#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_ACHILLES_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
MEGF6	1953	broad.mit.edu	37	1	3428235	3428235	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:3428235G>A	ENST00000356575.4	-	9	1219	c.993C>T	c.(991-993)atC>atT	p.I331I	MEGF6_ENST00000294599.4_Silent_p.I226I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	331						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGTTCACGATTTCCATCT	0.627																																					Ovarian(73;978 3658)	Ovarian(73;978 3658)	uc001akl.2		NA																	0				large_intestine(1)	1						c.(991-993)ATC>ATT		EGF-like-domain, multiple 3 precursor							54.0	64.0	61.0					1																	3428235		2041	4194	6235	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3428235G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.993C>T	1.37:g.3428235G>A						MEGF6_uc001akk.2_Silent_p.I226I	p.I331I	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	9	1220	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	331					Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.993C>T	CCDS41237.1																																																																																				0.627	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		6	60	0	0	0	0.038147	0	6	60				
CHD5	26038	broad.mit.edu	37	1	6186807	6186807	+	Splice_Site	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:6186807C>T	ENST00000262450.3	-	26	4003		c.e26-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCACCTCCTCCTGGGGACGCA	0.647																																							uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.e26-1		chromodomain helicase DNA binding protein 5							107.0	77.0	87.0					1																	6186807		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6186807C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3904-1G>A	1.37:g.6186807C>T						CHD5_uc001alz.1_Splice_Site_p.E159_splice|CHD5_uc001ama.1_Splice_Site|CHD5_uc001amc.1_Splice_Site|CHD5_uc009vlx.1_Splice_Site	p.E1302_splice	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	26	4004	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37	c.3904_splice	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821269	0.71028	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6109394	1.000000	0.71417	0.992000	0.48379	0.806000	0.45545	4.816000	0.62642	2.168000	0.68352	0.561000	0.74099	.		0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Intron	3	39	0	0	0	0.004672	0	3	39				
PIK3CD	5293	broad.mit.edu	37	1	9783217	9783217	+	Missense_Mutation	SNP	C	C	T	rs140820694		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:9783217C>T	ENST00000377346.4	+	20	2656	c.2461C>T	c.(2461-2463)Cgc>Tgc	p.R821C	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R845C|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845C	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CACCGGGGACCGCACAGGCCT	0.602																																							uc001aqb.3		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(2461-2463)CGC>TGC		catalytic phosphatidylinositol 3-kinase delta		C	CYS/ARG	0,4406		0,0,2203	141.0	141.0	141.0		2461	3.8	0.1	1	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	missense	PIK3CD	NM_005026.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	821/1045	9783217	2,13004	2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783217C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2461C>T	1.37:g.9783217C>T	ENSP00000366563:p.Arg821Cys					PIK3CD_uc010oaf.1_Missense_Mutation_p.R820C|PIK3CD_uc001aqe.3_Missense_Mutation_p.R845C	p.R821C	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	20	2669	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	821			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2461C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184188	0.57800	0.0	2.33E-4	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.81579	-1.51;-1.51;-1.51	4.75	3.84	0.44239	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.070648	0.56097	D	0.000021	D	0.84538	0.5494	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.99	D;D;P	0.63957	0.913;0.92;0.832	T	0.82746	-0.0305	10	0.44086	T	0.13	-14.8148	8.077	0.30722	0.1971:0.7171:0.0:0.0858	.	820;845;821	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	C	845;821;845;845	ENSP00000446444:R845C;ENSP00000366563:R821C;ENSP00000354410:R845C	ENSP00000353766:R845C	R	+	1	0	PIK3CD	9705804	1.000000	0.71417	0.099000	0.21106	0.948000	0.59901	2.878000	0.48515	0.985000	0.38656	0.563000	0.77884	CGC		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		10	239	0	0	0	0.008291	0	10	239				
PRAMEF12	390999	broad.mit.edu	37	1	12835688	12835688	+	Missense_Mutation	SNP	G	G	A	rs369283541		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:12835688G>A	ENST00000357726.4	+	2	317	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	97					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCACAGGCGGTGGAAACTT	0.517																																							uc001aui.2		NA																	0				ovary(3)	3						c.(289-291)CGG>CAG		PRAME family member 12		G	GLN/ARG	1,4321		0,1,2160	142.0	163.0	156.0		290	-0.5	0.0	1		156	0,8572		0,0,4286	no	missense	PRAMEF12	NM_001080830.1	43	0,1,6446	AA,AG,GG		0.0,0.0231,0.0078	benign	97/484	12835688	1,12893	2161	4286	6447	SO:0001583	missense	390999							g.chr1:12835688G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.290G>A	1.37:g.12835688G>A	ENSP00000350358:p.Arg97Gln						p.R97Q	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	317	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	97						Missense_Mutation	SNP	ENST00000357726.4	37	c.290G>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311352	0.23821	2.31E-4	0.0	ENSG00000116726	ENST00000357726	T	0.04317	3.65	2.8	-0.464	0.12160	.	0.177429	0.46442	D	0.000282	T	0.06325	0.0163	M	0.81497	2.545	0.09310	N	1	B	0.28400	0.21	B	0.22753	0.041	T	0.21759	-1.0236	10	0.62326	D	0.03	.	4.603	0.12363	0.1467:0.4484:0.4049:0.0	.	97	O95522	PRA12_HUMAN	Q	97	ENSP00000350358:R97Q	ENSP00000350358:R97Q	R	+	2	0	PRAMEF12	12758275	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	-0.048000	0.11944	-0.091000	0.12440	-0.802000	0.03209	CGG		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		15	295	0	0	0	0.028581	0	15	295				
ARID1A	8289	broad.mit.edu	37	1	27106069	27106069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:27106069C>T	ENST00000324856.7	+	20	6051	c.5680C>T	c.(5680-5682)Cag>Tag	p.Q1894*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1677*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q222*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1511*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1894					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACAACAGACCAGGAGGGGCC	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5680-5682)CAG>TAG		AT rich interactive domain 1A isoform a							61.0	69.0	66.0					1																	27106069		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106069C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5680C>T	1.37:g.27106069C>T	ENSP00000320485:p.Gln1894*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1677*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q740*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q222*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q136*	p.Q1894*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6053	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1894					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5680C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.510754|8.510754	0.98843|0.98843	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.84|4.84	3.85|3.85	0.44370|0.44370	.|.	.|0.407866	.|0.25938	.|N	.|0.027336	T|.	0.41949|.	0.1181|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.09552|.	-1.0669|.	4|.	.|0.10902	.|T	.|0.67	-6.0705|-6.0705	10.413|10.413	0.44305|0.44305	0.289:0.7109:0.0:0.0|0.289:0.7109:0.0:0.0	.|.	.|.	.|.	.|.	L|X	790|1894;1677;1511;222	.|.	.|ENSP00000320485:Q1894X	P|Q	+|+	2|1	0|0	ARID1A|ARID1A	26978656|26978656	0.991000|0.991000	0.36638|0.36638	0.999000|0.999000	0.59377|0.59377	0.682000|0.682000	0.39822|0.39822	1.933000|1.933000	0.40153|0.40153	2.667000|2.667000	0.90743|0.90743	0.491000|0.491000	0.48974|0.48974	CCA|CAG		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		64	68	0	0	0	0.01441	0	64	68				
AP4B1	10717	broad.mit.edu	37	1	114447405	114447405	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:114447405G>C	ENST00000369569.1	-	0	215				DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_De_novo_Start_OutOfFrame|AP4B1_ENST00000369566.3_De_novo_Start_OutOfFrame|AP4B1_ENST00000256658.4_De_novo_Start_OutOfFrame	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		TTCTCGTCCTGATGTGGGAGC	0.577																																							uc001eeb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(-67--63)ATCAG>ATGAG		adaptor-related protein complex 4, beta 1																																						10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114447405G>C	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.-66C>G	1.37:g.114447405G>C						AP4B1_uc001eec.2_Translation_Start_Site|AP4B1_uc001eed.2_Translation_Start_Site|AP4B1_uc010owp.1_Translation_Start_Site|AP4B1_uc010owq.1_Translation_Start_Site|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank		NM_006594	NP_006585	Q9Y6B7	AP4B1_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)	1	78	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)						B7Z4X3|Q59EJ4|Q96CL6	Translation_Start_Site	SNP	ENST00000369569.1	37	c.-65C>G	CCDS865.1																																																																																				0.577	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		7	47	0	0	0	0.02938	0	7	47				
CD1E	913	broad.mit.edu	37	1	158324373	158324373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158324373G>T	ENST00000368167.3	+	2	504	c.265G>T	c.(265-267)Gag>Tag	p.E89*	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Nonsense_Mutation_p.E87*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.E89*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.E89*|CD1E_ENST00000368161.3_Nonsense_Mutation_p.E89*	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	89					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGCAAGCAGGAGCTGAAAAA	0.483																																							uc001fse.2		NA																	0				skin(3)	3						c.(265-267)GAG>TAG		CD1E antigen isoform a precursor							61.0	65.0	64.0					1																	158324373		2086	4257	6343	SO:0001587	stop_gained	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324373G>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.265G>T	1.37:g.158324373G>T	ENSP00000357149:p.Glu89*					CD1E_uc010pid.1_Nonsense_Mutation_p.E87*|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsk.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsj.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Nonsense_Mutation_p.E89*|CD1E_uc001fry.2_Nonsense_Mutation_p.E89*|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Nonsense_Mutation_p.E89*|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Nonsense_Mutation_p.E89*|CD1E_uc009wsw.2_5'Flank	p.E89*	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	504	+	all_hematologic(112;0.0378)		89					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Nonsense_Mutation	SNP	ENST00000368167.3	37	c.265G>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702888	0.48307	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	.	.	.	3.8	0.736	0.18307	.	0.178051	0.27168	N	0.020619	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.2423	5.6555	0.17640	0.1136:0.3573:0.5291:0.0	.	.	.	.	X	87;89;89;89;89;89;89;89	.	ENSP00000357137:E89X	E	+	1	0	CD1E	156590997	0.014000	0.17966	0.004000	0.12327	0.346000	0.29079	0.330000	0.19715	0.171000	0.19730	0.563000	0.77884	GAG		0.483	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		5	37	1	0	1.024e-07	0.014758	1.14726e-07	5	37				
OR10X1	128367	broad.mit.edu	37	1	158549495	158549495	+	Silent	SNP	A	A	C	rs144602754		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:158549495A>C	ENST00000368150.1	-	1	194	c.195T>G	c.(193-195)acT>acG	p.T65T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGTCCACCCAAGTTAGACCCA	0.483																																							uc010pin.1		NA																	0				ovary(1)	1						c.(193-195)ACT>ACG		olfactory receptor, family 10, subfamily X,		A		0,4406		0,0,2203	125.0	120.0	122.0		195	-10.3	0.0	1	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10X1	NM_001004477.1		0,1,6502	CC,CA,AA		0.0116,0.0,0.0077		65/327	158549495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549495A>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.195T>G	1.37:g.158549495A>C							p.T65T	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	195	-	all_hematologic(112;0.0378)		65			Cytoplasmic (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.195T>G	CCDS30900.1																																																																																				0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		6	81	0	0	0	0.021553	0	6	81				
IFI16	3428	broad.mit.edu	37	1	159023414	159023414	+	Missense_Mutation	SNP	A	A	C	rs202009746		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:159023414A>C	ENST00000295809.7	+	11	2432	c.2177A>C	c.(2176-2178)aAc>aCc	p.N726T	IFI16_ENST00000368132.3_Missense_Mutation_p.N670T|IFI16_ENST00000448393.2_Missense_Mutation_p.N614T|IFI16_ENST00000359709.3_Missense_Mutation_p.N670T|IFI16_ENST00000430894.2_Missense_Mutation_p.N674T|IFI16_ENST00000368131.4_Missense_Mutation_p.N670T|IFI16_ENST00000340979.6_Missense_Mutation_p.N614T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	726	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACCACAATCAACTGTGAGGAA	0.413																																							uc001ftg.2		NA																	0				ovary(1)	1						c.(2008-2010)AAC>ACC		interferon, gamma-inducible protein 16		A	THR/ASN,THR/ASN	0,4406		0,0,2203	149.0	141.0	144.0		2009,2009	-0.4	0.0	1		144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IFI16	NM_001206567.1,NM_005531.2	65,65	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	670/730,670/730	159023414	1,13005	2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159023414A>C	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2177A>C	1.37:g.159023414A>C	ENSP00000295809:p.Asn726Thr					IFI16_uc010pis.1_Missense_Mutation_p.N670T|IFI16_uc001fth.2_Missense_Mutation_p.N213T|IFI16_uc010pit.1_Missense_Mutation_p.N269T	p.N670T	NM_005531	NP_005522	Q16666	IF16_HUMAN			10	2299	+	all_hematologic(112;0.0429)		726			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.2009A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.670|7.670	0.686790|0.686790	0.14973|0.14973	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163565|ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|T	0.14766|0.08896	2.48;2.48;2.48;2.48;2.48|3.04	4.82|4.82	-0.453|-0.453	0.12201|0.12201	.|.	.|.	.|.	.|.	.|.	T|T	0.01800|0.01800	0.0057|0.0057	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24651|.	0.108;0.07;0.088|.	B;B;B|.	0.25614|.	0.062;0.015;0.058|.	T|T	0.47114|0.47114	-0.9142|-0.9142	9|6	0.45353|.	T|.	0.12|.	.|.	1.1361|1.1361	0.01755|0.01755	0.4374:0.1607:0.0914:0.3105|0.4374:0.1607:0.0914:0.3105	.|.	674;614;670|.	E7EPR3;Q16666-3;Q16666-2|.	.;.;.|.	T|P	355;726;614;670;670;674|435	ENSP00000295809:N726T;ENSP00000342741:N614T;ENSP00000357113:N670T;ENSP00000357114:N670T;ENSP00000394935:N674T|ENSP00000404325:T435P	ENSP00000295809:N726T|.	N|T	+|+	2|1	0|0	IFI16|IFI16	157290038|157290038	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.176000|0.176000	0.22953|0.22953	0.807000|0.807000	0.27140|0.27140	-0.257000|-0.257000	0.09459|0.09459	0.491000|0.491000	0.48974|0.48974	AAC|ACT		0.413	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		8	141	0	0	0	0.038147	0	8	141				
OR14A16	284532	broad.mit.edu	37	1	247978985	247978985	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:247978985G>C	ENST00000357627.1	-	1	46	c.47C>G	c.(46-48)tCt>tGt	p.S16C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	16						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTATTGGTAGAAAACCCCAT	0.358																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(46-48)TCT>TGT		olfactory receptor, family 14, subfamily A,							58.0	59.0	59.0					1																	247978985		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978985G>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.47C>G	1.37:g.247978985G>C	ENSP00000350248:p.Ser16Cys						p.S16C	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	47	-			16			Extracellular (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.47C>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226158	0.39300	.	.	ENSG00000196772	ENST00000357627	T	0.00015	9.17	3.6	2.68	0.31781	.	0.809286	0.10332	U	0.687414	T	0.00384	0.0012	M	0.92367	3.3	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.41466	-0.9507	10	0.72032	D	0.01	.	6.5798	0.22588	0.0963:0.0:0.7275:0.1762	.	16	Q8NHC5	O14AG_HUMAN	C	16	ENSP00000350248:S16C	ENSP00000350248:S16C	S	-	2	0	OR14A16	246045608	0.000000	0.05858	0.002000	0.10522	0.033000	0.12548	0.128000	0.15810	0.893000	0.36288	0.590000	0.80494	TCT		0.358	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		4	43	0	0	0	0.014758	0	4	43				
