819	synonymous_variant	123207							g.chr15:83679041G>A	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.186C>T	15.37:g.83679041G>A						C15orf40_ENST00000538348.2_Silent_p.C62C|C15orf40_ENST00000513601.2_Silent_p.C62C|C15orf40_ENST00000451195.3_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA	p.C35C	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN			2	219	-			35					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	ENST00000513601.2	37	c.105C>T	CCDS32312.2																																																																																				0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		15	139	0	0	0	1	0	15	139				
ZNF530	348327	broad.mit.edu	37	19	58118566	58118566	+	Missense_Mutation	SNP	G	G	A	rs138050368	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:58118566G>A	ENST00000332854.6	+	3	1893	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R558H(1)		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)		TCTTTTACCCGCAAAAATCAC	0.453													G|||	6	0.00119808	0.0045	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.0					ENST00000332854.6																			1	Substitution - Missense(1)	p.R558H(1)	kidney(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(1672-1674)cGc>cAc		zinc finger protein 530		G	HIS/ARG	12,4394	19.1+/-41.9	0,12,2191	69.0	69.0	69.0		1673	-4.2	0.0	19	dbSNP_134	69	0,8600		0,0,4300	no	missense	ZNF530	NM_020880.3	29	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	benign	558/600	58118566	12,12994	2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118566G>A	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.1673G>A	19.37:g.58118566G>A	ENSP00000332861:p.Arg558His					ZNF530_ENST00000597864.1_Intron	p.R558H	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1893	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	558					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1673G>A	CCDS12955.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.913	0.352525	0.11182	0.002724	0.0	ENSG00000183647	ENST00000332854	T	0.07327	3.2	2.13	-4.25	0.03766	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	L	0.31207	0.915	0.09310	N	1	B	0.24963	0.115	B	0.22152	0.038	T	0.42378	-0.9455	9	0.22706	T	0.39	.	5.3243	0.15898	0.4914:0.1507:0.358:0.0	.	558	Q6P9A1	ZN530_HUMAN	H	558	ENSP00000332861:R558H	ENSP00000332861:R558H	R	+	2	0	ZNF530	62810378	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-7.619000	0.00033	-1.169000	0.02772	-0.385000	0.06624	CGC		0.453	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		8	87	0	0	0	1	0	8	87				
PSMC2	5701	broad.mit.edu	37	7	102996176	102996176	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:102996176G>C	ENST00000435765.1	+	5	637	c.226G>C	c.(226-228)Gca>Cca	p.A76P	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GGCCCCACCAGCACTCTGGGA	0.443																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(226-228)Gca>Cca		proteasome (prosome, macropain) 26S subunit, ATPase, 2							85.0	83.0	84.0					7																	102996176		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996176G>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.226G>C	7.37:g.102996176G>C	ENSP00000391211:p.Ala76Pro					PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron	p.A76P	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			5	637	+			76					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.226G>C	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010196	0.93346	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.94650	-3.48;-3.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	L	0.60455	1.87	0.80722	D	1	P	0.44478	0.836	B	0.42555	0.391	D	0.93041	0.6457	10	0.38643	T	0.18	-18.23	19.332	0.94295	0.0:0.0:1.0:0.0	.	76	P35998	PRS7_HUMAN	P	76	ENSP00000391211:A76P;ENSP00000292644:A76P	ENSP00000292644:A76P	A	+	1	0	PSMC2	102783412	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.709000	0.98729	2.646000	0.89796	0.555000	0.69702	GCA		0.443	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		6	44	0	0	0	1	0	6	44				
MLH1	4292	broad.mit.edu	37	3	37059048	37059048	+	Missense_Mutation	SNP	C	C	T	rs63749950		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:37059048C>T	ENST00000231790.2	+	10	1058	c.842C>T	c.(841-843)gCa>gTa	p.A281V	MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	281			Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACAGTGTATGCAGCCTATTTG	0.428		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CM076306	MLH1	M		c.(841-843)gCa>gTa	Mismatch excision repair (MMR)	mutL homolog 1							229.0	202.0	211.0					3																	37059048		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37059048C>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.842C>T	3.37:g.37059048C>T	ENSP00000231790:p.Ala281Val					MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V	p.A281V	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			10	1058	+			281		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.842C>T	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092865|4.092865	0.76756|0.76756	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	D;D;D;D;D;D;D|.	0.81659|.	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|.	5.35|5.35	4.47|4.47	0.54385|0.54385	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);|.	0.168594|.	0.52532|.	D|.	0.000066|.	T|.	0.77432|.	0.4129|.	M|M	0.85710|0.85710	2.77|2.77	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B|.	0.41041|.	0.736;0.314;0.314|.	P;B;B|.	0.46026|.	0.501;0.248;0.248|.	T|.	0.80056|.	-0.1542|.	10|.	0.72032|.	D|.	0.01|.	-15.2679|-15.2679	13.4218|13.4218	0.61003|0.61003	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	rs63749950|rs63749950	183;281;281|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	V|X	281;247;247;145;40;40;40;183;40;40|273	ENSP00000231790:A281V;ENSP00000402667:A40V;ENSP00000443665:A40V;ENSP00000398272:A40V;ENSP00000402564:A183V;ENSP00000398392:A40V;ENSP00000444286:A40V|.	ENSP00000231790:A281V|.	A|Q	+|+	2|1	0|0	MLH1|MLH1	37034052|37034052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.784000|5.784000	0.68990|0.68990	2.501000|2.501000	0.84356|0.84356	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.428	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		7	85	0	0	0	1	0	7	85				
SVEP1	79987	broad.mit.edu	37	9	113275247	113275247	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:113275247A>G	ENST00000401783.2	-	5	1598	c.1262T>C	c.(1261-1263)cTa>cCa	p.L421P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	421	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCATTGGGTAGACATAAGAT	0.433																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1261-1263)cTa>cCa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							115.0	108.0	111.0					9																	113275247		1943	4151	6094	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275247A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1262T>C	9.37:g.113275247A>G	ENSP00000384917:p.Leu421Pro					SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P	p.L421P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			5	1598	-			421			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1262T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175698	0.57692	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;T;D	0.97455	-4.39;-4.39;-0.21;-4.39	5.99	-1.76	0.08006	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.248480	0.41194	D	0.000934	D	0.97340	0.9130	M	0.86805	2.84	0.58432	D	0.999999	P;P;P;P	0.50819	0.939;0.939;0.917;0.874	P;P;P;P	0.52386	0.697;0.697;0.677;0.466	D	0.95860	0.8882	10	0.38643	T	0.18	.	14.7133	0.69249	0.1943:0.0:0.0:0.8057	.	421;421;421;421	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	P	421;398;421;398	ENSP00000384917:L421P;ENSP00000363593:L398P;ENSP00000304118:L421P;ENSP00000363585:L398P	ENSP00000304118:L421P	L	-	2	0	SVEP1	112315068	1.000000	0.71417	0.969000	0.41365	0.966000	0.64601	3.479000	0.53165	-0.143000	0.11334	0.533000	0.62120	CTA		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	58	0	0	0	1	0	9	58				
MCM3AP	8888	broad.mit.edu	37	21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr21:47666772G>A	ENST00000397708.1	-	22	4573	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.7_ENST00000444966.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1440					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4318-4320)gCc>gTc		minichromosome maintenance complex component 3 associated protein							92.0	89.0	90.0					21																	47666772		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666772G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4319C>T	21.37:g.47666772G>A	ENSP00000380820:p.Ala1440Val					MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA	p.A1440V			O60318	MCM3A_HUMAN			22	4573	-	Breast(49;0.112)		1440					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4319C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.111999	0.20795	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03635	3.86;3.86	5.68	3.89	0.44902	.	0.325201	0.36409	N	0.002611	T	0.03651	0.0104	L	0.36672	1.1	0.29936	N	0.821522	B	0.14012	0.009	B	0.14023	0.01	T	0.16394	-1.0404	10	0.44086	T	0.13	-9.6538	7.4446	0.27203	0.1464:0.0:0.6886:0.165	.	1440	O60318	MCM3A_HUMAN	V	1440	ENSP00000380820:A1440V;ENSP00000291688:A1440V	ENSP00000291688:A1440V	A	-	2	0	MCM3AP	46491200	1.000000	0.71417	0.762000	0.31397	0.065000	0.16274	1.780000	0.38634	0.782000	0.33613	0.650000	0.86243	GCC		0.577	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		13	138	0	0	0	1	0	13	138				
JPH1	56704	broad.mit.edu	37	8	75227552	75227552	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:75227552G>T	ENST00000342232.4	-	2	723	c.683C>A	c.(682-684)tCc>tAc	p.S228Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	228	Ser-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGACTTGGATTCGGACTT	0.577																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(682-684)tCc>tAc		junctophilin 1							73.0	79.0	77.0					8																	75227552		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227552G>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.683C>A	8.37:g.75227552G>T	ENSP00000344488:p.Ser228Tyr						p.S228Y	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	723	-	Breast(64;0.00576)		228			Ser-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.683C>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977012	0.53720	.	.	ENSG00000104369	ENST00000342232	T	0.66099	-0.19	4.89	4.01	0.46588	.	0.056646	0.64402	N	0.000001	T	0.64170	0.2574	M	0.78456	2.415	0.80722	D	1	B	0.20887	0.049	B	0.17433	0.018	T	0.66472	-0.5915	10	0.72032	D	0.01	.	14.6516	0.68800	0.0:0.0:0.8535:0.1465	.	228	Q9HDC5	JPH1_HUMAN	Y	228	ENSP00000344488:S228Y	ENSP00000344488:S228Y	S	-	2	0	JPH1	75390107	1.000000	0.71417	0.999000	0.59377	0.388000	0.30384	9.587000	0.98229	1.247000	0.43917	-0.182000	0.12963	TCC		0.577	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			11	109	1	0	0.00136819	1	0.00140742	11	109				
IGHG4	3503	broad.mit.edu	37	14	106090882	106090882	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:106090882G>A	ENST00000390543.2	-	0	914							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCATCACGGAGCATGAGAAGA	0.617																																						ENST00000390543.2																			0																				149.0	214.0	193.0					14																	106090882		2053	4222	6275			3503							g.chr14:106090882G>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090882G>A														0	914	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.617	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		4	62	0	0	0	1	0	4	62				
LRP1B	53353	broad.mit.edu	37	2	141625775	141625775	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:141625775C>T	ENST00000389484.3	-	26	5198	c.4227G>A	c.(4225-4227)atG>atA	p.M1409I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1409					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCACCACTCATAGAGGCAG	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4225-4227)atG>atA		low density lipoprotein receptor-related protein 1B							98.0	93.0	95.0					2																	141625775		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625775C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4227G>A	2.37:g.141625775C>T	ENSP00000374135:p.Met1409Ile	TSP Lung(27;0.18)					p.M1409I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5198	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1409					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4227G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254502	0.80135	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96265	-3.96;-3.96	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	M	0.94063	3.49	0.80722	D	1	P;D	0.59357	0.831;0.985	P;D	0.72338	0.643;0.977	D	0.99170	1.0864	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	592;1409	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	I	1409;1347;554	ENSP00000374135:M1409I;ENSP00000413239:M554I	ENSP00000374135:M1409I	M	-	3	0	LRP1B	141342245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.723000	0.84788	2.770000	0.95276	0.655000	0.94253	ATG		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	90	0	0	0	1	0	6	90				
ITPKB	3707	broad.mit.edu	37	1	226829801	226829801	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226829801T>C	ENST00000272117.3	-	4	2271	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	ITPKB_ENST00000429204.1_Missense_Mutation_p.K758E			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	758					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTCCGGGCCTTCGTGAGCTCC	0.647																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(2272-2274)Aag>Gag		inositol-trisphosphate 3-kinase B							109.0	111.0	110.0					1																	226829801		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226829801T>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2272A>G	1.37:g.226829801T>C	ENSP00000272117:p.Lys758Glu					ITPKB_ENST00000272117.3_Missense_Mutation_p.K758E	p.K758E	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			5	2599	-		Prostate(94;0.0773)	758					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2272A>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291795	0.80914	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.11604	2.76;2.76	5.8	4.65	0.58169	.	0.044245	0.85682	D	0.000000	T	0.36248	0.0960	M	0.88640	2.97	0.48087	D	0.999587	D	0.63046	0.992	D	0.66497	0.944	T	0.30736	-0.9968	10	0.62326	D	0.03	-32.1863	12.221	0.54433	0.1277:0.0:0.0:0.8723	.	758	P27987	IP3KB_HUMAN	E	758	ENSP00000272117:K758E;ENSP00000411152:K758E	ENSP00000272117:K758E	K	-	1	0	ITPKB	224896424	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	6.013000	0.70776	0.980000	0.38523	0.528000	0.53228	AAG		0.647	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		8	113	0	0	0	1	0	8	113				
FHOD1	29109	broad.mit.edu	37	16	67272176	67272176	+	Missense_Mutation	SNP	G	G	A	rs372756034		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:67272176G>A	ENST00000258201.4	-	5	723	c.476C>T	c.(475-477)tCa>tTa	p.S159L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	159	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGCCCCTCTGAATGCACAAA	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(475-477)tCa>tTa		formin homology 2 domain containing 1		G	LEU/SER	0,4396		0,0,2198	72.0	64.0	67.0		476	4.9	0.0	16		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	FHOD1	NM_013241.2	145	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	159/1165	67272176	1,12995	2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272176G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.476C>T	16.37:g.67272176G>A	ENSP00000258201:p.Ser159Leu					FHOD1_ENST00000567687.1_Intron	p.S159L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	5	723	-		Ovarian(137;0.0563)	159			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.476C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609922	0.28712	0.0	1.16E-4	ENSG00000135723	ENST00000258201	T	0.25912	1.77	4.88	4.88	0.63580	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.076416	0.56097	D	0.000040	T	0.10766	0.0263	N	0.13098	0.295	0.80722	D	1	B	0.32507	0.373	B	0.25759	0.063	T	0.10800	-1.0614	10	0.06236	T	0.91	.	8.6602	0.34088	0.1097:0.0:0.8903:0.0	.	159	Q9Y613	FHOD1_HUMAN	L	159	ENSP00000258201:S159L	ENSP00000258201:S159L	S	-	2	0	FHOD1	65829677	1.000000	0.71417	0.020000	0.16555	0.462000	0.32619	4.834000	0.62774	2.258000	0.74832	0.561000	0.74099	TCA		0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			7	39	0	0	0	1	0	7	39				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	34	0	0	0	1	0	3	34				
GDPGP1	390637	broad.mit.edu	37	15	90784558	90784558	+	Silent	SNP	C	C	A	rs147221532	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:90784558C>A	ENST00000558017.1	+	4	838	c.418C>A	c.(418-420)Cgg>Agg	p.R140R	GDPGP1_ENST00000329600.6_Silent_p.R140R	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	140					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										CCGTTTGCACCGGGAGCCTGA	0.602																																						ENST00000558017.1																			0											c.(418-420)Cgg>Agg		GDP-D-glucose phosphorylase 1							94.0	91.0	92.0					15																	90784558		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784558C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.418C>A	15.37:g.90784558C>A						GDPGP1_ENST00000329600.6_Silent_p.R140R	p.R140R	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	838	+			140						Silent	SNP	ENST00000558017.1	37	c.418C>A	CCDS32327.1																																																																																				0.602	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		13	94	1	0	0.00010058	1	0.000106517	13	94				
ANKRD10	55608	broad.mit.edu	37	13	111563113	111563113	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:111563113T>C	ENST00000267339.2	-	2	349	c.215A>G	c.(214-216)gAg>gGg	p.E72G	ANKRD10_ENST00000375758.5_Missense_Mutation_p.E72G|ANKRD10_ENST00000489973.2_5'Flank|ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	72										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CACTAAGCACTCCAACTTCGA	0.478																																						ENST00000375758.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(214-216)gAg>gGg		ankyrin repeat domain 10							92.0	77.0	82.0					13																	111563113		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111563113T>C	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.215A>G	13.37:g.111563113T>C	ENSP00000267339:p.Glu72Gly					ANKRD10_ENST00000267339.2_Missense_Mutation_p.E72G|ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G	p.E72G			Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		2	349	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		72					Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.215A>G	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034221	0.75617	.	.	ENSG00000088448	ENST00000267339;ENST00000375758;ENST00000310847	T;T;T	0.73575	-0.58;-0.76;-0.76	5.75	5.75	0.90469	Ankyrin repeat-containing domain (4);	0.044888	0.85682	D	0.000000	D	0.82568	0.5065	L	0.49126	1.545	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.998	P;D;D	0.69479	0.871;0.964;0.947	D	0.84029	0.0358	10	0.66056	D	0.02	-16.3284	16.0519	0.80769	0.0:0.0:0.0:1.0	.	72;72;72	Q8IUW1;Q9NXR5-2;Q9NXR5	.;.;ANR10_HUMAN	G	72	ENSP00000267339:E72G;ENSP00000364911:E72G;ENSP00000312534:E72G	ENSP00000267339:E72G	E	-	2	0	ANKRD10	110361114	1.000000	0.71417	0.998000	0.56505	0.292000	0.27327	7.608000	0.82898	2.196000	0.70406	0.533000	0.62120	GAG		0.478	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1			6	59	0	0	0	1	0	6	59				
HBS1L	10767	broad.mit.edu	37	6	135363201	135363201	+	Missense_Mutation	SNP	T	T	C	rs199530029		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135363201T>C	ENST00000367837.5	-	3	379	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	58					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)		CAGATCTTCATAATCATATTC	0.358																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(172-174)tAt>tGt		HBS1-like (S. cerevisiae)							81.0	79.0	80.0					6																	135363201		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135363201T>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.173A>G	6.37:g.135363201T>C	ENSP00000356811:p.Tyr58Cys					HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR	p.Y58C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	3	379	-	Colorectal(23;0.221)		58					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.173A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980549	0.34942	.	.	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000314674;ENST00000524715;ENST00000529882;ENST00000367822;ENST00000367820	T;T	0.64438	-0.07;-0.1	5.76	3.18	0.36537	Domain of unknown function DUF1916 (2);	1.582040	0.03572	N	0.228813	T	0.47673	0.1458	M	0.66939	2.045	0.80722	D	1	B;B	0.32918	0.39;0.001	B;B	0.34722	0.188;0.002	T	0.54761	-0.8245	10	0.51188	T	0.08	-19.9748	7.3304	0.26580	0.0:0.0719:0.2712:0.6569	.	58;58	Q9Y450-2;Q9Y450	.;HBS1L_HUMAN	C	58;58;58;36;73;58;58	ENSP00000356811:Y58C;ENSP00000389826:Y58C	ENSP00000323566:Y58C	Y	-	2	0	HBS1L	135404894	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.123000	0.41996	0.969000	0.38237	0.459000	0.35465	TAT		0.358	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			6	40	0	0	0	1	0	6	40				
IGHMBP2	3508	broad.mit.edu	37	11	68704242	68704242	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68704242A>G	ENST00000255078.3	+	13	2405	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	765	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.|SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCGAGGAGCACGGGCTGAGG	0.612																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2293-2295)cAc>cGc		immunoglobulin mu binding protein 2							57.0	52.0	54.0					11																	68704242		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68704242A>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2294A>G	11.37:g.68704242A>G	ENSP00000255078:p.His765Arg						p.H765R	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2405	+			765			R3H.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2294A>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656202	0.29425	.	.	ENSG00000132740	ENST00000255078	T	0.43294	0.95	4.35	-7.43	0.01383	Single-stranded nucleic acid binding R3H (3);	2.124950	0.01514	N	0.018047	T	0.29783	0.0744	L	0.27053	0.805	0.29437	N	0.859432	B	0.24675	0.109	B	0.21151	0.033	T	0.12451	-1.0547	10	0.25106	T	0.35	-21.81	14.6632	0.68888	0.1978:0.0:0.0:0.8022	.	765	P38935	SMBP2_HUMAN	R	765	ENSP00000255078:H765R	ENSP00000255078:H765R	H	+	2	0	IGHMBP2	68460818	0.000000	0.05858	0.474000	0.27266	0.963000	0.63663	0.235000	0.17948	-1.027000	0.03325	-0.368000	0.07277	CAC		0.612	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		4	47	0	0	0	1	0	4	47				
TTC36	143941	broad.mit.edu	37	11	118398294	118398294	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118398294G>A	ENST00000302783.4	+	1	108	c.85G>A	c.(85-87)Gga>Aga	p.G29R	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	29										lung(2)	2						ATTGGACCTCGGAGAGGAAGC	0.537																																						ENST00000302783.4																			0				lung(2)	2						c.(85-87)Gga>Aga		tetratricopeptide repeat domain 36							229.0	228.0	228.0					11																	118398294		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118398294G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.85G>A	11.37:g.118398294G>A	ENSP00000307640:p.Gly29Arg					RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR	p.G29R	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN			1	108	+			29					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.85G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492969	0.26774	.	.	ENSG00000172425	ENST00000302783	T	0.31247	1.5	5.53	4.61	0.57282	.	0.491569	0.23386	N	0.048757	T	0.29914	0.0748	L	0.60455	1.87	0.80722	D	1	B	0.28605	0.217	B	0.24394	0.053	T	0.05566	-1.0877	10	0.17369	T	0.5	-0.0304	15.6761	0.77326	0.0:0.0:0.8616:0.1384	.	29	A6NLP5	TTC36_HUMAN	R	29	ENSP00000307640:G29R	ENSP00000307640:G29R	G	+	1	0	TTC36	117903504	1.000000	0.71417	0.776000	0.31678	0.274000	0.26718	5.008000	0.63991	1.295000	0.44724	0.563000	0.77884	GGA		0.537	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		13	205	0	0	0	1	0	13	205				
AEBP1	165	broad.mit.edu	37	7	44152667	44152667	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44152667G>C	ENST00000223357.3	+	19	2952	c.2647G>C	c.(2647-2649)Gag>Cag	p.E883Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.E458Q|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	883	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTCCCTCATGAGAGTGAGCT	0.587																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2647-2649)Gag>Cag		AE binding protein 1							135.0	146.0	142.0					7																	44152667		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44152667G>C	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2647G>C	7.37:g.44152667G>C	ENSP00000223357:p.Glu883Gln					AEBP1_ENST00000450684.2_Missense_Mutation_p.E458Q	p.E883Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			19	2952	+			883			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2647G>C	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958830	0.53400	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.11712	2.75;2.75	5.27	5.27	0.74061	Peptidase M14, carboxypeptidase A (2);	0.055834	0.64402	D	0.000001	T	0.13286	0.0322	L	0.32530	0.975	0.51482	D	0.999927	B;B	0.34349	0.124;0.45	B;B	0.38056	0.092;0.264	T	0.04454	-1.0950	10	0.56958	D	0.05	-41.1525	18.8544	0.92246	0.0:0.0:1.0:0.0	.	458;883	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	Q	883;458	ENSP00000223357:E883Q;ENSP00000398878:E458Q	ENSP00000223357:E883Q	E	+	1	0	AEBP1	44119192	1.000000	0.71417	0.829000	0.32907	0.994000	0.84299	4.435000	0.59941	2.621000	0.88768	0.591000	0.81541	GAG		0.587	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	187	0	0	0	1	0	8	187				
ITGA1	3672	broad.mit.edu	37	5	52211386	52211386	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:52211386T>A	ENST00000282588.6	+	15	2408	c.1950T>A	c.(1948-1950)gaT>gaA	p.D650E		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	650					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCTGACAGATGTGACTATTG	0.468																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1948-1950)gaT>gaA		integrin, alpha 1							216.0	215.0	216.0					5																	52211386		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211386T>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1950T>A	5.37:g.52211386T>A	ENSP00000282588:p.Asp650Glu						p.D650E	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			15	2408	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	650					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1950T>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157863	0.78114	.	.	ENSG00000213949	ENST00000282588	D	0.88664	-2.41	5.53	1.54	0.23209	.	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.86953	2.85	0.58432	D	0.999991	D	0.76494	0.999	D	0.69142	0.962	D	0.92476	0.5989	10	0.87932	D	0	.	9.1995	0.37249	0.0:0.2752:0.0:0.7248	.	650	P56199	ITA1_HUMAN	E	650	ENSP00000282588:D650E	ENSP00000282588:D650E	D	+	3	2	ITGA1	52247143	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.877000	0.28106	0.486000	0.27676	0.528000	0.53228	GAT		0.468	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		9	124	0	0	0	1	0	9	124				
GPR83	10888	broad.mit.edu	37	11	94113678	94113678	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:94113678G>C	ENST00000243673.2	-	4	1080	c.909C>G	c.(907-909)ctC>ctG	p.L303L	GPR83_ENST00000539203.2_Silent_p.L261L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	303					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAACCAGCAGAGGGCAAAGA	0.527																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(907-909)ctC>ctG		G protein-coupled receptor 83							145.0	103.0	117.0					11																	94113678		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113678G>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.909C>G	11.37:g.94113678G>C						GPR83_ENST00000539203.2_Silent_p.L261L	p.L303L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1080	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	303					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.909C>G	CCDS8297.1																																																																																				0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		9	96	0	0	0	1	0	9	96				
CTTNBP2	83992	broad.mit.edu	37	7	117375351	117375351	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:117375351G>A	ENST00000160373.3	-	15	3751	c.3660C>T	c.(3658-3660)agC>agT	p.S1220S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1220					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)		GGCTTTCAGTGCTGCGATTTT	0.388																																						ENST00000160373.3																			0				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						c.(3658-3660)agC>agT		cortactin binding protein 2							68.0	74.0	72.0					7																	117375351		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117375351G>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.3660C>T	7.37:g.117375351G>A							p.S1220S	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	15	3751	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1220					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3660C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208936	0.22205	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.65668	0.2713	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62756	-0.6787	4	.	.	.	-1.2748	13.5357	0.61646	0.0809:0.0:0.9191:0.0	.	.	.	.	Y	708	.	.	H	-	1	0	CTTNBP2	117162587	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.355000	0.44107	2.745000	0.94114	0.655000	0.94253	CAC		0.388	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		5	81	0	0	0	1	0	5	81				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		11	38	0	0	0	1	0	11	38				
MUC16	94025	broad.mit.edu	37	19	8974003	8974003	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8974003T>C	ENST00000397910.4	-	76	42871	c.42668A>G	c.(42667-42669)tAc>tGc	p.Y14223C	MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14286				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGATGTACTCTGAGGA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42667-42669)tAc>tGc		mucin 16, cell surface associated							115.0	118.0	117.0					19																	8974003		1985	4164	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8974003T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42668A>G	19.37:g.8974003T>C	ENSP00000381008:p.Tyr14223Cys					MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR	p.Y14223C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42871	-			14286	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42668A>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.15|12.15	1.851189|1.851189	0.32699|0.32699	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.51071	.|0.72;0.72	4.57|4.57	2.36|2.36	0.29203|0.29203	.|SEA (1);	.|0.277119	.|0.19431	.|N	.|0.114451	T|T	0.66376|0.66376	0.2783|0.2783	M|M	0.87269|0.87269	2.87|2.87	.|.	.|.	.|.	.|D;D	.|0.76494	.|0.999;0.995	.|D;D	.|0.76575	.|0.923;0.988	T|T	0.70630|0.70630	-0.4819|-0.4819	4|9	.|0.62326	.|D	.|0.03	.|.	5.1047|5.1047	0.14777|0.14777	0.1823:0.0:0.1901:0.6277|0.1823:0.0:0.1901:0.6277	.|.	.|21868;14223	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|C	1046|14223;864	.|ENSP00000381008:Y14223C;ENSP00000370338:Y864C	.|ENSP00000370338:Y864C	T|Y	-|-	1|2	0|0	MUC16|MUC16	8835003|8835003	0.250000|0.250000	0.23951|0.23951	0.007000|0.007000	0.13788|0.13788	0.002000|0.002000	0.02628|0.02628	0.791000|0.791000	0.26915|0.26915	0.311000|0.311000	0.23014|0.23014	-0.385000|-0.385000	0.06624|0.06624	ACA|TAC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	14	0	0	0	1	0	4	14				
PREX1	57580	broad.mit.edu	37	20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A	rs375685234		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:47324916G>A	ENST00000371941.3	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000396220.1_Missense_Mutation_p.A222V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(664-666)gCg>gTg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		G	VAL/ALA	0,4406		0,0,2203	120.0	130.0	127.0		665	5.6	0.2	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREX1	NM_020820.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/1660	47324916	1,13005	2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324916G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.665C>T	20.37:g.47324916G>A	ENSP00000361009:p.Ala222Val					PREX1_ENST00000371941.3_Missense_Mutation_p.A222V	p.A222V			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	687	-			222			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.665C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676973	0.29783	0.0	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64803	-0.12;-0.12	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.51126	0.1656	L	0.33137	0.985	0.41247	D	0.986688	P	0.35959	0.53	B	0.28139	0.086	T	0.49744	-0.8907	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	V	222	ENSP00000361009:A222V;ENSP00000379522:A222V	ENSP00000361009:A222V	A	-	2	0	PREX1	46758323	1.000000	0.71417	0.162000	0.22713	0.184000	0.23303	4.979000	0.63806	2.657000	0.90304	0.655000	0.94253	GCG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		15	187	0	0	0	1	0	15	187				
PVR	5817	broad.mit.edu	37	19	45153219	45153219	+	Missense_Mutation	SNP	C	C	T	rs561763868		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45153219C>T	ENST00000425690.3	+	3	865	c.566C>T	c.(565-567)aCg>aTg	p.T189M	PVR_ENST00000406449.4_Missense_Mutation_p.T189M|PVR_ENST00000403059.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.T189M	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	189	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)	p.T189M(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ATGCCCAATACGAGCCAGGTG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15615	0.0		0.0	False		,,,				2504	0.001					ENST00000425690.3																			1	Substitution - Missense(1)	p.T189M(1)	upper_aerodigestive_tract(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(565-567)aCg>aTg		poliovirus receptor							59.0	57.0	58.0					19																	45153219		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153219C>T	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.566C>T	19.37:g.45153219C>T	ENSP00000402060:p.Thr189Met					PVR_ENST00000403059.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.T189M|PVR_ENST00000344956.4_Missense_Mutation_p.T189M	p.T189M	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	3	865	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	189			Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.566C>T	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044232	0.19748	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.54	-9.08	0.00720	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.056560	0.00877	N	0.002090	T	0.62938	0.2469	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.31910	0.103;0.154;0.297;0.346	B;B;B;B	0.31442	0.027;0.08;0.08;0.13	T	0.57849	-0.7740	10	0.45353	T	0.12	.	7.8432	0.29410	0.1501:0.433:0.0:0.4169	.	189;189;189;189	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	M	189	ENSP00000340870:T189M;ENSP00000402060:T189M;ENSP00000383907:T189M;ENSP00000385344:T189M	ENSP00000340870:T189M	T	+	2	0	PVR	49845059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.588000	0.05774	-2.189000	0.00758	-1.478000	0.00992	ACG		0.632	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		18	86	0	0	0	1	0	18	86				
VPS35	55737	broad.mit.edu	37	16	46712964	46712964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:46712964C>T	ENST00000299138.7	-	6	669	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	204					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCTCTATCTCGGCTATGTCC	0.433																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(610-612)cGa>cAa		vacuolar protein sorting 35 homolog (S. cerevisiae)							160.0	151.0	154.0					16																	46712964		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46712964C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.611G>A	16.37:g.46712964C>T	ENSP00000299138:p.Arg204Gln						p.R204Q	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			6	669	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	204					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.611G>A	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	36	5.743419	0.96873	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.50001	0.76	5.13	5.13	0.70059	.	0.065510	0.64402	D	0.000011	T	0.70325	0.3211	M	0.92738	3.34	0.80722	D	1	D;P	0.58268	0.982;0.937	P;P	0.52514	0.497;0.701	T	0.79155	-0.1920	10	0.59425	D	0.04	-3.1342	18.9413	0.92607	0.0:1.0:0.0:0.0	.	204;69	Q96QK1;F5GYF5	VPS35_HUMAN;.	Q	204;69	ENSP00000299138:R204Q	ENSP00000299138:R204Q	R	-	2	0	VPS35	45270465	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.776000	0.85560	2.541000	0.85698	0.460000	0.39030	CGA		0.433	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			7	63	0	0	0	1	0	7	63				
SLC4A11	83959	broad.mit.edu	37	20	3214613	3214613	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:3214613C>T	ENST00000380056.3	-	5	654	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	SLC4A11_ENST00000539553.2_Missense_Mutation_p.A187T|SLC4A11_ENST00000380059.3_Missense_Mutation_p.A230T	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	203					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTCACTGTGGCGGTGACCCCT	0.647																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(688-690)Gcc>Acc		solute carrier family 4, sodium borate transporter, member 11							108.0	103.0	105.0					20																	3214613		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214613C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.607G>A	20.37:g.3214613C>T	ENSP00000369396:p.Ala203Thr					SLC4A11_ENST00000380056.3_Missense_Mutation_p.A203T|SLC4A11_ENST00000539553.1_Missense_Mutation_p.A187T|SLC4A11_ENST00000474451.1_5'UTR	p.A230T	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			6	789	-			203					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.688G>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023109	0.54683	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.22	4.27	0.50696	Phosphotransferase/anion transporter (1);	0.061993	0.64402	D	0.000006	T	0.74589	0.3736	L	0.42245	1.32	0.58432	D	0.999991	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.50860	0.652;0.546;0.546	T	0.70389	-0.4885	10	0.09843	T	0.71	.	14.1928	0.65649	0.1507:0.8493:0.0:0.0	.	187;230;203	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	T	230;203;187;187	ENSP00000369399:A230T;ENSP00000369396:A203T;ENSP00000441370:A187T;ENSP00000404271:A187T	ENSP00000369396:A203T	A	-	1	0	SLC4A11	3162613	0.995000	0.38212	0.854000	0.33618	0.287000	0.27160	3.257000	0.51500	1.160000	0.42584	0.563000	0.77884	GCC		0.647	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			11	81	0	0	0	1	0	11	81				
ITPKB	3707	broad.mit.edu	37	1	226924442	226924442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:226924442G>A	ENST00000272117.3	-	1	717	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W|ITPKB_ENST00000429204.1_Missense_Mutation_p.R240W			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	240					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCAGCCCGGCCGGGAAGA	0.602																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(718-720)Cgg>Tgg		inositol-trisphosphate 3-kinase B							62.0	66.0	65.0					1																	226924442		2200	4296	6496	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924442G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.718C>T	1.37:g.226924442G>A	ENSP00000272117:p.Arg240Trp					ITPKB_ENST00000272117.3_Missense_Mutation_p.R240W|ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W	p.R240W	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1045	-		Prostate(94;0.0773)	240					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.718C>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798116	0.31777	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25579	1.81;1.81;1.79	4.6	2.73	0.32206	.	1.866530	0.02627	N	0.103886	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.56958	D	0.05	.	5.9808	0.19405	0.3147:0.0:0.6853:0.0	.	240	P27987	IP3KB_HUMAN	W	240	ENSP00000272117:R240W;ENSP00000411152:R240W;ENSP00000355748:R240W	ENSP00000272117:R240W	R	-	1	2	ITPKB	224991065	0.015000	0.18098	0.004000	0.12327	0.015000	0.08874	1.911000	0.39937	0.556000	0.29098	0.561000	0.74099	CGG		0.602	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		8	111	0	0	0	1	0	8	111				