OR2T10	127069	broad.mit.edu	37	1	248756568	248756568	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:248756568A>C	ENST00000330500.2	-	1	532	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCTGCAGAAGGGGAAGCTC	0.507																																							uc010pzn.1		NA																	0				skin(1)	1						c.(502-504)TTC>GTC		olfactory receptor, family 2, subfamily T,							101.0	110.0	107.0					1																	248756568		2046	4232	6278	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756568A>C		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.502T>G	1.37:g.248756568A>C	ENSP00000329210:p.Phe168Val						p.F168V	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	502	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		168			Extracellular (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.502T>G	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.071291	0.36566	.	.	ENSG00000184022	ENST00000330500	T	0.00145	8.67	2.16	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	H	0.94658	3.565	0.22317	N	0.999207	D	0.69078	0.997	D	0.65987	0.94	T	0.29882	-0.9997	9	0.72032	D	0.01	.	8.7688	0.34719	1.0:0.0:0.0:0.0	.	168	Q8NGZ9	O2T10_HUMAN	V	168	ENSP00000329210:F168V	ENSP00000329210:F168V	F	-	1	0	OR2T10	246823191	0.876000	0.30132	0.930000	0.37139	0.502000	0.33828	2.478000	0.45189	0.836000	0.34901	0.367000	0.22151	TTC		0.507	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		10	140	0	0	0	0.008291	0	10	140				
PCDH15	65217	broad.mit.edu	37	10	55892725	55892725	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:55892725A>T	ENST00000320301.6	-	15	2221	c.1827T>A	c.(1825-1827)aaT>aaA	p.N609K	PCDH15_ENST00000395432.2_Missense_Mutation_p.N572K|PCDH15_ENST00000395445.1_Missense_Mutation_p.N616K|PCDH15_ENST00000373965.2_Missense_Mutation_p.N616K|PCDH15_ENST00000409834.1_Missense_Mutation_p.N220K|PCDH15_ENST00000373957.3_Missense_Mutation_p.N587K|PCDH15_ENST00000395433.1_Missense_Mutation_p.N587K|PCDH15_ENST00000395438.1_Missense_Mutation_p.N609K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.N609K|PCDH15_ENST00000361849.3_Missense_Mutation_p.N609K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.N609K|PCDH15_ENST00000414778.1_Missense_Mutation_p.N614K|PCDH15_ENST00000395446.1_Missense_Mutation_p.N609K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				GGCTTTGATTATTTGGTGGAA	0.413										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1825-1827)AAT>AAA		protocadherin 15 isoform CD1-4 precursor							129.0	115.0	120.0					10																	55892725		2203	4300	6503	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.chr10:55892725A>T	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	ENST00000320301.6:c.1827T>A	10.37:g.55892725A>T	ENSP00000322604:p.Asn609Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.N614K|PCDH15_uc010qhr.1_Missense_Mutation_p.N609K|PCDH15_uc010qhs.1_Missense_Mutation_p.N621K|PCDH15_uc010qht.1_Missense_Mutation_p.N616K|PCDH15_uc010qhu.1_Missense_Mutation_p.N609K|PCDH15_uc001jjv.1_Missense_Mutation_p.N587K|PCDH15_uc010qhv.1_Missense_Mutation_p.N609K|PCDH15_uc010qhw.1_Missense_Mutation_p.N572K|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.N614K|PCDH15_uc010qhz.1_Missense_Mutation_p.N609K|PCDH15_uc010qia.1_Missense_Mutation_p.N587K|PCDH15_uc010qib.1_Missense_Mutation_p.N587K|PCDH15_uc001jjw.2_Missense_Mutation_p.N609K	p.N609K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			15	2222	-		Melanoma(3;0.117)|Lung SC(717;0.238)	609			Cadherin 5.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1827T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951132	0.73787	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.41	-0.937	0.10415	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.84754	0.5542	H	0.98314	4.2	0.80722	D	1	D;P;B;D;P;D;B;P;B;D;P;D;D;P	0.89917	0.997;0.768;0.402;0.974;0.855;0.997;0.434;0.589;0.402;0.974;0.942;0.966;1.0;0.855	D;P;B;P;P;D;P;P;B;P;P;P;D;P	0.87578	0.995;0.517;0.235;0.841;0.667;0.995;0.473;0.473;0.417;0.878;0.764;0.747;0.998;0.667	D	0.85744	0.1339	9	0.62326	D	0.03	.	11.9452	0.52924	0.4338:0.0:0.5662:0.0	.	587;609;609;614;572;609;609;616;616;609;614;609;587;609	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	616;614;609;609;220;616;609;572;609;587;587;609;609;614;609	ENSP00000363076:N616K;ENSP00000410304:N614K;ENSP00000378826:N609K;ENSP00000386693:N220K;ENSP00000378832:N616K;ENSP00000378833:N609K;ENSP00000378820:N572K;ENSP00000354950:N609K;ENSP00000378821:N587K;ENSP00000363068:N587K;ENSP00000322604:N609K;ENSP00000378818:N609K;ENSP00000363066:N609K	ENSP00000322604:N609K	N	-	3	2	PCDH15	55562731	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	0.761000	0.26489	-0.338000	0.08413	0.482000	0.46254	AAT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	25	0	0	0	0.038147	0	8	25				
TBATA	219793	broad.mit.edu	37	10	72539466	72539466	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr10:72539466C>A	ENST00000299290.1	-	5	699	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	TBATA_ENST00000456372.2_Missense_Mutation_p.D104Y|TBATA_ENST00000545575.1_Missense_Mutation_p.D94Y	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											GCTGGAAAATCCCTGACGACA	0.552																																							uc001jrj.1		NA																	0				skin(1)	1						c.(310-312)GAT>TAT		stromal protein associated with thymii and lymph							72.0	67.0	69.0					10																	72539466		2203	4300	6503	SO:0001583	missense	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72539466C>A	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.310G>T	10.37:g.72539466C>A	ENSP00000299290:p.Asp104Tyr					C10orf27_uc010qjm.1_Missense_Mutation_p.D104Y|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.D104Y|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.D93Y|C10orf27_uc009xqj.1_Silent_p.G98G|C10orf27_uc010qjp.1_Missense_Mutation_p.D93Y	p.D104Y	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			5	700	-			104					A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.310G>T	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642606	0.47153	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T;T;T	0.34275	1.37;1.37;1.37	5.21	5.21	0.72293	.	0.069596	0.53938	D	0.000057	T	0.63082	0.2481	M	0.83012	2.62	0.28686	N	0.904864	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	T	0.63152	-0.6701	10	0.87932	D	0	-29.4769	14.6215	0.68588	0.0:1.0:0.0:0.0	.	93;93;104;104;104	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;Q96M53	.;.;.;.;SPATL_HUMAN	Y	104;91;104;94	ENSP00000299290:D104Y;ENSP00000400224:D104Y;ENSP00000444940:D94Y	ENSP00000299290:D104Y	D	-	1	0	C10orf27	72209472	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.254000	0.43214	2.568000	0.86640	0.655000	0.94253	GAT		0.552	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		6	36	1	0	6.5536e-12	0.038147	7.41108e-12	6	36				
Unknown	0	broad.mit.edu	37	11	5989432	5989432	+	IGR	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:5989432G>T								OR56A3 (19841 upstream) : OR52L1 (17689 downstream)																							GAAGCAGGCAGGGAAGCTGAT	0.527																																							uc010qzu.1		NA																	0					0						c.(292-294)CCT>CAT		olfactory receptor, family 56, subfamily A,							79.0	73.0	75.0					11																	5989432		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989432G>T																													11.37:g.5989432G>T							p.P98H	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	293	-			98			Extracellular (Potential).			Missense_Mutation	SNP		37	c.293C>A																																																																																				0	0.527									4	49	1	0	3.59834e-05	0.021553	3.81929e-05	4	49				
OR4C11	219429	broad.mit.edu	37	11	55371540	55371540	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55371540A>T	ENST00000302231.4	-	1	334	c.310T>A	c.(310-312)Tta>Ata	p.L104I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	104						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(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGCCAAATAAATGTAGTGCA	0.433																																							uc010rii.1		NA																	0				ovary(1)	1						c.(310-312)TTA>ATA		olfactory receptor, family 4, subfamily C,							109.0	92.0	98.0					11																	55371540		2179	4008	6187	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371540A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.310T>A	11.37:g.55371540A>T	ENSP00000306651:p.Leu104Ile						p.L104I	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	310	-			104			Helical; Name=3; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.310T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	4.922	0.171324	0.09391	.	.	ENSG00000172188	ENST00000302231	T	0.01335	5.0	4.34	0.407	0.16371	GPCR, rhodopsin-like superfamily (1);	0.360524	0.19869	N	0.104241	T	0.01124	0.0037	L	0.31578	0.945	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.47071	-0.9145	10	0.52906	T	0.07	.	2.6344	0.04954	0.4743:0.0:0.1911:0.3345	.	104	Q6IEV9	OR4CB_HUMAN	I	104	ENSP00000306651:L104I	ENSP00000306651:L104I	L	-	1	2	OR4C11	55128116	0.000000	0.05858	0.514000	0.27761	0.072000	0.16883	-0.696000	0.05104	-0.028000	0.13850	0.391000	0.25812	TTA		0.433	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		34	336	0	0	0	0.012213	0	34	336				
OR8I2	120586	broad.mit.edu	37	11	55861485	55861485	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:55861485G>A	ENST00000302124.2	+	1	733	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAGGCAGGCAGAAGGCCTTCT	0.468																																							uc010rix.1		NA																	0				breast(1)	1						c.(700-702)CAG>CAA		olfactory receptor, family 8, subfamily I,							152.0	138.0	143.0					11																	55861485		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861485G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.702G>A	11.37:g.55861485G>A							p.Q234Q	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	702	+	Esophageal squamous(21;0.00693)		234			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.702G>A	CCDS31517.1																																																																																				0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		13	101	0	0	0	0.020292	0	13	101				
POLA2	23649	broad.mit.edu	37	11	65064634	65064634	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064634A>C	ENST00000265465.3	+	18	2222	c.1691A>C	c.(1690-1692)aAa>aCa	p.K564T	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	564					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CGCCTTACCAAAGGGCAGGTG	0.617																																							uc001odj.2		NA																	0					0						c.(1690-1692)AAA>ACA		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						85.0	84.0	84.0					11																	65064634		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65064634A>C	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1691A>C	11.37:g.65064634A>C	ENSP00000265465:p.Lys564Thr					POLA2_uc001odk.2_Missense_Mutation_p.K261T	p.K564T	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			18	2033	+			564					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1691A>C	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810053	0.90707	.	.	ENSG00000014138	ENST00000265465	T	0.33438	1.41	5.18	5.18	0.71444	.	0.098075	0.64402	D	0.000002	T	0.54303	0.1850	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.58662	-0.7597	10	0.72032	D	0.01	-10.847	13.6259	0.62163	1.0:0.0:0.0:0.0	.	564	Q14181	DPOA2_HUMAN	T	564	ENSP00000265465:K564T	ENSP00000265465:K564T	K	+	2	0	POLA2	64821210	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.070000	0.89493	2.269000	0.75478	0.533000	0.62120	AAA		0.617	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		32	100	0	0	0	0.012213	0	32	100				
POLA2	23649	broad.mit.edu	37	11	65064645	65064645	+	Missense_Mutation	SNP	G	G	A	rs555607384		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:65064645G>A	ENST00000265465.3	+	18	2233	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	568					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGGCAGGTGGGAGGCACCTT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14535	0.0		0.0	False		,,,				2504	0.0						uc001odj.2		NA																	0					0						c.(1702-1704)GGA>AGA		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						81.0	80.0	80.0					11																	65064645		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65064645G>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1702G>A	11.37:g.65064645G>A	ENSP00000265465:p.Gly568Arg					POLA2_uc001odk.2_Missense_Mutation_p.G265R	p.G568R	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			18	2044	+			568					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1702G>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346672	0.95807	.	.	ENSG00000014138	ENST00000265465	T	0.26223	1.75	5.18	5.18	0.71444	.	0.049857	0.85682	D	0.000000	T	0.56761	0.2007	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62291	-0.6885	10	0.87932	D	0	-20.3216	17.0079	0.86398	0.0:0.0:1.0:0.0	.	568	Q14181	DPOA2_HUMAN	R	568	ENSP00000265465:G568R	ENSP00000265465:G568R	G	+	1	0	POLA2	64821221	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.527000	0.90594	2.813000	0.96785	0.655000	0.94253	GGA		0.617	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		30	88	0	0	0	0.045705	0	30	88				
CCDC87	55231	broad.mit.edu	37	11	66358974	66358974	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:66358974C>T	ENST00000333861.3	-	1	1580	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	505					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGTAAGTGGTCAGAAGAGACA	0.458																																							uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(1513-1515)GAC>AAC		coiled-coil domain containing 87							102.0	103.0	103.0					11																	66358974		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358974C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1513G>A	11.37:g.66358974C>T	ENSP00000328487:p.Asp505Asn					CCS_uc001oir.2_5'Flank	p.D505N	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1581	-			505					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1513G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	3.108	-0.183313	0.06340	.	.	ENSG00000182791	ENST00000333861	T	0.44083	0.93	5.3	-4.17	0.03857	.	1.068410	0.07362	N	0.884244	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.25606	-1.0127	10	0.38643	T	0.18	.	11.9426	0.52909	0.0:0.3478:0.0:0.6522	.	505	Q9NVE4	CCD87_HUMAN	N	505	ENSP00000328487:D505N	ENSP00000328487:D505N	D	-	1	0	CCDC87	66115550	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	-0.641000	0.05434	-1.123000	0.02940	-0.253000	0.11424	GAC		0.458	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		10	145	0	0	0	0.008291	0	10	145				
ATM	472	broad.mit.edu	37	11	108139190	108139190	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:108139190T>G	ENST00000452508.2	+	19	2881	c.2692T>G	c.(2692-2694)Tta>Gta	p.L898V	ATM_ENST00000278616.4_Missense_Mutation_p.L898V|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	898					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCTACTTTTCTTAGACATGCT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(2692-2694)TTA>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							215.0	213.0	213.0					11																	108139190		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108139190T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2692T>G	11.37:g.108139190T>G	ENSP00000388058:p.Leu898Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.L898V|ATM_uc009yxs.1_RNA	p.L898V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	18	3077	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	898					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.2692T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244705	0.59103	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.80824	-1.42;-1.42;-1.42	5.96	3.63	0.41609	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79811	0.4510	M	0.72894	2.215	0.35721	D	0.817167	D	0.59357	0.985	P	0.49665	0.618	T	0.81230	-0.1027	10	0.41790	T	0.15	.	4.599	0.12343	0.0:0.4259:0.0:0.5741	.	898	Q13315	ATM_HUMAN	V	898	ENSP00000435747:L898V;ENSP00000278616:L898V;ENSP00000388058:L898V	ENSP00000278616:L898V	L	+	1	2	ATM	107644400	0.999000	0.42202	0.824000	0.32777	0.809000	0.45718	3.245000	0.51407	1.075000	0.40932	0.533000	0.62120	TTA		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		18	114	0	0	0	0.043863	0	18	114				