AKAP6	9472	broad.mit.edu	37	14	33292499	33292499	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:33292499G>A	ENST00000280979.4	+	13	5650	c.5480G>A	c.(5479-5481)gGc>gAc	p.G1827D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1827					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGATGAAGGGCAGTAAAGAT	0.383																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5479-5481)gGc>gAc		A kinase (PRKA) anchor protein 6							95.0	96.0	95.0					14																	33292499		2202	4300	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292499G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5480G>A	14.37:g.33292499G>A	ENSP00000280979:p.Gly1827Asp					AKAP6_ENST00000557272.1_Intron	p.G1827D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5650	+	Breast(36;0.0388)|Prostate(35;0.15)		1827					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5480G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	6.210	0.406894	0.11754	.	.	ENSG00000151320	ENST00000280979	T	0.04970	3.52	5.48	4.56	0.56223	.	0.672470	0.15689	N	0.249523	T	0.06462	0.0166	L	0.44542	1.39	0.58432	D	0.999996	B	0.28128	0.201	B	0.24006	0.05	T	0.23904	-1.0175	10	0.52906	T	0.07	-0.2828	6.9844	0.24721	0.1447:0.0:0.7081:0.1471	.	1827	Q13023	AKAP6_HUMAN	D	1827	ENSP00000280979:G1827D	ENSP00000280979:G1827D	G	+	2	0	AKAP6	32362250	1.000000	0.71417	0.551000	0.28230	0.716000	0.41182	2.430000	0.44766	1.257000	0.44085	0.650000	0.86243	GGC		0.383	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	114	0	0	0	1	0	8	114				
FRMPD3	84443	broad.mit.edu	37	X	106845298	106845298	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106845298C>G	ENST00000276185.4	+	16	4128	c.4128C>G	c.(4126-4128)ctC>ctG	p.L1376L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1376						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCGTGAGCCTCAGCAGCCCCA	0.642																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4126-4128)ctC>ctG		FERM and PDZ domain containing 3							39.0	40.0	40.0					X																	106845298		876	1991	2867	SO:0001819	synonymous_variant	84443					cytoskeleton		g.chrX:106845298C>G	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4128C>G	X.37:g.106845298C>G							p.L1376L			Q5JV73	FRPD3_HUMAN			16	4128	+			1376					Q96JK8	Silent	SNP	ENST00000276185.4	37	c.4128C>G																																																																																					0.642	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		8	62	0	0	0	1	0	8	62				
EFHC1	114327	broad.mit.edu	37	6	52318995	52318995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:52318995C>T	ENST00000371068.5	+	5	929	c.826C>T	c.(826-828)Cga>Tga	p.R276*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGTGGAAATTCGAGAGGTCCA	0.448																																						ENST00000371068.5																			1	Substitution - Nonsense(1)	p.R276*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(826-828)Cga>Tga		EF-hand domain (C-terminal) containing 1							179.0	162.0	167.0					6																	52318995		2203	4300	6503	SO:0001587	stop_gained	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52318995C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.826C>T	6.37:g.52318995C>T	ENSP00000360107:p.Arg276*					EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*	p.R276*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			5	929	+	Lung NSC(77;0.109)		276			DM10 2.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Nonsense_Mutation	SNP	ENST00000371068.5	37	c.826C>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971522	0.97971	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.87	4.99	0.66335	.	0.250637	0.40469	N	0.001087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.2299	14.2317	0.65898	0.2703:0.7297:0.0:0.0	.	.	.	.	X	276;185;257	.	ENSP00000360107:R276X	R	+	1	2	EFHC1	52426954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.974000	0.29436	1.460000	0.47911	0.591000	0.81541	CGA		0.448	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		12	99	0	0	0	1	0	12	99				
USP45	85015	broad.mit.edu	37	6	99894228	99894228	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:99894228T>C	ENST00000327681.6	-	14	1952	c.1420A>G	c.(1420-1422)Agc>Ggc	p.S474G	USP45_ENST00000369233.2_Missense_Mutation_p.S426G|USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000500704.2_Missense_Mutation_p.S474G	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	474	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCATGAGGCTGGCAAACATT	0.398																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1420-1422)Agc>Ggc		ubiquitin specific peptidase 45							70.0	64.0	66.0					6																	99894228		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99894228T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1420A>G	6.37:g.99894228T>C	ENSP00000333376:p.Ser474Gly					USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000500704.2_Missense_Mutation_p.S474G|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.S426G	p.S474G	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	14	1952	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	474					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.1420A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	9.030	0.987067	0.18889	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.18016	2.24;3.72;3.72;3.71	5.48	-1.23	0.09465	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.633230	0.01047	N	0.004418	T	0.03739	0.0106	N	0.25286	0.73	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.36648	-0.9739	10	0.21014	T	0.42	.	9.8672	0.41152	0.0:0.3732:0.0:0.6268	.	474;154	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	G	154;474;474;426	ENSP00000376495:S154G;ENSP00000424372:S474G;ENSP00000333376:S474G;ENSP00000358236:S426G	ENSP00000333376:S474G	S	-	1	0	USP45	100000949	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.037000	0.13840	0.017000	0.15025	0.528000	0.53228	AGC		0.398	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		12	71	0	0	0	1	0	12	71				
PDGFD	80310	broad.mit.edu	37	11	103814353	103814353	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:103814353A>G	ENST00000393158.2	-	5	778	c.599T>C	c.(598-600)gTa>gCa	p.V200A	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Missense_Mutation_p.V194A			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	200					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GGGATCCGTTACTGATGGAGA	0.418																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(580-582)gTa>gCa		platelet derived growth factor D							79.0	68.0	72.0					11																	103814353		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103814353A>G	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.599T>C	11.37:g.103814353A>G	ENSP00000376865:p.Val200Ala					PDGFD_ENST00000393158.2_Missense_Mutation_p.V200A	p.V194A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	5	1032	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	200					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.581T>C	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405992	0.62288	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.27720	1.65;1.66	5.53	5.53	0.82687	.	0.207799	0.41396	D	0.000899	T	0.28995	0.0720	L	0.54323	1.7	0.36899	D	0.890287	B;B	0.27791	0.189;0.167	B;B	0.28011	0.079;0.085	T	0.18555	-1.0333	10	0.07644	T	0.81	-11.2555	15.953	0.79859	1.0:0.0:0.0:0.0	.	200;194	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	A	200;194	ENSP00000376865:V200A;ENSP00000302193:V194A	ENSP00000302193:V194A	V	-	2	0	PDGFD	103319563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.718000	0.74713	2.236000	0.73375	0.528000	0.53228	GTA		0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		5	23	0	0	0	1	0	5	23				
STOX2	56977	broad.mit.edu	37	4	184930441	184930441	+	Silent	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:184930441C>G	ENST00000308497.4	+	3	1885	c.450C>G	c.(448-450)ctC>ctG	p.L150L	STOX2_ENST00000438269.1_Silent_p.L150L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	150					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCTTCCCTCATAAGAACTA	0.532																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(448-450)ctC>ctG		storkhead box 2							78.0	77.0	77.0					4																	184930441		1993	4171	6164	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184930441C>G	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.450C>G	4.37:g.184930441C>G						STOX2_ENST00000438269.1_Silent_p.L150L	p.L150L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1885	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	150					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.450C>G	CCDS47167.1																																																																																				0.532	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		8	50	0	0	0	1	0	8	50				
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:76046980A>G	ENST00000588061.1	+	5	2564	c.1837A>G	c.(1837-1839)Aaa>Gaa	p.K613E	TNRC6C_ENST00000335749.4_Missense_Mutation_p.K613E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	613	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)Aaa>Gaa		trinucleotide repeat containing 6C							77.0	78.0	78.0					17																	76046980		1966	4142	6108	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980A>G	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837A>G	17.37:g.76046980A>G	ENSP00000468647:p.Lys613Glu					TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E	p.K613E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			613			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.1837A>G	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966609	0.53507	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15718	2.4;2.42;2.42;2.4	5.97	5.97	0.96955	.	0.046204	0.85682	D	0.000000	T	0.36138	0.0956	M	0.62723	1.935	0.53688	D	0.999977	P;D;D	0.76494	0.829;0.999;0.985	P;D;P	0.68353	0.595;0.957;0.612	T	0.09618	-1.0666	10	0.11794	T	0.64	-16.6361	16.4504	0.83984	1.0:0.0:0.0:0.0	.	613;613;613	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	E	613	ENSP00000336783:K613E;ENSP00000301624:K613E;ENSP00000440310:K613E;ENSP00000442421:K613E	ENSP00000301624:K613E	K	+	1	0	TNRC6C	73558575	1.000000	0.71417	0.806000	0.32338	0.942000	0.58702	7.036000	0.76524	2.288000	0.76882	0.533000	0.62120	AAA		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	86	0	0	0	1	0	8	86				
UCK1	83549	broad.mit.edu	37	9	134401348	134401348	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:134401348T>C	ENST00000372215.4	-	6	713	c.620A>G	c.(619-621)gAt>gGt	p.D207G	UCK1_ENST00000372210.3_Missense_Mutation_p.D198G|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.R175R|UCK1_ENST00000372211.3_Missense_Mutation_p.D212G	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	207					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GATGATCACATCGGCATACTT	0.537																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(619-621)gAt>gGt		uridine-cytidine kinase 1							134.0	120.0	125.0					9																	134401348		2203	4300	6503	SO:0001583	missense	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134401348T>C	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.620A>G	9.37:g.134401348T>C	ENSP00000361289:p.Asp207Gly					UCK1_ENST00000372211.3_Missense_Mutation_p.D212G|UCK1_ENST00000372210.3_Missense_Mutation_p.D198G|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.R175R	p.D207G	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	6	713	-			207					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	c.620A>G	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215348	0.58452	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	4.97	4.97	0.65823	Phosphoribulokinase/uridine kinase (1);	0.101128	0.64402	D	0.000003	T	0.78278	0.4258	.	.	.	0.80722	D	1	D;D	0.64830	0.971;0.994	D;D	0.71414	0.973;0.973	T	0.81623	-0.0849	8	0.87932	D	0	-19.4324	13.8322	0.63389	0.0:0.0:0.0:1.0	.	198;207	Q5JT10;Q9HA47	.;UCK1_HUMAN	G	207;212;198	.	ENSP00000361284:D198G	D	-	2	0	UCK1	133391169	1.000000	0.71417	0.060000	0.19600	0.161000	0.22273	7.621000	0.83083	1.870000	0.54199	0.459000	0.35465	GAT		0.537	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		7	109	0	0	0	1	0	7	109				
CD40LG	959	broad.mit.edu	37	X	135741392	135741392	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:135741392G>C	ENST00000370629.2	+	5	660	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	202					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CGGTAGATTCGAGAGAATCTT	0.483									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	GRCh37	CM962551	CD40LG	M		c.(604-606)Gag>Cag		CD40 ligand	Atorvastatin(DB01076)						212.0	209.0	210.0					X																	135741392		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741392G>C	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.604G>C	X.37:g.135741392G>C	ENSP00000359663:p.Glu202Gln					CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q	p.E202Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	660	+	Acute lymphoblastic leukemia(192;0.000127)		202						Missense_Mutation	SNP	ENST00000370629.2	37	c.604G>C	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528411	0.64860	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94497	-3.44;-3.44	5.56	5.56	0.83823	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.178417	0.47455	D	0.000237	D	0.96284	0.8788	L	0.56769	1.78	0.39687	D	0.970993	D;D	0.76494	0.999;0.998	D;D	0.67725	0.953;0.944	D	0.95955	0.8957	10	0.36615	T	0.2	0.1655	18.1588	0.89702	0.0:0.0:1.0:0.0	.	181;202	Q3L8U2;P29965	.;CD40L_HUMAN	Q	202;181	ENSP00000359663:E202Q;ENSP00000359662:E181Q	ENSP00000359662:E181Q	E	+	1	0	CD40LG	135569058	1.000000	0.71417	0.925000	0.36789	0.614000	0.37383	5.075000	0.64407	2.331000	0.79229	0.600000	0.82982	GAG		0.483	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		35	344	0	0	0	1	0	35	344				
KRT16P6	353194	broad.mit.edu	37	17	16722266	16722266	+	RNA	SNP	C	C	T	rs2656363	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:16722266C>T	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							TGGGCATCCTCGCCCTCCAGC	0.592													N|||	775	0.154752	0.0613	0.2378	5008	,	,		18639	0.0456		0.2903	False		,,,				2504	0.1953					ENST00000417510.1																			0																																																			353194							g.chr17:16722266C>T																													17.37:g.16722266C>T														0	1464	-									RNA	SNP	ENST00000602730.1	37																																																																																						0.592	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000468034.1			4	48	0	0	0	1	0	4	48				
IGF2R	3482	broad.mit.edu	37	6	160468852	160468852	+	Missense_Mutation	SNP	G	G	A	rs141234361		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160468852G>A	ENST00000356956.1	+	17	2406	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TACAACTTCCGGTGGTACACC	0.552																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2257-2259)cGg>cAg		insulin-like growth factor 2 receptor		G	GLN/ARG	0,4406		0,0,2203	109.0	98.0	102.0		2258	5.1	1.0	6	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	IGF2R	NM_000876.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	753/2492	160468852	2,13004	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468852G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2258G>A	6.37:g.160468852G>A	ENSP00000349437:p.Arg753Gln						p.R753Q	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2406	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2258G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460904	0.84317	0.0	2.33E-4	ENSG00000197081	ENST00000356956	T	0.02067	4.47	5.14	5.14	0.70334	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.02494	0.0076	L	0.52011	1.625	0.36332	D	0.8589	D	0.71674	0.998	P	0.54140	0.743	T	0.52852	-0.8520	10	0.45353	T	0.12	-11.437	8.8209	0.35025	0.2101:0.0:0.7899:0.0	.	753	P11717	MPRI_HUMAN	Q	753	ENSP00000349437:R753Q	ENSP00000349437:R753Q	R	+	2	0	IGF2R	160388842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.407000	0.81776	0.561000	0.74099	CGG		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		8	94	0	0	0	1	0	8	94				
MAML3	55534	broad.mit.edu	37	4	140641384	140641384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:140641384C>G	ENST00000509479.2	-	5	3366	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGGTCCTATTCCCATCATGCC	0.607																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2509-2511)gGa>gCa		mastermind-like 3 (Drosophila)							157.0	161.0	160.0					4																	140641384		2119	4239	6358	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641384C>G	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2510G>C	4.37:g.140641384C>G	ENSP00000421180:p.Gly837Ala					MGST2_ENST00000515137.1_Intron	p.G837A	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3366	-	all_hematologic(180;0.162)		833			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2510G>C	CCDS54805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.017|0.017	-1.496196|-1.496196	0.01009|0.01009	.|.	.|.	ENSG00000196782|ENSG00000196782	ENST00000502696|ENST00000509479;ENST00000538400	.|T	.|0.21932	.|1.98	5.81|5.81	3.97|3.97	0.46021|0.46021	.|.	.|0.381500	.|0.24141	.|N	.|0.041163	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.07443|0.07443	-1.0772|-1.0772	5|10	.|0.02654	.|T	.|1	.|.	16.7175|16.7175	0.85400|0.85400	0.0:0.5048:0.4952:0.0|0.0:0.5048:0.4952:0.0	.|.	.|837;833	.|E7EVW8;Q96JK9	.|.;MAML3_HUMAN	Q|A	181|837;144	.|ENSP00000421180:G837A	.|ENSP00000421180:G837A	E|G	-|-	1|2	0|0	MAML3|MAML3	140860834|140860834	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.203000|0.203000	0.24098|0.24098	2.354000|2.354000	0.44098|0.44098	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.607	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			9	146	0	0	0	1	0	9	146				
GPR114	221188	broad.mit.edu	37	16	57597804	57597804	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:57597804C>A	ENST00000340339.4	+	5	865	c.342C>A	c.(340-342)ccC>ccA	p.P114P	GPR114_ENST00000349457.3_Silent_p.P114P|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	114					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P114P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGCAGTTCCCCGCCGAGCTGA	0.622																																						ENST00000340339.4																			1	Substitution - coding silent(1)	p.P114P(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(340-342)ccC>ccA		G protein-coupled receptor 114							42.0	46.0	44.0					16																	57597804		2198	4300	6498	SO:0001819	synonymous_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597804C>A	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.342C>A	16.37:g.57597804C>A						GPR114_ENST00000349457.3_Silent_p.P114P|GPR114_ENST00000394361.4_3'UTR	p.P114P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			5	865	+			114					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	c.342C>A	CCDS10785.1																																																																																				0.622	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		13	80	1	0	0.0135373	1	0.01374	13	80				
OR6B1	135946	broad.mit.edu	37	7	143701563	143701563	+	Silent	SNP	G	G	A	rs562215999		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:143701563G>A	ENST00000408922.2	+	1	542	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A158A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCTCCCTGGCGAAGATCTACT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21965	0.0		0.0	False		,,,				2504	0.001					ENST00000408922.2																			1	Substitution - coding silent(1)	p.A158A(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(472-474)gcG>gcA		olfactory receptor, family 6, subfamily B, member 1							88.0	88.0	88.0					7																	143701563		2122	4254	6376	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701563G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.474G>A	7.37:g.143701563G>A							p.A158A	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	542	+	Melanoma(164;0.0783)		158					A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.474G>A	CCDS43667.1																																																																																				0.532	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			8	74	0	0	0	1	0	8	74				
ZFYVE26	23503	broad.mit.edu	37	14	68274151	68274151	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:68274151T>C	ENST00000347230.4	-	5	988	c.850A>G	c.(850-852)Aca>Gca	p.T284A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	284					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTTCTGTGACCTTCTCT	0.597																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(850-852)Aca>Gca		zinc finger, FYVE domain containing 26							44.0	46.0	45.0					14																	68274151		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274151T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.850A>G	14.37:g.68274151T>C	ENSP00000251119:p.Thr284Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A	p.T284A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	988	-			284					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.850A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740154	0.30865	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26067	1.9;1.76	5.68	-4.29	0.03721	.	0.501056	0.22742	N	0.056198	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.12785	-1.0534	10	0.30078	T	0.28	4.2807	6.1679	0.20400	0.0:0.2753:0.3669:0.3578	.	284;284;284	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	284;263;284	ENSP00000251119:T284A;ENSP00000450603:T284A	ENSP00000251119:T284A	T	-	1	0	ZFYVE26	67343904	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-0.077000	0.11394	-0.795000	0.04462	0.533000	0.62120	ACA		0.597	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		7	44	0	0	0	1	0	7	44				
KIAA1191	57179	broad.mit.edu	37	5	175782579	175782579	+	Missense_Mutation	SNP	C	C	T	rs377317335		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:175782579C>T	ENST00000298569.4	-	4	735	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	KIAA1191_ENST00000533553.1_Intron|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A68T|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A49T	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	68						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)	p.A68T(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GATACCTTGGCGAGGTGCTGA	0.592																																						ENST00000298569.4																			1	Substitution - Missense(1)	p.A68T(1)	kidney(1)	endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(202-204)Gcc>Acc		KIAA1191		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	133.0	108.0	117.0		145,202,202	4.1	1.0	5		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1191	NM_001079684.1,NM_001079685.1,NM_020444.3	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	49/287,68/306,68/306	175782579	1,13005	2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175782579C>T	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.202G>A	5.37:g.175782579C>T	ENSP00000298569:p.Ala68Thr					KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A49T|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A68T	p.A68T	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	4	735	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	68					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.202G>A	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572515	0.45798	0.0	1.16E-4	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	5.07	4.07	0.47477	.	0.224133	0.45606	D	0.000350	T	0.55178	0.1904	L	0.59436	1.845	0.80722	D	1	B	0.27351	0.176	B	0.21546	0.035	T	0.53697	-0.8402	9	0.28530	T	0.3	-13.7818	12.8548	0.57880	0.3058:0.6942:0.0:0.0	.	68	Q96A73	K1191_HUMAN	T	68;49;68;49;49;49	.	ENSP00000298569:A68T	A	-	1	0	KIAA1191	175715185	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.488000	0.53229	2.516000	0.84829	0.591000	0.81541	GCC		0.592	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		6	108	0	0	0	1	0	6	108				
GLYAT	10249	broad.mit.edu	37	11	58480325	58480325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:58480325G>A	ENST00000344743.3	-	4	365	c.224C>T	c.(223-225)aCt>aTt	p.T75I	GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I|GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	75					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GATTTGGTAAGTATTGGTATA	0.318																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(223-225)aCt>aTt		glycine-N-acyltransferase	Glycine(DB00145)						193.0	179.0	183.0					11																	58480325		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480325G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.224C>T	11.37:g.58480325G>A	ENSP00000340200:p.Thr75Ile					GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I|GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I	p.T75I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			4	365	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	75					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.224C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910420	0.52439	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.16597	2.33;2.33;2.33	5.65	4.74	0.60224	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.230059	0.43919	D	0.000511	T	0.43765	0.1262	M	0.86864	2.845	0.32497	N	0.539391	D;D	0.63880	0.991;0.993	P;D	0.65140	0.888;0.932	T	0.61574	-0.7035	10	0.42905	T	0.14	-29.2972	13.0588	0.58996	0.0:0.1613:0.8387:0.0	.	75;75	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	I	75	ENSP00000340200:T75I;ENSP00000431688:T75I;ENSP00000278400:T75I	ENSP00000278400:T75I	T	-	2	0	GLYAT	58236901	0.990000	0.36364	1.000000	0.80357	0.575000	0.36095	2.365000	0.44196	1.521000	0.48983	-0.156000	0.13503	ACT		0.318	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			5	85	0	0	0	1	0	5	85				
DGKI	9162	broad.mit.edu	37	7	137092654	137092654	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:137092654T>C	ENST00000288490.5	-	31	2911	c.2911A>G	c.(2911-2913)Aac>Gac	p.N971D	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000453654.2_Missense_Mutation_p.N640D|DGKI_ENST00000446122.1_Missense_Mutation_p.N953D	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	971					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCTCCCCGTTGCCGGTTTTA	0.428																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1918-1920)Aac>Gac		diacylglycerol kinase, iota							210.0	177.0	188.0					7																	137092654		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137092654T>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2911A>G	7.37:g.137092654T>C	ENSP00000288490:p.Asn971Asp					DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N953D|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000288490.5_Missense_Mutation_p.N971D	p.N640D			O75912	DGKI_HUMAN			30	2457	-			971					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1918A>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582225	0.28180	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.64618	-0.11;-0.11;-0.11	5.7	4.53	0.55603	Ankyrin repeat-containing domain (3);	0.095738	0.64402	D	0.000001	T	0.48589	0.1508	L	0.31371	0.925	0.31218	N	0.697808	B;P	0.36183	0.123;0.542	B;B	0.38156	0.139;0.266	T	0.49370	-0.8947	10	0.11794	T	0.64	.	12.2931	0.54829	0.0:0.0:0.3599:0.6401	.	640;971	E9PFX6;O75912	.;DGKI_HUMAN	D	640;888;974;971;953	ENSP00000392161:N640D;ENSP00000288490:N971D;ENSP00000399131:N953D	ENSP00000288490:N971D	N	-	1	0	DGKI	136743194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.103000	0.31062	0.966000	0.38159	0.533000	0.62120	AAC		0.428	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		5	99	0	0	0	1	0	5	99				
RAP1GAP2	23108	broad.mit.edu	37	17	2867170	2867170	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:2867170G>A	ENST00000254695.8	+	7	390	c.300G>A	c.(298-300)ccG>ccA	p.P100P	CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	100					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.P100P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AGGGAGGCCCGTACCCTCAGG	0.672																																						ENST00000254695.8																			1	Substitution - coding silent(1)	p.P100P(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(298-300)ccG>ccA		RAP1 GTPase activating protein 2							24.0	27.0	26.0					17																	2867170		1984	4151	6135	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2867170G>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.300G>A	17.37:g.2867170G>A						RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P|CTD-3060P21.1_ENST00000574885.1_RNA	p.P100P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			7	390	+			100					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.300G>A	CCDS45573.1																																																																																				0.672	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			5	24	0	0	0	1	0	5	24				
KIAA2022	340533	broad.mit.edu	37	X	73960813	73960813	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:73960813C>G	ENST00000055682.6	-	3	4190	c.3579G>C	c.(3577-3579)caG>caC	p.Q1193H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTGTTTTTCTGAGAAGAGC	0.428																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3577-3579)caG>caC		KIAA2022							79.0	76.0	77.0					X																	73960813		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960813C>G		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3579G>C	X.37:g.73960813C>G	ENSP00000055682:p.Gln1193His					KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1193H	p.Q1193H			Q5QGS0	K2022_HUMAN			3	4230	-			1193					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3579G>C	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599903	0.46318	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.31247	1.5;1.5	4.75	2.82	0.32997	.	0.459579	0.24152	N	0.041068	T	0.35364	0.0929	L	0.29908	0.895	0.35627	D	0.809938	D	0.67145	0.996	P	0.61592	0.891	T	0.45175	-0.9279	10	0.66056	D	0.02	-6.4728	8.5114	0.33220	0.0:0.7198:0.0:0.2802	.	1193	Q5QGS0	K2022_HUMAN	H	1193	ENSP00000362567:Q1193H;ENSP00000055682:Q1193H	ENSP00000055682:Q1193H	Q	-	3	2	KIAA2022	73877538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.892000	0.39748	1.009000	0.39289	0.600000	0.82982	CAG		0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		10	97	0	0	0	1	0	10	97				
CUBN	8029	broad.mit.edu	37	10	16957109	16957109	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:16957109T>C	ENST00000377833.4	-	47	7338	c.7273A>G	c.(7273-7275)Act>Gct	p.T2425A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2425	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACAGCAGTATTGCTAGAA	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7273-7275)Act>Gct		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118.0	103.0	108.0					10																	16957109		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957109T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7273A>G	10.37:g.16957109T>C	ENSP00000367064:p.Thr2425Ala						p.T2425A	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			47	7338	-			2425			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7273A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	3.990	-0.004643	0.07773	.	.	ENSG00000107611	ENST00000377833	T	0.17054	2.3	5.01	-0.243	0.13035	CUB (5);	0.625319	0.13206	N	0.405579	T	0.07593	0.0191	N	0.17723	0.515	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.33803	-0.9854	10	0.17369	T	0.5	.	1.6449	0.02760	0.2012:0.4063:0.0964:0.296	.	2425	O60494	CUBN_HUMAN	A	2425	ENSP00000367064:T2425A	ENSP00000367064:T2425A	T	-	1	0	CUBN	16997115	0.992000	0.36948	0.753000	0.31225	0.253000	0.25986	0.966000	0.29331	0.056000	0.16144	-0.334000	0.08254	ACT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	90	0	0	0	1	0	9	90				
CBWD3	445571	broad.mit.edu	37	9	70871839	70871839	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:70871839G>A	ENST00000360171.6	+	5	984	c.433G>A	c.(433-435)Gca>Aca	p.A145T	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	145							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATTTTCACGTGCAGTGGCTTC	0.284																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(433-435)Gca>Aca		COBW domain containing 3							25.0	31.0	29.0					9																	70871839		2191	4254	6445	SO:0001583	missense	445571						ATP binding	g.chr9:70871839G>A	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.433G>A	9.37:g.70871839G>A	ENSP00000353295:p.Ala145Thr					CBWD3_ENST00000377342.5_Intron	p.A145T	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	984	+			145					B4DNG9|Q6VB91	Missense_Mutation	SNP	ENST00000360171.6	37	c.433G>A	CCDS35038.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.942923	0.34283	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455061;ENST00000455820;ENST00000377344	T	0.42900	0.96	3.38	2.46	0.29980	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.63843	1.955	0.80722	D	1	B	0.20052	0.041	B	0.27608	0.081	T	0.34625	-0.9821	10	0.62326	D	0.03	-4.0143	9.8009	0.40764	0.1093:0.0:0.8907:0.0	.	145	Q5JTY5	CBWD3_HUMAN	T	145;145;145;145;109	ENSP00000353295:A145T	ENSP00000353295:A145T	A	+	1	0	CBWD3	70061659	1.000000	0.71417	0.979000	0.43373	0.854000	0.48673	7.010000	0.76353	0.529000	0.28599	0.305000	0.20034	GCA		0.284	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		14	260	0	0	0	1	0	14	260				
FANCD2OS	115795	broad.mit.edu	37	3	10146171	10146171	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:10146171G>A	ENST00000450660.2	-	2	504	c.288C>T	c.(286-288)ctC>ctT	p.L96L	FANCD2OS_ENST00000524279.1_Silent_p.L96L	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	96																	CTACTCCACTGAGGCGGATGG	0.517																																						ENST00000450660.2																			0											c.(286-288)ctC>ctT		FANCD2 opposite strand							119.0	110.0	113.0					3																	10146171		2203	4300	6503	SO:0001819	synonymous_variant	115795							g.chr3:10146171G>A	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.288C>T	3.37:g.10146171G>A						FANCD2OS_ENST00000524279.1_Silent_p.L96L	p.L96L	NM_001164839.1	NP_001158311.1					2	504	-									Silent	SNP	ENST00000450660.2	37	c.288C>T	CCDS2596.1																																																																																				0.517	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		6	90	0	0	0	1	0	6	90				
RMDN1	51115	broad.mit.edu	37	8	87498871	87498871	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:87498871C>T	ENST00000406452.3	-	4	496	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	RMDN1_ENST00000523911.1_Splice_Site_p.E69K|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Splice_Site_p.E113K|RMDN1_ENST00000430676.2_Splice_Site_p.E113K	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	113						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTGCATCTTCACTAATTTGA	0.368																																						ENST00000406452.3																			0											c.e4-1		regulator of microtubule dynamics 1							68.0	64.0	66.0					8																	87498871		2203	4300	6503	SO:0001630	splice_region_variant	51115							g.chr8:87498871C>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.336-1G>A	8.37:g.87498871C>T						CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Splice_Site_p.E69_splice|RMDN1_ENST00000519966.1_Splice_Site_p.E113_splice|RMDN1_ENST00000430676.2_Splice_Site_p.E113_splice	p.E113_splice	NM_016033.2	NP_057117.2					4	496	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Splice_Site	SNP	ENST00000406452.3	37	c.335_splice	CCDS34918.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997459	0.54147	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.88	5.01	0.66863	Tetratricopeptide-like helical (1);	0.179711	0.49916	D	0.000128	T	0.38772	0.1053	L	0.47716	1.5	0.80722	D	1	B;B;B	0.31790	0.2;0.34;0.097	B;B;B	0.32928	0.069;0.155;0.061	T	0.14924	-1.0455	10	0.14656	T	0.56	-9.3731	11.0852	0.48082	0.0:0.8593:0.0:0.1407	.	113;113;113	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	K	113;69;113;113;69	ENSP00000385927:E113K;ENSP00000429899:E69K;ENSP00000428661:E113K;ENSP00000409661:E113K;ENSP00000428743:E69K	ENSP00000385927:E113K	E	-	1	0	FAM82B	87567987	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.572000	0.36461	1.493000	0.48517	0.650000	0.86243	GAA		0.368	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	Missense_Mutation	5	38	0	0	0	1	0	5	38				
PCDHGB3	56102	broad.mit.edu	37	5	140751359	140751359	+	Silent	SNP	G	G	A	rs190449546	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140751359G>A	ENST00000576222.1	+	1	1529	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAATCCGCCTGGAGCCT	0.577																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1396-1398)ccG>ccA									128.0	131.0	130.0					5																	140751359		2121	4239	6360	SO:0001819	synonymous_variant	56102							g.chr5:140751359G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1398G>A	5.37:g.140751359G>A						PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.P466P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1529	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1398G>A	CCDS58980.1																																																																																				0.577	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	122	0	0	0	1	0	14	122				
LINC00957	255031	broad.mit.edu	37	7	44076350	44076350	+	lincRNA	SNP	T	T	C	rs28378571	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44076350T>C	ENST00000441052.1	+	0	0				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		GCTGCCAAAGTTCTTTTCCTC	0.617													c|||	554	0.110623	0.2663	0.1009	5008	,	,		20370	0.0099		0.0944	False		,,,				2504	0.0276					ENST00000446874.1																			0																																																			401331							g.chr7:44076350T>C	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44076350T>C														0	202	-									RNA	SNP	ENST00000441052.1	37																																																																																						0.617	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			6	73	0	0	0	1	0	6	73				
KRTAP5-8	57830	broad.mit.edu	37	11	71249137	71249137	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:71249137C>T	ENST00000398534.3	+	1	67	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	12						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGTGGCTCCGGCTGTGGGG	0.647																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(34-36)tcC>tcT		keratin associated protein 5-8							51.0	71.0	64.0					11																	71249137		2193	4284	6477	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249137C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.36C>T	11.37:g.71249137C>T							p.S12S	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	67	+			12					Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.36C>T	CCDS41683.1																																																																																				0.647	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		16	132	0	0	0	1	0	16	132				
LPAL2	80350	broad.mit.edu	37	6	160932113	160932113	+	RNA	SNP	G	G	A	rs549799170	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160932113G>A	ENST00000335388.5	-	0	43					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAGAGTAAACGCATCCACAAA	0.438																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															67.0	58.0	61.0					6																	160932113		692	1590	2282			80350							g.chr6:160932113G>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160932113G>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	43	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.438	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		12	109	0	0	0	1	0	12	109				