VWA5A	4013	broad.mit.edu	37	11	124013245	124013245	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr11:124013245G>T	ENST00000456829.2	+	17	2371	c.2120G>T	c.(2119-2121)aGt>aTt	p.S707I	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.S707I	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	707										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTAGGTATGAGTTTGGAAGAA	0.418																																							uc001pzu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2119-2121)AGT>ATT		BCSC-1 isoform 1							114.0	106.0	109.0					11																	124013245		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124013245G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2120G>T	11.37:g.124013245G>T	ENSP00000407726:p.Ser707Ile					VWA5A_uc001pzt.2_Missense_Mutation_p.S707I	p.S707I	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			17	2329	+			707					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.2120G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544873	0.45280	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04454	3.62;3.62	5.59	0.232	0.15381	.	0.450292	0.27986	N	0.017056	T	0.06917	0.0176	M	0.68593	2.085	0.09310	N	0.999998	P	0.41080	0.737	B	0.42062	0.374	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.9626	7.7601	0.28946	0.473:0.0:0.527:0.0	.	707	O00534	VMA5A_HUMAN	I	707	ENSP00000407726:S707I;ENSP00000376504:S707I	ENSP00000376504:S707I	S	+	2	0	VWA5A	123518455	0.025000	0.19082	0.001000	0.08648	0.062000	0.15995	0.271000	0.18626	0.257000	0.21650	0.561000	0.74099	AGT		0.418	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		5	96	1	0	3.59834e-05	0.021553	3.81929e-05	5	96				
Unknown	0	broad.mit.edu	37	12	9447533	9447533	+	IGR	SNP	G	G	A	rs201361302		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:9447533G>A								SNORA75 (8115 upstream) : RP13-735L24.1 (72526 downstream)																							GGTCCTCGCCGAATACGAGAG	0.627																																							uc010sgq.1		NA																	0					0						c.(523-525)GAA>AAA		SubName: Full=cDNA FLJ60032, highly similar to Probable ATP-dependent RNA helicase DDX11 (EC 3.6.1.-);																																				SO:0001628	intergenic_variant	642846							g.chr12:9447533G>A																													12.37:g.9447533G>A						LOC642846_uc010sgp.1_RNA|LOC642846_uc009zgn.1_Missense_Mutation_p.E25K|LOC642846_uc001qvo.2_Missense_Mutation_p.E25K	p.E175K							5	614	+									Missense_Mutation	SNP		37	c.523G>A																																																																																				0	0.627									2	0	0	0	0	0.004672	0	2	0				
SP1	6667	broad.mit.edu	37	12	53776134	53776134	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:53776134G>C	ENST00000327443.4	+	3	501	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	SP1_ENST00000426431.2_Missense_Mutation_p.E128Q	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	135	Ser/Thr-rich.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATGGCAGTGAGTCTTCCAA	0.542																																							uc001scw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(403-405)GAG>CAG		Sp1 transcription factor isoform a							66.0	65.0	66.0					12																	53776134		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776134G>C	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.403G>C	12.37:g.53776134G>C	ENSP00000329357:p.Glu135Gln					SP1_uc010sog.1_Missense_Mutation_p.E128Q	p.E135Q	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	500	+			135			Ser/Thr-rich.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.403G>C	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	3.395	-0.123543	0.06795	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.07327	3.23;3.2	4.13	4.13	0.48395	.	0.125660	0.35646	N	0.003080	T	0.03651	0.0104	N	0.08118	0	0.29924	N	0.822469	B	0.32893	0.389	B	0.29176	0.099	T	0.31943	-0.9925	10	0.15066	T	0.55	.	9.5169	0.39111	0.0:0.0:0.7898:0.2102	.	135	P08047	SP1_HUMAN	Q	135;128	ENSP00000329357:E135Q;ENSP00000404263:E128Q	ENSP00000329357:E135Q	E	+	1	0	SP1	52062401	0.966000	0.33281	1.000000	0.80357	0.798000	0.45092	2.008000	0.40893	2.306000	0.77630	0.467000	0.42956	GAG		0.542	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			3	50	0	0	0	0.004672	0	3	50				
PPFIA2	8499	broad.mit.edu	37	12	81741325	81741325	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:81741325C>G	ENST00000549396.1	-	18	2379	c.2219G>C	c.(2218-2220)gGa>gCa	p.G740A	PPFIA2_ENST00000333447.7_Missense_Mutation_p.G722A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G666A|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G641A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G722A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G587A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G740A|PPFIA2_ENST00000550584.2_Missense_Mutation_p.G740A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G307A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	740					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCATGACTCCCATCCGATC	0.488																																							uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2218-2220)GGA>GCA		PTPRF interacting protein alpha 2							130.0	130.0	130.0					12																	81741325		1970	4164	6134	SO:0001583	missense	8499							g.chr12:81741325C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2219G>C	12.37:g.81741325C>G	ENSP00000450337:p.Gly740Ala					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.G740A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2380	-			666					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2219G>C	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738805	0.89573	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.22945	2.26;2.26;1.93;1.94;2.26;2.26;1.93;2.27	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.51764	-0.8664	10	0.44086	T	0.13	-31.1764	19.793	0.96468	0.0:1.0:0.0:0.0	.	740	O75334	LIPA2_HUMAN	A	740;722;307;666;751;722;740;641;740	ENSP00000450337:G740A;ENSP00000450298:G722A;ENSP00000438337:G307A;ENSP00000385093:G666A;ENSP00000327416:G722A;ENSP00000449338:G740A;ENSP00000388373:G641A;ENSP00000447868:G740A	ENSP00000327416:G722A	G	-	2	0	PPFIA2	80265456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.741000	0.93983	0.650000	0.86243	GGA		0.488	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	103	0	0	0	0.006214	0	9	103				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																							uc001tuk.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(364-366)GAT>GAG		deltex homolog 1							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			2	702	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	47	0	0	0	0.004672	0	3	47				
ZNF664	144348	broad.mit.edu	37	12	124497263	124497263	+	Missense_Mutation	SNP	G	G	C	rs146116095		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:124497263G>C	ENST00000539644.1	+	6	2402	c.572G>C	c.(571-573)aGa>aCa	p.R191T	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.R191T|ZNF664_ENST00000392404.3_Missense_Mutation_p.R191T|ZNF664_ENST00000538932.2_Missense_Mutation_p.R191T			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ATCCACCAGAGAGTCCACACT	0.512																																							uc001ufz.2		NA																	0					0						c.(571-573)AGA>ACA		zinc finger protein 664							108.0	106.0	106.0					12																	124497263		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497263G>C		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.572G>C	12.37:g.124497263G>C	ENSP00000441405:p.Arg191Thr					ZNF664_uc001uga.2_Missense_Mutation_p.R191T|ZNF664_uc001ugb.2_Missense_Mutation_p.R191T	p.R191T	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2402	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		191			C2H2-type 7.		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.572G>C	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610437	0.87258	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000962	T	0.50786	0.1636	M	0.75777	2.31	0.44402	D	0.997316	D	0.89917	1.0	D	0.87578	0.998	T	0.54906	-0.8223	10	0.87932	D	0	-32.0177	14.9673	0.71204	0.0:0.0:1.0:0.0	.	191	Q8N3J9	ZN664_HUMAN	T	191;191;191;191;129	ENSP00000441405:R191T;ENSP00000376205:R191T;ENSP00000440645:R191T;ENSP00000337320:R191T	ENSP00000337320:R191T	R	+	2	0	ZNF664	123063216	0.998000	0.40836	0.982000	0.44146	0.999000	0.98932	4.524000	0.60552	2.651000	0.90000	0.655000	0.94253	AGA		0.512	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		18	87	0	0	0	0.043863	0	18	87				
EP400	57634	broad.mit.edu	37	12	132508429	132508429	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:132508429A>C	ENST00000333577.4	+	25	5015	c.4906A>C	c.(4906-4908)Acc>Ccc	p.T1636P	EP400_ENST00000330386.6_Missense_Mutation_p.T1519P|EP400_ENST00000389561.2_Missense_Mutation_p.T1600P|EP400_ENST00000332482.4_Missense_Mutation_p.T1563P|EP400_ENST00000389562.2_Missense_Mutation_p.T1599P			Q96L91	EP400_HUMAN	E1A binding protein p400	1636					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCAAGTTCACCCTGTCACA	0.577																																							uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4798-4800)ACC>CCC		E1A binding protein p400							36.0	35.0	35.0					12																	132508429		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132508429A>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4906A>C	12.37:g.132508429A>C	ENSP00000333602:p.Thr1636Pro					EP400_uc001ujl.2_Missense_Mutation_p.T1599P|EP400_uc001ujm.2_Missense_Mutation_p.T1519P	p.T1600P	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	23	4833	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1636					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4798A>C		.	.	.	.	.	.	.	.	.	.	A	13.67	2.306960	0.40795	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.95724	-3.45;-3.42;-3.46;-3.46;-3.79	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.66939	2.045	0.45239	D	0.998241	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96850	0.9624	10	0.41790	T	0.15	.	15.1006	0.72273	1.0:0.0:0.0:0.0	.	1600;1519;1599	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	P	1636;1600;1599;1563;1519;1600;1519	ENSP00000333602:T1636P;ENSP00000374212:T1600P;ENSP00000374213:T1599P;ENSP00000331737:T1563P;ENSP00000330620:T1519P	ENSP00000330620:T1519P	T	+	1	0	EP400	131074382	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.339000	0.96797	1.975000	0.57531	0.533000	0.62120	ACC		0.577	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	26	0	0	0	0.02938	0	4	26				
AKAP6	9472	broad.mit.edu	37	14	33291281	33291281	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:33291281A>T	ENST00000280979.4	+	13	4432	c.4262A>T	c.(4261-4263)aAg>aTg	p.K1421M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1421					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)		GAAAGCATTAAGCTTCCAAAT	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4261-4263)AAG>ATG		A-kinase anchor protein 6							56.0	55.0	56.0					14																	33291281		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291281A>T	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.4262A>T	14.37:g.33291281A>T	ENSP00000280979:p.Lys1421Met						p.K1421M	NM_004274	NP_004265	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	4432	+	Breast(36;0.0388)|Prostate(35;0.15)		1421					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4262A>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776873	0.31411	.	.	ENSG00000151320	ENST00000280979	T	0.06294	3.32	5.6	3.04	0.35103	.	0.680795	0.14493	N	0.316213	T	0.08179	0.0204	L	0.57536	1.79	0.19300	N	0.999978	D	0.57257	0.979	B	0.43155	0.41	T	0.27400	-1.0075	10	0.87932	D	0	-7.3732	6.0912	0.19995	0.6002:0.3141:0.0857:0.0	.	1421	Q13023	AKAP6_HUMAN	M	1421	ENSP00000280979:K1421M	ENSP00000280979:K1421M	K	+	2	0	AKAP6	32361032	0.952000	0.32445	0.865000	0.33974	0.920000	0.55202	1.005000	0.29834	0.918000	0.36919	0.460000	0.39030	AAG		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		12	49	0	0	0	0.016723	0	12	49				
UNC79	57578	broad.mit.edu	37	14	94088785	94088785	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr14:94088785T>C	ENST00000393151.2	+	30	5206	c.5206T>C	c.(5206-5208)Tcc>Ccc	p.S1736P	UNC79_ENST00000553484.1_Missense_Mutation_p.S1758P|UNC79_ENST00000256339.4_Missense_Mutation_p.S1559P|UNC79_ENST00000555664.1_Missense_Mutation_p.S1736P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1736					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCAGAGTTCTCCTGCGGTAG	0.557																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4741-4743)TCC>CCC		hypothetical protein LOC57578							66.0	71.0	70.0					14																	94088785		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088785T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5206T>C	14.37:g.94088785T>C	ENSP00000376858:p.Ser1736Pro					KIAA1409_uc001ybs.1_Missense_Mutation_p.S1559P	p.S1581P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4824	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1736					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4741T>C		.	.	.	.	.	.	.	.	.	.	T	3.299	-0.143307	0.06669	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21031	2.04;2.03;2.04;2.04	4.97	-0.148	0.13424	.	0.440966	0.26492	N	0.024065	T	0.08802	0.0218	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24190	-1.0167	10	0.18710	T	0.47	-2.3729	2.0866	0.03647	0.129:0.1464:0.1344:0.5902	.	1758	C9JQL1	.	P	1559;1736;1758;1736;1758	ENSP00000256339:S1559P;ENSP00000450868:S1736P;ENSP00000451360:S1758P;ENSP00000376858:S1736P	ENSP00000256339:S1559P	S	+	1	0	KIAA1409	93158538	0.000000	0.05858	0.002000	0.10522	0.491000	0.33493	0.031000	0.13710	-0.033000	0.13736	0.254000	0.18369	TCC		0.557	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		20	80	0	0	0	0.010504	0	20	80				
IL32	9235	broad.mit.edu	37	16	3119263	3119263	+	Silent	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:3119263C>G	ENST00000534507.1	+	6	823	c.612C>G	c.(610-612)ctC>ctG	p.L204L	IL32_ENST00000444393.3_Silent_p.L158L|IL32_ENST00000440815.3_Silent_p.L158L|IL32_ENST00000548652.1_Silent_p.L149L|IL32_ENST00000526464.2_Silent_p.L158L|IL32_ENST00000529550.1_Silent_p.L158L|IL32_ENST00000551513.1_Silent_p.L195L|IL32_ENST00000530538.2_Silent_p.L158L|IL32_ENST00000528163.2_Silent_p.L158L|IL32_ENST00000548476.1_Silent_p.L204L|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Silent_p.L138L|IL32_ENST00000533097.2_Silent_p.L158L|IL32_ENST00000529699.1_Silent_p.L138L|IL32_ENST00000548246.1_Silent_p.L118L|IL32_ENST00000396890.2_Silent_p.L204L|IL32_ENST00000396887.3_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000531965.1_Silent_p.L148L|IL32_ENST00000551122.1_Intron|IL32_ENST00000382213.3_Silent_p.L149L|IL32_ENST00000552936.1_Silent_p.L182L|IL32_ENST00000552664.1_Silent_p.L158L|IL32_ENST00000552356.1_Silent_p.L138L|IL32_ENST00000530890.1_Silent_p.L138L|IL32_ENST00000325568.5_Silent_p.L158L|IL32_ENST00000525643.2_Silent_p.L158L			P24001	IL32_HUMAN	interleukin 32	204					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGTCAGAGCTCTTCATGTCCT	0.567																																							uc002cto.2		NA																	0				pancreas(1)	1						c.(610-612)CTC>CTG		interleukin 32 isoform B							98.0	120.0	113.0					16																	3119263		2197	4300	6497	SO:0001819	synonymous_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119263C>G	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.612C>G	16.37:g.3119263C>G						IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L138L|IL32_uc010btb.2_Silent_p.L148L|IL32_uc002ctl.2_Silent_p.L158L|IL32_uc002ctm.2_Silent_p.L158L|IL32_uc002ctn.2_Silent_p.L158L|IL32_uc002cts.3_Silent_p.L158L|IL32_uc002ctp.2_Silent_p.L138L|IL32_uc002ctq.2_Silent_p.L204L|IL32_uc002ctr.2_Silent_p.L138L|IL32_uc002ctt.2_Silent_p.L158L|IL32_uc010uwr.1_Silent_p.L118L|IL32_uc002ctu.2_Silent_p.L149L	p.L204L	NM_004221	NP_004212	P24001	IL32_HUMAN			6	823	+			204					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	ENST00000534507.1	37	c.612C>G																																																																																					0.567	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		63	122	0	0	0	0.01441	0	63	122				
SEC14L5	9717	broad.mit.edu	37	16	5057380	5057380	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:5057380C>T	ENST00000251170.7	+	13	1645	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	489						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGGGCTGGTCCCCAAGTCCCT	0.617																																							uc002cye.2		NA																	0					0						c.(1465-1467)CCC>TCC		SEC14-like 5							45.0	47.0	47.0					16																	5057380		2063	4196	6259	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5057380C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1465C>T	16.37:g.5057380C>T	ENSP00000251170:p.Pro489Ser						p.P489S	NM_014692	NP_055507	O43304	S14L5_HUMAN			13	1645	+			489						Missense_Mutation	SNP	ENST00000251170.7	37	c.1465C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057660	0.76074	.	.	ENSG00000103184	ENST00000251170	T	0.60299	0.2	5.0	5.0	0.66597	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.067873	0.64402	D	0.000015	T	0.80121	0.4565	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83773	0.0221	10	0.87932	D	0	-22.3134	18.492	0.90851	0.0:1.0:0.0:0.0	.	489	O43304	S14L5_HUMAN	S	489	ENSP00000251170:P489S	ENSP00000251170:P489S	P	+	1	0	SEC14L5	4997381	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.236000	0.78154	2.619000	0.88677	0.555000	0.69702	CCC		0.617	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			3	32	0	0	0	0.004672	0	3	32				
CLEC16A	23274	broad.mit.edu	37	16	11272339	11272339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:11272339C>G	ENST00000409790.1	+	24	3184	c.2954C>G	c.(2953-2955)cCt>cGt	p.P985R	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P72R	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCTCGTCCCTGCCCGGCAG	0.637																																							uc002dao.2		NA																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(2953-2955)CCT>CGT		C-type lectin domain family 16, member A							61.0	74.0	70.0					16																	11272339		2157	4252	6409	SO:0001583	missense	23274							g.chr16:11272339C>G	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2954C>G	16.37:g.11272339C>G	ENSP00000387122:p.Pro985Arg					CLEC16A_uc002dap.2_Missense_Mutation_p.P72R	p.P985R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			24	3184	+			985						Missense_Mutation	SNP	ENST00000409790.1	37	c.2954C>G	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.608047	0.66558	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.61510	0.1	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.27053	0.805	0.43390	D	0.995501	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.69491	-0.5131	10	0.87932	D	0	-17.1931	15.032	0.71713	0.0:1.0:0.0:0.0	.	72;985	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	R	985;985;72	ENSP00000387122:P985R	ENSP00000371244:P72R	P	+	2	0	CLEC16A	11179840	1.000000	0.71417	0.212000	0.23672	0.766000	0.43426	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	CCT		0.637	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		8	117	0	0	0	0.004482	0	8	117				
RBBP6	5930	broad.mit.edu	37	16	24580583	24580583	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:24580583G>A	ENST00000319715.4	+	17	3004	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	RBBP6_ENST00000348022.2_Missense_Mutation_p.E824K|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	858					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCAAATAGAGAGAACTTTTC	0.428																																							uc002dmh.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2572-2574)GAG>AAG		retinoblastoma-binding protein 6 isoform 1							50.0	55.0	53.0					16																	24580583		2196	4299	6495	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580583G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2572G>A	16.37:g.24580583G>A	ENSP00000317872:p.Glu858Lys					RBBP6_uc010vcb.1_Missense_Mutation_p.E725K|RBBP6_uc002dmi.2_Missense_Mutation_p.E824K|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.E691K	p.E858K	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3612	+			858					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.2572G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663721	0.88251	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.19532	2.17;2.14	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000016	T	0.24470	0.0593	N	0.19112	0.55	0.42906	D	0.994244	D;P	0.54207	0.965;0.888	P;P	0.50970	0.655;0.453	T	0.01319	-1.1386	10	0.30078	T	0.28	-20.7201	19.8211	0.96595	0.0:0.0:1.0:0.0	.	824;858	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	K	858;824	ENSP00000317872:E858K;ENSP00000316291:E824K	ENSP00000317872:E858K	E	+	1	0	RBBP6	24488084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.654000	0.91092	2.687000	0.91594	0.655000	0.94253	GAG		0.428	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		11	97	0	0	0	0.020292	0	11	97				
KIAA0556	23247	broad.mit.edu	37	16	27640151	27640151	+	Splice_Site	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:27640151G>T	ENST00000261588.4	+	4	329	c.310G>T	c.(310-312)Gat>Tat	p.D104Y		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	104						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGACACACGGTGAGCACAG	0.522																																							uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(310-312)GAT>TAT		hypothetical protein LOC23247							80.0	73.0	76.0					16																	27640151		2197	4300	6497	SO:0001630	splice_region_variant	23247							g.chr16:27640151G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.310+1G>T	16.37:g.27640151G>T							p.D104Y	NM_015202	NP_056017	O60303	K0556_HUMAN			4	334	+			104					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.310G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343555	0.41498	.	.	ENSG00000047578	ENST00000261588	T	0.46063	0.88	5.21	5.21	0.72293	.	0.352858	0.25055	N	0.033484	T	0.57873	0.2083	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.57412	-0.7816	10	0.48119	T	0.1	-5.6807	11.3979	0.49854	0.0:0.0:0.8196:0.1804	.	104	O60303	K0556_HUMAN	Y	104	ENSP00000261588:D104Y	ENSP00000261588:D104Y	D	+	1	0	KIAA0556	27547652	0.995000	0.38212	0.942000	0.38095	0.238000	0.25445	2.474000	0.45154	2.436000	0.82500	0.555000	0.69702	GAT		0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	Missense_Mutation	12	103	1	0	0.000151284	0.016723	0.000157805	12	103				
ZNF423	23090	broad.mit.edu	37	16	49669988	49669988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr16:49669988G>T	ENST00000561648.1	-	4	3128	c.3075C>A	c.(3073-3075)tgC>tgA	p.C1025*	ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C908*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C965*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C1025*|ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C965*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C908*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1025					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTCTGCATGCAGACCACAC	0.602																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3073-3075)TGC>TGA		zinc finger protein 423							85.0	78.0	80.0					16																	49669988		2199	4300	6499	SO:0001587	stop_gained	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669988G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3075C>A	16.37:g.49669988G>T	ENSP00000455426:p.Cys1025*					ZNF423_uc010vgn.1_Nonsense_Mutation_p.C908*	p.C1025*	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3373	-		all_cancers(37;0.0155)	1025			C2H2-type 24.		O94860|Q76N04|Q9NZ13	Nonsense_Mutation	SNP	ENST00000561648.1	37	c.3075C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	44	11.065368	0.99511	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	.	.	.	5.0	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.9007	8.9685	0.35892	0.1703:0.0:0.8297:0.0	.	.	.	.	X	1025;908	.	.	C	-	3	2	ZNF423	48227489	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.825000	0.62708	1.093000	0.41377	0.561000	0.74099	TGC		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		12	25	1	0	1.08611e-07	0.010729	1.19472e-07	12	25				
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:7578392C>T	ENST00000269305.4	-	5	727	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.E180K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGCAGCGCTCATGGTGGGGG	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Deletion - In frame(21)|Substitution - Nonsense(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Missense(6)|Insertion - Frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.E180*(13)|p.P177_C182delPHHERC(8)|p.0?(7)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.E180D(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.E180_S183del(1)|p.V173fs*23(1)|p.E180fs*67(1)|p.V172_E180delVVRRCPHHE(1)|p.E180G(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)	large_intestine(16)|upper_aerodigestive_tract(9)|urinary_tract(6)|breast(6)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|liver(2)|pancreas(2)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941328	TP53	M		c.(538-540)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578392		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578392C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.538G>A	17.37:g.7578392C>T	ENSP00000269305:p.Glu180Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.E180K|TP53_uc002gih.2_Missense_Mutation_p.E180K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E48K|TP53_uc010cng.1_Missense_Mutation_p.E48K|TP53_uc002gii.1_Missense_Mutation_p.E48K|TP53_uc010cnh.1_Missense_Mutation_p.E180K|TP53_uc010cni.1_Missense_Mutation_p.E180K|TP53_uc002gij.2_Missense_Mutation_p.E180K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E87K|TP53_uc002gio.2_Missense_Mutation_p.E48K|TP53_uc010vug.1_Missense_Mutation_p.E141K	p.E180K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	732	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	180		E -> Q (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.538G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704841	0.88924	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	L	0.48935	1.535	0.58432	D	0.999997	D;D;B;D;D;D;D	0.89917	0.985;0.999;0.303;0.997;0.999;1.0;1.0	P;D;B;D;D;D;D	0.87578	0.869;0.986;0.203;0.915;0.992;0.995;0.998	D	0.97925	1.0317	10	0.72032	D	0.01	-40.5855	17.1938	0.86887	0.0:1.0:0.0:0.0	.	141;180;180;87;180;180;180	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	180;180;180;180;180;180;169;87;48;87;48	ENSP00000410739:E180K;ENSP00000352610:E180K;ENSP00000269305:E180K;ENSP00000398846:E180K;ENSP00000391127:E180K;ENSP00000391478:E180K;ENSP00000425104:E48K;ENSP00000423862:E87K	ENSP00000269305:E180K	E	-	1	0	TP53	7519117	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	4.918000	0.63376	2.735000	0.93741	0.563000	0.77884	GAG		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	23	0	0	0	0.012319	0	21	23				
MYH8	4626	broad.mit.edu	37	17	10317241	10317241	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:10317241T>C	ENST00000403437.2	-	12	1219	c.1125A>G	c.(1123-1125)caA>caG	p.Q375Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	375	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGCTCAGCTTGCTCCTCAC	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(1123-1125)CAA>CAG		myosin, heavy chain 8, skeletal muscle,							173.0	165.0	168.0					17																	10317241		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10317241T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1125A>G	17.37:g.10317241T>C						uc002gml.1_Intron	p.Q375Q	NM_002472	NP_002463	P13535	MYH8_HUMAN			12	1220	-			375			Myosin head-like.		Q14910	Silent	SNP	ENST00000403437.2	37	c.1125A>G	CCDS11153.1																																																																																				0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		28	149	0	0	0	0.034045	0	28	149				
KRT14	3861	broad.mit.edu	37	17	39742987	39742987	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:39742987C>T	ENST00000167586.6	-	1	186	c.100G>A	c.(100-102)Gtc>Atc	p.V34I		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	34	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCGGCCAGGACGGAGGAGATG	0.726																																							uc002hxf.1		NA																	0				ovary(1)	1						c.(100-102)GTC>ATC		keratin 14																																				SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742987C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.100G>A	17.37:g.39742987C>T	ENSP00000167586:p.Val34Ile					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.V34I	p.V34I	NM_000526	NP_000517	P02533	K1C14_HUMAN			1	161	-		Breast(137;0.000307)	34			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.100G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807090	0.16467	.	.	ENSG00000186847	ENST00000167586	D	0.82619	-1.63	4.9	1.67	0.24075	.	0.336694	0.21468	N	0.074056	T	0.67373	0.2886	N	0.25647	0.755	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.49771	-0.8904	10	0.20519	T	0.43	.	6.5233	0.22287	0.0:0.6342:0.132:0.2338	.	34	P02533	K1C14_HUMAN	I	34	ENSP00000167586:V34I	ENSP00000167586:V34I	V	-	1	0	KRT14	36996513	0.000000	0.05858	0.623000	0.29173	0.437000	0.31866	0.142000	0.16096	0.562000	0.29204	0.549000	0.68633	GTC		0.726	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	5	0	0	0	0.014758	0	4	5				
NOG	9241	broad.mit.edu	37	17	54672168	54672168	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:54672168C>T	ENST00000332822.4	+	1	1109	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	195					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					TGCAAGCCGTCCAAGTCCGTG	0.667																																							uc002iup.2		NA																	0					0						c.(583-585)TCC>TTC		noggin precursor							32.0	31.0	31.0					17																	54672168		2203	4300	6503	SO:0001583	missense	9241				BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity	g.chr17:54672168C>T	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.584C>T	17.37:g.54672168C>T	ENSP00000328181:p.Ser195Phe						p.S195F	NM_005450	NP_005441	Q13253	NOGG_HUMAN			1	1109	+	Breast(9;5.24e-08)		195						Missense_Mutation	SNP	ENST00000332822.4	37	c.584C>T	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483841	0.63962	.	.	ENSG00000183691	ENST00000332822	D	0.98280	-4.84	4.85	4.85	0.62838	.	0.186986	0.45606	D	0.000352	D	0.96772	0.8946	L	0.52011	1.625	0.48087	D	0.99958	B	0.11235	0.004	B	0.12156	0.007	D	0.94554	0.7756	10	0.62326	D	0.03	-8.1353	18.1718	0.89747	0.0:1.0:0.0:0.0	.	195	Q13253	NOGG_HUMAN	F	195	ENSP00000328181:S195F	ENSP00000328181:S195F	S	+	2	0	NOG	52027167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.536000	0.67180	2.532000	0.85374	0.561000	0.74099	TCC		0.667	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450		4	22	0	0	0	0.014758	0	4	22				
ABCA5	23461	broad.mit.edu	37	17	67280103	67280103	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr17:67280103C>A	ENST00000392676.3	-	18	2447	c.2383G>T	c.(2383-2385)Gac>Tac	p.D795Y	ABCA5_ENST00000588877.1_Missense_Mutation_p.D795Y|ABCA5_ENST00000392677.2_Missense_Mutation_p.D795Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	795					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCTGCTTGGTCAATTTCTGCT	0.313																																							uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2383-2385)GAC>TAC		ATP-binding cassette, sub-family A , member 5							101.0	98.0	99.0					17																	67280103		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67280103C>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2383G>T	17.37:g.67280103C>A	ENSP00000376443:p.Asp795Tyr					ABCA5_uc002jic.2_Missense_Mutation_p.D18Y|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.D795Y|ABCA5_uc002jih.2_Missense_Mutation_p.D795Y|ABCA5_uc010dfe.2_Missense_Mutation_p.D795Y	p.D795Y	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			17	3601	-	Breast(10;3.72e-11)		795					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2383G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043564	0.93685	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.76839	-1.05;-1.05	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.90314	0.6970	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91098	0.4912	9	.	.	.	.	19.1719	0.93581	0.0:1.0:0.0:0.0	.	795;795	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	Y	795	ENSP00000376444:D795Y;ENSP00000376443:D795Y	.	D	-	1	0	ABCA5	64791698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.198000	0.77823	2.622000	0.88805	0.650000	0.86243	GAC		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		10	37	1	0	2.17888e-05	0.006214	2.35397e-05	10	37				
CCDC178	374864	broad.mit.edu	37	18	30926360	30926360	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr18:30926360T>C	ENST00000383096.3	-	9	655	c.473A>G	c.(472-474)gAg>gGg	p.E158G	CCDC178_ENST00000406524.2_Missense_Mutation_p.E158G|CCDC178_ENST00000583930.1_Missense_Mutation_p.E158G|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E158G|CCDC178_ENST00000579947.1_Missense_Mutation_p.E158G|CCDC178_ENST00000300227.8_Missense_Mutation_p.E158G|CCDC178_ENST00000403303.1_Missense_Mutation_p.E158G			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	158																	CTGCTTTAACTCTGGACACTT	0.368																																							uc002kxn.2		NA																	0				ovary(1)	1						c.(472-474)GAG>GGG		hypothetical protein LOC374864 isoform 1							68.0	65.0	66.0					18																	30926360		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926360T>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.473A>G	18.37:g.30926360T>C	ENSP00000372576:p.Glu158Gly					C18orf34_uc010xbr.1_Missense_Mutation_p.E158G|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E158G|C18orf34_uc002kxp.2_Missense_Mutation_p.E158G	p.E158G	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	615	-			158			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.473A>G	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389927	0.25118	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.49720	2.38;2.38;2.37;2.38;2.38;0.77	5.44	4.21	0.49690	.	.	.	.	.	T	0.59169	0.2174	L	0.54323	1.7	0.29862	N	0.8276	D;P;P;P	0.71674	0.998;0.592;0.592;0.592	D;B;B;B	0.71656	0.974;0.314;0.314;0.314	T	0.54132	-0.8339	9	0.40728	T	0.16	-24.2944	8.7746	0.34753	0.0:0.0:0.1909:0.8091	.	158;158;158;158	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	G	158	ENSP00000385591:E158G;ENSP00000372576:E158G;ENSP00000300227:E158G;ENSP00000385867:E158G;ENSP00000385234:E158G;ENSP00000382130:E158G	ENSP00000300227:E158G	E	-	2	0	C18orf34	29180358	.	.	1.000000	0.80357	0.818000	0.46254	.	.	2.069000	0.61940	0.455000	0.32223	GAG		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		3	57	0	0	0	0.009096	0	3	57				