ZNF786	136051	broad.mit.edu	37	7	148767536	148767536	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:148767536C>G	ENST00000491431.1	-	4	2392	c.2328G>C	c.(2326-2328)atG>atC	p.M776I	ZNF786_ENST00000316286.9_Missense_Mutation_p.M690I|ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	776					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)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCCTCTATCATTGCAAACA	0.498																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(2068-2070)atG>atC		zinc finger protein 786							279.0	271.0	274.0					7																	148767536		2002	4181	6183	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767536C>G	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2328G>C	7.37:g.148767536C>G	ENSP00000417470:p.Met776Ile					ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I|ZNF786_ENST00000491431.1_Missense_Mutation_p.M776I	p.M690I			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2342	-	Melanoma(164;0.15)		776					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.2070G>C	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489152	0.44249	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.07444	3.19;3.33;3.25	4.62	2.62	0.31277	.	0.000000	0.41823	D	0.000801	T	0.04998	0.0134	N	0.22421	0.69	0.09310	N	1	B	0.28636	0.218	B	0.25759	0.063	T	0.31971	-0.9924	10	0.87932	D	0	-13.6151	4.2714	0.10789	0.2286:0.6516:0.0:0.1198	.	776	Q8N393	ZN786_HUMAN	I	690;776;739	ENSP00000313516:M690I;ENSP00000417470:M776I;ENSP00000404984:M739I	ENSP00000313516:M690I	M	-	3	0	ZNF786	148398469	0.737000	0.28175	0.911000	0.35937	0.536000	0.34869	1.822000	0.39052	1.162000	0.42619	0.591000	0.81541	ATG		0.498	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		20	262	0	0	0	1	0	20	262				
SLC38A5	92745	broad.mit.edu	37	X	48319088	48319088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:48319088G>A	ENST00000376876.3	-	13	1858	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C|SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	339					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACGGCCAGGCGCACACAGAGG	0.632																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1015-1017)Cgc>Tgc		solute carrier family 38, member 5							118.0	77.0	91.0					X																	48319088		2203	4300	6503	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48319088G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1015C>T	X.37:g.48319088G>A	ENSP00000366073:p.Arg339Cys					SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C	p.R339C			Q8WUX1	S38A5_HUMAN			13	1858	-			339					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1015C>T	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.345260	0.61073	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02709	4.19;4.19;4.19	4.52	1.25	0.21368	.	0.057351	0.64402	D	0.000002	T	0.15305	0.0369	M	0.92738	3.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.00250	-1.1878	10	0.87932	D	0	.	6.1467	0.20289	0.2076:0.0:0.6304:0.1619	.	339	Q8WUX1	S38A5_HUMAN	C	339;288;339	ENSP00000366073:R339C;ENSP00000366071:R288C;ENSP00000313740:R339C	ENSP00000313740:R339C	R	-	1	0	SLC38A5	48204032	1.000000	0.71417	0.018000	0.16275	0.737000	0.42083	4.190000	0.58365	0.226000	0.20979	0.436000	0.28706	CGC		0.632	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		9	48	0	0	0	1	0	9	48				
SHCBP1L	81626	broad.mit.edu	37	1	182873548	182873548	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:182873548C>G	ENST00000367547.3	-	8	1590	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333Q|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	524										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						ATCATAATTTCCTCTCTCTTT	0.363																																						ENST00000367547.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						c.(1354-1356)Gaa>Caa		SHC SH2-domain binding protein 1-like							88.0	93.0	91.0					1																	182873548		2203	4300	6503	SO:0001583	missense	81626							g.chr1:182873548C>G	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1354G>C	1.37:g.182873548C>G	ENSP00000356518:p.Glu452Gln					SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333Q	p.E452Q	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN			8	1590	-			524					Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	c.1354G>C	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525050	0.64747	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.43294	0.95;0.95	5.55	4.64	0.57946	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.100381	0.43919	D	0.000516	T	0.55705	0.1937	L	0.47716	1.5	0.33716	D	0.61638	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.85130	0.986;0.957;0.997	T	0.68401	-0.5418	10	0.66056	D	0.02	-27.2615	11.487	0.50358	0.0:0.9161:0.0:0.0839	.	524;333;452	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Q	452;521;333	ENSP00000356518:E452Q;ENSP00000397308:E333Q	ENSP00000287709:E521Q	E	-	1	0	SHCBP1L	181140171	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.586000	0.46119	1.358000	0.45922	0.655000	0.94253	GAA		0.363	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		7	77	0	0	0	1	0	7	77				
ZNF439	90594	broad.mit.edu	37	19	11978597	11978597	+	Missense_Mutation	SNP	G	G	C	rs569672688		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:11978597G>C	ENST00000304030.2	+	3	913	c.713G>C	c.(712-714)gGa>gCa	p.G238A	ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	238					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACTCACACTGGAGAGAAACCG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		22412	0.0		0.0	False		,,,				2504	0.001					ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(712-714)gGa>gCa		zinc finger protein 439							87.0	87.0	87.0					19																	11978597		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978597G>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.713G>C	19.37:g.11978597G>C	ENSP00000305077:p.Gly238Ala					ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A	p.G238A	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	913	+			238					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.713G>C	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.243878	0.39697	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.26373	1.74;1.74	0.575	0.575	0.17374	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30947	0.0781	M	0.83384	2.64	0.27290	N	0.957861	P	0.39480	0.675	B	0.41088	0.347	T	0.29579	-1.0007	9	0.66056	D	0.02	.	4.404	0.11400	0.2597:0.0:0.7403:0.0	.	238	Q8NDP4	ZN439_HUMAN	A	102;238	ENSP00000395632:G102A;ENSP00000305077:G238A	ENSP00000305077:G238A	G	+	2	0	ZNF439	11839597	0.016000	0.18221	0.054000	0.19295	0.355000	0.29361	0.200000	0.17257	0.577000	0.29470	0.194000	0.17425	GGA		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			16	132	0	0	0	1	0	16	132				
ZNF721	170960	broad.mit.edu	37	4	437477	437477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:437477G>A	ENST00000338977.5	-	2	791	c.743C>T	c.(742-744)tCa>tTa	p.S248L	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	248				SSS -> LIL (in Ref. 1; CAH10687). {ECO:0000305}.	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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTTGAGGATGAGGAAATGAC	0.378																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(742-744)tCa>tTa		zinc finger protein 721							57.0	61.0	59.0					4																	437477		2107	4250	6357	SO:0001583	missense	170960							g.chr4:437477G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.743C>T	4.37:g.437477G>A	ENSP00000340524:p.Ser248Leu					ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron	p.S248L							2	791	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.743C>T		.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440490	0.01098	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.02032	4.49;4.49	1.29	-2.58	0.06228	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	L	0.52364	1.645	0.09310	N	1	D;P;P	0.59357	0.985;0.534;0.478	D;B;B	0.69824	0.966;0.403;0.281	T	0.22173	-1.0224	9	0.11182	T	0.66	.	0.3735	0.00383	0.1849:0.1977:0.256:0.3614	.	248;260;260	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	L	248;260	ENSP00000340524:S248L;ENSP00000428878:S260L	ENSP00000340524:S248L	S	-	2	0	ZNF721	427477	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.549000	0.06041	-1.395000	0.02074	-1.052000	0.02337	TCA		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		4	57	0	0	0	1	0	4	57				
CREBBP	1387	broad.mit.edu	37	16	3778902	3778902	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:3778902G>T	ENST00000262367.5	-	31	6955	c.6146C>A	c.(6145-6147)gCt>gAt	p.A2049D	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2011D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2049					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)		CCGGGGCCCAGCCACGGCCGC	0.701			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				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				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						c.(6145-6147)gCt>gAt		CREB binding protein							10.0	14.0	13.0					16																	3778902		2154	4227	6381	SO:0001583	missense	1387				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.chr16:3778902G>T	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.6146C>A	16.37:g.3778902G>T	ENSP00000262367:p.Ala2049Asp					CREBBP_ENST00000382070.3_Missense_Mutation_p.A2011D	p.A2049D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6955	-		Ovarian(90;0.0266)	2049					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6146C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	3.070	-0.191284	0.06299	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.83591	-1.74;-1.7	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.000000	0.64402	D	0.000001	D	0.83751	0.5322	L	0.36672	1.1	0.53688	D	0.999973	D;D	0.59767	0.986;0.986	P;P	0.60473	0.875;0.8	T	0.79536	-0.1763	10	0.15066	T	0.55	-12.3111	14.6416	0.68729	0.0:0.1462:0.8537:0.0	.	2079;2049	Q4LE28;Q92793	.;CBP_HUMAN	D	2049;2079;2011;584	ENSP00000262367:A2049D;ENSP00000371502:A2011D	ENSP00000262367:A2049D	A	-	2	0	CREBBP	3718903	0.999000	0.42202	0.860000	0.33809	0.080000	0.17528	6.190000	0.72057	2.387000	0.81309	0.655000	0.94253	GCT		0.701	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	24	1	0	0.000602214	1	0.000622628	5	24				
CPT1A	1374	broad.mit.edu	37	11	68549278	68549278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68549278C>T	ENST00000265641.5	-	11	1467	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	CPT1A_ENST00000539743.1_Missense_Mutation_p.S438N|CPT1A_ENST00000376618.2_Missense_Mutation_p.S438N|CPT1A_ENST00000540367.1_Missense_Mutation_p.S438N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	438					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TTTGGCGTAGCTGTCCATTGA	0.478																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1312-1314)aGc>aAc		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						387.0	306.0	333.0					11																	68549278		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549278C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1313G>A	11.37:g.68549278C>T	ENSP00000265641:p.Ser438Asn					CPT1A_ENST00000540367.1_Missense_Mutation_p.S438N|CPT1A_ENST00000539743.1_Missense_Mutation_p.S438N|CPT1A_ENST00000376618.2_Missense_Mutation_p.S438N	p.S438N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1467	-	Esophageal squamous(3;3.28e-14)		438					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1313G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337720	0.24253	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.34	2.43	0.29744	.	0.242303	0.46758	N	0.000273	T	0.82263	0.4999	L	0.41027	1.25	0.37210	D	0.904746	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.005	T	0.73439	-0.3982	10	0.21014	T	0.42	.	11.3941	0.49832	0.0:0.4953:0.4331:0.0716	.	438;438	P50416;P50416-2	CPT1A_HUMAN;.	N	438	ENSP00000439084:S438N;ENSP00000365803:S438N;ENSP00000265641:S438N;ENSP00000446108:S438N	ENSP00000265641:S438N	S	-	2	0	CPT1A	68305854	0.998000	0.40836	0.926000	0.36857	0.752000	0.42762	0.715000	0.25822	0.237000	0.21200	0.655000	0.94253	AGC		0.478	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		9	182	0	0	0	1	0	9	182				
KLHL9	55958	broad.mit.edu	37	9	21333198	21333198	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:21333198G>A	ENST00000359039.4	-	1	2181	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	KLHL9_ENST00000537938.1_Missense_Mutation_p.S486F			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	554					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTATTCCAAGAATATCCACC	0.408																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1660-1662)tCt>tTt		kelch-like family member 9							156.0	152.0	153.0					9																	21333198		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333198G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1661C>T	9.37:g.21333198G>A	ENSP00000351933:p.Ser554Phe					KLHL9_ENST00000537938.1_Missense_Mutation_p.S486F	p.S554F			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	2181	-			554					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1661C>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807719	0.50421	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.78364	-1.17;-1.17	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.66439	2.03	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.88153	0.2852	10	0.87932	D	0	.	16.1095	0.81250	0.0:0.0:1.0:0.0	.	554	Q9P2J3	KLHL9_HUMAN	F	554;486	ENSP00000351933:S554F;ENSP00000437733:S486F	ENSP00000351933:S554F	S	-	2	0	KLHL9	21323198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.762000	0.85270	2.472000	0.83506	0.655000	0.94253	TCT		0.408	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		8	140	0	0	0	1	0	8	140				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	C	rs28392876	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672													.|||	426	0.0850639	0.0673	0.0591	5008	,	,		60824	0.0952		0.0815	False		,,,				2504	0.1207					ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>C														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	8	0	0	0	1	0	3	8				
KIF21A	55605	broad.mit.edu	37	12	39735313	39735313	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:39735313C>G	ENST00000361418.5	-	14	1930	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	KIF21A_ENST00000395670.3_Missense_Mutation_p.E639Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	639					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTACCTTTTTCATCTGATTCA	0.383																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1915-1917)Gaa>Caa		kinesin family member 21A							108.0	106.0	107.0					12																	39735313		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735313C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1915G>C	12.37:g.39735313C>G	ENSP00000354878:p.Glu639Gln					KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.E639Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q	p.E639Q			Q7Z4S6	KI21A_HUMAN			14	2334	-		Lung NSC(34;0.179)|all_lung(34;0.213)	639					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1915G>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715145	0.89112	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.68	5.68	0.88126	.	0.000000	0.51477	D	0.000090	T	0.59266	0.2181	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D	0.71674	0.994;0.998;0.997;0.996	D;D;D;P	0.75484	0.938;0.957;0.986;0.851	T	0.57136	-0.7863	10	0.42905	T	0.14	.	19.7873	0.96444	0.0:1.0:0.0:0.0	.	626;626;639;626	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	Q	626;639;639;626;639;626	ENSP00000354851:E626Q;ENSP00000379029:E639Q;ENSP00000445606:E626Q;ENSP00000354878:E639Q;ENSP00000438075:E626Q	ENSP00000344501:E639Q	E	-	1	0	KIF21A	38021580	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.779000	0.75057	2.673000	0.90976	0.655000	0.94253	GAA		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		11	56	0	0	0	1	0	11	56				
PRKDC	5591	broad.mit.edu	37	8	48706964	48706964	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:48706964T>A	ENST00000314191.2	-	75	10610	c.10554A>T	c.(10552-10554)gaA>gaT	p.E3518D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3518D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3519	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGTGATTTCTTCCACAGAGT	0.468								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(10552-10554)gaA>gaT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							97.0	91.0	93.0					8																	48706964		1906	4121	6027	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48706964T>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10554A>T	8.37:g.48706964T>A	ENSP00000313420:p.Glu3518Asp					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3518D	p.E3518D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			75	10610	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3519			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.10554A>T		.	.	.	.	.	.	.	.	.	.	T	8.472	0.857692	0.17178	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02579	4.31;4.24	5.86	-3.02	0.05446	PIK-related kinase (1);	0.217120	0.46442	D	0.000281	T	0.04770	0.0129	M	0.76002	2.32	0.51233	D	0.999911	B;B	0.28291	0.206;0.206	B;B	0.32980	0.156;0.156	T	0.18840	-1.0324	10	0.35671	T	0.21	.	11.7702	0.51953	0.0:0.4048:0.0:0.5952	.	3518;3519	E7EUY0;P78527	.;PRKDC_HUMAN	D	3518	ENSP00000313420:E3518D;ENSP00000345182:E3518D	ENSP00000313420:E3518D	E	-	3	2	PRKDC	48869517	0.998000	0.40836	0.250000	0.24296	0.012000	0.07955	0.515000	0.22801	-0.779000	0.04560	-0.256000	0.11100	GAA		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	39	0	0	0	1	0	4	39				
BAHD1	22893	broad.mit.edu	37	15	40754430	40754430	+	Silent	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:40754430T>C	ENST00000416165.1	+	3	1823	c.1752T>C	c.(1750-1752)cgT>cgC	p.R584R	BAHD1_ENST00000561234.1_Silent_p.R583R|BAHD1_ENST00000560846.1_Silent_p.R584R|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	584	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCGCCGCCGTCGCCGCCGCA	0.652																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1747-1749)cgT>cgC		bromo adjacent homology domain containing 1							65.0	74.0	71.0					15																	40754430		2161	4231	6392	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754430T>C	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1752T>C	15.37:g.40754430T>C						BAHD1_ENST00000560846.1_Silent_p.R584R|BAHD1_ENST00000416165.1_Silent_p.R584R	p.R583R			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2008	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	584			Arg-rich.		Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.1749T>C	CCDS10058.1																																																																																				0.652	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		18	103	0	0	0	1	0	18	103				
HERC1	8925	broad.mit.edu	37	15	64017534	64017534	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:64017534C>T	ENST00000443617.2	-	18	3612	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1175					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						TGAACAGTGGCGTTTTCATCC	0.473																																						ENST00000443617.2																			0				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						c.(3523-3525)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							78.0	77.0	77.0					15																	64017534		2029	4183	6212	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017534C>T	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.3525G>A	15.37:g.64017534C>T							p.T1175T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			18	3612	-			1175					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.3525G>A	CCDS45277.1																																																																																				0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	48	0	0	0	1	0	4	48				
TPCN2	219931	broad.mit.edu	37	11	68846367	68846367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:68846367A>G	ENST00000294309.3	+	16	1519	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	473					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGATTCTCAACTGCGTCTTC	0.597																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1417-1419)aAc>aGc		two pore segment channel 2							117.0	104.0	108.0					11																	68846367		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68846367A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1418A>G	11.37:g.68846367A>G	ENSP00000294309:p.Asn473Ser					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S	p.N473S	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		16	1519	+			473					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.1418A>G	CCDS8189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.75|11.75	1.732742|1.732742	0.30684|0.30684	.|.	.|.	ENSG00000162341|ENSG00000162341	ENST00000294309;ENST00000535009;ENST00000542467|ENST00000356782	D;D|.	0.97710|.	-4.5;-4.5|.	4.35|4.35	1.81|1.81	0.25067|0.25067	Ion transport (1);|.	0.257753|.	0.36482|.	N|.	0.002570|.	T|T	0.61464|0.61464	0.2349|0.2349	M|M	0.87682|0.87682	2.9|2.9	0.38029|0.38029	D|D	0.935083|0.935083	P;P;P|.	0.42908|.	0.793;0.674;0.754|.	B;B;B|.	0.43508|.	0.422;0.331;0.297|.	T|T	0.59354|0.59354	-0.7470|-0.7470	10|6	0.42905|0.07482	T|T	0.14|0.82	-10.1391|-10.1391	6.0316|6.0316	0.19683|0.19683	0.7731:0.0:0.0832:0.1436|0.7731:0.0:0.0832:0.1436	.|.	473;473;388|.	E7ETX0;Q8NHX9;F5H1G5|.	.;TPC2_HUMAN;.|.	S|A	473;388;473|347	ENSP00000294309:N473S;ENSP00000445551:N473S|.	ENSP00000294309:N473S|ENSP00000349231:T347A	N|T	+|+	2|1	0|0	TPCN2|TPCN2	68602943|68602943	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.497000|0.497000	0.33675|0.33675	5.168000|5.168000	0.64978|0.64978	0.537000|0.537000	0.28751|0.28751	0.379000|0.379000	0.24179|0.24179	AAC|ACT		0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	65	0	0	0	1	0	4	65				
SIGLEC10	89790	broad.mit.edu	37	19	51917032	51917032	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:51917032C>T	ENST00000339313.5	-	10	1871	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	SIGLEC10_ENST00000432469.2_Silent_p.R407R|SIGLEC10_ENST00000441969.3_Silent_p.R432R|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000353836.5_Silent_p.R490R|SIGLEC10_ENST00000436984.2_Silent_p.R442R|SIGLEC10_ENST00000442846.3_Silent_p.R342R			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	585					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGGGCCTCGGGGTTT	0.567																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1468-1470)agG>agA		sialic acid binding Ig-like lectin 10							132.0	126.0	128.0					19																	51917032		2203	4300	6503	SO:0001819	synonymous_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51917032C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1755G>A	19.37:g.51917032C>T						SIGLEC10_ENST00000441969.3_Silent_p.R432R|SIGLEC10_ENST00000339313.5_Silent_p.R585R|SIGLEC10_ENST00000436984.2_Silent_p.R442R|SIGLEC10_ENST00000442846.3_Silent_p.R342R|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|SIGLEC10_ENST00000432469.2_Silent_p.R407R	p.R490R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	9	1691	-		all_neural(266;0.0199)	585					A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Silent	SNP	ENST00000339313.5	37	c.1470G>A	CCDS12832.1																																																																																				0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		7	94	0	0	0	1	0	7	94				
NLRP14	338323	broad.mit.edu	37	11	7064475	7064475	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:7064475C>T	ENST00000299481.4	+	4	1564	c.1218C>T	c.(1216-1218)agC>agT	p.S406S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	406	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATATTTCTAGCTTGTTCACAC	0.493																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1216-1218)agC>agT		NLR family, pyrin domain containing 14							144.0	138.0	140.0					11																	7064475		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064475C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1218C>T	11.37:g.7064475C>T							p.S406S	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1564	+			406			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1218C>T	CCDS7776.1																																																																																				0.493	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		13	157	0	0	0	1	0	13	157				
CATSPER2	117155	broad.mit.edu	37	15	43940128	43940128	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:43940128G>A	ENST00000321596.5	-	2	331	c.132C>T	c.(130-132)atC>atT	p.I44I	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000381761.1_Silent_p.I50I|CATSPER2_ENST00000396879.1_Silent_p.I44I|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.I44I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453																																						ENST00000396879.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(130-132)atC>atT		cation channel, sperm associated 2							118.0	123.0	122.0					15																	43940128		2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43940128G>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.132C>T	15.37:g.43940128G>A						CATSPER2_ENST00000381761.1_Silent_p.I50I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.I44I|CATSPER2_ENST00000321596.5_Silent_p.I44I|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000464721.1_Intron	p.I44I			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	3	244	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	44					Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.132C>T	CCDS10099.1																																																																																				0.453	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		7	152	0	0	0	1	0	7	152				
SOCS6	9306	broad.mit.edu	37	18	67993105	67993105	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:67993105G>A	ENST00000397942.3	+	2	1517	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	401	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCTAGCAAACGTGCCAGATGG	0.473																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1201-1203)Gtg>Atg		suppressor of cytokine signaling 6							179.0	166.0	170.0					18																	67993105		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993105G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1201G>A	18.37:g.67993105G>A	ENSP00000381034:p.Val401Met					SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M	p.V401M	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1517	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	401			SH2.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1201G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799955	0.31869	.	.	ENSG00000170677	ENST00000397942	D	0.88354	-2.37	5.7	5.7	0.88788	SH2 motif (4);	0.075485	0.52532	D	0.000075	T	0.81833	0.4906	N	0.12611	0.24	0.52501	D	0.999958	B	0.15141	0.012	B	0.15052	0.012	T	0.74890	-0.3510	10	0.37606	T	0.19	-14.1294	19.8418	0.96692	0.0:0.0:1.0:0.0	.	401	O14544	SOCS6_HUMAN	M	401	ENSP00000381034:V401M	ENSP00000381034:V401M	V	+	1	0	SOCS6	66144085	1.000000	0.71417	0.957000	0.39632	0.876000	0.50452	3.794000	0.55492	2.685000	0.91497	0.561000	0.74099	GTG		0.473	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			11	90	0	0	0	1	0	11	90				
PRH2	5555	broad.mit.edu	37	12	11083308	11083308	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11083308C>A	ENST00000396400.3	+	3	186	c.148C>A	c.(148-150)Cct>Act	p.P50T	PRH2_ENST00000381847.3_Missense_Mutation_p.P50T|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	50						extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TCAGGGACCACCTTTGGGAGG	0.547																																						ENST00000396400.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						c.(148-150)Cct>Act		proline-rich protein HaeIII subfamily 2							116.0	137.0	130.0					12																	11083308		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11083308C>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.148C>A	12.37:g.11083308C>A	ENSP00000379682:p.Pro50Thr					PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.P50T	p.P50T	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN			3	186	+			50					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.148C>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280132	0.23392	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.09630	2.96;2.96	1.24	-1.2	0.09554	.	0.191729	0.22301	U	0.061880	T	0.07954	0.0199	M	0.75615	2.305	0.09310	N	1	P	0.44659	0.84	B	0.30251	0.113	T	0.24835	-1.0149	10	0.62326	D	0.03	.	2.6519	0.05002	0.0:0.4648:0.3074:0.2279	.	50	P02810	PRPC_HUMAN	T	50	ENSP00000371271:P50T;ENSP00000379682:P50T	ENSP00000371271:P50T	P	+	1	0	PRH2	10974575	0.000000	0.05858	0.012000	0.15200	0.022000	0.10575	-0.556000	0.05992	-0.367000	0.08052	-0.498000	0.04607	CCT		0.547	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		12	175	1	0	6.40141e-05	1	6.81477e-05	12	175				
LIG4	3981	broad.mit.edu	37	13	108861664	108861664	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000405925.1_Silent_p.N651N|LIG4_ENST00000442234.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1951-1953)aaC>aaT	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							69.0	70.0	70.0					13																	108861664		2202	4300	6502	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861664G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1953C>T	13.37:g.108861664G>A						LIG4_ENST00000442234.1_Silent_p.N651N|LIG4_ENST00000405925.1_Silent_p.N651N	p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2225	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		651					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.1953C>T	CCDS9508.1																																																																																				0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		12	80	0	0	0	1	0	12	80				
STRN4	29888	broad.mit.edu	37	19	47231911	47231911	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47231911G>A	ENST00000263280.6	-	7	1052	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W|STRN4_ENST00000391910.3_Missense_Mutation_p.R335W|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	335						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGCACCGCCGAGGGTCTGGA	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1003-1005)Cgg>Tgg		striatin, calmodulin binding protein 4							66.0	63.0	64.0					19																	47231911		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231911G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1003C>T	19.37:g.47231911G>A	ENSP00000263280:p.Arg335Trp					STRN4_ENST00000263280.6_Missense_Mutation_p.R335W|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W	p.R335W			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1453	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	335					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1003C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050713	0.75960	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.73469	-0.71;-0.75;-0.58	4.64	3.57	0.40892	.	0.172863	0.39834	N	0.001254	T	0.70430	0.3223	N	0.08118	0	0.47698	D	0.999498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.73000	-0.4120	10	0.54805	T	0.06	-20.0636	9.7235	0.40317	0.0:0.0:0.6232:0.3768	.	335;335	F8VYA6;Q9NRL3	.;STRN4_HUMAN	W	335;335;216;216	ENSP00000375777:R335W;ENSP00000263280:R335W;ENSP00000440901:R216W	ENSP00000263280:R335W	R	-	1	2	STRN4	51923751	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	5.495000	0.66912	1.140000	0.42260	0.561000	0.74099	CGG		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			4	54	0	0	0	1	0	4	54				
SASH1	23328	broad.mit.edu	37	6	148855055	148855055	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:148855055G>A	ENST00000367467.3	+	15	2358	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	628					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGAGGCGTCGGAAAGGACGA	0.537																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1882-1884)cGg>cAg		SAM and SH3 domain containing 1							86.0	80.0	82.0					6																	148855055		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148855055G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1883G>A	6.37:g.148855055G>A	ENSP00000356437:p.Arg628Gln						p.R628Q	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	15	2358	+		Ovarian(120;0.0169)	628					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1883G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016519	0.35606	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.29142	1.58	5.36	3.53	0.40419	Src homology-3 domain (1);Sterile alpha motif/pointed domain (1);	0.174167	0.64402	D	0.000008	T	0.11239	0.0274	L	0.49350	1.555	0.25298	N	0.989302	P;P	0.39782	0.525;0.688	B;B	0.28139	0.086;0.086	T	0.05338	-1.0891	10	0.59425	D	0.04	-16.6688	11.9523	0.52962	0.1432:0.0:0.8568:0.0	.	609;628	Q6P4R9;O94885	.;SASH1_HUMAN	Q	628;389;38	ENSP00000356437:R628Q	ENSP00000356437:R628Q	R	+	2	0	SASH1	148896748	1.000000	0.71417	0.843000	0.33291	0.042000	0.13812	4.554000	0.60760	1.346000	0.45694	0.655000	0.94253	CGG		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		10	108	0	0	0	1	0	10	108				
FSD2	123722	broad.mit.edu	37	15	83456014	83456014	+	Missense_Mutation	SNP	C	C	A	rs376897096		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83456014C>A	ENST00000334574.8	-	2	310	c.129G>T	c.(127-129)atG>atT	p.M43I	FSD2_ENST00000541889.1_Missense_Mutation_p.M43I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	43										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTACTTTCCTCATCCTAGTGT	0.483																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(127-129)atG>atT		fibronectin type III and SPRY domain containing 2							163.0	155.0	158.0					15																	83456014		1989	4170	6159	SO:0001583	missense	123722							g.chr15:83456014C>A	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.129G>T	15.37:g.83456014C>A	ENSP00000335651:p.Met43Ile					FSD2_ENST00000541889.1_Missense_Mutation_p.M43I	p.M43I			A1L4K1	FSD2_HUMAN			2	310	-			43					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.129G>T	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488570	0.04352	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.44881	0.91;0.91	4.74	-0.604	0.11626	.	1.516800	0.03722	N	0.252019	T	0.31358	0.0794	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10042	-1.0647	10	0.17369	T	0.5	-1.0585	5.3247	0.15901	0.0:0.4083:0.266:0.3257	.	43;43	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	43	ENSP00000335651:M43I;ENSP00000444078:M43I	ENSP00000335651:M43I	M	-	3	0	FSD2	81253068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.303000	0.08210	-0.269000	0.09298	-0.150000	0.13652	ATG		0.483	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		15	145	1	0	0.000308642	1	0.000324047	15	145				
CLMN	79789	broad.mit.edu	37	14	95670573	95670573	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:95670573C>T	ENST00000298912.4	-	9	1226	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	371					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A371A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGTCTGACAGCGCATGGCTGG	0.542																																						ENST00000298912.4																			1	Substitution - coding silent(1)	p.A371A(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1111-1113)gcG>gcA		calmin (calponin-like, transmembrane)							122.0	120.0	121.0					14																	95670573		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95670573C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1113G>A	14.37:g.95670573C>T							p.A371A	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1226	-			371					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.1113G>A	CCDS9933.1																																																																																				0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			10	88	0	0	0	1	0	10	88				
CHN1	1123	broad.mit.edu	37	2	175742857	175742857	+	Splice_Site	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:175742857C>T	ENST00000409900.3	-	6	574		c.e6-1		CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Splice_Site	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ACTTCCAAATCTGCCTCAATG	0.378			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.e6-1		chimerin 1							98.0	90.0	92.0					2																	175742857		1872	4106	5978	SO:0001630	splice_region_variant	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175742857C>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.261-1G>A	2.37:g.175742857C>T						CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Splice_Site		NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		6	574	-								A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Splice_Site	SNP	ENST00000409900.3	37		CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952981	0.73902	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0728	0.89415	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHN1	175451103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.505000	0.84491	0.591000	0.81541	.		0.378	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822	Intron	3	28	0	0	0	1	0	3	28				
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	PDCD2L_ENST00000587065.2_5'UTR|RN7SL154P_ENST00000578043.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453																																						ENST00000246535.3																			0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(901-903)Cag>Tag		programmed cell death 2-like							139.0	141.0	140.0					19																	34912527		2203	4300	6503	SO:0001587	stop_gained	84306					cytoplasm		g.chr19:34912527C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.901C>T	19.37:g.34912527C>T	ENSP00000246535:p.Gln301*					PDCD2L_ENST00000587065.2_5'UTR	p.Q301*	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	948	+	Esophageal squamous(110;0.162)		301						Nonsense_Mutation	SNP	ENST00000246535.3	37	c.901C>T	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455799	0.96223	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5174	19.208	0.93742	0.0:1.0:0.0:0.0	.	.	.	.	X	301	.	ENSP00000246535:Q301X	Q	+	1	0	PDCD2L	39604367	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.732000	0.68563	2.843000	0.97960	0.585000	0.79938	CAG		0.453	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		16	145	0	0	0	1	0	16	145				
ZHX1	11244	broad.mit.edu	37	8	124267621	124267621	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:124267621T>C	ENST00000522655.1	-	3	1106	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.N189S			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	189					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCCACTTTATTTTTCATCAT	0.353																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(565-567)aAt>aGt		zinc fingers and homeoboxes 1							98.0	101.0	100.0					8																	124267621		2203	4299	6502	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267621T>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.566A>G	8.37:g.124267621T>C	ENSP00000428821:p.Asn189Ser					ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522655.1_Missense_Mutation_p.N189S|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.N189S	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1183	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		189					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.566A>G	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	T	4.197	0.035340	0.08148	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.48201	0.82;0.82;0.82	5.66	0.466	0.16716	.	0.312534	0.32231	N	0.006381	T	0.20820	0.0501	.	.	.	0.30490	N	0.771437	B	0.02656	0.0	B	0.04013	0.001	T	0.26815	-1.0092	9	0.07482	T	0.82	-8.6429	6.5878	0.22630	0.0:0.2424:0.1177:0.6399	.	189	Q9UKY1	ZHX1_HUMAN	S	189	ENSP00000297857:N189S;ENSP00000378938:N189S;ENSP00000428821:N189S	ENSP00000297857:N189S	N	-	2	0	ZHX1	124336802	0.999000	0.42202	0.991000	0.47740	0.985000	0.73830	0.851000	0.27751	0.117000	0.18138	0.454000	0.30748	AAT		0.353	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			13	132	0	0	0	1	0	13	132				
IKZF3	22806	broad.mit.edu	37	17	37922297	37922297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:37922297C>T	ENST00000346872.3	-	8	1337	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	426					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGAGGAGTTCGTAAGAGCGG	0.552																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1276-1278)Gaa>Aaa		IKAROS family zinc finger 3 (Aiolos)							144.0	140.0	142.0					17																	37922297		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922297C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1276G>A	17.37:g.37922297C>T	ENSP00000344544:p.Glu426Lys					IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K	p.E426K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1337	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		426					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1276G>A	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515854	0.85495	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.10099	3.35;3.38;3.17;2.91;3.57;3.17;3.28;3.27;3.16;4.2	5.72	5.72	0.89469	.	0.096053	0.45606	D	0.000359	T	0.22513	0.0543	M	0.61703	1.905	0.80722	D	1	P;D;P;D;D;P;B;P;B;B;P;P;B	0.58970	0.939;0.958;0.891;0.958;0.984;0.622;0.337;0.693;0.293;0.313;0.482;0.878;0.108	B;P;B;B;P;B;B;B;B;B;B;B;B	0.48770	0.315;0.45;0.266;0.328;0.589;0.192;0.105;0.178;0.135;0.192;0.105;0.14;0.043	T	0.00232	-1.1895	10	0.62326	D	0.03	-7.7106	19.8646	0.96799	0.0:1.0:0.0:0.0	.	339;205;244;292;283;392;348;331;387;370;387;353;426	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	K	426;331;292;244;283;339;205;392;387;348;387;370	ENSP00000367180:E292K;ENSP00000377741:E244K;ENSP00000367179:E283K;ENSP00000367194:E339K;ENSP00000367188:E205K;ENSP00000438972:E392K;ENSP00000345622:E387K;ENSP00000341977:E348K;ENSP00000344471:E387K;ENSP00000420463:E370K	ENSP00000341977:E348K	E	-	1	0	IKZF3	35175823	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	4.835000	0.62781	2.702000	0.92279	0.655000	0.94253	GAA		0.552	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		13	149	0	0	0	1	0	13	149				
FAM154B	283726	broad.mit.edu	37	15	82575356	82575356	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:82575356G>T	ENST00000339465.5	+	3	1219	c.1150G>T	c.(1150-1152)Ggt>Tgt	p.G384C	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.G369C	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	384										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAATTCCCAAGGTCATAAATT	0.403																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(1150-1152)Ggt>Tgt		family with sequence similarity 154, member B							50.0	51.0	51.0					15																	82575356		2202	4300	6502	SO:0001583	missense	283726							g.chr15:82575356G>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1150G>T	15.37:g.82575356G>T	ENSP00000340445:p.Gly384Cys					FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.G369C	p.G384C	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN			3	1219	+			384					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.1150G>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958725	0.53400	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.69435	0.05;-0.4	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000003	T	0.81997	0.4941	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.85879	0.1421	10	0.87932	D	0	-16.5094	16.1786	0.81885	0.0:0.0:1.0:0.0	.	369;384	B4E2M2;Q658L1	.;F154B_HUMAN	C	384;369	ENSP00000340445:G384C;ENSP00000403743:G369C	ENSP00000340445:G384C	G	+	1	0	FAM154B	80362411	1.000000	0.71417	0.783000	0.31826	0.287000	0.27160	5.002000	0.63952	1.878000	0.54408	0.398000	0.26397	GGT		0.403	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		5	74	1	0	0.014758	1	0.0149293	5	74				
FBN3	84467	broad.mit.edu	37	19	8181655	8181655	+	Silent	SNP	G	G	A	rs138173924		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:8181655G>A	ENST00000600128.1	-	29	4029	c.3615C>T	c.(3613-3615)cgC>cgT	p.R1205R	FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R			Q75N90	FBN3_HUMAN	fibrillin 3	1205	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACAAACGCGGGGGTTCT	0.592													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17503	0.0		0.0	False		,,,				2504	0.0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3613-3615)cgC>cgT		fibrillin 3							98.0	82.0	87.0					19																	8181655		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181655G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3615C>T	19.37:g.8181655G>A						FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R	p.R1205R			Q75N90	FBN3_HUMAN			29	4029	-			1205			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3615C>T	CCDS12196.1																																																																																				0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	78	0	0	0	1	0	5	78				
FOXJ3	22887	broad.mit.edu	37	1	42655054	42655054	+	Missense_Mutation	SNP	G	G	A	rs61753350		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:42655054G>A	ENST00000372572.1	-	12	1684	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	458					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCAAGTGTCGCATACCAATC	0.403																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1372-1374)gCg>gTg		forkhead box J3							88.0	81.0	83.0					1																	42655054		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42655054G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1373C>T	1.37:g.42655054G>A	ENSP00000361653:p.Ala458Val					FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V	p.A458V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			12	1684	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	458					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.1373C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294716	0.81025	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068	D;D;D;D;D	0.93307	-3.19;-3.19;-3.19;-3.2;-3.19	5.82	5.82	0.92795	.	0.260793	0.37623	N	0.002007	D	0.85004	0.5598	N	0.08118	0	0.44995	D	0.998014	P	0.43352	0.804	B	0.33392	0.163	D	0.88064	0.2796	10	0.72032	D	0.01	.	17.5929	0.88003	0.0:0.0:1.0:0.0	.	458	Q9UPW0	FOXJ3_HUMAN	V	458;458;458;424;458	ENSP00000361654:A458V;ENSP00000361653:A458V;ENSP00000354620:A458V;ENSP00000354449:A424V;ENSP00000439044:A458V	ENSP00000354620:A458V	A	-	2	0	FOXJ3	42427641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.417000	0.90247	2.752000	0.94435	0.655000	0.94253	GCG		0.403	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		4	37	0	0	0	1	0	4	37				
CHST6	4166	broad.mit.edu	37	16	75513534	75513534	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75513534C>G	ENST00000332272.4	-	3	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	CHST6_ENST00000390664.2_Missense_Mutation_p.D65H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	65					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TAGAAGACGTCGGGGTGCTGG	0.687																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(193-195)Gac>Cac		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							40.0	33.0	36.0					16																	75513534		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513534C>G	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.193G>C	16.37:g.75513534C>G	ENSP00000328983:p.Asp65His					CHST6_ENST00000390664.2_Missense_Mutation_p.D65H|RP11-77K12.4_ENST00000530512.3_RNA	p.D65H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	372	-			65					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.193G>C	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997538	0.35226	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99784	-6.74;-6.74	4.56	2.59	0.31030	Sulfotransferase domain (1);	0.259988	0.35013	N	0.003513	D	0.99635	0.9866	M	0.82323	2.585	0.09310	N	0.999993	D	0.76494	0.999	D	0.72982	0.979	D	0.99865	1.1088	10	0.66056	D	0.02	.	8.7442	0.34575	0.0:0.8103:0.0:0.1897	.	65	Q9GZX3	CHST6_HUMAN	H	65	ENSP00000328983:D65H;ENSP00000375079:D65H	ENSP00000328983:D65H	D	-	1	0	CHST6	74071035	0.374000	0.25081	0.011000	0.14972	0.451000	0.32288	1.699000	0.37804	0.369000	0.24510	0.591000	0.81541	GAC		0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		4	43	0	0	0	1	0	4	43				
CD109	135228	broad.mit.edu	37	6	74520797	74520797	+	Missense_Mutation	SNP	C	C	T	rs528060701		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:74520797C>T	ENST00000287097.5	+	28	3741	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	CD109_ENST00000437994.2_Missense_Mutation_p.T1210M|CD109_ENST00000422508.2_Missense_Mutation_p.T1133M			Q6YHK3	CD109_HUMAN	CD109 molecule	1210					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCGTGACGGGGCCTAGC	0.458													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3628-3630)aCg>aTg		CD109 molecule							116.0	109.0	112.0					6																	74520797		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74520797C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3629C>T	6.37:g.74520797C>T	ENSP00000287097:p.Thr1210Met					CD109_ENST00000422508.2_Missense_Mutation_p.T1133M|CD109_ENST00000287097.5_Missense_Mutation_p.T1210M	p.T1210M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			28	4060	+			1210					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3629C>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	c	2.361	-0.346564	0.05208	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.25749	1.79;1.99;1.78	5.2	-10.4	0.00318	.	0.915680	0.09490	N	0.795024	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B;B;B	0.24576	0.106;0.104;0.008	B;B;B	0.26094	0.03;0.066;0.009	T	0.26224	-1.0109	10	0.27082	T	0.32	.	11.3033	0.49320	0.1679:0.576:0.0:0.2561	.	1133;1210;1210	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	M	1210;1133;1210	ENSP00000388062:T1210M;ENSP00000404475:T1133M;ENSP00000287097:T1210M	ENSP00000287097:T1210M	T	+	2	0	CD109	74577518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.352000	0.01091	-2.326000	0.00637	-2.133000	0.00342	ACG		0.458	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		8	81	0	0	0	1	0	8	81				
BCAN	63827	broad.mit.edu	37	1	156617318	156617318	+	Missense_Mutation	SNP	G	G	A	rs372404921		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:156617318G>A	ENST00000329117.5	+	4	821	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	162	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTACCGAGAGGGCTCT	0.652																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(484-486)cGa>cAa		brevican		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	46.0	48.0	48.0		485,485	4.3	1.0	1		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCAN	NM_021948.4,NM_198427.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/912,162/672	156617318	1,13005	2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617318G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.485G>A	1.37:g.156617318G>A	ENSP00000331210:p.Arg162Gln					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q	p.R162Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			4	821	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		162			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.485G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186459	0.94885	0.0	1.16E-4	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	4.26	4.26	0.50523	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000060	T	0.16727	0.0402	L	0.39898	1.24	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.01648	-1.1304	10	0.87932	D	0	-13.6486	15.4026	0.74852	0.0:0.0:1.0:0.0	.	162;162	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	162;162;60;162	ENSP00000331210:R162Q;ENSP00000389898:R162Q;ENSP00000401709:R60Q;ENSP00000354925:R162Q	ENSP00000331210:R162Q	R	+	2	0	BCAN	154883942	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.555000	0.98123	2.187000	0.69744	0.442000	0.29010	CGA		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		6	41	0	0	0	1	0	6	41				
IGF2R	3482	broad.mit.edu	37	6	160494801	160494801	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:160494801G>A	ENST00000356956.1	+	35	5108	c.4960G>A	c.(4960-4962)Gtg>Atg	p.V1654M		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1654					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CGAATGTTCCGTGAGGAATGG	0.403																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4960-4962)Gtg>Atg		insulin-like growth factor 2 receptor							159.0	137.0	145.0					6																	160494801		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494801G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4960G>A	6.37:g.160494801G>A	ENSP00000349437:p.Val1654Met						p.V1654M	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	35	5108	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1654					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4960G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440347	0.83993	.	.	ENSG00000197081	ENST00000356956	T	0.02890	4.12	5.7	5.7	0.88788	Mannose-6-phosphate receptor, binding (1);	0.131705	0.51477	D	0.000095	T	0.14657	0.0354	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01074	-1.1460	10	0.72032	D	0.01	-1.9753	19.8351	0.96655	0.0:0.0:1.0:0.0	.	1654	P11717	MPRI_HUMAN	M	1654	ENSP00000349437:V1654M	ENSP00000349437:V1654M	V	+	1	0	IGF2R	160414791	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	8.645000	0.91049	2.687000	0.91594	0.655000	0.94253	GTG		0.403	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		6	46	0	0	0	1	0	6	46				
COL14A1	7373	broad.mit.edu	37	8	121379412	121379412	+	Missense_Mutation	SNP	C	C	G	rs377566608		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:121379412C>G	ENST00000297848.3	+	46	5350	c.5080C>G	c.(5080-5082)Cta>Gta	p.L1694V	COL14A1_ENST00000247781.3_Missense_Mutation_p.L1599V|COL14A1_ENST00000309791.4_Missense_Mutation_p.L1694V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ttaaaCAGGTCTAACTGGTAT	0.383																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(5080-5082)Cta>Gta		collagen, type XIV, alpha 1							33.0	34.0	34.0					8																	121379412		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121379412C>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5080C>G	8.37:g.121379412C>G	ENSP00000297848:p.Leu1694Val					COL14A1_ENST00000309791.4_Missense_Mutation_p.L1694V|COL14A1_ENST00000247781.3_Missense_Mutation_p.L1599V	p.L1694V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		46	5350	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1694			Triple-helical region 2 (COL1).			Missense_Mutation	SNP	ENST00000297848.3	37	c.5080C>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538177	0.45176	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.94046	-3.2;-3.2;-3.2;-3.34	5.36	2.51	0.30379	.	0.257902	0.31697	N	0.007219	D	0.91472	0.7308	L	0.41415	1.275	0.80722	D	1	P	0.37688	0.605	P	0.50231	0.635	D	0.86510	0.1809	10	0.29301	T	0.29	.	7.3027	0.26430	0.0:0.5449:0.0:0.4551	.	1694	Q05707	COEA1_HUMAN	V	1694;1694;1599;41	ENSP00000311809:L1694V;ENSP00000297848:L1694V;ENSP00000247781:L1599V;ENSP00000403640:L41V	ENSP00000247781:L1599V	L	+	1	2	COL14A1	121448593	1.000000	0.71417	0.914000	0.36105	0.714000	0.41099	0.805000	0.27112	0.736000	0.32559	-0.142000	0.14014	CTA		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		5	41	0	0	0	1	0	5	41				
N4BP2L2	10443	broad.mit.edu	37	13	33017343	33017343	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:33017343A>G	ENST00000504114.1	-	6	1377	c.1286T>C	c.(1285-1287)aTa>aCa	p.I429T	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.I429T|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCATTTCCTATCAGTAGTTT	0.418																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1285-1287)aTa>aCa		NEDD4 binding protein 2-like 2							71.0	67.0	68.0					13																	33017343		1882	4123	6005	SO:0001583	missense	10443							g.chr13:33017343A>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1286T>C	13.37:g.33017343A>G	ENSP00000427477:p.Ile429Thr					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.I429T|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron	p.I429T	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1390	-		Lung SC(185;0.0262)	100					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1286T>C		.	.	.	.	.	.	.	.	.	.	A	14.98	2.696674	0.48202	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.83	1.66	0.24008	.	1.493570	0.03612	N	0.234905	T	0.38719	0.1051	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.33940	0.211;0.211;0.264;0.433	B;B;B;B	0.30029	0.04;0.04;0.068;0.11	T	0.27673	-1.0067	9	0.72032	D	0.01	-7.3223	4.1269	0.10131	0.6087:0.0:0.2257:0.1656	.	429;444;327;327	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	T	327;356;429;429;444	.	ENSP00000350104:I429T	I	-	2	0	N4BP2L2;RP11-298P3.4	31915343	0.292000	0.24362	0.262000	0.24481	0.921000	0.55340	1.709000	0.37909	0.033000	0.15463	0.528000	0.53228	ATA		0.418	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		10	52	0	0	0	1	0	10	52				
PCDHGB1	56104	broad.mit.edu	37	5	140731194	140731194	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140731194A>G	ENST00000523390.1	+	1	1367	c.1367A>G	c.(1366-1368)cAc>cGc	p.H456R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGTGGTCCACGTGTCTGAG	0.562																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1366-1368)cAc>cGc									70.0	80.0	76.0					5																	140731194		2131	4250	6381	SO:0001583	missense	56104							g.chr5:140731194A>G	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1367A>G	5.37:g.140731194A>G	ENSP00000429273:p.His456Arg					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.H456R	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1367	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1367A>G	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	10.35	1.325108	0.24080	.	.	ENSG00000254221	ENST00000523390	T	0.01665	4.7	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03915	0.0110	N	0.11673	0.155	0.19575	N	0.999963	P;P	0.49185	0.732;0.92	P;P	0.62560	0.586;0.904	T	0.53549	-0.8423	9	0.66056	D	0.02	.	15.5567	0.76200	1.0:0.0:0.0:0.0	.	456;456	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	R	456	ENSP00000429273:H456R	ENSP00000429273:H456R	H	+	2	0	PCDHGB1	140711378	0.002000	0.14202	0.435000	0.26784	0.028000	0.11728	1.857000	0.39399	2.212000	0.71576	0.460000	0.39030	CAC		0.562	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		5	63	0	0	0	1	0	5	63				
FAM86DP	692099	broad.mit.edu	37	3	75471362	75471362	+	RNA	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:75471362G>A	ENST00000459803.1	-	0	1779					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GAGTGTCAGGGCAAACCCTTT	0.587																																						ENST00000459803.1																			0																																																			692099							g.chr3:75471362G>A	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471362G>A								NR_024241.1						0	1779	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.587	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	17	0	0	0	1	0	4	17				
GALNT1	2589	broad.mit.edu	37	18	33269223	33269223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:33269223G>A	ENST00000269195.5	+	6	1050	c.947G>A	c.(946-948)tGg>tAg	p.W316*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	316	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGGATATTTGGGGAGGAGAA	0.333																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(946-948)tGg>tAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							81.0	82.0	82.0					18																	33269223		2203	4300	6503	SO:0001587	stop_gained	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33269223G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.947G>A	18.37:g.33269223G>A	ENSP00000269195:p.Trp316*					GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256*	p.W316*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			6	1050	+			316			Catalytic subdomain B.		Q86TJ7|Q9UM86	Nonsense_Mutation	SNP	ENST00000269195.5	37	c.947G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	39	7.773962	0.98483	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3745	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	X	316;316;256	.	ENSP00000269195:W316X	W	+	2	0	GALNT1	31523221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.692000	0.91855	0.591000	0.81541	TGG		0.333	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		7	81	0	0	0	1	0	7	81				
SHQ1	55164	broad.mit.edu	37	3	72799729	72799729	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:72799729G>A	ENST00000325599.8	-	11	1579	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	SHQ1_ENST00000463369.1_Silent_p.L452L|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	480	Ser-rich.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GACTATCTTTGAGTTCATCTT	0.468																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1438-1440)ctC>ctT		SHQ1, H/ACA ribonucleoprotein assembly factor							113.0	104.0	107.0					3																	72799729		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799729G>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1440C>T	3.37:g.72799729G>A						SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.L452L	p.L480L	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1579	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	480			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.1440C>T	CCDS33788.1																																																																																				0.468	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		7	111	0	0	0	1	0	7	111				
SLC23A2	9962	broad.mit.edu	37	20	4843461	4843461	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:4843461C>T	ENST00000379333.1	-	14	1841	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	SLC23A2_ENST00000338244.1_Silent_p.P483P|SLC23A2_ENST00000424750.2_Silent_p.P369P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	483					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACAGGATCCGGAAGGGACG	0.557																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1447-1449)ccG>ccA		solute carrier family 23 (ascorbic acid transporter), member 2							69.0	68.0	68.0					20																	4843461		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4843461C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1449G>A	20.37:g.4843461C>T						SLC23A2_ENST00000338244.1_Silent_p.P483P|SLC23A2_ENST00000424750.2_Silent_p.P369P	p.P483P	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			14	1841	-			483					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.1449G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030754	0.02045	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.33440	0.0863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46992	-0.9151	4	.	.	.	-20.0555	3.2487	0.06806	0.1558:0.1553:0.1769:0.5121	.	.	.	.	R	240	.	.	G	-	1	0	SLC23A2	4791461	0.000000	0.05858	0.009000	0.14445	0.081000	0.17604	-3.209000	0.00557	-3.393000	0.00172	-1.170000	0.01741	GGA		0.557	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			11	67	0	0	0	1	0	11	67				
SPTBN1	6711	broad.mit.edu	37	2	54856884	54856884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:54856884G>A	ENST00000356805.4	+	14	2894	c.2613G>A	c.(2611-2613)tgG>tgA	p.W871*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.W858*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	871					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGCAGTGGCTCAACAACA	0.602																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2572-2574)tgG>tgA		spectrin, beta, non-erythrocytic 1							41.0	40.0	40.0					2																	54856884		2203	4300	6503	SO:0001587	stop_gained	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856884G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2613G>A	2.37:g.54856884G>A	ENSP00000349259:p.Trp871*					SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.W871*	p.W858*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2959	+			871					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.2574G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	42	9.744830	0.99253	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7768	0.96398	0.0:0.0:1.0:0.0	.	.	.	.	X	871;858	.	ENSP00000334156:W858X	W	+	3	0	SPTBN1	54710388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.698000	0.92095	0.650000	0.86243	TGG		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			7	36	0	0	0	1	0	7	36				
CTAGE5	4253	broad.mit.edu	37	14	39734617	39734617	+	5'Flank	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:39734617G>A	ENST00000280083.3	+	0	0				CTAGE5_ENST00000396158.2_5'Flank|RP11-407N17.5_ENST00000553520.1_RNA|CTAGE5_ENST00000348007.3_5'Flank|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_5'Flank|RP11-407N17.3_ENST00000553728.1_Intron|RP11-407N17.3_ENST00000603904.1_5'Flank|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E7K|CTAGE5_ENST00000341502.5_5'Flank|RP11-407N17.5_ENST00000605298.1_RNA|CTAGE5_ENST00000556148.1_5'Flank			O15320	CTGE5_HUMAN	CTAGE family, member 5						positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GAAAAGTCCAGAGGAAGAGGT	0.343																																						ENST00000341749.3																		CTAGE5/SIP1(2)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(19-21)Gag>Aag		CTAGE family, member 5							54.0	58.0	57.0					14																	39734617		2203	4300	6503	SO:0001631	upstream_gene_variant	4253						enzyme activator activity|protein binding	g.chr14:39734617G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258		14.37:g.39734617G>A	Exception_encountered					CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Intron	p.E7K	NM_203354.2	NP_976229.1	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	1	122	+	Hepatocellular(127;0.213)		0					B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.19G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.296007	0.01375	.	.	ENSG00000150527	ENST00000554392;ENST00000555716;ENST00000341749;ENST00000382245	T	0.07688	3.17	5.02	3.2	0.36748	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.37439	D	0.914344	B;B	0.13594	0.004;0.008	B;B	0.16289	0.004;0.015	T	0.41840	-0.9486	8	.	.	.	.	7.7948	0.29141	0.1936:0.0:0.8064:0.0	.	7;7	F8W9E1;G3XAC5	.;.	K	7	ENSP00000343897:E7K	.	E	+	1	0	CTAGE5	38804368	0.992000	0.36948	0.609000	0.28983	0.006000	0.05464	2.817000	0.48034	0.651000	0.30788	-0.237000	0.12165	GAG		0.343	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		3	32	0	0	0	1	0	3	32				
FAT1	2195	broad.mit.edu	37	4	187530965	187530965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:187530965G>A	ENST00000441802.2	-	15	10267	c.10058C>T	c.(10057-10059)tCt>tTt	p.S3353F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATGACAGACTGCTCAAG	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10057-10059)tCt>tTt		FAT atypical cadherin 1							116.0	118.0	117.0					4																	187530965		1958	4146	6104	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530965G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10058C>T	4.37:g.187530965G>A	ENSP00000406229:p.Ser3353Phe	HNSCC(5;0.00058)					p.S3353F	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			15	10267	-			3353			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10058C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002595	0.35320	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03181	4.02	4.81	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.164239	0.56097	D	0.000040	T	0.09730	0.0239	L	0.35288	1.05	0.53005	D	0.999961	P	0.47677	0.899	P	0.57204	0.815	T	0.11108	-1.0601	10	0.54805	T	0.06	.	18.0764	0.89428	0.0:0.0:1.0:0.0	.	3353	Q14517	FAT1_HUMAN	F	3353;3355	ENSP00000406229:S3353F	ENSP00000260147:S3355F	S	-	2	0	FAT1	187767959	1.000000	0.71417	0.977000	0.42913	0.009000	0.06853	7.747000	0.85070	2.505000	0.84491	0.650000	0.86243	TCT		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	24	0	0	0	1	0	7	24				
OLFML2B	25903	broad.mit.edu	37	1	161993108	161993108	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:161993108G>A	ENST00000294794.3	-	1	536	c.113C>T	c.(112-114)gCg>gTg	p.A38V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	38					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCGCAGGCGCCACTGTCTG	0.597																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(112-114)gCg>gTg		olfactomedin-like 2B							124.0	107.0	113.0					1																	161993108		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161993108G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.113C>T	1.37:g.161993108G>A	ENSP00000294794:p.Ala38Val					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V	p.A38V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		1	536	-	all_hematologic(112;0.156)		38					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.113C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598491	0.46318	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87887	-2.31;-2.31	4.96	0.766	0.18476	.	.	.	.	.	T	0.61223	0.2330	L	0.29908	0.895	0.22591	N	0.998952	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.41431	-0.9509	8	0.66056	D	0.02	.	3.2636	0.06858	0.0858:0.1486:0.4595:0.3061	.	38;38	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	38	ENSP00000294794:A38V;ENSP00000356917:A38V	ENSP00000294794:A38V	A	-	2	0	OLFML2B	160259732	0.000000	0.05858	0.262000	0.24481	0.761000	0.43186	0.104000	0.15313	-0.012000	0.14223	0.561000	0.74099	GCG		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		8	63	0	0	0	1	0	8	63				
PLEKHA8	84725	broad.mit.edu	37	7	30094365	30094365	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:30094365G>A	ENST00000449726.1	+	8	1187	c.837G>A	c.(835-837)ctG>ctA	p.L279L	PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	279					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TGGAAAACCTGAAAAATCATG	0.343																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(835-837)ctG>ctA		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							133.0	129.0	131.0					7																	30094365		2203	4300	6503	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094365G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.837G>A	7.37:g.30094365G>A						PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L	p.L279L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			8	1187	+			279					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.837G>A	CCDS56473.1																																																																																				0.343	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		19	101	0	0	0	1	0	19	101				
IGSF1	3547	broad.mit.edu	37	X	130409661	130409661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:130409661C>T	ENST00000361420.3	-	16	3054	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.R983Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	992	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACCGGCCCTCGGCACCAGAG	0.522																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2947-2949)cGa>cAa		immunoglobulin superfamily, member 1							116.0	104.0	108.0					X																	130409661		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409661C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2975G>A	X.37:g.130409661C>T	ENSP00000355010:p.Arg992Gln					IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q	p.R983Q			Q8N6C5	IGSF1_HUMAN			22	3858	-			992			Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2948G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.283	-0.985347	0.02180	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.19	2.41	0.29592	Immunoglobulin-like fold (1);	0.627180	0.13677	N	0.370469	T	0.02970	0.0088	N	0.02315	-0.6	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.44907	-0.9297	10	0.06236	T	0.91	.	4.0535	0.09806	0.0:0.1105:0.2076:0.6819	.	983;436;992	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	983;992;983;997	ENSP00000359947:R983Q;ENSP00000355010:R992Q;ENSP00000359941:R983Q;ENSP00000359940:R997Q	ENSP00000355010:R992Q	R	-	2	0	IGSF1	130237342	0.996000	0.38824	1.000000	0.80357	0.622000	0.37654	0.281000	0.18810	0.842000	0.35045	-0.513000	0.04457	CGA		0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			16	162	0	0	0	1	0	16	162				
CSMD3	114788	broad.mit.edu	37	8	113318368	113318368	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:113318368C>A	ENST00000297405.5	-	51	8183	c.7939G>T	c.(7939-7941)Gac>Tac	p.D2647Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2647	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAAATAGTCTGTTGTTAGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7939-7941)Gac>Tac		CUB and Sushi multiple domains 3							132.0	119.0	123.0					8																	113318368		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318368C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7939G>T	8.37:g.113318368C>A	ENSP00000297405:p.Asp2647Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y	p.D2647Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			51	8183	-			2647			Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7939G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708890	0.89018	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.53206	0.1782	M	0.70108	2.13	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.978;0.987;0.964	T	0.54563	-0.8275	10	0.72032	D	0.01	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	2543;2647;2607	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2607;2647;1917;2543;2577	ENSP00000345799:D2607Y;ENSP00000297405:D2647Y;ENSP00000341558:D1917Y;ENSP00000412263:D2543Y;ENSP00000343124:D2577Y	ENSP00000297405:D2647Y	D	-	1	0	CSMD3	113387544	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.792000	0.85828	2.591000	0.87537	0.557000	0.71058	GAC		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	67	1	0	0.00909568	1	0.00924727	4	67				
POMGNT1	55624	broad.mit.edu	37	1	46655573	46655573	+	Nonsense_Mutation	SNP	G	G	A	rs386834018		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:46655573G>A	ENST00000371984.3	-	20	1895	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	POMGNT1_ENST00000371992.1_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558*|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000396420.3_3'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	580					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTCCATTCGAATAAAGGCC	0.547																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	GRCh37	CM077960	POMGNT1	M		c.(1738-1740)Cga>Tga		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							91.0	79.0	83.0					1																	46655573		2203	4300	6503	SO:0001587	stop_gained	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46655573G>A		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1738C>T	1.37:g.46655573G>A	ENSP00000361052:p.Arg580*					POMGNT1_ENST00000371984.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558*	p.R580*	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			20	2388	-	Acute lymphoblastic leukemia(166;0.155)		580					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Nonsense_Mutation	SNP	ENST00000371984.3	37	c.1738C>T	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	38	7.196904	0.98129	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	.	.	.	5.92	5.92	0.95590	.	0.183525	0.44902	D	0.000416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.5103	13.2292	0.59933	0.0:0.0:0.7385:0.2615	.	.	.	.	X	580;580;558;580	.	ENSP00000361052:R580X	R	-	1	2	POMGNT1	46428160	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.685000	0.74543	2.795000	0.96236	0.655000	0.94253	CGA		0.547	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		4	33	0	0	0	1	0	4	33				
TAF9B	51616	broad.mit.edu	37	X	77395061	77395061	+	Silent	SNP	G	G	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:77395061G>T	ENST00000341864.5	-	1	142	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	16					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CACTTACCAAGGCATCTCTCG	0.657																																						ENST00000341864.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						c.(46-48)gcC>gcA		TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa							118.0	98.0	105.0					X																	77395061		2203	4296	6499	SO:0001819	synonymous_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77395061G>T	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.48C>A	X.37:g.77395061G>T							p.A16A	NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN			1	142	-			16					B2RUZ9|Q9Y2S3	Silent	SNP	ENST00000341864.5	37	c.48C>A	CCDS35340.1																																																																																				0.657	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		10	154	1	0	7.48243e-07	1	8.13597e-07	10	154				
SPHKAP	80309	broad.mit.edu	37	2	228883163	228883163	+	Missense_Mutation	SNP	C	C	A	rs146520315	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228883163C>A	ENST00000392056.3	-	7	2453	c.2407G>T	c.(2407-2409)Ggc>Tgc	p.G803C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	803						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGAAGAGGCCTGGCCTCACT	0.463																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2407-2409)Ggc>Tgc		SPHK1 interactor, AKAP domain containing							431.0	411.0	418.0					2																	228883163		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883163C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2407G>T	2.37:g.228883163C>A	ENSP00000375909:p.Gly803Cys					SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C	p.G803C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2453	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	803					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2407G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367231	0.24771	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12672	2.66;2.67	5.97	3.85	0.44370	.	0.552953	0.19466	N	0.113577	T	0.28234	0.0697	M	0.65975	2.015	0.09310	N	1	B;D	0.71674	0.062;0.998	B;P	0.61592	0.023;0.891	T	0.04386	-1.0955	10	0.66056	D	0.02	.	7.8735	0.29580	0.3864:0.5326:0.0:0.081	.	803;803	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	803	ENSP00000375909:G803C;ENSP00000339886:G803C	ENSP00000339886:G803C	G	-	1	0	SPHKAP	228591407	0.043000	0.20138	0.788000	0.31933	0.178000	0.23041	1.078000	0.30754	1.519000	0.48950	0.655000	0.94253	GGC		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		20	147	1	0	1.28384e-07	1	1.40097e-07	20	147				
NOL4	8715	broad.mit.edu	37	18	31538274	31538274	+	Missense_Mutation	SNP	C	C	T	rs137958344		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:31538274C>T	ENST00000261592.5	-	7	1462	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000269185.4_Missense_Mutation_p.E275K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K|NOL4_ENST00000535475.1_Missense_Mutation_p.E234K|NOL4_ENST00000538587.1_Missense_Mutation_p.E315K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	389						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCATGGTCCTCGTGGTCATCT	0.498																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1165-1167)Gag>Aag		nucleolar protein 4		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	267.0	229.0	242.0		1165,943,1165,310,1165	5.4	1.0	18	dbSNP_134	242	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NOL4	NM_001198546.1,NM_001198547.1,NM_001198548.1,NM_001198549.1,NM_003787.4	56,56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	389/575,315/565,389/537,104/354,389/639	31538274	1,13005	2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538274C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1165G>A	18.37:g.31538274C>T	ENSP00000261592:p.Glu389Lys					NOL4_ENST00000538587.1_Missense_Mutation_p.E315K|NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K|NOL4_ENST00000535475.1_Missense_Mutation_p.E234K|NOL4_ENST00000269185.4_Missense_Mutation_p.E275K	p.E389K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			7	1462	-			389					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1165G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492070	0.64074	2.27E-4	0.0	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.80033	-1.33;-1.33	5.39	5.39	0.77823	.	0.232383	0.36482	N	0.002569	T	0.65133	0.2662	N	0.08118	0	0.42832	D	0.994024	B;P;B;P;B;B;B;B	0.34815	0.238;0.47;0.283;0.47;0.197;0.098;0.087;0.098	B;B;B;B;B;B;B;B	0.24974	0.027;0.057;0.035;0.035;0.035;0.035;0.024;0.018	T	0.70828	-0.4766	10	0.72032	D	0.01	-4.9333	19.1443	0.93458	0.0:1.0:0.0:0.0	.	275;138;104;315;389;104;389;234	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	K	389;275;138;104;234;315	ENSP00000445733:E104K;ENSP00000443472:E315K	ENSP00000261592:E389K	E	-	1	0	NOL4	29792272	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	7.484000	0.81180	2.501000	0.84356	0.557000	0.71058	GAG		0.498	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		13	154	0	0	0	1	0	13	154				