NWD1	284434	broad.mit.edu	37	19	16899898	16899898	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:16899898T>G	ENST00000552788.1	+	11	2837	c.2837T>G	c.(2836-2838)tTt>tGt	p.F946C	NWD1_ENST00000524140.2_Missense_Mutation_p.F946C|NWD1_ENST00000339803.6_Missense_Mutation_p.F811C|NWD1_ENST00000523826.1_Missense_Mutation_p.F740C|NWD1_ENST00000379808.3_Missense_Mutation_p.F946C|NWD1_ENST00000549814.1_Missense_Mutation_p.F946C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	946							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGAGAAATTTACCATTTGG	0.473																																							uc002neu.3		NA																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(2836-2838)TTT>TGT		RecName: Full=NACHT and WD repeat domain-containing protein 1;							102.0	97.0	99.0					19																	16899898		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16899898T>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2837T>G	19.37:g.16899898T>G	ENSP00000447224:p.Phe946Cys					NWD1_uc002net.3_Missense_Mutation_p.F811C|NWD1_uc002nev.3_Missense_Mutation_p.F740C	p.F946C			Q149M9	NWD1_HUMAN			13	3259	+			946			WD 3.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2837T>G		.	.	.	.	.	.	.	.	.	.	T	9.067	0.995842	0.19043	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.39997	1.58;1.05;1.58;3.54;3.54;3.54	5.65	0.798	0.18660	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.505919	0.20385	N	0.093367	T	0.30230	0.0758	L	0.27053	0.805	0.09310	N	1	P;D;P	0.54964	0.913;0.969;0.947	B;P;B	0.50970	0.339;0.655;0.43	T	0.10989	-1.0606	10	0.38643	T	0.18	-6.1094	1.1637	0.01810	0.3856:0.0938:0.1452:0.3755	.	946;946;811	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	C	811;946;946;946;740;946;811	ENSP00000428579:F946C;ENSP00000447548:F946C;ENSP00000369136:F946C;ENSP00000428955:F740C;ENSP00000447224:F946C;ENSP00000340159:F811C	ENSP00000340159:F811C	F	+	2	0	NWD1	16760898	0.416000	0.25424	0.007000	0.13788	0.022000	0.10575	0.395000	0.20850	0.070000	0.16634	-0.468000	0.05107	TTT		0.473	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	43	0	0	0	0.009096	0	4	43				
GRIN2D	2906	broad.mit.edu	37	19	48922564	48922564	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:48922564C>T	ENST00000263269.3	+	8	1897	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	603					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGTTTTCATCTTCGAGTACC	0.607																																							uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(1807-1809)ATC>ATT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						139.0	94.0	109.0					19																	48922564		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922564C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1809C>T	19.37:g.48922564C>T						GRIN2D_uc010elx.2_5'UTR	p.I603I	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	8	1897	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	603			Helical; (Potential).			Silent	SNP	ENST00000263269.3	37	c.1809C>T	CCDS12719.1																																																																																				0.607	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			16	29	0	0	0	0.028581	0	16	29				
FPR1	2357	broad.mit.edu	37	19	52249869	52249869	+	Missense_Mutation	SNP	C	C	T	rs186613919	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:52249869C>T	ENST00000595042.1	-	3	520	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	FPR1_ENST00000304748.4_Missense_Mutation_p.V127I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	127					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.V127I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGATGCAGGACGCAAACACAG	0.557													C|||	5	0.000998403	0.0038	0.0	5008	,	,		21762	0.0		0.0	False		,,,				2504	0.0						uc002pxq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(379-381)GTC>ATC		formyl peptide receptor 1	Nedocromil(DB00716)	C	ILE/VAL,ILE/VAL	2,4404		0,2,2201	98.0	78.0	85.0		379,379	3.7	0.9	19		85	0,8600		0,0,4300	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	127/351,127/351	52249869	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249869C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.379G>A	19.37:g.52249869C>T	ENSP00000471493:p.Val127Ile						p.V127I	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	474	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	127			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.379G>A	CCDS12839.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	14.73	2.623574	0.46840	4.54E-4	0.0	ENSG00000171051	ENST00000304748	T	0.65364	-0.15	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.271283	0.29300	N	0.012550	T	0.70029	0.3177	L	0.46947	1.48	0.34989	D	0.75482	D	0.76494	0.999	D	0.67900	0.954	T	0.76105	-0.3081	10	0.36615	T	0.2	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	127	P21462	FPR1_HUMAN	I	127	ENSP00000302707:V127I	ENSP00000302707:V127I	V	-	1	0	FPR1	56941681	0.998000	0.40836	0.924000	0.36721	0.032000	0.12392	2.666000	0.46799	1.960000	0.56953	0.655000	0.94253	GTC		0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		19	58	0	0	0	0.038395	0	19	58				
ZNF677	342926	broad.mit.edu	37	19	53741643	53741643	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:53741643C>G	ENST00000598513.1	-	5	487	c.337G>C	c.(337-339)Gat>Cat	p.D113H	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.D113H	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTTTTACATCATAGTCCCAC	0.348																																							uc002qbf.1		NA																	0				ovary(1)	1						c.(337-339)GAT>CAT		zinc finger protein 677							123.0	117.0	119.0					19																	53741643		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741643C>G	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.337G>C	19.37:g.53741643C>G	ENSP00000469391:p.Asp113His					ZNF677_uc002qbg.1_Missense_Mutation_p.D113H	p.D113H	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	522	-			113						Missense_Mutation	SNP	ENST00000598513.1	37	c.337G>C	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433360	0.25813	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07908	3.15	2.29	2.29	0.28610	.	0.216114	0.23477	N	0.047745	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	B	0.25667	0.131	B	0.16722	0.016	T	0.39014	-0.9634	10	0.14252	T	0.57	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	113	Q86XU0	ZN677_HUMAN	H	113	ENSP00000334394:D113H	ENSP00000334394:D113H	D	-	1	0	ZNF677	58433455	0.000000	0.05858	0.143000	0.22291	0.072000	0.16883	-0.254000	0.08781	1.592000	0.50018	0.655000	0.94253	GAT		0.348	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		4	103	0	0	0	0.014758	0	4	103				
ZNF547	284306	broad.mit.edu	37	19	57883181	57883181	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr19:57883181A>G	ENST00000282282.3	+	3	206	c.56A>G	c.(55-57)tAt>tGt	p.Y19C	AC003002.4_ENST00000597658.1_Missense_Mutation_p.Y19C	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGCCATATATTTCTCCCAG	0.438																																							uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(55-57)TAT>TGT		zinc finger protein 547							293.0	273.0	280.0					19																	57883181		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883181A>G	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.56A>G	19.37:g.57883181A>G	ENSP00000282282:p.Tyr19Cys					ZNF547_uc010ygx.1_Missense_Mutation_p.Y19C	p.Y19C	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	249	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	19			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.56A>G	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969862	0.34754	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.01871	4.59	2.01	0.963	0.19649	Krueppel-associated box (4);	.	.	.	.	T	0.13628	0.0330	H	0.94658	3.565	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.917	T	0.07693	-1.0759	9	0.51188	T	0.08	.	3.8851	0.09094	0.807:0.0:0.193:0.0	.	19;19	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	C	19	ENSP00000282282:Y19C	ENSP00000282282:Y19C	Y	+	2	0	ZNF547	62574993	0.000000	0.05858	0.185000	0.23176	0.995000	0.86356	0.297000	0.19101	0.222000	0.20900	0.459000	0.35465	TAT		0.438	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		12	212	0	0	0	0.013537	0	12	212				
TGOLN2	10618	broad.mit.edu	37	2	85554445	85554445	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:85554445G>A	ENST00000409232.3	-	2	471	c.410C>T	c.(409-411)aCt>aTt	p.T137I	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Missense_Mutation_p.T137I|TGOLN2_ENST00000377386.3_Missense_Mutation_p.T137I|TGOLN2_ENST00000409015.1_Missense_Mutation_p.T137I|TGOLN2_ENST00000398263.2_Missense_Mutation_p.T137I			O43493	TGON2_HUMAN	trans-golgi network protein 2	137	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CGATTTGCCAGTGCTGTCTTT	0.577																																							uc010fgd.1		NA																	0					0						c.(409-411)ACT>ATT		trans-golgi network protein 2							305.0	306.0	306.0					2																	85554445		1963	4150	6113	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554445G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.410C>T	2.37:g.85554445G>A	ENSP00000386443:p.Thr137Ile					TGOLN2_uc002soz.2_Missense_Mutation_p.T137I|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.T137I|TGOLN2_uc002spc.1_Missense_Mutation_p.T137I	p.T137I	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	699	-			137			Extracellular (Potential).|14 X 14 AA tandem repeats.|6.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.410C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065247	0.36470	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.11712	2.93;2.75;2.94;2.93;2.93	3.38	3.38	0.38709	.	.	.	.	.	T	0.07324	0.0185	N	0.22421	0.69	0.44168	D	0.996975	B;B;B;B	0.33135	0.378;0.378;0.399;0.378	B;B;B;B	0.26094	0.066;0.066;0.048;0.066	T	0.36625	-0.9740	9	0.39692	T	0.17	0.5797	12.6829	0.56932	0.0:0.0:1.0:0.0	.	137;137;137;137	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	I	137	ENSP00000366603:T137I;ENSP00000381312:T137I;ENSP00000386443:T137I;ENSP00000387035:T137I;ENSP00000391190:T137I	ENSP00000366603:T137I	T	-	2	0	TGOLN2	85407956	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.544000	0.23253	1.931000	0.55961	0.391000	0.25812	ACT		0.577	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		17	575	0	0	0	0.028581	0	17	575				
LCT	3938	broad.mit.edu	37	2	136590758	136590758	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:136590758C>T	ENST00000264162.2	-	2	653	c.643G>A	c.(643-645)Gga>Aga	p.G215R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	215	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAGAGTTTTCCGCCTGAAACC	0.532																																							uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(643-645)GGA>AGA		lactase-phlorizin hydrolase preproprotein							113.0	123.0	120.0					2																	136590758		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136590758C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.643G>A	2.37:g.136590758C>T	ENSP00000264162:p.Gly215Arg						p.G215R	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	654	-			215			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.643G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537873	0.45176	.	.	ENSG00000115850	ENST00000264162	T	0.35973	1.28	5.57	4.7	0.59300	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.056774	0.64402	D	0.000001	T	0.50820	0.1638	M	0.82433	2.59	0.38333	D	0.943841	D	0.58268	0.982	P	0.48795	0.59	T	0.65619	-0.6124	10	0.87932	D	0	-9.5126	14.2084	0.65748	0.0:0.8505:0.1495:0.0	.	215	P09848	LPH_HUMAN	R	215	ENSP00000264162:G215R	ENSP00000264162:G215R	G	-	1	0	LCT	136307228	0.958000	0.32768	0.142000	0.22268	0.250000	0.25880	2.348000	0.44045	1.502000	0.48669	0.455000	0.32223	GGA		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		6	104	0	0	0	0.021553	0	6	104				
TTN	7273	broad.mit.edu	37	2	179611703	179611703	+	Intron	SNP	C	C	T	rs559696231	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:179611703C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.G5142S|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TTTGGTGTACCGTCTTCCCTT	0.438													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19552	0.0		0.0	False		,,,				2504	0.001						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15424-15426)GGT>AGT		titin isoform novex-3							132.0	129.0	130.0					2																	179611703		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611703C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5055G>A	2.37:g.179611703C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G5142S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15648	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.15424G>A		.	.	.	.	.	.	.	.	.	.	C	0.148	-1.094698	0.01858	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.39406	1.08	6.06	4.9	0.64082	.	.	.	.	.	T	0.16214	0.0390	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06445	-1.0826	9	0.20519	T	0.43	.	10.8494	0.46761	0.0:0.072:0.0:0.928	.	5142	Q8WZ42-6	.	S	5142;423	ENSP00000354117:G5142S	ENSP00000304714:G423S	G	-	1	0	TTN	179319948	1.000000	0.71417	0.996000	0.52242	0.590000	0.36582	2.389000	0.44407	1.101000	0.41535	-0.294000	0.09567	GGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	119	0	0	0	0.006214	0	10	119				
AGXT	189	broad.mit.edu	37	2	241815373	241815373	+	Silent	SNP	C	C	G	rs180177270		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr2:241815373C>G	ENST00000307503.3	+	8	1185	c.798C>G	c.(796-798)gtC>gtG	p.V266V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	266					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAATCCCCGTCATCAGCCTGT	0.617																																							uc002waa.3		NA																	0					0	GRCh37	CX983844	AGXT	X		c.(796-798)GTC>GTG		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						165.0	115.0	132.0					2																	241815373		2203	4300	6503	SO:0001819	synonymous_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241815373C>G	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.798C>G	2.37:g.241815373C>G						AGXT_uc002wab.3_5'Flank	p.V266V	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	8	919	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	266					Q53QU6	Silent	SNP	ENST00000307503.3	37	c.798C>G	CCDS2543.1																																																																																				0.617	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		7	30	0	0	0	0.006214	0	7	30				
RALY	22913	broad.mit.edu	37	20	32659989	32659989	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659989G>C	ENST00000246194.3	+	3	611	c.109G>C	c.(109-111)Gat>Cat	p.D37H	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.D37H	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	37	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GAAGAAATCAGATGTGGAGAC	0.507																																							uc002xab.2		NA																	0				ovary(1)	1						c.(109-111)GAT>CAT		RNA binding protein (autoantigenic,							125.0	117.0	120.0					20																	32659989		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32659989G>C	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.109G>C	20.37:g.32659989G>C	ENSP00000246194:p.Asp37His					RALY_uc010zui.1_Missense_Mutation_p.D37H|RALY_uc002xac.2_Missense_Mutation_p.D37H|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D37H	p.D37H	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			3	407	+			37			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.109G>C	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046426	0.93740	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000333552;ENST00000442805	T;T;T;T;T;T	0.21361	2.13;2.13;2.13;2.13;2.01;2.13	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.42120	-0.9470	10	0.87932	D	0	-24.3537	19.4672	0.94948	0.0:0.0:1.0:0.0	.	37;37	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	H	37	ENSP00000364255:D37H;ENSP00000413638:D37H;ENSP00000246194:D37H;ENSP00000403744:D37H;ENSP00000327522:D37H;ENSP00000415973:D37H	ENSP00000246194:D37H	D	+	1	0	RALY	32123650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	GAT		0.507	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			5	74	0	0	0	0.014758	0	5	74				