RPL10L	140801	broad.mit.edu	37	14	47120636	47120636	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:47120636T>C	ENST00000298283.3	-	1	392	c.304A>G	c.(304-306)Atg>Gtg	p.M102V		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	102					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAGGACAACATCTTGTTGATG	0.527																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(304-306)Atg>Gtg		ribosomal protein L10-like							69.0	67.0	68.0					14																	47120636		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120636T>C	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.304A>G	14.37:g.47120636T>C	ENSP00000298283:p.Met102Val						p.M102V	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	392	-			102					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.304A>G	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060027	0.76074	.	.	ENSG00000165496	ENST00000298283	T	0.75260	-0.92	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.89959	0.6866	H	0.97806	4.08	0.80722	D	1	P	0.50528	0.936	D	0.63793	0.918	D	0.92586	0.6079	10	0.72032	D	0.01	-49.847	12.1008	0.53783	0.0:0.0:0.0:1.0	.	102	Q96L21	RL10L_HUMAN	V	102	ENSP00000298283:M102V	ENSP00000298283:M102V	M	-	1	0	RPL10L	46190386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.171000	0.68590	0.533000	0.62120	ATG		0.527	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			6	77	0	0	0	1	0	6	77				
NFE2	4778	broad.mit.edu	37	12	54686499	54686499	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:54686499C>T	ENST00000540264.2	-	2	1290	c.781G>A	c.(781-783)Gag>Aag	p.E261K	NFE2_ENST00000553070.1_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|NFE2_ENST00000312156.4_Missense_Mutation_p.E261K			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	261					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCTGGCTCTCTGTCAGCGGG	0.542																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(781-783)Gag>Aag		nuclear factor, erythroid 2							47.0	44.0	45.0					12																	54686499		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686499C>T	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.781G>A	12.37:g.54686499C>T	ENSP00000439120:p.Glu261Lys					NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.E261K|NFE2_ENST00000553070.1_Missense_Mutation_p.E261K	p.E261K			Q16621	NFE2_HUMAN			2	1290	-			261					Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.781G>A	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632558	0.87660	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.42	5.42	0.78866	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.109610	0.64402	D	0.000014	D	0.89354	0.6691	L	0.48362	1.52	0.80722	D	1	P	0.34562	0.457	B	0.31390	0.129	D	0.89615	0.3844	10	0.87932	D	0	-6.23	17.0946	0.86631	0.0:1.0:0.0:0.0	.	261	Q16621	NFE2_HUMAN	K	261	ENSP00000312436:E261K;ENSP00000397185:E261K;ENSP00000439120:E261K;ENSP00000447558:E261K;ENSP00000446929:E261K	ENSP00000312436:E261K	E	-	1	0	NFE2	52972766	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	GAG		0.542	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		4	49	0	0	0	1	0	4	49				
DNM2	1785	broad.mit.edu	37	19	10893656	10893656	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:10893656C>T	ENST00000355667.6	+	6	789	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	DNM2_ENST00000408974.4_Missense_Mutation_p.R237C|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000314646.5_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	237	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGTGGTGAACCGCAGCCAGAA	0.597			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(709-711)Cgc>Tgc		dynamin 2							89.0	64.0	72.0					19																	10893656		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893656C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.709C>T	19.37:g.10893656C>T	ENSP00000347890:p.Arg237Cys					DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000408974.4_Missense_Mutation_p.R237C	p.R237C			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	873	+			237					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.709C>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428840	0.83667	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.41	5.41	0.78517	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.997;1.0	D	0.97216	0.9874	10	0.87932	D	0	-1.7952	12.9998	0.58667	0.1617:0.8383:0.0:0.0	.	237;237;237;237	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	C	226;237;237;237;237;237	ENSP00000386192:R237C;ENSP00000347890:R237C;ENSP00000352721:R237C;ENSP00000373905:R237C;ENSP00000313164:R237C	ENSP00000313164:R237C	R	+	1	0	DNM2	10754656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.537000	0.85549	0.563000	0.77884	CGC		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		9	49	0	0	0	1	0	9	49				
KALRN	8997	broad.mit.edu	37	3	124397074	124397074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:124397074C>T	ENST00000462213.1	+	2	306	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	KALRN_ENST00000291478.5_Missense_Mutation_p.R714W|KALRN_ENST00000360013.3_Missense_Mutation_p.R2411W|KALRN_ENST00000428018.2_Missense_Mutation_p.R682W			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2410					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATGAGAAAGCGGGCGGAAGT	0.483																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7231-7233)Cgg>Tgg		kalirin, RhoGEF kinase							146.0	142.0	143.0					3																	124397074		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124397074C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.82C>T	3.37:g.124397074C>T	ENSP00000418790:p.Arg28Trp					KALRN_ENST00000428018.2_Missense_Mutation_p.R682W|KALRN_ENST00000462213.1_Missense_Mutation_p.R28W|KALRN_ENST00000291478.4_Missense_Mutation_p.R714W	p.R2411W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			50	7358	+			2410					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7231C>T		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476781	0.63849	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.63744	-0.06;0.42;0.42;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.34521	1.04	0.38612	D	0.950924	D;D	0.89917	1.0;0.999	D;P	0.66979	0.948;0.877	T	0.74115	-0.3769	10	0.62326	D	0.03	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	714;2410	C9JQ37;O60229	.;KALRN_HUMAN	W	2411;714;682;28	ENSP00000353109:R2411W;ENSP00000291478:R714W;ENSP00000402419:R682W;ENSP00000418790:R28W	ENSP00000291478:R714W	R	+	1	2	KALRN	125879764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.861000	0.98227	0.655000	0.94253	CGG		0.483	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		23	119	0	0	0	1	0	23	119				
SEMG2	6407	broad.mit.edu	37	20	43851591	43851591	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr20:43851591G>C	ENST00000372769.3	+	2	1408	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAACTGAAGAGAAAATACA	0.378																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1318-1320)Gag>Cag		semenogelin II							78.0	75.0	76.0					20																	43851591		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851591G>C		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1318G>C	20.37:g.43851591G>C	ENSP00000361855:p.Glu440Gln						p.E440Q	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	1408	+		Myeloproliferative disorder(115;0.0122)	440			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1318G>C	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	9.622	1.134156	0.21123	.	.	ENSG00000124157	ENST00000372769	T	0.10573	2.86	1.03	-2.06	0.07298	.	.	.	.	.	T	0.18635	0.0447	L	0.59436	1.845	0.09310	N	1	D;P	0.56287	0.975;0.951	D;P	0.74023	0.982;0.708	T	0.19128	-1.0315	9	0.18710	T	0.47	.	2.8787	0.05640	0.2799:0.3914:0.3288:0.0	.	440;440	A8K6Z6;Q02383	.;SEMG2_HUMAN	Q	440	ENSP00000361855:E440Q	ENSP00000361855:E440Q	E	+	1	0	SEMG2	43285005	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.692000	0.01918	-0.669000	0.05289	-0.344000	0.07964	GAG		0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		11	111	0	0	0	1	0	11	111				
GEMIN7	79760	broad.mit.edu	37	19	45593422	45593422	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:45593422G>A	ENST00000270257.4	+	3	297	c.50G>A	c.(49-51)gGc>gAc	p.G17D	PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000391951.2_Missense_Mutation_p.G17D|CTB-179K24.3_ENST00000586744.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|CTB-179K24.3_ENST00000586556.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	17					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CTGCCCCGGGGCCCTGATGGC	0.557																																						ENST00000270257.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(49-51)gGc>gAc		gem (nuclear organelle) associated protein 7							76.0	84.0	81.0					19																	45593422		2203	4299	6502	SO:0001583	missense	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593422G>A	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.50G>A	19.37:g.45593422G>A	ENSP00000270257:p.Gly17Asp					CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000391951.2_Missense_Mutation_p.G17D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G17D	p.G17D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	297	+		Ovarian(192;0.0728)|all_neural(266;0.112)	17					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.50G>A	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443257	0.83993	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	5.02	5.02	0.67125	.	0.125201	0.53938	D	0.000055	T	0.75133	0.3808	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.77046	-0.2733	9	0.62326	D	0.03	-29.1262	11.7492	0.51839	0.0:0.1782:0.8218:0.0	.	17	Q9H840	GEMI7_HUMAN	D	17	.	ENSP00000270257:G17D	G	+	2	0	GEMIN7	50285262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.248000	0.72418	2.353000	0.79882	0.549000	0.68633	GGC		0.557	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			8	153	0	0	0	1	0	8	153				
ARHGAP1	392	broad.mit.edu	37	11	46717606	46717606	+	Missense_Mutation	SNP	C	C	T	rs566681425	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:46717606C>T	ENST00000311956.4	-	2	149	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	18					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TTCAGAGCCTCGCTGGTGTCA	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.0					ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)Gag>Aag		Rho GTPase activating protein 1							73.0	56.0	62.0					11																	46717606		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46717606C>T	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.52G>A	11.37:g.46717606C>T	ENSP00000310491:p.Glu18Lys						p.E18K	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	2	149	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	18					D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.52G>A	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.25|15.25	2.778215|2.778215	0.49786|0.49786	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000311956;ENST00000443332;ENST00000525488|ENST00000528837	T;T|.	0.30448|.	2.28;1.53|.	5.2|5.2	2.05|2.05	0.26809|0.26809	.|.	0.838308|.	0.10745|.	N|.	0.639028|.	T|T	0.31918|0.31918	0.0812|0.0812	N|N	0.14661|0.14661	0.345|0.345	0.24992|0.24992	N|N	0.991526|0.991526	P;B|.	0.36144|.	0.539;0.027|.	B;B|.	0.22753|.	0.041;0.005|.	T|T	0.21449|0.21449	-1.0245|-1.0245	10|5	0.25106|.	T|.	0.35|.	.|.	16.9092|16.9092	0.86136|0.86136	0.0:0.5165:0.4835:0.0|0.0:0.5165:0.4835:0.0	.|.	18;18|.	B4DPZ4;Q07960|.	.;RHG01_HUMAN|.	K|Q	18|15	ENSP00000310491:E18K;ENSP00000432794:E18K|.	ENSP00000310491:E18K|.	E|R	-|-	1|2	0|0	ARHGAP1|ARHGAP1	46674182|46674182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	1.515000|1.515000	0.35845|0.35845	0.545000|0.545000	0.28902|0.28902	-0.321000|-0.321000	0.08615|0.08615	GAG|CGA		0.562	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		5	20	0	0	0	1	0	5	20				
PDE5A	8654	broad.mit.edu	37	4	120442176	120442176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:120442176G>A	ENST00000354960.3	-	13	2138	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	607	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	ACATTCTTCCGATAATTCTTC	0.348																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1819-1821)Cgg>Tgg		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						148.0	152.0	150.0					4																	120442176		2202	4299	6501	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442176G>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1819C>T	4.37:g.120442176G>A	ENSP00000347046:p.Arg607Trp					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W	p.R607W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			13	2138	-			607			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1819C>T	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271397	0.80469	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.69306	-0.39;-0.31;-0.31	5.93	5.08	0.68730	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.046595	0.85682	D	0.000000	D	0.83995	0.5375	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87157	0.2212	10	0.87932	D	0	.	14.0907	0.64987	0.0:0.0:0.7257:0.2743	.	607;565	O76074;O76074-2	PDE5A_HUMAN;.	W	607;555;565	ENSP00000347046:R607W;ENSP00000377957:R555W;ENSP00000264805:R565W	ENSP00000264805:R565W	R	-	1	2	PDE5A	120661624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.563000	0.53784	1.481000	0.48307	0.655000	0.94253	CGG		0.348	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		10	133	0	0	0	1	0	10	133				
RAPGEF6	51735	broad.mit.edu	37	5	130782325	130782325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:130782325C>T	ENST00000509018.1	-	22	3477	c.3272G>A	c.(3271-3273)cGc>cAc	p.R1091H	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1141H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1091					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGAGCTGCGGCGTGCCCTTTT	0.453																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3271-3273)cGc>cAc		Rap guanine nucleotide exchange factor (GEF) 6							165.0	156.0	159.0					5																	130782325		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130782325C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3272G>A	5.37:g.130782325C>T	ENSP00000421684:p.Arg1091His					RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1141H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H	p.R1091H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	22	3477	-			1091					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3272G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427640	0.96131	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.32023	1.72;1.57;1.57;1.65;1.47;1.52;1.82	5.63	5.63	0.86233	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.995;0.974;0.998;0.999;0.999;1.0;0.961	T	0.62859	-0.6765	10	0.72032	D	0.01	.	19.6634	0.95882	0.0:1.0:0.0:0.0	.	1099;1099;1091;814;1141;1104;1091	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	H	1091;1104;1099;1099;1104;814;1091;1141	ENSP00000421684:R1091H;ENSP00000309298:R1104H;ENSP00000426081:R1099H;ENSP00000296859:R1099H;ENSP00000426910:R814H;ENSP00000311419:R1091H;ENSP00000426948:R1141H	ENSP00000426948:R1141H	R	-	2	0	RAPGEF6;FNIP1	130810224	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.649000	0.89929	0.555000	0.69702	CGC		0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		9	125	0	0	0	1	0	9	125				
SPHKAP	80309	broad.mit.edu	37	2	228881385	228881385	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:228881385G>A	ENST00000392056.3	-	7	4231	c.4185C>T	c.(4183-4185)aaC>aaT	p.N1395N	SPHKAP_ENST00000344657.5_Silent_p.N1395N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1395						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGGGCTGTGGTTTGTAAGAG	0.463																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4183-4185)aaC>aaT		SPHK1 interactor, AKAP domain containing							90.0	95.0	94.0					2																	228881385		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881385G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4185C>T	2.37:g.228881385G>A						SPHKAP_ENST00000344657.5_Silent_p.N1395N	p.N1395N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4231	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1395					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4185C>T	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		25	135	0	0	0	1	0	25	135				
PREX2	80243	broad.mit.edu	37	8	69103989	69103989	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:69103989C>G	ENST00000288368.4	+	36	4656	c.4379C>G	c.(4378-4380)cCa>cGa	p.P1460R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1460					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.P1460Q(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTCACCACCAAACTCCACA	0.313																																						ENST00000288368.4																			1	Substitution - Missense(1)	p.P1460Q(1)	large_intestine(1)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4378-4380)cCa>cGa		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							105.0	105.0	105.0					8																	69103989		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69103989C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4379C>G	8.37:g.69103989C>G	ENSP00000288368:p.Pro1460Arg						p.P1460R	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			36	4656	+			1460					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4379C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648884	0.47362	.	.	ENSG00000046889	ENST00000288368	T	0.58506	0.33	5.48	5.48	0.80851	.	0.120771	0.56097	D	0.000026	T	0.46328	0.1387	N	0.19112	0.55	0.46028	D	0.998821	B	0.30763	0.294	B	0.28709	0.093	T	0.47497	-0.9113	10	0.59425	D	0.04	.	18.7115	0.91658	0.0:1.0:0.0:0.0	.	1460	Q70Z35	PREX2_HUMAN	R	1460	ENSP00000288368:P1460R	ENSP00000288368:P1460R	P	+	2	0	PREX2	69266543	0.996000	0.38824	0.985000	0.45067	0.984000	0.73092	5.662000	0.68032	2.729000	0.93468	0.650000	0.86243	CCA		0.313	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		6	48	0	0	0	1	0	6	48				
SLC35E4	339665	broad.mit.edu	37	22	31033023	31033023	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:31033023A>G	ENST00000343605.4	+	1	1385	c.586A>G	c.(586-588)Acc>Gcc	p.T196A	SLC35E4_ENST00000406566.1_Missense_Mutation_p.T196A|SLC35E4_ENST00000300385.8_Missense_Mutation_p.T196A	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	196	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTCGCAGCCACCTGCCTCCG	0.667																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(586-588)Acc>Gcc		solute carrier family 35, member E4							21.0	25.0	24.0					22																	31033023		2189	4264	6453	SO:0001583	missense	339665					integral to membrane		g.chr22:31033023A>G		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.586A>G	22.37:g.31033023A>G	ENSP00000339626:p.Thr196Ala					SLC35E4_ENST00000406566.1_Missense_Mutation_p.T196A|SLC35E4_ENST00000300385.8_Missense_Mutation_p.T196A	p.T196A	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1385	+			196			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.586A>G	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876012	0.51695	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T	0.62941	-0.01	5.16	5.16	0.70880	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73745	-0.3886	10	0.28530	T	0.3	-19.1738	14.0058	0.64463	1.0:0.0:0.0:0.0	.	196;196	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	A	196;196;196;172	ENSP00000339626:T196A	ENSP00000300385:T196A	T	+	1	0	SLC35E4	29363023	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	5.612000	0.67681	1.950000	0.56595	0.448000	0.29417	ACC		0.667	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		7	43	0	0	0	1	0	7	43				
ZNF438	220929	broad.mit.edu	37	10	31137576	31137576	+	Silent	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:31137576C>A	ENST00000361310.3	-	6	2087	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L	ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000538351.2_Silent_p.L537L|ZNF438_ENST00000442986.1_Silent_p.L586L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000452305.1_Silent_p.L576L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	586					negative regulation of transcription, DNA-templated (GO:0045892)|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(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCACTTCTTTCAGATGGCCAA	0.478																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1609-1611)ctG>ctT		zinc finger protein 438							128.0	118.0	121.0					10																	31137576		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137576C>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1758G>T	10.37:g.31137576C>A						ZNF438_ENST00000361310.3_Silent_p.L586L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L	p.L537L	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2365	-		Prostate(175;0.0587)	586					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1611G>T	CCDS7168.1																																																																																				0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		12	105	1	0	0.000219431	1	0.00023118	12	105				
SIGLEC11	114132	broad.mit.edu	37	19	50462016	50462016	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50462016G>A	ENST00000447370.2	-	7	1337	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	416	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCGGGGTCTGAGGGCTGGGA	0.677																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1246-1248)tCa>tTa		sialic acid binding Ig-like lectin 11							44.0	50.0	48.0					19																	50462016		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462016G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1247C>T	19.37:g.50462016G>A	ENSP00000412361:p.Ser416Leu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L	p.S416L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1337	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	416			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1247C>T	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261936|2.261936	0.39995|0.39995	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.21361	.|2.01	3.1|3.1	2.03|2.03	0.26663|0.26663	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|0.930571	.|0.08982	.|N	.|0.865595	.|T	.|0.32556	.|0.0833	L|L	0.46741|0.46741	1.465|1.465	0.09310|0.09310	N|N	1|1	.|D;P	.|0.58620	.|0.983;0.952	.|P;P	.|0.61201	.|0.885;0.842	.|T	.|0.14364	.|-1.0475	.|10	.|0.44086	.|T	.|0.13	.|.	6.7222|6.7222	0.23336|0.23336	0.1471:0.0:0.8529:0.0|0.1471:0.0:0.8529:0.0	.|.	.|416;416	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	X|L	406|416	.|ENSP00000412361:S416L	.|ENSP00000412361:S416L	Q|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153828|55153828	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.207000|0.207000	0.24258|0.24258	0.050000|0.050000	0.14120|0.14120	0.586000|0.586000	0.29626|0.29626	0.556000|0.556000	0.70494|0.70494	CAG|TCA		0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		12	73	0	0	0	1	0	12	73				
IFT172	26160	broad.mit.edu	37	2	27684340	27684340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:27684340C>T	ENST00000260570.3	-	22	2341	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	746					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCCATCAGCCACTGGTAGT	0.582																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2236-2238)tgG>tgA		intraflagellar transport 172 homolog (Chlamydomonas)							102.0	101.0	101.0					2																	27684340		2203	4300	6503	SO:0001587	stop_gained	26160				cilium assembly	cilium	binding	g.chr2:27684340C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2238G>A	2.37:g.27684340C>T	ENSP00000260570:p.Trp746*						p.W746*	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			22	2341	-	Acute lymphoblastic leukemia(172;0.155)		746					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Nonsense_Mutation	SNP	ENST00000260570.3	37	c.2238G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921739	0.97936	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.29	5.29	0.74685	.	0.226241	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7499	13.257	0.60085	0.0:0.8403:0.1597:0.0	.	.	.	.	X	746	.	ENSP00000260570:W746X	W	-	3	0	IFT172	27537844	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.693000	0.61753	2.481000	0.83766	0.585000	0.79938	TGG		0.582	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	115	0	0	0	1	0	9	115				
KCNJ11	3767	broad.mit.edu	37	11	17408585	17408585	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:17408585C>T	ENST00000339994.4	-	1	1621	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	KCNJ11_ENST00000528731.1_Missense_Mutation_p.D265N|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	352					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	AGGCTGTGGTCCTCATCAAGC	0.622											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(1054-1056)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 11							117.0	107.0	111.0					11																	17408585		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408585C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1054G>A	11.37:g.17408585C>T	ENSP00000345708:p.Asp352Asn		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.D265N	p.D352N	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1621	-			265					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.1054G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239751	0.22711	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.93712	-3.27;-3.27	5.43	4.52	0.55395	.	0.220530	0.37348	N	0.002135	D	0.82458	0.5041	N	0.03608	-0.345	0.39619	D	0.970006	B	0.02656	0.0	B	0.09377	0.004	T	0.78145	-0.2318	10	0.15066	T	0.55	.	13.5846	0.61921	0.0:0.9254:0.0:0.0746	.	352	B2RC52	.	N	352;265	ENSP00000345708:D352N;ENSP00000434755:D265N	ENSP00000345708:D352N	D	-	1	0	KCNJ11	17365161	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.986000	0.40677	2.548000	0.85928	0.561000	0.74099	GAC		0.622	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		7	79	0	0	0	1	0	7	79				
KCNA3	3738	broad.mit.edu	37	1	111216030	111216030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111216030C>T	ENST00000369769.2	-	1	1625	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	468					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.G468S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTCAAGACACCGGCGATGGCA	0.527																																						ENST00000369769.2																			1	Substitution - Missense(1)	p.G468S(1)	ovary(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1402-1404)Ggt>Agt		potassium voltage-gated channel, shaker-related subfamily, member 3							101.0	82.0	89.0					1																	111216030		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216030C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1402G>A	1.37:g.111216030C>T	ENSP00000358784:p.Gly468Ser						p.G468S	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1625	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	468					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1402G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727560	0.89390	.	.	ENSG00000177272	ENST00000369769	D	0.98889	-5.21	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99432	0.9799	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98920	1.0783	10	0.87932	D	0	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	468	P22001	KCNA3_HUMAN	S	468	ENSP00000358784:G468S	ENSP00000358784:G468S	G	-	1	0	KCNA3	111017553	1.000000	0.71417	0.830000	0.32933	0.995000	0.86356	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	GGT		0.527	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		9	52	0	0	0	1	0	9	52				
MYO10	4651	broad.mit.edu	37	5	16694554	16694554	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:16694554G>A	ENST00000513610.1	-	27	4180	c.3726C>T	c.(3724-3726)cgC>cgT	p.R1242R	MYO10_ENST00000274203.9_Silent_p.R599R|MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000427430.2_Silent_p.R599R|MYO10_ENST00000515803.1_Silent_p.R581R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTTGGACTGGCGGAGGACAA	0.572																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3724-3726)cgC>cgT		myosin X							118.0	119.0	118.0					5																	16694554		1977	4160	6137	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694554G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3726C>T	5.37:g.16694554G>A						MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000427430.2_Silent_p.R599R|MYO10_ENST00000515803.1_Silent_p.R581R|MYO10_ENST00000274203.9_Silent_p.R599R	p.R1242R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4180	-			1242			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3726C>T	CCDS54834.1																																																																																				0.572	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	149	0	0	0	1	0	14	149				
IGLV1-50	28821	broad.mit.edu	37	22	22681967	22681967	+	RNA	SNP	C	C	T	rs140594791	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr22:22681967C>T	ENST00000390291.2	+	0	200									immunoglobulin lambda variable 1-50 (non-functional)																		AACATTGGGGCGGGTTATGTT	0.602													.|||	7	0.00139776	0.0	0.0	5008	,	,		17663	0.0069		0.0	False		,,,				2504	0.0					ENST00000390291.2																			0																				143.0	149.0	147.0					22																	22681967		1928	4132	6060			28821							g.chr22:22681967C>T	M94112		22q11.2	2012-02-08	2008-09-15		ENSG00000211645	ENSG00000211645		"""Immunoglobulins / IGL locus"""	5881	other	immunoglobulin gene			"""immunoglobulin lambda variable 1-50"""				Standard	NG_000002		Approved				OTTHUMG00000151051		22.37:g.22681967C>T														0	200	+									RNA	SNP	ENST00000390291.2	37																																																																																						0.602	IGLV1-50-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321111.3	NG_000002		19	183	0	0	0	1	0	19	183				
RMDN2	151393	broad.mit.edu	37	2	38202364	38202364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:38202364G>A	ENST00000406384.1	+	4	831	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RMDN2_ENST00000417700.2_Missense_Mutation_p.E68K|RMDN2_ENST00000407257.1_Missense_Mutation_p.E391K|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.E391K|RMDN2_ENST00000354545.2_Missense_Mutation_p.E213K	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	213						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GTTTAGAGATGAAATAGAGTT	0.318																																						ENST00000407257.1																			0											c.(1171-1173)Gaa>Aaa		regulator of microtubule dynamics 2							105.0	102.0	103.0					2																	38202364		2203	4300	6503	SO:0001583	missense	151393							g.chr2:38202364G>A	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.637G>A	2.37:g.38202364G>A	ENSP00000386004:p.Glu213Lys					RMDN2_ENST00000354545.2_Missense_Mutation_p.E213K|RMDN2_ENST00000234195.3_Missense_Mutation_p.E391K|RMDN2_ENST00000406384.1_Missense_Mutation_p.E213K|RMDN2_ENST00000417700.2_Missense_Mutation_p.E68K|RMDN2-AS1_ENST00000414365.2_RNA	p.E391K							4	1318	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1171G>A	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168181	0.38315	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.98	4.98	0.66077	.	0.331079	0.30611	N	0.009245	T	0.32645	0.0836	L	0.38175	1.15	0.30840	N	0.735738	B;B;B;B	0.30709	0.0;0.1;0.244;0.291	B;B;B;B	0.27715	0.001;0.061;0.061;0.082	T	0.31138	-0.9954	10	0.33141	T	0.24	.	13.6036	0.62035	0.0:0.0:1.0:0.0	.	391;68;213;68	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	K	213;213;391;68;391;68	ENSP00000346549:E213K;ENSP00000386004:E213K;ENSP00000385049:E391K;ENSP00000392977:E68K;ENSP00000234195:E391K;ENSP00000416367:E68K	ENSP00000234195:E391K	E	+	1	0	FAM82A1	38055868	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.833000	0.39161	2.576000	0.86940	0.563000	0.77884	GAA		0.318	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		5	44	0	0	0	1	0	5	44				
KCNG2	26251	broad.mit.edu	37	18	77624217	77624217	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:77624217G>A	ENST00000316249.3	+	1	550	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCGTGTCCGTGTCCTTCGT	0.766																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(550-552)Gtg>Atg		potassium voltage-gated channel, subfamily G, member 2							17.0	16.0	16.0					18																	77624217		1966	3932	5898	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624217G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.550G>A	18.37:g.77624217G>A	ENSP00000315654:p.Val184Met						p.V184M	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	550	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	184						Missense_Mutation	SNP	ENST00000316249.3	37	c.550G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670119	0.67814	.	.	ENSG00000178342	ENST00000316249	D	0.97598	-4.45	4.13	3.25	0.37280	.	0.347913	0.25720	N	0.028751	D	0.97739	0.9258	M	0.77712	2.385	0.40679	D	0.982287	D	0.89917	1.0	D	0.69654	0.965	D	0.97386	0.9986	10	0.72032	D	0.01	.	8.7541	0.34635	0.2046:0.0:0.7954:0.0	.	184	Q9UJ96	KCNG2_HUMAN	M	184	ENSP00000315654:V184M	ENSP00000315654:V184M	V	+	1	0	KCNG2	75725205	0.999000	0.42202	0.416000	0.26546	0.951000	0.60555	3.063000	0.49978	0.730000	0.32425	0.484000	0.47621	GTG		0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	16	0	0	0	1	0	3	16				
LAG3	3902	broad.mit.edu	37	12	6886563	6886563	+	Nonsense_Mutation	SNP	G	G	A	rs61731925		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:6886563G>A	ENST00000203629.2	+	6	1524	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	397	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGACCTTGGCTGGAGGCAC	0.572																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1189-1191)tgG>tgA		lymphocyte-activation gene 3							102.0	94.0	97.0					12																	6886563		2203	4300	6503	SO:0001587	stop_gained	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6886563G>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1191G>A	12.37:g.6886563G>A	ENSP00000203629:p.Trp397*						p.W397*	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			6	1524	+			397			Ig-like C2-type 3.		A8K7T9|Q7Z643	Nonsense_Mutation	SNP	ENST00000203629.2	37	c.1191G>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562152	0.96527	.	.	ENSG00000089692	ENST00000203629	.	.	.	4.76	3.86	0.44501	.	0.970104	0.08501	N	0.936444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.5711	10.2309	0.43253	0.0:0.0:0.8023:0.1976	rs61731925	.	.	.	X	397	.	ENSP00000203629:W397X	W	+	3	0	LAG3	6756824	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.703000	0.47110	1.215000	0.43411	0.561000	0.74099	TGG		0.572	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			9	76	0	0	0	1	0	9	76				
TMEM147	10430	broad.mit.edu	37	19	36037660	36037660	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:36037660G>C	ENST00000222284.5	+	4	439	c.294G>C	c.(292-294)aaG>aaC	p.K98N	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.K49N|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	98						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGAGTACAAGATCATGGTTG	0.582																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(145-147)aaG>aaC		transmembrane protein 147							91.0	80.0	83.0					19																	36037660		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037660G>C	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.294G>C	19.37:g.36037660G>C	ENSP00000222284:p.Lys98Asn					TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N|TMEM147_ENST00000222284.5_Missense_Mutation_p.K98N	p.K49N	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	475	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		98					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.147G>C	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.497781	0.85069	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.51574	0.7;0.7;0.7	5.0	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.77486	2.375	0.58432	D	0.999999	D	0.76494	0.999	D	0.67900	0.954	T	0.67503	-0.5654	10	0.46703	T	0.11	-20.3304	11.6812	0.51458	0.0865:0.0:0.9135:0.0	.	98	Q9BVK8	TM147_HUMAN	N	49;98;98	ENSP00000376040:K49N;ENSP00000222284:K98N;ENSP00000376041:K98N	ENSP00000222284:K98N	K	+	3	2	TMEM147	40729500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.602000	0.54066	1.471000	0.48121	0.651000	0.88453	AAG		0.582	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		4	67	0	0	0	1	0	4	67				
LBX2	85474	broad.mit.edu	37	2	74725408	74725408	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:74725408G>A	ENST00000377566.4	-	2	421	c.243C>T	c.(241-243)ttC>ttT	p.F81F	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_Missense_Mutation_p.S21L	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTTTGCGGCCGAAGGGACCAG	0.667																																						ENST00000341396.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(61-63)tCg>tTg		ladybird homeobox 2							10.0	11.0	10.0					2																	74725408		2149	4224	6373	SO:0001819	synonymous_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74725408G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.243C>T	2.37:g.74725408G>A						LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|LBX2_ENST00000377566.4_Silent_p.F81F	p.S21L			Q6XYB7	LBX2_HUMAN			2	186	-			0					Q7Z5Y8	Missense_Mutation	SNP	ENST00000377566.4	37	c.62C>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.539247	0.45176	.	.	ENSG00000179528	ENST00000341396	.	.	.	4.19	-8.39	0.00969	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55049	-0.8201	5	0.87932	D	0	.	9.8967	0.41322	0.3331:0.537:0.1298:0.0	.	.	.	.	L	21	.	ENSP00000450229:S21L	S	-	2	0	LBX2	74578916	0.000000	0.05858	0.001000	0.08648	0.486000	0.33341	-1.371000	0.02573	-2.149000	0.00797	0.561000	0.74099	TCG		0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812		3	26	0	0	0	1	0	3	26				
DNAH9	1770	broad.mit.edu	37	17	11872838	11872838	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:11872838G>C	ENST00000262442.4	+	69	13523	c.13455G>C	c.(13453-13455)caG>caC	p.Q4485H	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.Q797H|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4409H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4485					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTTCTCCAGATTTAGCATC	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13453-13455)caG>caC		dynein, axonemal, heavy chain 9							26.0	25.0	25.0					17																	11872838		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872838G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13455G>C	17.37:g.11872838G>C	ENSP00000262442:p.Gln4485His					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4409H|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q797H|RP11-1096G20.5_ENST00000580270.1_RNA	p.Q4485H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13523	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4485					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13455G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615087	0.46631	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09538	2.97;2.97;2.97	5.23	3.26	0.37387	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	H	0.97758	4.07	0.48762	D	0.999701	D	0.76494	0.999	D	0.72075	0.976	T	0.34279	-0.9835	10	0.72032	D	0.01	.	4.925	0.13889	0.2295:0.0:0.621:0.1494	.	4485	Q9NYC9	DYH9_HUMAN	H	4485;4409;2991;797	ENSP00000262442:Q4485H;ENSP00000414874:Q4409H;ENSP00000379323:Q797H	ENSP00000262442:Q4485H	Q	+	3	2	DNAH9	11813563	0.669000	0.27502	0.962000	0.40283	0.491000	0.33493	0.939000	0.28978	0.778000	0.33520	0.655000	0.94253	CAG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	16	0	0	0	1	0	5	16				
BRD4	23476	broad.mit.edu	37	19	15374334	15374334	+	Missense_Mutation	SNP	C	C	T	rs201883209		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:15374334C>T	ENST00000263377.2	-	7	1459	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BRD4_ENST00000360016.5_Missense_Mutation_p.R413H|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.R413H	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	413	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGAGCATCACGGTACTCACG	0.537			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1237-1239)cGt>cAt		bromodomain containing 4		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	140.0	105.0	117.0		1238,1238	4.6	1.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRD4	NM_014299.2,NM_058243.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	413/723,413/1363	15374334	1,13005	2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15374334C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1238G>A	19.37:g.15374334C>T	ENSP00000263377:p.Arg413His					BRD4_ENST00000371835.4_Missense_Mutation_p.R413H|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.R413H	p.R413H	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1459	-			413			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1238G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141795	0.77775	0.0	1.16E-4	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.31247	1.5;1.5;1.5	4.58	4.58	0.56647	Bromodomain (5);	0.000000	0.64402	D	0.000014	T	0.39306	0.1073	L	0.33710	1.025	0.43084	D	0.994745	D;P;D	0.71674	0.997;0.693;0.998	P;B;D	0.64687	0.83;0.061;0.928	T	0.18808	-1.0325	10	0.54805	T	0.06	-11.1247	10.264	0.43445	0.0:0.906:0.0:0.094	.	413;413;413	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	H	413	ENSP00000263377:R413H;ENSP00000360901:R413H;ENSP00000353112:R413H	ENSP00000263377:R413H	R	-	2	0	BRD4	15235334	0.941000	0.31946	0.967000	0.41034	0.966000	0.64601	2.068000	0.41471	2.271000	0.75665	0.407000	0.27541	CGT		0.537	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		5	50	0	0	0	1	0	5	50				
PCDH17	27253	broad.mit.edu	37	13	58299367	58299367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:58299367G>C	ENST00000377918.3	+	4	3445	c.3419G>C	c.(3418-3420)aGa>aCa	p.R1140T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1140					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAAGTTGTGAGAGAAATTGAT	0.488																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3418-3420)aGa>aCa		protocadherin 17							152.0	165.0	160.0					13																	58299367		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299367G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3419G>C	13.37:g.58299367G>C	ENSP00000367151:p.Arg1140Thr						p.R1140T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3445	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1140					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3419G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985487	0.53934	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.46157	1.445	0.49389	D	0.999786	D	0.57899	0.981	D	0.69824	0.966	T	0.56353	-0.7993	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1140	O14917	PCD17_HUMAN	T	1140	ENSP00000367151:R1140T	.	R	+	2	0	PCDH17	57197368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.362000	0.79507	2.885000	0.99019	0.655000	0.94253	AGA		0.488	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	215	0	0	0	1	0	11	215				
SPATA16	83893	broad.mit.edu	37	3	172642075	172642075	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:172642075C>G	ENST00000351008.3	-	8	1444	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	421					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCACTGTATCTTCTCTGGTC	0.328																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1261-1263)Gat>Cat		spermatogenesis associated 16							119.0	115.0	117.0					3																	172642075		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642075C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1261G>C	3.37:g.172642075C>G	ENSP00000341765:p.Asp421His						p.D421H	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1444	-	Ovarian(172;0.00319)|Breast(254;0.197)		421					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1261G>C	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329508	0.60743	.	.	ENSG00000144962	ENST00000351008	T	0.19938	2.11	5.81	5.81	0.92471	.	0.076260	0.56097	D	0.000034	T	0.35307	0.0927	L	0.27053	0.805	0.40269	D	0.978269	D	0.89917	1.0	D	0.70016	0.967	T	0.10543	-1.0625	10	0.87932	D	0	-14.253	17.862	0.88784	0.0:1.0:0.0:0.0	.	421	Q9BXB7	SPT16_HUMAN	H	421	ENSP00000341765:D421H	ENSP00000341765:D421H	D	-	1	0	SPATA16	174124769	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.214000	0.65236	2.752000	0.94435	0.557000	0.71058	GAT		0.328	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		4	69	0	0	0	1	0	4	69				
FRMPD4	9758	broad.mit.edu	37	X	12734553	12734553	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:12734553G>A	ENST00000380682.1	+	15	2481	c.1975G>A	c.(1975-1977)Gcc>Acc	p.A659T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	659					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGACTTCGCCTTGGATGA	0.483																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1975-1977)Gcc>Acc		FERM and PDZ domain containing 4							148.0	158.0	155.0					X																	12734553		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734553G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1975G>A	X.37:g.12734553G>A	ENSP00000370057:p.Ala659Thr						p.A659T	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2481	+			659					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1975G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	7.504	0.653271	0.14580	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.28454	1.61	5.86	5.0	0.66597	.	0.535513	0.20387	N	0.093333	T	0.25082	0.0609	L	0.57536	1.79	0.21527	N	0.999654	B;B	0.22346	0.038;0.068	B;B	0.13407	0.009;0.009	T	0.28106	-1.0054	10	0.13108	T	0.6	-5.6377	6.6729	0.23078	0.319:0.0:0.681:0.0	.	651;659	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	659;650;648	ENSP00000370057:A659T	ENSP00000304583:A648T	A	+	1	0	FRMPD4	12644474	0.962000	0.33011	0.936000	0.37596	0.575000	0.36095	1.936000	0.40183	1.247000	0.43917	-0.170000	0.13304	GCC		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		26	241	0	0	0	1	0	26	241				
AGPAT2	10555	broad.mit.edu	37	9	139571495	139571495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:139571495C>T	ENST00000371696.2	-	3	475	c.410G>A	c.(409-411)gGc>gAc	p.G137D	AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D|AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	137					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGAAGACGCCCCCGAGGTA	0.657																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(409-411)gGc>gAc		1-acylglycerol-3-phosphate O-acyltransferase 2							78.0	88.0	85.0					9																	139571495		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571495C>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.410G>A	9.37:g.139571495C>T	ENSP00000360761:p.Gly137Asp					AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D	p.G137D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	475	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	137					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.410G>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169515	0.57584	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.94650	-3.48;-3.48;-3.48	4.75	4.75	0.60458	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.84156	2.68	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.64595	0.925;0.927	D	0.97905	1.0305	10	0.87932	D	0	-31.9931	16.7351	0.85445	0.0:1.0:0.0:0.0	.	137;137	O15120-2;O15120	.;PLCB_HUMAN	D	137	ENSP00000360759:G137D;ENSP00000360761:G137D;ENSP00000438919:G137D	ENSP00000360759:G137D	G	-	2	0	AGPAT2	138691316	1.000000	0.71417	0.488000	0.27440	0.045000	0.14185	5.003000	0.63959	2.175000	0.68902	0.563000	0.77884	GGC		0.657	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		11	108	0	0	0	1	0	11	108				
STIM1	6786	broad.mit.edu	37	11	4112527	4112527	+	Silent	SNP	C	C	T	rs201573756		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:4112527C>T	ENST00000300737.4	+	12	2126	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	STIM1_ENST00000533977.1_Silent_p.S346S|STIM1_ENST00000527651.1_Nonsense_Mutation_p.R532*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	519					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGACCCATTCCGATTCGGAGT	0.552																																						ENST00000527651.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1594-1596)Cga>Tga		stromal interaction molecule 1		C		0,4402		0,0,2201	88.0	89.0	89.0		1557	5.4	1.0	11		89	1,8595		0,1,4297	no	coding-synonymous	STIM1	NM_003156.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		519/686	4112527	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4112527C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1557C>T	11.37:g.4112527C>T						STIM1_ENST00000533977.1_Silent_p.S346S|STIM1_ENST00000300737.4_Silent_p.S519S	p.R532*	NM_001277962.1	NP_001264891.1	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	13	1683	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	532					E9PQJ4|Q8N382	Nonsense_Mutation	SNP	ENST00000300737.4	37	c.1594C>T	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.529024|5.529024	0.96446|0.96446	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167323|ENSG00000167323	ENST00000526596|ENST00000527651	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|.	0.37945|.	0.1022|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15694|.	-1.0428|.	4|.	.|0.06757	.|T	.|0.87	-32.6465|-32.6465	11.9859|11.9859	0.53147|0.53147	0.173:0.827:0.0:0.0|0.173:0.827:0.0:0.0	.|.	.|.	.|.	.|.	L|X	281|532	.|.	.|ENSP00000436208:R532X	P|R	+|+	2|1	0|2	STIM1|STIM1	4069103|4069103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.296000|1.296000	0.33389|0.33389	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.552	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		6	107	0	0	0	1	0	6	107				
VCP	7415	broad.mit.edu	37	9	35062342	35062342	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:35062342C>G	ENST00000358901.6	-	8	1712	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	273					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCATGATCTCAGGACCTGAA	0.443																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(817-819)Gag>Cag		valosin containing protein							85.0	81.0	82.0					9																	35062342		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35062342C>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.817G>C	9.37:g.35062342C>G	ENSP00000351777:p.Glu273Gln						p.E273Q	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1712	-			273					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.817G>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737219	0.89482	.	.	ENSG00000165280	ENST00000358901	D	0.95853	-3.83	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97131	0.9818	10	0.87932	D	0	-28.153	20.3539	0.98825	0.0:1.0:0.0:0.0	.	273	P55072	TERA_HUMAN	Q	273	ENSP00000351777:E273Q	ENSP00000351777:E273Q	E	-	1	0	VCP	35052342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAG		0.443	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		5	66	0	0	0	1	0	5	66				
KCNA2	3737	broad.mit.edu	37	1	111146896	111146896	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:111146896A>G	ENST00000485317.1	-	3	1182	c.509T>C	c.(508-510)gTc>gCc	p.V170A	KCNA2_ENST00000440270.1_Missense_Mutation_p.V170A|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Missense_Mutation_p.V170A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V170A			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	170					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AATCACCATGACAGACACAAT	0.483																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(508-510)gTc>gCc		potassium voltage-gated channel, shaker-related subfamily, member 2							93.0	95.0	94.0					1																	111146896		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146896A>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.509T>C	1.37:g.111146896A>G	ENSP00000433109:p.Val170Ala					KCNA2_ENST00000369770.3_Missense_Mutation_p.V170A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V170A|KCNA2_ENST00000440270.1_Missense_Mutation_p.V170A|KCNA2_ENST00000525120.1_Intron	p.V170A			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1182	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	170					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.509T>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509840	0.64522	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.91635	0.881;0.999	D	0.89947	0.4077	10	0.87932	D	0	.	16.158	0.81680	1.0:0.0:0.0:0.0	.	170;170	Q86XG6;P16389	.;KCNA2_HUMAN	A	170	ENSP00000358785:V170A;ENSP00000433109:V170A;ENSP00000415257:V170A;ENSP00000314520:V170A	ENSP00000314520:V170A	V	-	2	0	KCNA2	110948419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.265000	0.95647	2.220000	0.72140	0.496000	0.49642	GTC		0.483	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		15	80	0	0	0	1	0	15	80				
PKD1L1	168507	broad.mit.edu	37	7	47906074	47906074	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:47906074C>G	ENST00000289672.2	-	25	4085	c.4035G>C	c.(4033-4035)tgG>tgC	p.W1345C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1345	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTATTCGTGACCATTGGTTGC	0.433																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4033-4035)tgG>tgC		polycystic kidney disease 1 like 1							184.0	158.0	167.0					7																	47906074		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47906074C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4035G>C	7.37:g.47906074C>G	ENSP00000289672:p.Trp1345Cys						p.W1345C	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			25	4085	-			1345			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4035G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484309	0.26598	.	.	ENSG00000158683	ENST00000289672	T	0.20069	2.1	4.94	4.94	0.65067	Egg jelly receptor, REJ-like (1);	0.334627	0.25060	N	0.033448	T	0.37183	0.0994	L	0.57536	1.79	0.47698	D	0.99949	D	0.76494	0.999	D	0.67103	0.949	T	0.04991	-1.0913	10	0.41790	T	0.15	-12.4328	9.316	0.37934	0.0:0.9008:0.0:0.0992	.	1345	Q8TDX9	PK1L1_HUMAN	C	1345	ENSP00000289672:W1345C	ENSP00000289672:W1345C	W	-	3	0	PKD1L1	47872599	1.000000	0.71417	0.816000	0.32577	0.130000	0.20726	1.318000	0.33643	2.300000	0.77407	0.655000	0.94253	TGG		0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		11	121	0	0	0	1	0	11	121				
AMT	275	broad.mit.edu	37	3	49455119	49455119	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:49455119G>A	ENST00000273588.3	-	9	1368	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Silent_p.L300L|AMT_ENST00000458307.2_Silent_p.L312L|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000546031.1_Silent_p.L259L	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	356					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	TTCTTCTTCAGAGAGGGGGAG	0.592																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1066-1068)Ctg>Ttg		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						69.0	72.0	71.0					3																	49455119		2203	4300	6503	SO:0001819	synonymous_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455119G>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1066C>T	3.37:g.49455119G>A						AMT_ENST00000538581.1_Silent_p.L300L|AMT_ENST00000546031.1_Silent_p.L259L|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000458307.2_Silent_p.L312L	p.L356L	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1368	-			356					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	c.1066C>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	G	1.070	-0.670083	0.03403	.	.	ENSG00000145020	ENST00000427987	T	0.77620	-1.11	4.75	3.88	0.44766	.	.	.	.	.	T	0.80618	0.4657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80329	-0.1428	6	0.87932	D	0	-11.8844	7.3682	0.26785	0.1983:0.0:0.8017:0.0	.	.	.	.	F	353	ENSP00000403821:S353F	ENSP00000403821:S353F	S	-	2	0	AMT	49430123	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	3.325000	0.52030	1.012000	0.39366	0.563000	0.77884	TCT		0.592	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		15	115	0	0	0	1	0	15	115				
ADI1	55256	broad.mit.edu	37	2	3504681	3504681	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:3504681C>T	ENST00000327435.6	-	3	572	c.324G>A	c.(322-324)agG>agA	p.R108R	ADI1_ENST00000382093.5_Silent_p.R102R	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCTCCTTGTCCCTCACATCGA	0.542																																						ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(304-306)agG>agA		acireductone dioxygenase 1							227.0	169.0	189.0					2																	3504681		2203	4300	6503	SO:0001819	synonymous_variant	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504681C>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.324G>A	2.37:g.3504681C>T						ADI1_ENST00000327435.6_Silent_p.R108R	p.R102R			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	3143	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		108						Silent	SNP	ENST00000327435.6	37	c.306G>A	CCDS1653.1																																																																																				0.542	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		4	37	0	0	0	1	0	4	37				
ZNF543	125919	broad.mit.edu	37	19	57839434	57839434	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:57839434G>A	ENST00000321545.4	+	4	949	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	202					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)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTATAAATGTGAGGAATGCGG	0.413																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(604-606)Gag>Aag		zinc finger protein 543							97.0	98.0	97.0					19																	57839434		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839434G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.604G>A	19.37:g.57839434G>A	ENSP00000322545:p.Glu202Lys						p.E202K	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	949	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	202					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.604G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623679	0.14193	.	.	ENSG00000178229	ENST00000321545	T	0.28069	1.63	2.33	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34129	-0.9841	9	0.02654	T	1	.	2.7509	0.05280	0.2086:0.1458:0.5004:0.1451	.	202	Q08ER8	ZN543_HUMAN	K	202	ENSP00000322545:E202K	ENSP00000322545:E202K	E	+	1	0	ZNF543	62531246	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	-2.933000	0.00687	-1.205000	0.02645	-0.291000	0.09656	GAG		0.413	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		7	128	0	0	0	1	0	7	128				
CPEB4	80315	broad.mit.edu	37	5	173380196	173380196	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:173380196C>T	ENST00000265085.5	+	9	3337	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V|CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	628	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGAGAGTTGCGTTCTCTAAT	0.463																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1882-1884)gCg>gTg		cytoplasmic polyadenylation element binding protein 4							142.0	139.0	140.0					5																	173380196		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173380196C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1883C>T	5.37:g.173380196C>T	ENSP00000265085:p.Ala628Val					CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V|CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V	p.A628V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		9	3337	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	628			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1883C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560851	0.86335	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.75	5.75	0.90469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	N	0.19112	0.55	0.80722	D	1	D;P;P;P;P	0.56968	0.978;0.724;0.873;0.794;0.794	P;P;P;B;B	0.51833	0.681;0.509;0.459;0.153;0.362	T	0.01356	-1.1376	10	0.62326	D	0.03	-12.2936	20.3046	0.98621	0.0:1.0:0.0:0.0	.	603;611;603;238;628	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	V	628;603;611;603;238;221	ENSP00000265085:A628V;ENSP00000429092:A603V;ENSP00000334533:A611V;ENSP00000429048:A603V;ENSP00000430345:A238V;ENSP00000427990:A221V	ENSP00000265085:A628V	A	+	2	0	CPEB4	173312802	1.000000	0.71417	0.979000	0.43373	0.927000	0.56198	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GCG		0.463	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		8	131	0	0	0	1	0	8	131				
SERPINH1	871	broad.mit.edu	37	11	75282867	75282867	+	Silent	SNP	G	G	A	rs147936395		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75282867G>A	ENST00000524558.1	+	5	2431	c.996G>A	c.(994-996)aaG>aaA	p.K332K	SERPINH1_ENST00000533603.1_Silent_p.K332K|SERPINH1_ENST00000358171.3_Silent_p.K332K|SERPINH1_ENST00000525876.1_Silent_p.K115K			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	332					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCATTGACAAGAACAAGGCCG	0.602																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(994-996)aaG>aaA		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							60.0	47.0	52.0					11																	75282867		2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75282867G>A	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.996G>A	11.37:g.75282867G>A						SERPINH1_ENST00000525876.1_Silent_p.K115K|SERPINH1_ENST00000533603.1_Silent_p.K332K|SERPINH1_ENST00000358171.3_Silent_p.K332K	p.K332K			P50454	SERPH_HUMAN			5	2431	+	Ovarian(111;0.11)		332					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.996G>A	CCDS8239.1																																																																																				0.602	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		5	37	0	0	0	1	0	5	37				
KMT2A	4297	broad.mit.edu	37	11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:118352585C>T	ENST00000389506.5	+	7	3790	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1264					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCCTCCTCCACGAAAGCCCGT	0.542																																						ENST00000534358.1																			0											c.(3790-3792)Cga>Tga		lysine (K)-specific methyltransferase 2A							97.0	92.0	93.0					11																	118352585		2200	4296	6496	SO:0001587	stop_gained	4297							g.chr11:118352585C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3790C>T	11.37:g.118352585C>T	ENSP00000374157:p.Arg1264*					KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1264*	p.R1264*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					7	3813	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.3790C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088119	0.99061	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.67	5.67	0.87782	.	0.172909	0.40554	N	0.001078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6086	0.68498	0.1457:0.8543:0.0:0.0	.	.	.	.	X	1264;1297;1264;1264;174;14	.	ENSP00000346516:R1264X	R	+	1	2	MLL	117857795	0.966000	0.33281	0.140000	0.22221	0.502000	0.33828	2.779000	0.47734	2.680000	0.91292	0.563000	0.77884	CGA		0.542	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	73	0	0	0	1	0	6	73				
ANKFY1	51479	broad.mit.edu	37	17	4088250	4088250	+	Missense_Mutation	SNP	G	G	A	rs201139906		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:4088250G>A	ENST00000341657.4	-	12	1597	c.1562C>T	c.(1561-1563)aCg>aTg	p.T521M	ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T563M|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T521M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	521					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGCTTCCTCCGTCTGCAGGTT	0.622																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1561-1563)aCg>aTg		ankyrin repeat and FYVE domain containing 1		G	MET/THR	1,4309		0,1,2154	60.0	68.0	65.0		1562	5.8	1.0	17		65	1,8539		0,1,4269	yes	missense	ANKFY1	NM_016376.3	81	0,2,6423	AA,AG,GG		0.0117,0.0232,0.0156	probably-damaging	521/1171	4088250	2,12848	2155	4270	6425	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4088250G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1562C>T	17.37:g.4088250G>A	ENSP00000343362:p.Thr521Met					CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T521M|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T563M	p.T521M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			12	1597	-			521					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1562C>T		.	.	.	.	.	.	.	.	.	.	G	29.3	4.991175	0.93106	2.32E-4	1.17E-4	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.54866	0.55	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.993;0.995;0.996	T	0.80480	-0.1364	10	0.66056	D	0.02	-17.4366	18.9587	0.92670	0.0:0.0:1.0:0.0	.	462;521;521;563	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	M	521;462	ENSP00000343362:T521M	ENSP00000343362:T521M	T	-	2	0	ANKFY1	4034999	1.000000	0.71417	0.963000	0.40424	0.755000	0.42902	9.835000	0.99442	2.728000	0.93425	0.655000	0.94253	ACG		0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		6	59	0	0	0	1	0	6	59				
PSD2	84249	broad.mit.edu	37	5	139193008	139193008	+	Silent	SNP	C	C	T	rs573050249		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:139193008C>T	ENST00000274710.3	+	3	691	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	162					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTAGACGGGCTGAGCC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16429	0.001		0.0	False		,,,				2504	0.0					ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(484-486)gaC>gaT		pleckstrin and Sec7 domain containing 2							41.0	43.0	42.0					5																	139193008		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193008C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.486C>T	5.37:g.139193008C>T							p.D162D	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	691	+			162					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.486C>T	CCDS4216.1																																																																																				0.657	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		5	69	0	0	0	1	0	5	69				
FCGRT	2217	broad.mit.edu	37	19	50017242	50017242	+	Silent	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:50017242G>C	ENST00000221466.5	+	3	663	c.177G>C	c.(175-177)ctG>ctC	p.L59L	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Silent_p.L59L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	59	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AGCAGTACCTGAGCTACAATA	0.642																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(175-177)ctG>ctC		Fc fragment of IgG, receptor, transporter, alpha							68.0	74.0	72.0					19																	50017242		2203	4300	6503	SO:0001819	synonymous_variant	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017242G>C	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.177G>C	19.37:g.50017242G>C						FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.L59L	p.L59L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	3	663	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	59			Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	c.177G>C	CCDS12770.1																																																																																				0.642	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			9	82	0	0	0	1	0	9	82				
KRT75	9119	broad.mit.edu	37	12	52824378	52824378	+	Missense_Mutation	SNP	C	C	T	rs143629874		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:52824378C>T	ENST00000252245.5	-	5	1202	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	328	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCAATGTCCTCGTATTGTGCT	0.572																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(982-984)Gag>Aag		keratin 75		C	LYS/GLU	0,4406		0,0,2203	206.0	176.0	186.0		982	4.8	1.0	12	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT75	NM_004693.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/552	52824378	1,13005	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52824378C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.982G>A	12.37:g.52824378C>T	ENSP00000252245:p.Glu328Lys						p.E328K	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1202	-			328			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.982G>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960892	0.92791	0.0	1.16E-4	ENSG00000170454	ENST00000252245	D	0.93076	-3.16	5.73	4.84	0.62591	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000043	D	0.97660	0.9233	H	0.95679	3.705	0.48830	D	0.99971	D	0.89917	1.0	D	0.83275	0.996	D	0.98713	1.0705	10	0.87932	D	0	.	14.9338	0.70938	0.0:0.9312:0.0:0.0688	.	328	O95678	K2C75_HUMAN	K	328	ENSP00000252245:E328K	ENSP00000252245:E328K	E	-	1	0	KRT75	51110645	1.000000	0.71417	0.989000	0.46669	0.874000	0.50279	4.854000	0.62918	1.425000	0.47237	0.655000	0.94253	GAG		0.572	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		7	175	0	0	0	1	0	7	175				
AHDC1	27245	broad.mit.edu	37	1	27874901	27874901	+	Silent	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:27874901G>A	ENST00000247087.5	-	5	4322	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	AHDC1_ENST00000374011.2_Silent_p.F1242F			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1242							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGCCTCGAACAGGTCCA	0.652																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3724-3726)ttC>ttT		AT hook, DNA binding motif, containing 1							43.0	53.0	50.0					1																	27874901		2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874901G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3726C>T	1.37:g.27874901G>A						AHDC1_ENST00000247087.5_Silent_p.F1242F|AHDC1_ENST00000482400.2_Intron	p.F1242F	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4694	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1242					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3726C>T	CCDS30652.1																																																																																				0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			4	54	0	0	0	1	0	4	54				
CHAC2	494143	broad.mit.edu	37	2	53995077	53995077	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:53995077G>C	ENST00000295304.4	+	1	149	c.54G>C	c.(52-54)caG>caC	p.Q18H	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	18										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCCCTATCAGGACAAGCTGG	0.627											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295304.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(52-54)caG>caC		ChaC, cation transport regulator homolog 2 (E. coli)							95.0	92.0	93.0					2																	53995077		2203	4300	6503	SO:0001583	missense	494143							g.chr2:53995077G>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.54G>C	2.37:g.53995077G>C	ENSP00000295304:p.Gln18His		OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron	p.Q18H	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		1	149	+			18					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.54G>C	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660690	0.88154	.	.	ENSG00000143942	ENST00000295304	T	0.37235	1.21	5.38	5.38	0.77491	Butirosin biosynthesis, BtrG-like (1);	0.336615	0.31660	N	0.007275	T	0.36580	0.0972	L	0.42245	1.32	0.49915	D	0.999836	B	0.17852	0.024	B	0.22386	0.039	T	0.09684	-1.0663	10	0.44086	T	0.13	-9.1754	19.1236	0.93374	0.0:0.0:1.0:0.0	.	18	Q8WUX2	CHAC2_HUMAN	H	18	ENSP00000295304:Q18H	ENSP00000295304:Q18H	Q	+	3	2	CHAC2	53848581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.333000	0.72939	2.523000	0.85059	0.591000	0.81541	CAG		0.627	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		3	21	0	0	0	1	0	3	21				
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATGCTGCAAGATTTGGGGAA	0.363																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1099-1101)aGa>aAa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						175.0	164.0	167.0					2																	182350666		1858	4099	5957	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182350666G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1100G>A	2.37:g.182350666G>A	ENSP00000380227:p.Arg367Lys						p.R367K	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1530	+			367					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1100G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947444	0.73672	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.24723	1.84;1.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.95;0.996	T	0.63093	-0.6714	10	0.56958	D	0.05	.	20.1945	0.98239	0.0:0.0:1.0:0.0	.	367;367	E7EP60;P13612	.;ITA4_HUMAN	K	367	ENSP00000380227:R367K;ENSP00000233573:R367K	ENSP00000233573:R367K	R	+	2	0	ITGA4	182058911	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.005000	0.76323	2.768000	0.95171	0.585000	0.79938	AGA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			18	107	0	0	0	1	0	18	107				
PCDHA12	56137	broad.mit.edu	37	5	140256838	140256838	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:140256838T>C	ENST00000398631.2	+	1	1781	c.1781T>C	c.(1780-1782)gTg>gCg	p.V594A	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCGAAAGTGCGCGCGGTG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1780-1782)gTg>gCg									346.0	312.0	324.0					5																	140256838		2203	4299	6502	SO:0001583	missense	56137							g.chr5:140256838T>C	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1781T>C	5.37:g.140256838T>C	ENSP00000381628:p.Val594Ala					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.V594A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1781	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1781T>C	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010157	0.75046	.	.	ENSG00000251664	ENST00000398631	T	0.58210	0.35	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75796	0.3898	M	0.92026	3.265	0.27891	N	0.939317	D;D	0.71674	0.996;0.998	P;P	0.62435	0.897;0.902	T	0.73097	-0.4090	9	0.87932	D	0	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	594;594	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	A	594	ENSP00000381628:V594A	ENSP00000381628:V594A	V	+	2	0	PCDHA12	140237022	0.993000	0.37304	1.000000	0.80357	0.787000	0.44495	5.659000	0.68010	1.752000	0.51891	0.459000	0.35465	GTG		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		10	93	0	0	0	1	0	10	93				
TTC26	79989	broad.mit.edu	37	7	138874171	138874171	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:138874171C>A	ENST00000464848.1	+	18	1738	c.1658C>A	c.(1657-1659)tCc>tAc	p.S553Y	TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y|TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y|TTC26_ENST00000430935.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	553					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACAGAGTGTCCATCTAAAAT	0.428																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(1657-1659)tCc>tAc		tetratricopeptide repeat domain 26							112.0	106.0	108.0					7																	138874171		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138874171C>A	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1658C>A	7.37:g.138874171C>A	ENSP00000419279:p.Ser553Tyr					TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y|TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y|TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000430935.1_3'UTR	p.S553Y			A0AVF1	TTC26_HUMAN			18	1738	+			553					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.1658C>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642788	0.47153	.	.	ENSG00000105948	ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.43	5.43	0.79202	.	0.189736	0.47455	D	0.000231	T	0.28764	0.0713	N	0.08118	0	0.80722	D	1	P;B;B	0.40534	0.72;0.115;0.187	B;B;B	0.39738	0.308;0.081;0.037	T	0.17410	-1.0370	10	0.45353	T	0.12	.	18.0152	0.89238	0.0:1.0:0.0:0.0	.	422;522;553	B7Z2T3;F8W724;A0AVF1	.;.;TTC26_HUMAN	Y	422;446;553;522	ENSP00000418788:S422Y;ENSP00000419178:S446Y;ENSP00000419279:S553Y;ENSP00000339135:S522Y	ENSP00000339135:S522Y	S	+	2	0	TTC26	138524711	0.999000	0.42202	0.994000	0.49952	0.711000	0.40976	5.561000	0.67339	2.527000	0.85204	0.563000	0.77884	TCC		0.428	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		11	106	1	0	4.68919e-08	1	5.12617e-08	11	106				
GAA	2548	broad.mit.edu	37	17	78081373	78081373	+	Missense_Mutation	SNP	C	C	T	rs121907944		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:78081373C>T	ENST00000302262.3	+	4	929	c.710C>T	c.(709-711)gCg>gTg	p.A237V	GAA_ENST00000390015.3_Missense_Mutation_p.A237V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	237			A -> V (in GSD2). {ECO:0000269|PubMed:15668445}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACGACGGTGGCGCCCCTGTTC	0.662																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	GRCh37	CM050054	GAA	M	rs121907944	c.(709-711)gCg>gTg		glucosidase, alpha; acid	Acarbose(DB00284)						98.0	100.0	99.0					17																	78081373		2203	4300	6503	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081373C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.710C>T	17.37:g.78081373C>T	ENSP00000305692:p.Ala237Val					GAA_ENST00000390015.3_Missense_Mutation_p.A237V	p.A237V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	929	+	all_neural(118;0.117)		237		A -> V (in GSD2).			Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.710C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758787	0.69763	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.81739	-1.53;-1.53	5.18	5.18	0.71444	Glycoside hydrolase-type carbohydrate-binding (1);	0.053402	0.85682	D	0.000000	D	0.85128	0.5626	M	0.78049	2.395	0.40691	A	0.982399	D	0.61697	0.99	P	0.50440	0.641	D	0.87543	0.2460	9	0.42905	T	0.14	-42.5824	16.4761	0.84132	0.0:1.0:0.0:0.0	.	237	P10253	LYAG_HUMAN	V	237	ENSP00000305692:A237V;ENSP00000374665:A237V	ENSP00000305692:A237V	A	+	2	0	GAA	75695968	1.000000	0.71417	0.985000	0.45067	0.165000	0.22458	5.893000	0.69798	2.424000	0.82194	0.655000	0.94253	GCG		0.662	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			7	125	0	0	0	1	0	7	125				
C9orf117	286207	broad.mit.edu	37	9	130474913	130474913	+	Intron	SNP	G	G	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr9:130474913G>A	ENST00000373295.2	+	7	1177				C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Missense_Mutation_p.E4K	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117											breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AATGGGCACTGAGGTTGGAAT	0.567																																						ENST00000373293.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(10-12)Gag>Aag		chromosome 9 open reading frame 117																																				SO:0001627	intron_variant	286207							g.chr9:130474913G>A	AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1138-75G>A	9.37:g.130474913G>A						C9orf117_ENST00000373295.2_Intron|C9orf117_ENST00000464092.1_3'UTR	p.E4K			Q5JU67	CI117_HUMAN			1	745	+			0					A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	c.10G>A	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667045	0.67814	.	.	ENSG00000160401	ENST00000373293	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	T	0.53270	0.1786	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49351	-0.8949	5	0.59425	D	0.04	.	13.4918	0.61399	0.0:0.0:1.0:0.0	.	.	.	.	K	4	.	ENSP00000362391:E4K	E	+	1	0	C9orf117	129514734	0.003000	0.15002	0.024000	0.17045	0.009000	0.06853	1.000000	0.29770	2.448000	0.82819	0.462000	0.41574	GAG		0.567	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502		5	17	0	0	0	1	0	5	17				
HEPH	9843	broad.mit.edu	37	X	65413477	65413477	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:65413477C>A	ENST00000343002.2	+	7	2030	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	HEPH_ENST00000336279.5_Missense_Mutation_p.L189M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000519389.1_Missense_Mutation_p.L510M|HEPH_ENST00000419594.1_Missense_Mutation_p.L459M|HEPH_ENST00000374727.3_Missense_Mutation_p.L459M			Q9BQS7	HEPH_HUMAN	hephaestin	456	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTTGGAATCCTGGGTGAGGA	0.418																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1528-1530)Ctg>Atg		hephaestin							40.0	36.0	37.0					X																	65413477		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413477C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1366C>A	X.37:g.65413477C>A	ENSP00000343939:p.Leu456Met					HEPH_ENST00000374727.3_Missense_Mutation_p.L459M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000343002.2_Missense_Mutation_p.L456M|HEPH_ENST00000419594.1_Missense_Mutation_p.L459M|HEPH_ENST00000336279.5_Missense_Mutation_p.L189M	p.L510M			Q9BQS7	HEPH_HUMAN			8	1707	+			456			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1528C>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.224469	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99545	-6.13;-6.13;-6.13;-6.13;-5.55;-6.13;-5.55	5.39	2.37	0.29283	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.190972	0.37809	N	0.001937	D	0.99086	0.9686	M	0.64676	1.99	0.31555	N	0.65825	D;P;P	0.55385	0.971;0.612;0.925	P;B;P	0.58577	0.841;0.173;0.612	D	0.98190	1.0462	10	0.52906	T	0.07	.	6.8334	0.23923	0.1568:0.6633:0.0:0.1799	.	510;459;456	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	M	510;459;189;459;459;456;456	ENSP00000430620:L510M;ENSP00000363859:L459M;ENSP00000337418:L189M;ENSP00000411687:L459M;ENSP00000413211:L459M;ENSP00000343939:L456M;ENSP00000398078:L456M	ENSP00000337418:L189M	L	+	1	2	HEPH	65330202	0.473000	0.25878	0.990000	0.47175	0.978000	0.69477	0.675000	0.25232	1.053000	0.40415	0.594000	0.82650	CTG		0.418	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	37	1	0	1	1	1	8	37				