RALY	22913	broad.mit.edu	37	20	32659995	32659995	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32659995G>A	ENST00000246194.3	+	3	617	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.E39K	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	39	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ATCAGATGTGGAGACCATCTT	0.507																																							uc002xab.2		NA																	0				ovary(1)	1						c.(115-117)GAG>AAG		RNA binding protein (autoantigenic,							122.0	114.0	117.0					20																	32659995		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32659995G>A	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.115G>A	20.37:g.32659995G>A	ENSP00000246194:p.Glu39Lys					RALY_uc010zui.1_Missense_Mutation_p.E39K|RALY_uc002xac.2_Missense_Mutation_p.E39K|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.E39K	p.E39K	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			3	413	+			39			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.115G>A	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805399	0.96967	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000333552;ENST00000442805	T;T;T;T;T;T	0.20738	2.52;2.52;2.52;2.52;2.05;2.52	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.28344	0.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.10428	-1.0630	10	0.62326	D	0.03	-35.8532	19.4672	0.94948	0.0:0.0:1.0:0.0	.	39;39	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	K	39	ENSP00000364255:E39K;ENSP00000413638:E39K;ENSP00000246194:E39K;ENSP00000403744:E39K;ENSP00000327522:E39K;ENSP00000415973:E39K	ENSP00000246194:E39K	E	+	1	0	RALY	32123656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	GAG		0.507	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			6	70	0	0	0	0.021553	0	6	70				
EIF2S2	8894	broad.mit.edu	37	20	32684606	32684606	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:32684606C>T	ENST00000374980.2	-	6	761	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	180					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACACTCGATTCAGCAGCTATA	0.403																																							uc002xaf.2		NA																	0				large_intestine(1)	1						c.(538-540)CTG>CTA		eukaryotic translation initiation factor 2 beta							107.0	109.0	109.0					20																	32684606		2203	4300	6503	SO:0001819	synonymous_variant	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32684606C>T	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.540G>A	20.37:g.32684606C>T						EIF2S2_uc002xag.2_Silent_p.L177L|EIF2S2_uc010ges.2_Silent_p.L120L	p.L180L	NM_003908	NP_003899	P20042	IF2B_HUMAN			6	709	-			180					Q9BVU0|Q9UJE4	Silent	SNP	ENST00000374980.2	37	c.540G>A	CCDS13231.1																																																																																				0.403	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		6	183	0	0	0	0.008291	0	6	183				
PTPRT	11122	broad.mit.edu	37	20	40747110	40747110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:40747110C>T	ENST00000373187.1	-	21	2914	c.2915G>A	c.(2914-2916)tGg>tAg	p.W972*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W975*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W971*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W962*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.W991*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W981*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W962*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	972	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATCATTCTCCAAAAGTCCTT	0.547																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(2914-2916)TGG>TAG		protein tyrosine phosphatase, receptor type, T							94.0	90.0	91.0					20																	40747110		1978	4184	6162	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40747110C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2915G>A	20.37:g.40747110C>T	ENSP00000362283:p.Trp972*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.W991*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.W175*	p.W972*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			21	3099	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	972			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.2915G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	43	10.405493	0.99399	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2449	0.93898	0.0:1.0:0.0:0.0	.	.	.	.	X	971;972;975;981;994;962;962	.	ENSP00000348408:W981X	W	-	2	0	PTPRT	40180524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.763000	0.85283	2.560000	0.86352	0.561000	0.74099	TGG		0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			5	98	0	0	0	0.021553	0	5	98				
PIGT	51604	broad.mit.edu	37	20	44052918	44052918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44052918C>T	ENST00000279036.6	+	10	1377	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	PIGT_ENST00000341555.5_Nonsense_Mutation_p.Q239*|PIGT_ENST00000545755.1_Nonsense_Mutation_p.Q171*|PIGT_ENST00000372689.5_Nonsense_Mutation_p.Q366*|PIGT_ENST00000543458.2_Nonsense_Mutation_p.Q377*|PIGT_ENST00000535404.1_Nonsense_Mutation_p.Q278*|PIGT_ENST00000279035.9_Nonsense_Mutation_p.Q331*	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	433					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GATGCTGATTCAGCTGCCGGC	0.572																																							uc002xoh.1		NA																	0				pancreas(1)	1						c.(1297-1299)CAG>TAG		phosphatidylinositol glycan anchor biosynthesis,							76.0	70.0	72.0					20																	44052918		2203	4300	6503	SO:0001587	stop_gained	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44052918C>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1297C>T	20.37:g.44052918C>T	ENSP00000279036:p.Gln433*					PIGT_uc010ghf.1_Nonsense_Mutation_p.Q386*|PIGT_uc002xoj.1_Nonsense_Mutation_p.Q366*|PIGT_uc002xok.1_Nonsense_Mutation_p.Q398*|PIGT_uc010zwu.1_Nonsense_Mutation_p.Q171*|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Nonsense_Mutation_p.Q171*|PIGT_uc010zww.1_Nonsense_Mutation_p.Q377*|PIGT_uc010zwx.1_Nonsense_Mutation_p.Q268*|PIGT_uc010zwy.1_Nonsense_Mutation_p.Q331*|PIGT_uc010zwz.1_Nonsense_Mutation_p.Q171*|PIGT_uc010zxa.1_Nonsense_Mutation_p.Q271*|PIGT_uc002xol.1_Nonsense_Mutation_p.Q222*|PIGT_uc010zxb.1_Nonsense_Mutation_p.Q109*|PIGT_uc002xom.1_Nonsense_Mutation_p.Q25*	p.Q433*	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			10	1370	+		Myeloproliferative disorder(115;0.0122)	433			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Nonsense_Mutation	SNP	ENST00000279036.6	37	c.1297C>T	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	41	8.860552	0.98980	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-31.1074	19.211	0.93755	0.0:1.0:0.0:0.0	.	.	.	.	X	377;366;331;433;171;239;278	.	ENSP00000279035:Q331X	Q	+	1	0	PIGT	43486332	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.789000	0.95967	0.655000	0.94253	CAG		0.572	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		5	70	0	0	0	0.014758	0	5	70				
PIGT	51604	broad.mit.edu	37	20	44053148	44053148	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr20:44053148C>T	ENST00000279036.6	+	11	1493	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	PIGT_ENST00000341555.5_Silent_p.L277L|PIGT_ENST00000545755.1_Silent_p.L209L|PIGT_ENST00000372689.5_Silent_p.L404L|PIGT_ENST00000543458.2_Silent_p.L415L|PIGT_ENST00000535404.1_Silent_p.L316L|PIGT_ENST00000279035.9_Silent_p.L369L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	471					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CATCTGTCCTCAGCGCCCTTG	0.567																																							uc002xoh.1		NA																	0				pancreas(1)	1						c.(1411-1413)CTC>CTT		phosphatidylinositol glycan anchor biosynthesis,							96.0	89.0	92.0					20																	44053148		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44053148C>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1413C>T	20.37:g.44053148C>T						PIGT_uc002xoj.1_Silent_p.L404L|PIGT_uc002xok.1_Silent_p.L436L|PIGT_uc010zwu.1_Silent_p.L209L|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.L209L|PIGT_uc010zww.1_Silent_p.L415L|PIGT_uc010zwx.1_Silent_p.L306L|PIGT_uc010zwy.1_Silent_p.L369L|PIGT_uc010zwz.1_Silent_p.L209L|PIGT_uc010zxa.1_Silent_p.L309L|PIGT_uc002xol.1_Silent_p.L260L|PIGT_uc010zxb.1_Silent_p.L147L|PIGT_uc002xom.1_Silent_p.L63L	p.L471L	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			11	1486	+		Myeloproliferative disorder(115;0.0122)	471			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.1413C>T	CCDS13353.1																																																																																				0.567	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		9	63	0	0	0	0.006214	0	9	63				
TTC3	7267	broad.mit.edu	37	21	38533142	38533142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr21:38533142G>T	ENST00000399017.2	+	30	5825	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.K1026N|TTC3_ENST00000354749.2_Missense_Mutation_p.K1026N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1026	Arg/Lys-rich (basic).|Poly-Lys.				negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCAAGAAAAAGAAGCCAAAGG	0.318																																					Ovarian(38;194 1649 35661)	Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(3076-3078)AAG>AAT		tetratricopeptide repeat domain 3							125.0	122.0	123.0					21																	38533142		2203	4298	6501	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38533142G>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3078G>T	21.37:g.38533142G>T	ENSP00000381981:p.Lys1026Asn					TTC3_uc011aee.1_Missense_Mutation_p.K716N|TTC3_uc002ywa.2_Missense_Mutation_p.K1026N|TTC3_uc002ywb.2_Missense_Mutation_p.K1026N|TTC3_uc010gnf.2_Missense_Mutation_p.K791N|TTC3_uc002ywc.2_Missense_Mutation_p.K716N|TTC3_uc002ywd.1_Missense_Mutation_p.K90N	p.K1026N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			30	3183	+		Myeloproliferative disorder(46;0.0412)	1026			Arg/Lys-rich (basic).|Poly-Lys.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3078G>T	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.49|17.49	3.402905|3.402905	0.62288|0.62288	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.21932|.	1.98;1.99;2.19;2.19;2.19|.	5.06|5.06	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.56097|.	D|.	0.000026|.	T|T	0.65091|0.65091	0.2658|0.2658	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.85130|.	0.997;0.994|.	T|T	0.64145|0.64145	-0.6476|-0.6476	10|5	0.87932|.	D|.	0|.	-20.6479|-20.6479	11.1282|11.1282	0.48330|0.48330	0.0892:0.0:0.9108:0.0|0.0892:0.0:0.9108:0.0	.|.	84;1026|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	N|I	1026;1008;1026;1026;1026|182	ENSP00000403943:K1026N;ENSP00000391891:K1008N;ENSP00000347889:K1026N;ENSP00000381981:K1026N;ENSP00000346791:K1026N|.	ENSP00000346791:K1026N|.	K|R	+|+	3|2	2|0	TTC3|TTC3	37455012|37455012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.745000|2.745000	0.47459|0.47459	1.236000|1.236000	0.43740|0.43740	0.491000|0.491000	0.48974|0.48974	AAG|AGA		0.318	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	47	1	0	1.06961e-07	0.038147	1.18737e-07	7	47				
UFD1L	7353	broad.mit.edu	37	22	19455447	19455447	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:19455447T>C	ENST00000263202.10	-	5	500	c.371A>G	c.(370-372)aAa>aGa	p.K124R	UFD1L_ENST00000399523.1_Missense_Mutation_p.K124R|UFD1L_ENST00000360834.4_Missense_Mutation_p.K113R|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	124					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					AGGTTGGAATTTGGAGTAGGT	0.498																																							uc002zpm.2		NA																	0					0						c.(370-372)AAA>AGA		ubiquitin fusion degradation 1-like isoform A							144.0	142.0	143.0					22																	19455447		2203	4300	6503	SO:0001583	missense	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19455447T>C	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.371A>G	22.37:g.19455447T>C	ENSP00000263202:p.Lys124Arg					UFD1L_uc002zpo.2_Missense_Mutation_p.K124R|UFD1L_uc011agy.1_Missense_Mutation_p.K124R|UFD1L_uc002zpp.2_Missense_Mutation_p.K77R|UFD1L_uc010grq.2_Missense_Mutation_p.K77R	p.K124R	NM_005659	NP_005650	Q92890	UFD1_HUMAN			5	501	-	Colorectal(54;0.0993)		124					A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	c.371A>G	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.922383	0.73213	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.77	4.77	0.60923	.	0.041576	0.85682	D	0.000000	T	0.54447	0.1859	L	0.37750	1.13	0.80722	D	1	B;B;B	0.21071	0.051;0.012;0.012	B;B;B	0.42138	0.377;0.178;0.175	T	0.54173	-0.8333	10	0.35671	T	0.21	-22.7545	14.7575	0.69576	0.0:0.0:0.0:1.0	.	124;124;124	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	R	124;113;124;160;28;113;119;60	ENSP00000263202:K124R;ENSP00000354079:K113R;ENSP00000382439:K124R;ENSP00000402136:K28R;ENSP00000406680:K113R;ENSP00000418390:K119R;ENSP00000418295:K60R	ENSP00000263202:K124R	K	-	2	0	UFD1L	17835447	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.507000	0.81676	2.133000	0.65898	0.454000	0.30748	AAA		0.498	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6			8	110	0	0	0	0.006214	0	8	110				
NEFH	4744	broad.mit.edu	37	22	29879474	29879474	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr22:29879474C>G	ENST00000310624.6	+	2	1027	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	332	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GACCACAGAGCTGGAGGCACT	0.622																																							uc003afo.2		NA																	0					0						c.(994-996)CTG>GTG		neurofilament, heavy polypeptide 200kDa							111.0	92.0	99.0					22																	29879474		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29879474C>G		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.994C>G	22.37:g.29879474C>G	ENSP00000311997:p.Leu332Val						p.L332V	NM_021076	NP_066554	P12036	NFH_HUMAN			2	1065	+			332			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.994C>G	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793932	0.50102	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.92595	-3.07	5.3	3.21	0.36854	Filament (1);	0.000000	0.38164	N	0.001781	D	0.94889	0.8348	M	0.74258	2.255	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	D	0.93501	0.6844	10	0.41790	T	0.15	.	11.3654	0.49668	0.0:0.8643:0.0:0.1357	.	332	P12036	NFH_HUMAN	V	332	ENSP00000311997:L332V	ENSP00000311997:L332V	L	+	1	2	NEFH	28209474	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.082000	0.41605	0.793000	0.33875	0.650000	0.86243	CTG		0.622	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		21	71	0	0	0	0.010504	0	21	71				
FANCD2	2177	broad.mit.edu	37	3	10103867	10103867	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:10103867C>G	ENST00000419585.1	+	20	1960	c.1799C>G	c.(1798-1800)gCc>gGc	p.A600G	FANCD2_ENST00000287647.3_Missense_Mutation_p.A600G|FANCD2_ENST00000383807.1_Missense_Mutation_p.A600G|FANCD2_ENST00000383806.1_Missense_Mutation_p.A600G			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	600					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAAGAGAGAGCCAACCTGAGC	0.353			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1798-1800)GCC>GGC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							62.0	66.0	65.0					3																	10103867		2203	4300	6503	SO:0001583	missense	2177	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10103867C>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1799C>G	3.37:g.10103867C>G	ENSP00000398754:p.Ala600Gly					FANCD2_uc003bux.1_Missense_Mutation_p.A600G|FANCD2_uc003buy.1_Missense_Mutation_p.A600G|FANCD2_uc010hcw.1_RNA	p.A600G	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	20	1877	+			600					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1799C>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	6.674	0.493003	0.12702	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.01	-3.6	0.04570	.	1.167030	0.05791	N	0.610342	T	0.20210	0.0486	N	0.04203	-0.255	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.13407	0.003;0.009	T	0.13548	-1.0505	10	0.20519	T	0.43	.	3.765	0.08619	0.3543:0.1947:0.3715:0.0795	.	600;600	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	G	600	ENSP00000287647:A600G;ENSP00000373318:A600G;ENSP00000373317:A600G;ENSP00000398754:A600G	ENSP00000287647:A600G	A	+	2	0	FANCD2	10078867	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.073000	0.11468	-0.448000	0.07128	-0.194000	0.12790	GCC		0.353	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			8	21	0	0	0	0.008291	0	8	21				
SNRK	54861	broad.mit.edu	37	3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:43389775C>T	ENST00000296088.7	+	7	2328	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F|SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK-AS1_ENST00000422681.1_RNA|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498																																							uc003cms.3		NA																	0				ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.(2023-2025)TCC>TTC		SNF related kinase							58.0	61.0	60.0					3																	43389775		1871	4105	5976	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389775C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.2024C>T	3.37:g.43389775C>T	ENSP00000296088:p.Ser675Phe					SNRK_uc003cmt.3_Missense_Mutation_p.S675F|SNRK_uc010hik.2_Missense_Mutation_p.S675F|SNRK_uc011azr.1_Missense_Mutation_p.S469F	p.S675F	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	2356	+			675						Missense_Mutation	SNP	ENST00000296088.7	37	c.2024C>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.551042	0.13374	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.67171	-0.25;-0.25;-0.25;2.64	5.26	3.42	0.39159	.	0.258781	0.38381	N	0.001706	T	0.60958	0.2309	L	0.54323	1.7	0.40330	D	0.978916	B	0.29085	0.232	B	0.27170	0.077	T	0.62402	-0.6862	10	0.87932	D	0	.	12.3261	0.55011	0.1347:0.7359:0.1294:0.0	.	675	Q9NRH2	SNRK_HUMAN	F	675;675;675;469	ENSP00000401246:S675F;ENSP00000411375:S675F;ENSP00000296088:S675F;ENSP00000409516:S469F	ENSP00000296088:S675F	S	+	2	0	SNRK	43364779	1.000000	0.71417	0.391000	0.26233	0.082000	0.17680	5.063000	0.64332	0.685000	0.31468	-0.176000	0.13171	TCC		0.498	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		10	48	0	0	0	0.010504	0	10	48				
NPHP3	27031	broad.mit.edu	37	3	132434047	132434047	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:132434047G>A	ENST00000337331.5	-	5	925	c.839C>T	c.(838-840)gCt>gTt	p.A280V	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Missense_Mutation_p.A280V	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	280					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTAGCTACAGCAATATCCCA	0.333																																							uc003epe.1		NA																	0				ovary(1)	1						c.(838-840)GCT>GTT		nephrocystin 3							69.0	71.0	70.0					3																	132434047		2203	4298	6501	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132434047G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.839C>T	3.37:g.132434047G>A	ENSP00000338766:p.Ala280Val					NPHP3_uc003epf.1_Missense_Mutation_p.A35V	p.A280V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			5	916	-			280					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.839C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495690	0.96355	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.94280	-3.39;-3.36	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95795	0.8828	10	0.59425	D	0.04	-22.168	20.8794	0.99867	0.0:0.0:1.0:0.0	.	280	Q7Z494	NPHP3_HUMAN	V	280	ENSP00000319909:A280V;ENSP00000338766:A280V	ENSP00000319909:A280V	A	-	2	0	NPHP3	133916737	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.565000	0.98154	2.941000	0.99782	0.655000	0.94253	GCT		0.333	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		5	65	0	0	0	0.014758	0	5	65				
HPS3	84343	broad.mit.edu	37	3	148858052	148858052	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr3:148858052G>C	ENST00000296051.2	+	2	619	c.479G>C	c.(478-480)aGt>aCt	p.S160T	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	160					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCTTATTTAGTTTGAAGTAC	0.378									Hermansky-Pudlak syndrome																														uc003ewu.1		NA																	0				ovary(5)|large_intestine(1)	6						c.(478-480)AGT>ACT		Hermansky-Pudlak syndrome 3 protein							118.0	118.0	118.0					3																	148858052		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148858052G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.479G>C	3.37:g.148858052G>C	ENSP00000296051:p.Ser160Thr					HPS3_uc003ewt.1_Missense_Mutation_p.S160T|HPS3_uc011bnq.1_Intron	p.S160T	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	619	+			160					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.479G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053062	0.01965	.	.	ENSG00000163755	ENST00000296051	T	0.62639	0.01	5.37	2.33	0.28932	.	0.256492	0.42682	N	0.000676	T	0.38904	0.1058	N	0.17082	0.46	0.58432	D	0.999997	B	0.09022	0.002	B	0.13407	0.009	T	0.29027	-1.0025	10	0.02654	T	1	-8.3797	11.5564	0.50750	0.0697:0.5276:0.4027:0.0	.	160	Q969F9	HPS3_HUMAN	T	160	ENSP00000296051:S160T	ENSP00000296051:S160T	S	+	2	0	HPS3	150340742	1.000000	0.71417	0.484000	0.27391	0.222000	0.24845	1.727000	0.38095	0.178000	0.19917	-0.196000	0.12772	AGT		0.378	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		42	47	0	0	0	0.042209	0	42	47				
GPR125	166647	broad.mit.edu	37	4	22394281	22394281	+	Silent	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:22394281G>A	ENST00000334304.5	-	17	2783	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	838					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATAGTACTGTGGCAAGGGTGG	0.388																																							uc003gqm.1		NA																	0				skin(1)	1						c.(2512-2514)GCC>GCT		G protein-coupled receptor 125 precursor							177.0	159.0	165.0					4																	22394281		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22394281G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2514C>T	4.37:g.22394281G>A						GPR125_uc010ieo.1_Silent_p.A694A|GPR125_uc003gql.1_5'UTR	p.A838A	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			17	2779	-		Breast(46;0.198)	838			Helical; Name=3; (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2514C>T	CCDS33964.1																																																																																				0.388	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	81	0	0	0	0.014758	0	4	81				
DCAF4L1	285429	broad.mit.edu	37	4	41984513	41984513	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:41984513C>T	ENST00000333141.5	+	1	801	c.704C>T	c.(703-705)aCg>aTg	p.T235M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	235										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TTTGCTAGTACGGCTCCTTTG	0.562																																							uc003gwk.2		NA																	0				skin(1)	1						c.(703-705)ACG>ATG		WD repeat domain 21B							157.0	152.0	154.0					4																	41984513		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984513C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.704C>T	4.37:g.41984513C>T	ENSP00000327796:p.Thr235Met						p.T235M	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	801	+			235					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.704C>T	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	2.953	-0.216376	0.06101	.	.	ENSG00000182308	ENST00000333141	T	0.19806	2.12	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.054160	0.07227	N	0.861930	T	0.07188	0.0182	N	0.03324	-0.35	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.34601	-0.9822	10	0.20519	T	0.43	.	2.3984	0.04395	0.3222:0.354:0.3237:0.0	.	235	Q3SXM0	DC4L1_HUMAN	M	235	ENSP00000327796:T235M	ENSP00000327796:T235M	T	+	2	0	DCAF4L1	41679270	0.979000	0.34478	0.020000	0.16555	0.031000	0.12232	1.332000	0.33805	-0.381000	0.07882	0.313000	0.20887	ACG		0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		24	149	0	0	0	0.027356	0	24	149				
UNC5C	8633	broad.mit.edu	37	4	96166259	96166259	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:96166259A>G	ENST00000453304.1	-	6	1160	c.812T>C	c.(811-813)gTg>gCg	p.V271A	UNC5C_ENST00000506749.1_Missense_Mutation_p.V271A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	271	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTGTTACACACAGACCACTC	0.527																																							uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(811-813)GTG>GCG		unc5C precursor							81.0	70.0	74.0					4																	96166259		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96166259A>G	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.812T>C	4.37:g.96166259A>G	ENSP00000406022:p.Val271Ala					UNC5C_uc010ilc.1_Missense_Mutation_p.V271A|UNC5C_uc003htq.2_Missense_Mutation_p.V271A	p.V271A	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	6	966	-		Hepatocellular(203;0.114)	271			Extracellular (Potential).|TSP type-1 1.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.812T>C	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	3.997	-0.003268	0.07773	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.49139	0.79;0.79;0.79	5.44	4.26	0.50523	.	0.261705	0.37577	N	0.002023	T	0.18341	0.0440	N	0.02674	-0.535	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.07927	-1.0747	10	0.07644	T	0.81	.	8.3888	0.32516	0.8513:0.0:0.1487:0.0	.	271;271;271	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	A	271;230;271;271	ENSP00000406022:V271A;ENSP00000426924:V271A;ENSP00000426153:V271A	ENSP00000328673:V230A	V	-	2	0	UNC5C	96385282	0.717000	0.27966	0.996000	0.52242	0.993000	0.82548	2.504000	0.45416	1.089000	0.41292	0.533000	0.62120	GTG		0.527	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		3	44	0	0	0	0.004672	0	3	44				
PCDH10	57575	broad.mit.edu	37	4	134084247	134084247	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:134084247C>A	ENST00000264360.5	+	4	3739	c.2913C>A	c.(2911-2913)agC>agA	p.S971R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	971					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTATCGCAGCAATCTGCATG	0.537																																							uc003iha.2		NA																	0				ovary(2)	2						c.(2911-2913)AGC>AGA		protocadherin 10 isoform 1 precursor							149.0	128.0	135.0					4																	134084247		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084247C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2913C>A	4.37:g.134084247C>A	ENSP00000264360:p.Ser971Arg						p.S971R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3739	+			971			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2913C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740444	0.69304	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55413	0.52	5.24	4.4	0.53042	.	0.000000	0.47455	D	0.000240	T	0.50752	0.1634	N	0.12502	0.225	0.58432	D	0.99999	D	0.71674	0.998	D	0.75484	0.986	T	0.53613	-0.8414	10	0.48119	T	0.1	.	8.4801	0.33038	0.0:0.7645:0.0:0.2355	.	971	Q9P2E7	PCD10_HUMAN	R	971	ENSP00000264360:S971R	ENSP00000264360:S971R	S	+	3	2	PCDH10	134303697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.005000	0.49521	1.426000	0.47256	0.650000	0.86243	AGC		0.537	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		25	73	1	0	0.000375601	0.016522	0.000388442	25	73				
CLDN22	53842	broad.mit.edu	37	4	184241270	184241270	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr4:184241270C>G	ENST00000323319.5	-	1	657	c.102G>C	c.(100-102)aaG>aaC	p.K34N	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	34					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTTGAGGTTCTTCCAGTGTG	0.443																																							uc010isa.1		NA																	0					0						c.(100-102)AAG>AAC		claudin 22							135.0	122.0	126.0					4																	184241270		1568	3582	5150	SO:0001583	missense	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184241270C>G	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.102G>C	4.37:g.184241270C>G	ENSP00000318113:p.Lys34Asn					WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	p.K34N	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	658	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	34			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000323319.5	37	c.102G>C	CCDS43286.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769532	0.69992	.	.	ENSG00000177300	ENST00000323319	D	0.89415	-2.51	6.13	0.724	0.18236	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	H	0.96398	3.815	0.47476	D	0.99943	D	0.89917	1.0	D	0.97110	1.0	D	0.96124	0.9087	10	0.87932	D	0	.	15.5648	0.76281	0.0:0.7811:0.0:0.2189	.	34	Q8N7P3	CLD22_HUMAN	N	34	ENSP00000318113:K34N	ENSP00000318113:K34N	K	-	3	2	CLDN22	184478264	0.954000	0.32549	0.994000	0.49952	0.994000	0.84299	0.156000	0.16382	-0.138000	0.11434	0.650000	0.86243	AAG		0.443	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			7	122	0	0	0	0.02938	0	7	122				
PCDHA12	56137	broad.mit.edu	37	5	140257099	140257099	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:140257099G>A	ENST00000398631.2	+	1	2042	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	681					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)			ACGTCGTCGCGGGCCTCAGTG	0.652																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(2041-2043)CGG>CAG		protocadherin alpha 12 isoform 1 precursor							38.0	42.0	41.0					5																	140257099		2202	4300	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257099G>A	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.2042G>A	5.37:g.140257099G>A	ENSP00000381628:p.Arg681Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R681Q	p.R681Q	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2169	+			681			Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2042G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372334	0.42003	.	.	ENSG00000251664	ENST00000398631	T	0.50548	0.74	4.8	0.633	0.17712	.	.	.	.	.	T	0.33440	0.0863	L	0.48642	1.525	0.09310	N	1	B;B	0.31413	0.322;0.109	B;B	0.21708	0.036;0.011	T	0.13548	-1.0505	9	0.23302	T	0.38	.	7.4239	0.27088	0.1504:0.4054:0.4442:0.0	.	681;681	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Q	681	ENSP00000381628:R681Q	ENSP00000381628:R681Q	R	+	2	0	PCDHA12	140237283	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-1.103000	0.03329	0.050000	0.15949	0.655000	0.94253	CGG		0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		3	47	0	0	0	0.009096	0	3	47				
TBC1D9B	23061	broad.mit.edu	37	5	179292299	179292299	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr5:179292299T>C	ENST00000356834.3	-	21	3064	c.3027A>G	c.(3025-3027)aaA>aaG	p.K1009K	TBC1D9B_ENST00000519746.1_Silent_p.K168K|TBC1D9B_ENST00000355235.3_Silent_p.K992K|TBC1D9B_ENST00000444477.2_Silent_p.K150K|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1009						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTCTTTCTCCTTGG	0.507																																							uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(3025-3027)AAA>AAG		TBC1 domain family, member 9B (with GRAM domain)							145.0	142.0	143.0					5																	179292299		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179292299T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3027A>G	5.37:g.179292299T>C						TBC1D9B_uc003mli.2_Silent_p.K992K|TBC1D9B_uc003mlj.2_Silent_p.K991K|TBC1D9B_uc003mlf.2_Silent_p.K83K|TBC1D9B_uc003mlg.2_Silent_p.K168K|TBC1D9B_uc011dgv.1_Silent_p.K168K	p.K1009K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		21	3064	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	1009					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.3027A>G	CCDS43408.1																																																																																				0.507	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		14	92	0	0	0	0.016723	0	14	92				
F13A1	2162	broad.mit.edu	37	6	6145903	6145903	+	Silent	SNP	T	T	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:6145903T>C	ENST00000264870.3	-	15	2413	c.2148A>G	c.(2146-2148)agA>agG	p.R716R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	716					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CATACACATGTCTCAGGGAGT	0.552																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(2146-2148)AGA>AGG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						143.0	126.0	132.0					6																	6145903		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6145903T>C	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.2148A>G	6.37:g.6145903T>C						F13A1_uc011dib.1_3'UTR	p.R716R	NM_000129	NP_000120	P00488	F13A_HUMAN			15	2271	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	716					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.2148A>G	CCDS4496.1																																																																																				0.552	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		13	69	0	0	0	0.020292	0	13	69				
TBC1D7	51256	broad.mit.edu	37	6	13306666	13306666	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:13306666C>T	ENST00000379300.3	-	7	1002	c.759G>A	c.(757-759)ctG>ctA	p.L253L	TBC1D7_ENST00000343141.4_Silent_p.L207L|TBC1D7_ENST00000379307.2_Silent_p.L226L|TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000356436.4_Silent_p.L253L|TBC1D7_ENST00000607532.1_5'Flank	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	253					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCACTGTTCAGTGCCATAA	0.338																																							uc003naj.2		NA																	0				ovary(1)	1						c.(757-759)CTG>CTA		TBC1 domain family, member 7 isoform a							72.0	75.0	74.0					6																	13306666		2202	4297	6499	SO:0001819	synonymous_variant	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13306666C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.759G>A	6.37:g.13306666C>T						TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Silent_p.L253L|TBC1D7_uc003nal.2_Silent_p.L253L|TBC1D7_uc003nam.2_Silent_p.L253L|TBC1D7_uc003nao.2_Silent_p.L226L|TBC1D7_uc010jpd.2_Silent_p.L207L|TBC1D7_uc003nap.2_3'UTR	p.L253L	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		7	850	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	253					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	c.759G>A	CCDS4523.1																																																																																				0.338	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		4	45	0	0	0	0.009096	0	4	45				