PON3	5446	broad.mit.edu	37	7	94996775	94996775	+	Silent	SNP	C	C	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:94996775C>T	ENST00000265627.5	-	5	403	c.393G>A	c.(391-393)gtG>gtA	p.V131V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V|PON3_ENST00000451904.1_Silent_p.V131V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	131					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GGGGATGATTCACAACATAAA	0.328																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(391-393)gtG>gtA		paraoxonase 3							119.0	126.0	124.0					7																	94996775		2203	4300	6503	SO:0001819	synonymous_variant	5446							g.chr7:94996775C>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.393G>A	7.37:g.94996775C>T						PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V	p.V131V	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		5	403	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	c.393G>A	CCDS5639.1																																																																																				0.328	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		6	101	0	0	0	1	0	6	101				
PHF13	148479	broad.mit.edu	37	1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:6680128delG	ENST00000377648.4	+	3	789	c.407delG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGGGTACAGGGGGGGCTTG	0.602																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(406-408)agfs		PHD finger protein 13							37.0	41.0	40.0					1																	6680128		2203	4300	6503	SO:0001589	frameshift_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680128delG	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.407delG	1.37:g.6680128delG	ENSP00000366876:p.Arg136fs					PHF13_ENST00000495385.1_Intron	p.R136fs	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	789	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	136					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Frame_Shift_Del	DEL	ENST00000377648.4	37	c.407delG	CCDS85.1																																																																																				0.602	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		13	51						13	51	---	---	---	---
C1orf141	400757	broad.mit.edu	37	1	67592911	67592911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:67592911delT	ENST00000371007.2	-	3	122	c.13delA	c.(13-15)atcfs	p.I5fs	C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	5										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCTCTAGGATTTTTTCTGCC	0.313																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(13-15)tcfs		chromosome 1 open reading frame 141							136.0	134.0	135.0					1																	67592911		2203	4299	6502	SO:0001589	frameshift_variant	400757							g.chr1:67592911delT	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.13delA	1.37:g.67592911delT	ENSP00000360046:p.Ile5fs					C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs	p.I5fs	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			3	122	-			5					Q0P5P5|Q5JVX5	Frame_Shift_Del	DEL	ENST00000371007.2	37	c.13delA	CCDS30745.1																																																																																				0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		8	125						8	125	---	---	---	---
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:68171151delT	ENST00000370982.3	-	4	401	c.202delA	c.(202-204)actfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			lung(3)	3						ATGATGCAAGTTTTTTTATCC	0.438																																						ENST00000370982.3																			0				lung(3)	3						c.(202-204)ctfs		guanine nucleotide binding protein (G protein), gamma 12							171.0	162.0	165.0					1																	68171151		2203	4300	6503	SO:0001589	frameshift_variant	55970				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:68171151delT	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.202delA	1.37:g.68171151delT	ENSP00000360021:p.Thr68fs						p.T68fs	NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN			4	401	-			68					Q69YP5|Q9BRV5	Frame_Shift_Del	DEL	ENST00000370982.3	37	c.202delA	CCDS30749.1																																																																																				0.438	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			16	96						16	96	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114641761	114641761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:114641761delT	ENST00000610222.1	-	5	1465	c.1319delA	c.(1318-1320)aacfs	p.N440fs	SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000607941.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000609117.1_Frame_Shift_Del_p.N355fs|SYT6_ENST00000393296.1_Frame_Shift_Del_p.N440fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	440	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATCCATGTTTTCCGGGGG	0.488																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1318-1320)acfs		synaptotagmin VI							266.0	209.0	228.0					1																	114641761		2203	4300	6503	SO:0001589	frameshift_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114641761delT		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1319delA	1.37:g.114641761delT	ENSP00000476396:p.Asn440fs					SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs	p.N440fs			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1396	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	440			C2 2.		B1AMB8|B3KPK1	Frame_Shift_Del	DEL	ENST00000610222.1	37	c.1319delA																																																																																					0.488	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		13	172						13	172	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183543721	183543723	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:183543721_183543723delCTT	ENST00000367535.3	-	4	651_653	c.400_402delAAG	c.(400-402)aagdel	p.K134del	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	134					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TCCATTCCTCCTTCTTGGCATAC	0.448																																						ENST00000367535.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	GRCh37	CI951959	NCF2	I		c.(400-402)del		neutrophil cytosolic factor 2																																				SO:0001651	inframe_deletion	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183543721_183543723delCTT	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.400_402delAAG	1.37:g.183543724_183543726delCTT	ENSP00000356505:p.Lys134del					NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	p.K134del	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN			4	651_653	-			134					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	In_Frame_Del	DEL	ENST00000367535.3	37	c.400_402delAAG	CCDS1356.1																																																																																				0.448	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		13	139						13	139	---	---	---	---
DYRK3	8444	broad.mit.edu	37	1	206821441	206821441	+	Frame_Shift_Del	DEL	A	A	-	rs199522696	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:206821441delA	ENST00000367109.2	+	3	1066	c.898delA	c.(898-900)aaafs	p.K301fs	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000367106.1_Frame_Shift_Del_p.K281fs	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAGCTGATTAAAAAAAATAA	0.403																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(838-840)aafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							86.0	92.0	90.0					1																	206821441		2202	4300	6502	SO:0001589	frameshift_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821441delA	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.898delA	1.37:g.206821441delA	ENSP00000356076:p.Lys301fs					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs	p.K281fs			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1311	+	Breast(84;0.183)		301			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Frame_Shift_Del	DEL	ENST00000367109.2	37	c.838delA	CCDS30999.1																																																																																				0.403	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		8	157						8	157	---	---	---	---
ZNF124	7678	broad.mit.edu	37	1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:247319909delT	ENST00000543802.2	-	4	1104	c.1015delA	c.(1015-1017)actfs	p.T339fs	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000340684.6_Frame_Shift_Del_p.T277fs|ZNF124_ENST00000491848.1_5'Flank			Q15973	ZN124_HUMAN	zinc finger protein 124	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCAGTATGAGTTTTTTTATGC	0.368																																						ENST00000340684.6																			1	Substitution - Missense(1)	p.T277P(1)	biliary_tract(1)	biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(829-831)ctfs		zinc finger protein 124							78.0	80.0	80.0					1																	247319909		2203	4300	6503	SO:0001589	frameshift_variant	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247319909delT	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.1015delA	1.37:g.247319909delT	ENSP00000440365:p.Thr339fs					ZNF124_ENST00000543802.2_Frame_Shift_Del_p.T339fs|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	p.T277fs	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		4	967	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		339					B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Frame_Shift_Del	DEL	ENST00000543802.2	37	c.829delA																																																																																					0.368	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		9	61						9	61	---	---	---	---
OR2L5	81466	broad.mit.edu	37	1	248185949	248185949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr1:248185949delA	ENST00000355281.1	+	1	700	c.700delA	c.(700-702)aaafs	p.K235fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AGAAGGGAGGAAAAAGGCCTA	0.498																																						ENST00000355281.1																			0											c.(700-702)aafs		olfactory receptor, family 2, subfamily L, member 5																																				SO:0001589	frameshift_variant	81466							g.chr1:248185949delA		CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.700delA	1.37:g.248185949delA	ENSP00000347428:p.Lys235fs					OR2L13_ENST00000366478.2_Intron	p.K235fs	NM_001258284.1	NP_001245213.1					1	700	+								Q6IF04	Frame_Shift_Del	DEL	ENST00000355281.1	37	c.700delA	CCDS58068.1																																																																																				0.498	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096851.1			7	128						7	128	---	---	---	---
ANKRD20A8P	729171	broad.mit.edu	37	2	95481129	95481129	+	RNA	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:95481129delG	ENST00000432432.2	-	0	2231					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TTCATTTCCTGTGTTTGCTGC	0.368																																						ENST00000432432.2																			0																																																			729171							g.chr2:95481129delG			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95481129delG								NR_040113.1						0	2231	-								A6NC18	RNA	DEL	ENST00000432432.2	37																																																																																						0.368	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			16	186						16	186	---	---	---	---
NIFK	84365	broad.mit.edu	37	2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)agafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCTTCGTCTTTTTTTCCGT	0.303																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(859-861)gafs									126.0	124.0	125.0					2																	122485323		2203	4300	6503	SO:0001589	frameshift_variant	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485323delT																												ENST00000285814.4:c.859delA	2.37:g.122485323delT	ENSP00000285814:p.Arg289fs					AC018737.1_ENST00000419902.1_RNA	p.R289fs	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			7	931	-			289					A8K788|Q8TB66|Q96ED4	Frame_Shift_Del	DEL	ENST00000285814.4	37	c.859delA	CCDS2135.1																																																																																				0.303	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			7	115						7	115	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148657041	148657041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:148657041delA	ENST00000241416.7	+	3	914	c.278delA	c.(277-279)gaafs	p.E93fs	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GATTGTGTAGAAAAAAAAGAC	0.303																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(277-279)gafs		activin A receptor, type IIA							80.0	86.0	84.0					2																	148657041		2198	4296	6494	SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657041delA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.278delA	2.37:g.148657041delA	ENSP00000241416:p.Glu93fs					ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs	p.E93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	914	+			93					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	c.278delA	CCDS33301.1																																																																																				0.303	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		23	88						23	88	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:165551296delA	ENST00000392717.2	-	13	2838	c.2834delT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2605-2607)tgfs		cordon-bleu WH2 repeat protein-like 1							32.0	35.0	34.0					2																	165551296		2203	4300	6503	SO:0001589	frameshift_variant	22837							g.chr2:165551296delA	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2834delT	2.37:g.165551296delA	ENSP00000376478:p.Leu945fs					COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.L945fs	p.L869fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2827	-			945					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37	c.2606delT																																																																																					0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		8	47						8	47	---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gccfs	p.A108fs	HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(322-324)gcfs		homeobox D8							23.0	30.0	27.0					2																	176995417		1915	3930	5845	SO:0001589	frameshift_variant	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995417delC		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.323delC	2.37:g.176995417delC	ENSP00000315949:p.Ala108fs					HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs	p.A108fs	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	950	+			108					F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	ENST00000313173.4	37	c.323delC	CCDS2268.1																																																																																				0.741	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			8	72						8	72	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:9862377delC	ENST00000547186.1	+	7	893	c.677delC	c.(676-678)accfs	p.T226fs	TTLL3_ENST00000383827.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	226	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGTACCTCACCCCCGAGGGC	0.602																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(40-42)acfs		tubulin tyrosine ligase-like family, member 3							122.0	103.0	109.0					3																	9862377		2203	4300	6503	SO:0001589	frameshift_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9862377delC		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.677delC	3.37:g.9862377delC	ENSP00000446659:p.Thr226fs					TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|TTLL3_ENST00000547186.1_Frame_Shift_Del_p.T226fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs	p.T14fs			Q9Y4R7	TTLL3_HUMAN			1	2322	+	Medulloblastoma(99;0.227)		226					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Frame_Shift_Del	DEL	ENST00000547186.1	37	c.41delC																																																																																					0.602	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		12	77						12	77	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)aatfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216							protein complex binding (GO:0032403)	p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463																																						ENST00000392452.2																			1	Deletion - Frameshift(1)	p.N214fs*11(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(646-648)atfs		Mab-21 domain containing 2							160.0	147.0	151.0					3																	192517004		2203	4300	6503	SO:0001589	frameshift_variant	151963							g.chr3:192517004delT	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.647delA	3.37:g.192517004delT	ENSP00000376246:p.Asn216fs						p.N216fs	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	967	-			216					Q86VD8	Frame_Shift_Del	DEL	ENST00000392452.2	37	c.647delA	CCDS3302.2																																																																																				0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		10	101						10	101	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	436405	436406	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:436405_436406delCT	ENST00000338977.5	-	2	1862_1863	c.1814_1815delAG	c.(1813-1815)gagfs	p.E605fs	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	605					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CTTTGCCACACTCTTCACATTT	0.411																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1813-1815)gfs		zinc finger protein 721																																				SO:0001589	frameshift_variant	170960							g.chr4:436405_436406delCT	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1814_1815delAG	4.37:g.436407_436408delCT	ENSP00000340524:p.Glu605fs					ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs	p.E605fs							2	1862_1863	-								Q69YG7	Frame_Shift_Del	DEL	ENST00000338977.5	37	c.1814_1815delAG																																																																																					0.411	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		31	267						31	267	---	---	---	---
HNRNPDL	9987	broad.mit.edu	37	4	83350506	83350506	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:83350506delG	ENST00000295470.5	-	1	513	c.338delC	c.(337-339)cctfs	p.P113fs	HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.P113fs|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	113					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.P113fs*11(1)									GCTGTCGGCAGGGGGGTGCTG	0.597																																						ENST00000295470.5																			1	Deletion - Frameshift(1)	p.P113fs*11(1)	lung(1)								c.(337-339)ctfs		heterogeneous nuclear ribonucleoprotein D-like																																				SO:0001589	frameshift_variant	9987							g.chr4:83350506delG	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.338delC	4.37:g.83350506delG	ENSP00000295470:p.Pro113fs					HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.P113fs|HNRNPDL_ENST00000514511.1_5'UTR	p.P113fs	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					1	513	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Frame_Shift_Del	DEL	ENST00000295470.5	37	c.338delC	CCDS3593.1																																																																																				0.597	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		10	99						10	99	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157144	155157144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr4:155157144delA	ENST00000357232.4	-	25	7294	c.7295delT	c.(7294-7296)ttcfs	p.F2432fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2432	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGAGGGTGAAAAAATACTG	0.438																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7294-7296)tcfs		dachsous cadherin-related 2							83.0	85.0	84.0					4																	155157144		2203	4300	6503	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157144delA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7295delT	4.37:g.155157144delA	ENSP00000349768:p.Phe2432fs						p.F2432fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7294	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2432			Cadherin 22.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.7295delT	CCDS3785.1																																																																																				0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	92						7	92	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101794148	101794149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:101794148_101794149insA	ENST00000506729.1	-	6	1239_1240	c.1068_1069insT	c.(1066-1071)tttgacfs	p.D357fs	SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.D357fs|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.D295fs|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	357						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTCTGCTGTCAAAAAAATGAA	0.297																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1066-1071)ttacagfs		solute carrier organic anion transporter family, member 6A1																																				SO:0001589	frameshift_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794148_101794149insA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1069dupT	5.37:g.101794155_101794155dupA	ENSP00000421339:p.Asp357fs					SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.LQ356fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.LQ294fs|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR	p.LQ356fs			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1239_1240	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	356					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Frame_Shift_Ins	INS	ENST00000506729.1	37	c.1068_1069insT	CCDS34206.1																																																																																				0.297	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		7	81						7	81	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G	rs371598238		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)cccaaafs	p.K2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6202-6207)ccaattfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924483_150924484insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6205dupC	5.37:g.150924489_150924489dupG	ENSP00000261800:p.Lys2069fs						p.I2069fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6216_6217	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2069			Cadherin 17.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6204_6205insC	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	126						11	126	---	---	---	---
ZBTB22	9278	broad.mit.edu	37	6	33283004	33283005	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:33283004_33283005delCA	ENST00000431845.2	-	2	1840_1841	c.1689_1690delTG	c.(1687-1692)tgtgagfs	p.CE563fs	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	563					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGCCGGCGCTCACAGTGTCCTC	0.663																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1687-1692)tgagfs		zinc finger and BTB domain containing 22																																				SO:0001589	frameshift_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283004_33283005delCA	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1689_1690delTG	6.37:g.33283006_33283007delCA	ENSP00000407545:p.Cys563fs					ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs	p.CE563fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1840_1841	-			563					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	ENST00000431845.2	37	c.1689_1690delTG	CCDS4775.1																																																																																				0.663	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	75						8	75	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)accfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(952-954)acfs		ankyrin repeat and sterile alpha motif domain containing 1A							130.0	152.0	144.0					6																	34951143		2203	4300	6503	SO:0001589	frameshift_variant	23294					cytoplasm	protein binding	g.chr6:34951143delC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.953delC	6.37:g.34951143delC	ENSP00000353518:p.Thr318fs					ANKS1A_ENST00000535627.1_Intron	p.T318fs	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			7	1091	+			318					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Frame_Shift_Del	DEL	ENST00000360359.3	37	c.953delC	CCDS4798.1																																																																																				0.418	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		10	98						10	98	---	---	---	---
GJB7	375519	broad.mit.edu	37	6	87993980	87993980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:87993980delT	ENST00000525899.1	-	3	996	c.651delA	c.(649-651)aaafs	p.K217fs	GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	217					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.K217fs*>7(1)		endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GGACTTGAGGTTTTTTTAAAT	0.413																																						ENST00000525899.1																			1	Deletion - Frameshift(1)	p.K217fs*>7(1)	large_intestine(1)	endometrium(2)|large_intestine(3)	5						c.(649-651)aafs		gap junction protein, beta 7, 25kDa							66.0	67.0	67.0					6																	87993980		2203	4300	6503	SO:0001589	frameshift_variant	375519				cell communication	connexon complex|integral to membrane		g.chr6:87993980delT	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.651delA	6.37:g.87993980delT	ENSP00000435355:p.Lys217fs					GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs	p.K217fs	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0167)	3	996	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	217					B3KXL0|Q96KP0	Frame_Shift_Del	DEL	ENST00000525899.1	37	c.651delA	CCDS5008.1																																																																																				0.413	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1			7	82						7	82	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T	rs202061323		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)acafs	p.T304fs	AHI1_ENST00000327035.6_Frame_Shift_Ins_p.T304fs|AHI1_ENST00000457866.2_Frame_Shift_Ins_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	GRCh37	CI061497	AHI1	I		c.(910-912)aaafs		Abelson helper integration site 1																																				SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784283_135784284insT	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.911dupA	6.37:g.135784291_135784291dupT	ENSP00000356774:p.Thr304fs					AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1126_1127	-	Breast(56;0.239)|Colorectal(23;0.24)		304					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Ins	INS	ENST00000367800.4	37	c.910_911insA	CCDS47483.1																																																																																				0.307	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		7	54						7	54	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157100397	157100399	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:157100397_157100399delCGC	ENST00000350026.5	+	1	1335_1337	c.1334_1336delCGC	c.(1333-1338)gcgccg>gcg	p.P450del	ARID1B_ENST00000346085.5_In_Frame_Del_p.P450del|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000275248.4_In_Frame_Del_p.P392del|ARID1B_ENST00000367148.1_In_Frame_Del_p.P450del|RP11-230C9.2_ENST00000603191.1_lincRNA|RP11-230C9.3_ENST00000604792.1_RNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.		P -> PP. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCCAGCGCGCCGCCGCCGCC	0.778																																						ENST00000346085.5																			1	Insertion - In frame(1)	p.P392_S393insP(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1333-1338)gcg>g		AT rich interactive domain 1B (SWI1-like)																																				SO:0001651	inframe_deletion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100397_157100399delCGC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1334_1336delCGC	6.37:g.157100406_157100408delCGC	ENSP00000055163:p.Pro450del					ARID1B_ENST00000350026.5_In_Frame_Del_p.AP445del|ARID1B_ENST00000275248.4_In_Frame_Del_p.AP387del|ARID1B_ENST00000367148.1_In_Frame_Del_p.AP445del	p.AP445del	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1335_1337	+		Breast(66;0.000162)|Ovarian(120;0.0265)	445			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Del	DEL	ENST00000350026.5	37	c.1334_1336delCGC	CCDS5251.2																																																																																				0.778	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	5						3	5	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637																																						ENST00000355585.4																			1	Deletion - Frameshift(1)	p.P1113fs*5(1)	large_intestine(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3331-3333)ccfs		synaptojanin 2							31.0	35.0	34.0					6																	158508009		2203	4300	6503	SO:0001589	frameshift_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158508009delC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs					SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs	p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	23	3406	+			1114			Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	ENST00000355585.4	37	c.3331delC	CCDS5254.1																																																																																				0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			12	47						12	47	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167791449	167791450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr6:167791449_167791450insG	ENST00000397829.4	-	4	577_578	c.410_411insC	c.(409-411)cctfs	p.P137fs	TCP10_ENST00000366827.2_Frame_Shift_Ins_p.P137fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	164				D -> E (in Ref. 1; AAA82109 and 3; AAH63451). {ECO:0000305}.		cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCACCTTTGGAGGAGCTAAGTG	0.515																																						ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(409-411)cccfs		t-complex 10																																				SO:0001589	frameshift_variant	6953					cytosol		g.chr6:167791449_167791450insG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.411dupC	6.37:g.167791451_167791451dupG	ENSP00000380929:p.Pro137fs					TCP10_ENST00000397829.4_Frame_Shift_Ins_p.P137fs	p.P137fs			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	621_622	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	164	D -> E (in Ref. 1; AAA82109 and 3; AAH63451).				Q5JR60|Q6P4F4	Frame_Shift_Ins	INS	ENST00000397829.4	37	c.410_411insC	CCDS43527.1																																																																																				0.515	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		12	259						12	259	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		7	15						7	15	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72297412	72297413	+	RNA	INS	-	-	A			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:72297412_72297413insA	ENST00000435769.2	-	0	258				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AATACTCTATTAAAAAAAATAA	0.322																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)			,	2,4258		0,2,2128					,	-0.4	0.0			77	0,8252		0,0,4126	no	intron,intron	TYW1B	NM_001145441.1,NM_001145440.1	,	0,2,6254	A1A1,A1R,RR		0.0,0.0469,0.016	,	,		2,12510						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72297412_72297413insA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72297420_72297420dupA										Q6NUM6	TYW1B_HUMAN			0	234	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.322	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		14	89						14	89	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752493	91752494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:91752493_91752494insT	ENST00000003100.8	-	7	1191_1192	c.1026_1027insA	c.(1024-1029)aaatgtfs	p.C343fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.C238fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	337					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TCTAAATAACATTTTTTTTGAA	0.396																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1024-1029)aagttafs		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)		,	0,4264		0,0,2132					,	5.6	1.0			121	1,8253		0,1,4126	no	frameshift,frameshift	CYP51A1	NM_001146152.1,NM_000786.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752493_91752494insT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1027dupA	7.37:g.91752501_91752501dupT	ENSP00000003100:p.Cys343fs					LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.L238fs	p.L343fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1191_1192	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		337					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Ins	INS	ENST00000003100.8	37	c.1026_1027insA	CCDS5623.1																																																																																				0.396	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			16	152						16	152	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135258404	135258404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr7:135258404delA	ENST00000285968.6	+	3	200	c.174delA	c.(172-174)ccafs	p.P58fs	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	58					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATTGTAGCCAAAAAATGTTC	0.413																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(172-174)ccfs		nucleoporin 205kDa							67.0	66.0	66.0					7																	135258404		2203	4300	6503	SO:0001589	frameshift_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135258404delA	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.174delA	7.37:g.135258404delA	ENSP00000285968:p.Pro58fs					NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	p.P58fs	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			3	200	+			58					A6H8X3|Q86YC1	Frame_Shift_Del	DEL	ENST00000285968.6	37	c.174delA	CCDS34759.1																																																																																				0.413	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			7	59						7	59	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470757	10470757	+	Frame_Shift_Del	DEL	G	G	-	rs74594406	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:10470757delG	ENST00000382483.3	-	4	1074	c.851delC	c.(850-852)ccgfs	p.P284fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGGCCCACCGGGGGGTTGCT	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(850-852)cgfs		retinitis pigmentosa 1-like 1							57.0	63.0	61.0					8																	10470757		1951	4139	6090	SO:0001589	frameshift_variant	94137				intracellular signal transduction			g.chr8:10470757delG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.851delC	8.37:g.10470757delG	ENSP00000371923:p.Pro284fs						p.P284fs	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1074	-			284					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	c.851delC	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	122						8	122	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18490296	18490296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:18490296delT	ENST00000327040.8	-	11	2339	c.2237delA	c.(2236-2238)aagfs	p.K746fs	PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.K748fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	747					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGGAGACTTTTTTTTCTC	0.363																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2242-2244)agfs		pleckstrin and Sec7 domain containing 3							134.0	110.0	118.0					8																	18490296		2203	4300	6503	SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18490296delT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2237delA	8.37:g.18490296delT	ENSP00000324127:p.Lys746fs					PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.K746fs	p.K748fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	11	2345	-			747					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	ENST00000327040.8	37	c.2243delA	CCDS43720.1																																																																																				0.363	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	42						7	42	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798569	41798569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr8:41798569delC	ENST00000396930.3	-	16	3373	c.2830delG	c.(2830-2832)gttfs	p.V944fs	KAT6A_ENST00000265713.2_Frame_Shift_Del_p.V944fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.V944fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	944					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAGGGCTCAACCCCCTCACTG	0.552																																						ENST00000396930.3																			0											c.(2830-2832)ttfs		K(lysine) acetyltransferase 6A							118.0	113.0	115.0					8																	41798569		2203	4300	6503	SO:0001589	frameshift_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798569delC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2830delG	8.37:g.41798569delC	ENSP00000380136:p.Val944fs					KAT6A_ENST00000406337.1_Frame_Shift_Del_p.V944fs|KAT6A_ENST00000265713.2_Frame_Shift_Del_p.V944fs	p.V944fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3373	-			944					Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	37	c.2830delG	CCDS6124.1																																																																																				0.552	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	159						9	159	---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-	rs146287872	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(913-915)del		zinc finger, DHHC-type containing 16			,,,,	1,4261		0,1,2130					,,,,	6.1	1.0			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99215505_99215507delAAG	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del					ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000370854.3_In_Frame_Del_p.K306del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del	p.K306del	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	10	1262_1264	+		Colorectal(252;0.0846)	306					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	ENST00000370854.3	37	c.913_915delAAG	CCDS7460.1																																																																																				0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		11	136						11	136	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		13	4						13	4	---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:67269818delC	ENST00000534749.1	-	3	548	c.360delG	c.(358-360)gggfs	p.G120fs	PITPNM1_ENST00000356404.3_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(358-360)ggfs		phosphatidylinositol transfer protein, membrane-associated 1							75.0	74.0	75.0					11																	67269818		2200	4295	6495	SO:0001589	frameshift_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269818delC	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.360delG	11.37:g.67269818delC	ENSP00000437286:p.Gly120fs					PITPNM1_ENST00000534749.1_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs	p.G120fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			4	585	-			120					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Frame_Shift_Del	DEL	ENST00000534749.1	37	c.360delG	CCDS31620.1																																																																																				0.607	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		7	71						7	71	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75431143	75431143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:75431143delG	ENST00000198801.5	+	2	268	c.198delG	c.(196-198)cagfs	p.Q66fs	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	66					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCCACGGCAGGGGGGCCGGC	0.562																																						ENST00000198801.5																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(196-198)cafs		monoacylglycerol O-acyltransferase 2							158.0	164.0	162.0					11																	75431143		2200	4293	6493	SO:0001589	frameshift_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75431143delG	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.198delG	11.37:g.75431143delG	ENSP00000198801:p.Gln66fs					MOGAT2_ENST00000526712.1_5'UTR	p.Q66fs	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN			2	268	+	Ovarian(111;0.103)		66					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Frame_Shift_Del	DEL	ENST00000198801.5	37	c.198delG	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		26	185						26	185	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:92533399delC	ENST00000298047.6	+	9	7237	c.7220delC	c.(7219-7221)gccfs	p.A2407fs	FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7219-7221)gcfs		FAT atypical cadherin 3							85.0	86.0	86.0					11																	92533399		1825	4078	5903	SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533399delC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7220delC	11.37:g.92533399delC	ENSP00000298047:p.Ala2407fs	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs	p.A2407fs			Q8TDW7	FAT3_HUMAN			9	7237	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2407			Cadherin 22.		B5MDB0|Q96AU6	Frame_Shift_Del	DEL	ENST00000298047.6	37	c.7220delC																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	133						7	133	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101362286	101362287	+	Splice_Site	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:101362286_101362287insT	ENST00000344327.3	-	3	1552_1553		c.e3+1		TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6						aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGACCTTACTTTTTTTACTT	0.396																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.e3+1		transient receptor potential cation channel, subfamily C, member 6																																				SO:0001630	splice_region_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362286_101362287insT	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1128+1->A	11.37:g.101362293_101362293dupT						TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Intron		NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1552_1553	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)						Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	INS	ENST00000344327.3	37		CCDS8311.1																																																																																				0.396	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	Intron	14	177						14	177	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121475905	121475905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr11:121475905delA	ENST00000260197.7	+	34	4864	c.4735delA	c.(4735-4737)aaafs	p.K1580fs	SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs|SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs|SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1580	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATGAGGCCCAAAAAAATGCC	0.438																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4735-4737)aafs		sortilin-related receptor, L(DLR class) A repeats containing							150.0	149.0	149.0					11																	121475905		2203	4299	6502	SO:0001589	frameshift_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121475905delA	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4735delA	11.37:g.121475905delA	ENSP00000260197:p.Lys1580fs					SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs|SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs|SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs	p.K1580fs	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	34	4864	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1580			Fibronectin type-III 1.		B2RNX7|Q92856	Frame_Shift_Del	DEL	ENST00000260197.7	37	c.4735delA	CCDS8436.1																																																																																				0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		9	102						9	102	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:2968088delG	ENST00000359843.3	-	9	2076	c.2008delC	c.(2008-2010)cttfs	p.L670fs	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Frame_Shift_Del_p.L708fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|AC005841.1_ENST00000382678.3_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(2122-2124)ttfs		forkhead box M1							44.0	50.0	48.0					12																	2968088		2203	4300	6503	SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968088delG	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2008delC	12.37:g.2968088delG	ENSP00000352901:p.Leu670fs					FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs	p.L708fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2235	-			670					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	c.2122delC	CCDS8515.1																																																																																				0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		7	63						7	63	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	5	10						5	10	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	513						9	513	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435201	18435202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:18435201_18435202insT	ENST00000266497.5	+	1	224_225	c.186_187insT	c.(187-189)tttfs	p.F63fs	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.F63fs|PIK3C2G_ENST00000433979.1_Frame_Shift_Ins_p.F63fs|PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.F63fs			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	63					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGCC	0.406																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(184-189)acttttfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma																																				SO:0001589	frameshift_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435201_18435202insT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.192dupT	12.37:g.18435207_18435207dupT	ENSP00000266497:p.Phe63fs					PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs	p.TF62fs	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	302_303	+		Hepatocellular(102;0.194)	62					A1L3U0	Frame_Shift_Ins	INS	ENST00000266497.5	37	c.186_187insT	CCDS44839.1																																																																																				0.406	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		11	75						11	75	---	---	---	---
MED21	9412	broad.mit.edu	37	12	27181336	27181337	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:27181336_27181337delCA	ENST00000282892.3	+	4	407_408	c.377_378delCA	c.(376-378)gcafs	p.A126fs	MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	126					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					GCTGATATTGCACAGTCACAGC	0.45																																						ENST00000282892.3																			0											c.(376-378)gfs		mediator complex subunit 21																																				SO:0001589	frameshift_variant	9412				positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity	g.chr12:27181336_27181337delCA	U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"""SRB7 (suppressor of RNA polymerase B, yeast) homolog"", ""SRB7 suppressor of RNA polymerase B homolog (yeast)"""	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.377_378delCA	12.37:g.27181338_27181339delCA	ENSP00000282892:p.Ala126fs					MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs	p.A126fs	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN			4	407_408	+	Colorectal(261;0.0847)		126					B2R4I3|Q6IB05|Q92811	Frame_Shift_Del	DEL	ENST00000282892.3	37	c.377_378delCA	CCDS8711.1																																																																																				0.450	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403262.1	NM_004264		11	116						11	116	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs						p.P647fs	NM_003482.3	NP_003473.3					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	74						11	74	---	---	---	---
PMEL	6490	broad.mit.edu	37	12	56355458	56355470	+	Frame_Shift_Del	DEL	GTTCCAGGCTTTG	GTTCCAGGCTTTG	-	rs144985891		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:56355458_56355470delGTTCCAGGCTTTG	ENST00000548747.1	-	2	785_797	c.123_135delCAAAGCCTGGAAC	c.(121-135)accaaagcctggaacfs	p.TKAWN41fs	PMEL_ENST00000360714.4_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000449260.2_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000536427.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Intron			P40967	PMEL_HUMAN	premelanosome protein	41					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGCTGCCTGTTCCAGGCTTTGGTTCTGAGTT	0.54																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(121-135)acfs		premelanosome protein																																				SO:0001589	frameshift_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355458_56355470delGTTCCAGGCTTTG	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.123_135delCAAAGCCTGGAAC	12.37:g.56355458_56355470delGTTCCAGGCTTTG	ENSP00000448828:p.Thr41fs					PMEL_ENST00000536427.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000360714.4_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000449260.2_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000552882.1_Frame_Shift_Del_p.TKAWN41fs	p.TKAWN41fs			P40967	PMEL_HUMAN			2	785_797	-			41					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Frame_Shift_Del	DEL	ENST00000548747.1	37	c.123_135delCAAAGCCTGGAAC	CCDS8897.1																																																																																				0.540	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		11	167						11	167	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)gggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4462-4464)ggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						106.0	93.0	97.0					12																	57572242		2203	4300	6503	SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572242delG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4462delG	12.37:g.57572242delG	ENSP00000243077:p.Gly1489fs						p.G1489fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4928	+			1489					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.4462delG	CCDS8932.1																																																																																				0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	118						7	118	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88553917	88553917	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:88553917delT	ENST00000266712.6	+	5	755	c.535delT	c.(535-537)tttfs	p.F179fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	179					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTGACAGTGTTTTTAGTGGC	0.318																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(535-537)ttfs		transmembrane and tetratricopeptide repeat containing 3							113.0	118.0	117.0					12																	88553917		2203	4300	6503	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88553917delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.535delT	12.37:g.88553917delT	ENSP00000266712:p.Phe179fs						p.F179fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			5	755	+			179					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.535delT	CCDS9032.1																																																																																				0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		11	165						11	165	---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917031	89917031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:89917031delA	ENST00000529983.2	-	1	1552	c.1296delT	c.(1294-1296)tttfs	p.F432fs	POC1B-GALNT4_ENST00000547474.1_3'UTR|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Del_p.F429fs|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.F260fs|POC1B_ENST00000393179.4_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	432					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GTAAATTAGGAAAAACGTTTT	0.403																																						ENST00000548729.1																			0											c.(1285-1287)ttfs									86.0	84.0	85.0					12																	89917031		1840	4099	5939	SO:0001589	frameshift_variant	100528030							g.chr12:89917031delA	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1296delT	12.37:g.89917031delA	ENSP00000436604:p.Phe432fs					POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.F432fs|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.F260fs	p.F429fs	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1589	-								B2R775|B4DMX6|O00208	Frame_Shift_Del	DEL	ENST00000529983.2	37	c.1287delT	CCDS53817.1																																																																																				0.403	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		9	97						9	97	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042354	100042354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr12:100042354delA	ENST00000324341.1	+	1	824	c.402delA	c.(400-402)gtafs	p.V134fs	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACAACAGCGTAAAAAAACAGC	0.478																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)gtfs		family with sequence similarity 71, member C							76.0	76.0	76.0					12																	100042354		2203	4300	6503	SO:0001589	frameshift_variant	196472							g.chr12:100042354delA		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.402delA	12.37:g.100042354delA	ENSP00000315247:p.Val134fs					ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	p.V134fs	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	824	+			134					B2R6Y6	Frame_Shift_Del	DEL	ENST00000324341.1	37	c.402delA	CCDS9072.1																																																																																				0.478	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		13	91						13	91	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			5	8						5	8	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86368721	86368722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr13:86368721_86368722insT	ENST00000400286.2	-	2	2520_2521	c.1922_1923insA	c.(1921-1923)aagfs	p.K641fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATCT	0.411																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1921-1923)aaafs		SLIT and NTRK-like family, member 6																																				SO:0001589	frameshift_variant	84189					integral to membrane		g.chr13:86368721_86368722insT	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1923dupA	13.37:g.86368726_86368726dupT	ENSP00000383143:p.Lys641fs						p.K641fs	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2520_2521	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		641					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Frame_Shift_Ins	INS	ENST00000400286.2	37	c.1922_1923insA	CCDS41903.1																																																																																				0.411	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		13	156						13	156	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	A	-	rs143681767		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:45645955delA	ENST00000267430.5	+	14	4083	c.3998delA	c.(3997-3999)caafs	p.Q1333fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1333					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3997-3999)cafs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							52.0	51.0	51.0					14																	45645955		2202	4297	6499	SO:0001589	frameshift_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645955delA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3998delA	14.37:g.45645955delA	ENSP00000267430:p.Gln1333fs					FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	p.Q1333fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	4083	+			1333					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	ENST00000267430.5	37	c.3998delA	CCDS32070.1																																																																																				0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		12	82						12	82	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103805991	103805991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr14:103805991delA	ENST00000216554.3	+	10	1598	c.922delA	c.(922-924)aaafs	p.K309fs	EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	309	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TCACAACAACAAAAAAGCCCA	0.388																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(922-924)aafs		eukaryotic translation initiation factor 5							118.0	107.0	110.0					14																	103805991		2203	4300	6503	SO:0001589	frameshift_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103805991delA	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.922delA	14.37:g.103805991delA	ENSP00000216554:p.Lys309fs					EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs	p.K309fs	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		10	1598	+		Melanoma(154;0.155)	309			W2.		Q53XB3|Q9H5N2|Q9UG48	Frame_Shift_Del	DEL	ENST00000216554.3	37	c.922delA	CCDS9980.1																																																																																				0.388	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		12	124						12	124	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cacfs	p.H527fs	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1579-1581)cctfs		EH-domain containing 4				15,4243		0,15,2114						4.7	1.0			23	11,8239		0,11,4114	no	frameshift	EHD4	NM_139265.3		0,26,6228	A1A1,A1R,RR		0.1333,0.3523,0.2079				26,12482				SO:0001589	frameshift_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192889_42192890insG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1580dupC	15.37:g.42192896_42192896dupG	ENSP00000220325:p.His527fs						p.P527fs	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1662_1663	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	527			EH.		Q9HAR1|Q9NZN2	Frame_Shift_Ins	INS	ENST00000220325.4	37	c.1579_1580insC	CCDS10081.1																																																																																				0.673	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		8	29						8	29	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50925140	50925140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:50925140delT	ENST00000313478.7	-	9	1338	c.1057delA	c.(1057-1059)acafs	p.T353fs	TRPM7_ENST00000560955.1_Frame_Shift_Del_p.T353fs	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	353					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTAAATGTTTTTTTGATA	0.338																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1057-1059)cafs		transient receptor potential cation channel, subfamily M, member 7							101.0	93.0	95.0					15																	50925140		1805	4072	5877	SO:0001589	frameshift_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50925140delT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1057delA	15.37:g.50925140delT	ENSP00000320239:p.Thr353fs					TRPM7_ENST00000560955.1_Frame_Shift_Del_p.T353fs	p.T353fs	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	9	1338	-			353					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Frame_Shift_Del	DEL	ENST00000313478.7	37	c.1057delA	CCDS42035.1																																																																																				0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		10	64						10	64	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1000-1002)ctfs		transmembrane 6 superfamily member 1							115.0	114.0	114.0					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	53346					integral to membrane		g.chr15:83805312delT	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs					TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs	p.L334fs			Q9BZW5	TM6S1_HUMAN			10	1275	+			334					A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	ENST00000322019.9	37	c.1001delT	CCDS10323.1																																																																																				0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		8	133						8	133	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	50						9	50	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966679	54966680	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:54966679_54966680delAG	ENST00000394636.4	+	2	856_857	c.519_520delAG	c.(517-522)aaagagfs	p.E174fs	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Del_p.E174fs|IRX5_ENST00000558597.1_Frame_Shift_Del_p.E108fs			P78411	IRX5_HUMAN	iroquois homeobox 5	174					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCTCAAGAAAGAGAATAAAAT	0.599																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(517-522)aaagfs		iroquois homeobox 5																																				SO:0001589	frameshift_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966679_54966680delAG	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.519_520delAG	16.37:g.54966681_54966682delAG	ENSP00000378132:p.Glu174fs					IRX5_ENST00000558597.1_Frame_Shift_Del_p.KE107fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Del_p.KE173fs	p.KE173fs			P78411	IRX5_HUMAN			2	856_857	+			173					H0YMS7|P78416|Q7Z2E1	Frame_Shift_Del	DEL	ENST00000394636.4	37	c.519_520delAG	CCDS10751.1																																																																																				0.599	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			14	132						14	132	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75268875	75268875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:75268875delG	ENST00000162330.5	-	5	2048	c.1922delC	c.(1921-1923)cctfs	p.P641fs	BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.P612fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	641					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGAACTTAGGGGGTGAGGG	0.657																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1834-1836)ctfs		breast cancer anti-estrogen resistance 1							64.0	65.0	65.0					16																	75268875		2198	4300	6498	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75268875delG	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1922delC	16.37:g.75268875delG	ENSP00000162330:p.Pro641fs					BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs	p.P612fs			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	3487	-			641			Ser-rich.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.1835delC	CCDS10915.1																																																																																				0.657	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		10	76						10	76	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)tttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2083-2085)ttfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	143.0	143.0					16																	77356311		2198	4300	6498	SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356311delA	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2085delT	16.37:g.77356311delA	ENSP00000282849:p.Phe695fs						p.F695fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503	-			695			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Del	DEL	ENST00000282849.5	37	c.2085delT	CCDS10926.1																																																																																				0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			8	86						8	86	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963208	27963208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:27963208delA	ENST00000269033.3	-	14	2110	c.1959delT	c.(1957-1959)tttfs	p.F653fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	653					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTAGGGCACTAAAAAAGTCAA	0.502																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1957-1959)ttfs		slingshot protein phosphatase 2							76.0	78.0	77.0					17																	27963208		2203	4300	6503	SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963208delA	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1959delT	17.37:g.27963208delA	ENSP00000269033:p.Phe653fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs	p.F653fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2110	-			653					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.1959delT	CCDS11253.1																																																																																				0.502	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		13	111						13	111	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr17:40939870delG	ENST00000246914.5	+	8	1837	c.1816delG	c.(1816-1818)gggfs	p.G607fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	607					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCAGCCCCCTGGGGGGGTGCC	0.637																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1816-1818)ggfs		WNK lysine deficient protein kinase 4							36.0	39.0	38.0					17																	40939870		2156	4214	6370	SO:0001589	frameshift_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939870delG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1816delG	17.37:g.40939870delG	ENSP00000246914:p.Gly607fs					WNK4_ENST00000587705.1_Intron	p.G607fs	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	8	1837	+		Breast(137;0.000143)	607					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Del	DEL	ENST00000246914.5	37	c.1816delG	CCDS11439.1																																																																																				0.637	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			11	77						11	77	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11621297	11621298	+	lincRNA	INS	-	-	G	rs557234716		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr18:11621297_11621298insG	ENST00000589395.1	-	0	0				NPIPB1P_ENST00000547442.1_RNA																							TTCTTGCAGAAGGGGGGATCTG	0.46																																						ENST00000547442.1																			0																																																			729602							g.chr18:11621297_11621298insG																													18.37:g.11621303_11621303dupG														0	689_690	-									RNA	INS	ENST00000589395.1	37																																																																																						0.460	RP11-677O4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000452163.1			10	302						10	302	---	---	---	---
MIER2	54531	broad.mit.edu	37	19	308884	308886	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:308884_308886delGTA	ENST00000264819.4	-	11	1034_1036	c.1024_1026delTAC	c.(1024-1026)tacdel	p.Y342del	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	342	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCTTCCACAGGTAGTAGTACTCG	0.67																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1024-1026)del		mesoderm induction early response 1, family member 2																																				SO:0001651	inframe_deletion	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308884_308886delGTA	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1024_1026delTAC	19.37:g.308890_308892delGTA	ENSP00000264819:p.Tyr342del						p.Y342del	NM_017550.1	NP_060020.1	Q8N344	MIER2_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)	11	1034_1036	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	342			SANT.		Q9ULM7	In_Frame_Del	DEL	ENST00000264819.4	37	c.1024_1026delTAC	CCDS32855.1																																																																																				0.670	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		10	93						10	93	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2422029	2422030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:2422029_2422030insT	ENST00000332578.3	+	13	2230_2231	c.2230_2231insT	c.(2230-2232)cccfs	p.P744fs		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	744					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TCCCATGTCTCCCCCCTCGACC	0.663																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2230-2232)cccfs		transmembrane protease, serine 9																																				SO:0001589	frameshift_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2422029_2422030insT	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		Exception_encountered	19.37:g.2422029_2422030insT	ENSP00000330264:p.Pro744fs						p.P744fs	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_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)	13	2230_2231	+			744					Q6ZND6|Q7Z411	Frame_Shift_Ins	INS	ENST00000332578.3	37	c.2230_2231insT	CCDS12088.1																																																																																				0.663	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		7	102						7	102	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3586543	3586543	+	Frame_Shift_Del	DEL	G	G	-	rs8113232	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:3586543delG	ENST00000322315.5	+	2	321	c.276delG	c.(274-276)ctgfs	p.L92fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	92										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTCCTGGGGGGTCAGA	0.577											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(274-276)ctfs		GIPC PDZ domain containing family, member 3							76.0	77.0	76.0					19																	3586543		2203	4300	6503	SO:0001589	frameshift_variant	126326							g.chr19:3586543delG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.276delG	19.37:g.3586543delG	ENSP00000319254:p.Leu92fs		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.L92fs	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	321	+			92					O75227	Frame_Shift_Del	DEL	ENST00000322315.5	37	c.276delG	CCDS32871.1																																																																																				0.577	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		10	93						10	93	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1633-1635)agfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							22.0	28.0	26.0					19																	40316612		2161	4245	6406	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316612delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1633delC	19.37:g.40316612delG	ENSP00000469863:p.Gln545fs					DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs	p.Q545fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2101	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		545					O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1633delC	CCDS12543.1																																																																																				0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		7	48						7	48	---	---	---	---
DEDD2	162989	broad.mit.edu	37	19	42713983	42713983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:42713983delG	ENST00000595337.1	-	4	545	c.458delC	c.(457-459)ccafs	p.P153fs	DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	153					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCGCTTGGTTGGGGGGGAGCC	0.662																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(457-459)cafs		death effector domain containing 2							14.0	18.0	16.0					19																	42713983		1958	3937	5895	SO:0001589	frameshift_variant	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713983delG	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.458delC	19.37:g.42713983delG	ENSP00000470082:p.Pro153fs					DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs|DEDD2_ENST00000593804.1_5'UTR	p.P153fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	545	-		Prostate(69;0.0704)	153					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Del	DEL	ENST00000595337.1	37	c.458delC	CCDS12597.1																																																																																				0.662	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		7	32						7	32	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424760	47424760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:47424760delA	ENST00000404338.3	+	1	2828	c.2828delA	c.(2827-2829)gaafs	p.E943fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	943					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.K945fs*3(1)									GATGTGGTGGAAAAAAAGAAC	0.473																																						ENST00000404338.3																			1	Deletion - Frameshift(1)	p.K945fs*3(1)	breast(1)								c.(2827-2829)gafs		Rho GTPase activating protein 35																																				SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424760delA	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2828delA	19.37:g.47424760delA	ENSP00000385720:p.Glu943fs						p.E943fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2828	+			943					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2828delA	CCDS46127.1																																																																																				0.473	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		18	139						18	139	---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244287	48244287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:48244287delG	ENST00000263277.3	+	6	1481	c.1230delG	c.(1228-1230)cagfs	p.Q410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGGCGTGCAGGGGGGCGCTT	0.677																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1228-1230)cafs		EH-domain containing 2							46.0	48.0	47.0					19																	48244287		2203	4299	6502	SO:0001589	frameshift_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244287delG	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1230delG	19.37:g.48244287delG	ENSP00000263277:p.Gln410fs					EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs	p.Q410fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1481	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	410					B2RDH9|B4DNU6|Q96CB6	Frame_Shift_Del	DEL	ENST00000263277.3	37	c.1230delG	CCDS12704.1																																																																																				0.677	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			8	62						8	62	---	---	---	---
ZSCAN5A	79149	broad.mit.edu	37	19	56758135	56758135	+	Intron	DEL	A	A	-	rs61738591	byFrequency	TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chr19:56758135delA	ENST00000587340.1	-	4	694				ZSCAN5D_ENST00000600684.1_Frame_Shift_Del_p.K256fs|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAAGGAACCCAAAAAAAGAGC	0.498																																						ENST00000600684.1																			0											c.(763-765)aafs		zinc finger and SCAN domain containing 5D																																				SO:0001627	intron_variant	646698							g.chr19:56758135delA	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.2-21718T>-	19.37:g.56758135delA						ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000587340.1_Intron	p.255fs							5	763	+								B4DX98|Q49A73|Q53F04|Q8N7B3	Frame_Shift_Del	DEL	ENST00000587340.1	37	c.763delA	CCDS12941.1																																																																																				0.498	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		10	86						10	86	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134260	91134261	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:91134260_91134261delAC	ENST00000373094.1	+	2	3866_3867	c.3021_3022delAC	c.(3019-3024)gtacacfs	p.H1008fs	PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.H1008fs|PCDH11X_ENST00000504220.2_Frame_Shift_Del_p.H1008fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1008					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTGTCCGTACACACCAGACC	0.406																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3019-3024)gtacfs		protocadherin 11 X-linked																																				SO:0001589	frameshift_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134260_91134261delAC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3021_3022delAC	X.37:g.91134264_91134265delAC	ENSP00000362186:p.His1008fs					PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000504220.1_Frame_Shift_Del_p.VH1007fs	p.VH1007fs	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3866_3867	+			1007					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Frame_Shift_Del	DEL	ENST00000373094.1	37	c.3021_3022delAC	CCDS14461.1																																																																																				0.406	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		19	154						19	154	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	106016281	106016281	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:106016281delT	ENST00000255499.2	+	2	873	c.623delT	c.(622-624)attfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CACTATTCAATTTTTTTCGTT	0.388																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(622-624)atfs		ring finger protein 128, E3 ubiquitin protein ligase							207.0	166.0	180.0					X																	106016281		2203	4300	6503	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016281delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.623delT	X.37:g.106016281delT	ENSP00000255499:p.Ile208fs					RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs	p.I208fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	873	+			208					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000255499.2	37	c.623delT	CCDS14521.1																																																																																				0.388	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		11	160						11	160	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124029940	124029941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:124029940_124029941insT	ENST00000371130.3	-	2	430_431	c.367_368insA	c.(367-369)atgfs	p.M123fs	TENM1_ENST00000422452.2_Frame_Shift_Ins_p.M123fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	123	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCTTATCCACATTCTTAGTGCA	0.495																																						ENST00000422452.2																			0											c.(367-369)gtgfs		teneurin transmembrane protein 1																																				SO:0001589	frameshift_variant	10178							g.chrX:124029940_124029941insT	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.368dupA	X.37:g.124029942_124029942dupT	ENSP00000360171:p.Met123fs					TENM1_ENST00000371130.3_Frame_Shift_Ins_p.V123fs	p.V123fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					2	430_431	-								B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	c.367_368insA	CCDS14609.1																																																																																				0.495	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		49	291						49	291	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153049647	153049647	+	Frame_Shift_Del	DEL	G	G	-	rs369594696		TCGA-CN-5369-01A-01D-1434-08	TCGA-CN-5369-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c8e6937-9fd7-41cc-ac74-d8b75235d4b3	ff349f37-b5ea-4475-bcd8-02d18f80c40e	g.chrX:153049647delG	ENST00000370101.3	+	10	1172	c.1126delG	c.(1126-1128)gggfs	p.G377fs	SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs|SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs|SRPK3_ENST00000489426.1_Frame_Shift_Del_p.G444fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGAGAGACCGGGGGCCTCCT	0.642																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1327-1329)ggfs		SRSF protein kinase 3							41.0	39.0	40.0					X																	153049647		2203	4300	6503	SO:0001589	frameshift_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049647delG	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1126delG	X.37:g.153049647delG	ENSP00000359119:p.Gly377fs					SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs|SRPK3_ENST00000370101.3_Frame_Shift_Del_p.G377fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs	p.G444fs			Q9UPE1	SRPK3_HUMAN			16	3693	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		377			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Frame_Shift_Del	DEL	ENST00000370101.3	37	c.1327delG	CCDS35441.1																																																																																				0.642	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		8	80						8	80	---	---	---	---