BRD2	6046	broad.mit.edu	37	6	32944128	32944128	+	Missense_Mutation	SNP	C	C	T	rs176250	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:32944128C>T	ENST00000374825.4	+	6	2413	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	BRD2_ENST00000395289.2_Missense_Mutation_p.L238F|BRD2_ENST00000443797.2_Missense_Mutation_p.L118F|BRD2_ENST00000449085.2_Missense_Mutation_p.L191F|BRD2_ENST00000395287.1_Missense_Mutation_p.L238F|BRD2_ENST00000374831.4_Missense_Mutation_p.L238F	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	238			L -> F (in dbSNP:rs176250). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:17344846}.		chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						TACCACTGTCCTCAACATTCC	0.567													C|||	6	0.00119808	0.0	0.0029	5008	,	,		19809	0.001		0.002	False		,,,				2504	0.001						uc003ocn.3		NA																	0				central_nervous_system(3)|stomach(2)	5						c.(712-714)CTC>TTC		bromodomain containing 2		C	PHE/LEU,PHE/LEU,PHE/LEU,PHE/LEU	3,3019		0,3,1508	143.0	124.0	130.0		712,712,571,712	5.3	1.0	6	dbSNP_79	130	37,5381		0,37,2672	yes	missense,missense,missense,missense	BRD2	NM_001113182.2,NM_001199455.1,NM_001199456.1,NM_005104.3	22,22,22,22	0,40,4180	TT,TC,CC		0.6829,0.0993,0.4739	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	238/802,238/837,191/755,238/802	32944128	40,8400	1511	2709	4220	SO:0001583	missense	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944128C>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.712C>T	6.37:g.32944128C>T	ENSP00000363958:p.Leu238Phe					BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.L238F|BRD2_uc003ocp.3_Missense_Mutation_p.L118F|BRD2_uc010juh.2_Missense_Mutation_p.L238F	p.L238F	NM_005104	NP_005095	P25440	BRD2_HUMAN			6	2413	+			238					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	c.712C>T	CCDS4762.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	1	0.0013192612137203166	C	14.62	2.589205	0.46110	9.93E-4	0.006829	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.08370	3.31;3.31;3.3;3.1;3.3;3.27	5.33	5.33	0.75918	.	0.000000	0.44902	D	0.000403	T	0.05090	0.0136	L	0.33710	1.025	0.80722	D	1	P;P	0.47841	0.901;0.813	P;P	0.48063	0.565;0.565	T	0.47328	-0.9126	10	0.10902	T	0.67	-14.8547	16.9005	0.86112	0.0:1.0:0.0:0.0	rs176250;rs176625;rs651751;rs6457693;rs17855884;rs52819514;rs176250	238;238	A2AAU0;P25440	.;BRD2_HUMAN	F	238;238;238;118;238;191	ENSP00000363958:L238F;ENSP00000363964:L238F;ENSP00000378704:L238F;ENSP00000413495:L118F;ENSP00000378702:L238F;ENSP00000409145:L191F	ENSP00000363958:L238F	L	+	1	0	BRD2	33052106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.709000	0.47160	2.932000	0.99384	0.643000	0.83706	CTC		0.567	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			5	100	0	0	0	0.02938	0	5	100				
TMEM200A	114801	broad.mit.edu	37	6	130762216	130762216	+	Missense_Mutation	SNP	C	C	T	rs267600805		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:130762216C>T	ENST00000296978.3	+	3	1520	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R217W|TMEM200A_ENST00000392429.1_Missense_Mutation_p.R217W	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	217						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCGGGTTTTCGGAGCAGTTT	0.478																																							uc003qca.2		NA																	0				ovary(1)	1						c.(649-651)CGG>TGG		transmembrane protein 200A							58.0	57.0	57.0					6																	130762216		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762216C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.649C>T	6.37:g.130762216C>T	ENSP00000296978:p.Arg217Trp					TMEM200A_uc010kfh.2_Missense_Mutation_p.R217W|TMEM200A_uc010kfi.2_Missense_Mutation_p.R217W|TMEM200A_uc003qcb.2_Missense_Mutation_p.R217W	p.R217W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1520	+			217			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.649C>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298614	0.23650	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.7	-2.34	0.06704	.	0.513188	0.21597	N	0.072017	T	0.11153	0.0272	L	0.54323	1.7	0.21984	N	0.999439	P	0.46578	0.88	B	0.32805	0.153	T	0.26677	-1.0096	9	0.66056	D	0.02	-13.1903	10.1249	0.42643	0.3749:0.4887:0.1364:0.0	.	217	Q86VY9	T200A_HUMAN	W	217	.	ENSP00000296978:R217W	R	+	1	2	TMEM200A	130803909	0.869000	0.29996	0.004000	0.12327	0.481000	0.33189	1.173000	0.31920	-0.315000	0.08703	0.655000	0.94253	CGG		0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		11	37	0	0	0	0.010729	0	11	37				
GPR126	57211	broad.mit.edu	37	6	142732479	142732479	+	Silent	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr6:142732479A>T	ENST00000230173.6	+	18	2948	c.2472A>T	c.(2470-2472)gcA>gcT	p.A824A	GPR126_ENST00000367609.3_Silent_p.A824A|GPR126_ENST00000367608.2_Silent_p.A796A|GPR126_ENST00000296932.8_Silent_p.A796A	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	824	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GATGTGTTGCACACAGAGATT	0.428																																							uc010khc.2		NA																	0				ovary(1)	1						c.(2470-2472)GCA>GCT		G protein-coupled receptor 126 alpha 1							215.0	203.0	207.0					6																	142732479		1948	4157	6105	SO:0001819	synonymous_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142732479A>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2472A>T	6.37:g.142732479A>T						GPR126_uc010khd.2_Silent_p.A796A|GPR126_uc010khe.2_Silent_p.A824A|GPR126_uc010khf.2_Silent_p.A796A	p.A824A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	18	2883	+	Breast(32;0.176)		824			GPS.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.2472A>T	CCDS47490.1																																																																																				0.428	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			19	126	0	0	0	0.010504	0	19	126				
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> M (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity; more sensitive to gefitinib than wild-type; dbSNP:rs121434568). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATTTTGGGCTGGCCAAACTG	0.537	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	L858R(NCIH1975_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1491	Substitution - Missense(1491)	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)	lung(1475)|upper_aerodigestive_tract(5)|thyroid(4)|large_intestine(2)|peritoneum(1)|stomach(1)|thymus(1)|breast(1)|ovary(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2572-2574)CTG>CGG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105.0	98.0	101.0					7																	55259515		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259515T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2573T>G	7.37:g.55259515T>G	ENSP00000275493:p.Leu858Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	p.L858R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2819	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		858		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2573T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601026	0.87055	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.91351	-2.83;-2.83;-2.83	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137592	0.50627	D	0.000117	D	0.96340	0.8806	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.956;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	14.8112	0.69996	0.0:0.0:0.0:1.0	.	813;858	Q504U8;P00533	.;EGFR_HUMAN	R	813;728;858;805	ENSP00000415559:L813R;ENSP00000275493:L858R;ENSP00000395243:L805R	ENSP00000275493:L858R	L	+	2	0	EGFR	55227009	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.890000	0.87313	2.176000	0.68965	0.528000	0.53228	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		36	75	0	0	0	0.025465	0	36	75				
NCAPG2	54892	broad.mit.edu	37	7	158447365	158447365	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr7:158447365C>G	ENST00000409423.1	-	23	2840	c.2668G>C	c.(2668-2670)Gat>Cat	p.D890H	NCAPG2_ENST00000409339.3_Missense_Mutation_p.D890H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D890H|NCAPG2_ENST00000449727.2_Missense_Mutation_p.D890H|NCAPG2_ENST00000541468.1_Missense_Mutation_p.D391H|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D682H	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	890					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATAACAACATCTTTACACACA	0.438																																							uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2668-2670)GAT>CAT		leucine zipper protein 5							145.0	137.0	140.0					7																	158447365		1945	4149	6094	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158447365C>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2668G>C	7.37:g.158447365C>G	ENSP00000386569:p.Asp890His					NCAPG2_uc010lqu.1_Missense_Mutation_p.D682H|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D890H|NCAPG2_uc011kwe.1_Missense_Mutation_p.D890H|NCAPG2_uc011kwc.1_Missense_Mutation_p.D391H|NCAPG2_uc011kwd.1_Missense_Mutation_p.D333H	p.D890H	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	22	2813	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	890					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2668G>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.50|16.50	3.139647|3.139647	0.56936|0.56936	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|T	0.50001|0.34275	0.76;0.84;0.84;0.88;0.82;0.82|1.37	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.043973|.	0.85682|.	D|.	0.000000|.	T|T	0.57286|0.57286	0.2043|0.2043	M|M	0.66939|0.66939	2.045|2.045	0.53688|0.53688	D|D	0.999977|0.999977	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.998;0.994|.	T|T	0.53436|0.53436	-0.8439|-0.8439	10|7	0.87932|0.49607	D|T	0|0.09	-30.1288|-30.1288	20.0205|20.0205	0.97499|0.97499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	890;333;682;890|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	H|N	391;890;890;682;890;333;890|691	ENSP00000442337:D391H;ENSP00000348657:D890H;ENSP00000386569:D890H;ENSP00000275830:D682H;ENSP00000387007:D890H;ENSP00000388326:D890H|ENSP00000408080:K691N	ENSP00000275830:D682H|ENSP00000408080:K691N	D|K	-|-	1|3	0|2	NCAPG2|NCAPG2	158140126|158140126	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.121000|0.121000	0.20230|0.20230	5.902000|5.902000	0.69869|0.69869	2.740000|2.740000	0.93945|0.93945	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.438	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		18	104	0	0	0	0.038395	0	18	104				
HR	55806	broad.mit.edu	37	8	21977361	21977361	+	Silent	SNP	G	G	A	rs144482432	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:21977361G>A	ENST00000381418.4	-	14	4369	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C	HR_ENST00000312841.8_Silent_p.C963C	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	963	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CATGGAGGGCGCAGTACTCCG	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13260	0.0		0.0	False		,,,				2504	0.0						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2887-2889)TGC>TGT		hairless protein isoform a		G	,	10,4396	16.8+/-37.8	0,10,2193	75.0	75.0	75.0		2889,2889	-4.4	0.2	8	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HR	NM_005144.4,NM_018411.4	,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,	963/1190,963/1135	21977361	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21977361G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2889C>T	8.37:g.21977361G>A						HR_uc003xat.2_Silent_p.C963C	p.C963C	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	14	3554	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	963			JmjC.		Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.2889C>T	CCDS6022.1																																																																																				0.637	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			3	45	0	0	0	0.014758	0	3	45				
HOOK3	84376	broad.mit.edu	37	8	42828457	42828457	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:42828457C>G	ENST00000307602.4	+	12	1348	c.1148C>G	c.(1147-1149)tCc>tGc	p.S383C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	383					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AACAGATTATCCGAAGAATCA	0.294			T	RET	papillary thyroid																																		uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(1147-1149)TCC>TGC		golgi-associated microtubule-binding protein							55.0	60.0	58.0					8																	42828457		2202	4296	6498	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42828457C>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1148C>G	8.37:g.42828457C>G	ENSP00000305699:p.Ser383Cys					HOOK3_uc010lxq.1_Missense_Mutation_p.S383C	p.S383C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		12	1390	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	383			Potential.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1148C>G	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530275	0.85706	.	.	ENSG00000168172	ENST00000307602	T	0.20738	2.05	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.32455	-0.9906	10	0.52906	T	0.07	-9.6901	19.6374	0.95740	0.0:1.0:0.0:0.0	.	383	Q86VS8	HOOK3_HUMAN	C	383	ENSP00000305699:S383C	ENSP00000305699:S383C	S	+	2	0	HOOK3	42947614	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.319000	0.79040	2.711000	0.92665	0.563000	0.77884	TCC		0.294	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		8	51	0	0	0	0.004482	0	8	51				
RB1CC1	9821	broad.mit.edu	37	8	53588991	53588991	+	Silent	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:53588991C>T	ENST00000025008.5	-	6	1033	c.510G>A	c.(508-510)aaG>aaA	p.K170K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.K170K|RB1CC1_ENST00000435644.2_Silent_p.K170K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	170					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TACTTTCAAACTTGAAAAGTA	0.343																																					GBM(180;1701 2102 13475 42023 52570)	GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NA																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(508-510)AAG>AAA		Rb1-inducible coiled coil protein 1 isoform 1							80.0	81.0	81.0					8																	53588991		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53588991C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.510G>A	8.37:g.53588991C>T						RB1CC1_uc003xrf.3_Silent_p.K170K	p.K170K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			6	1068	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	170					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.510G>A	CCDS34892.1																																																																																				0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		6	43	0	0	0	0.02938	0	6	43				
EYA1	2138	broad.mit.edu	37	8	72267066	72267066	+	Silent	SNP	G	G	A	rs185389264		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:72267066G>A	ENST00000340726.3	-	3	714	c.75C>T	c.(73-75)ctC>ctT	p.L25L	EYA1_ENST00000419131.1_Silent_p.L25L|EYA1_ENST00000303824.7_Silent_p.L25L|EYA1_ENST00000388743.2_Silent_p.L25L|EYA1_ENST00000388742.4_Silent_p.L25L|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388741.2_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	25					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAGAGTTACCGAGTTTGGGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18808	0.001		0.0	False		,,,				2504	0.0						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(73-75)CTC>CTT		eyes absent 1 isoform b							161.0	166.0	164.0					8																	72267066		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72267066G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.75C>T	8.37:g.72267066G>A						EYA1_uc003xyr.3_Silent_p.L25L|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Silent_p.L25L|EYA1_uc011lfe.1_Silent_p.L25L|EYA1_uc003xyv.2_5'UTR	p.L25L	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		2	362	-	Breast(64;0.046)		25					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.75C>T	CCDS34906.1																																																																																				0.463	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		28	134	0	0	0	0.027356	0	28	134				
UBR5	51366	broad.mit.edu	37	8	103287796	103287796	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:103287796C>T	ENST00000520539.1	-	47	7288	c.6682G>A	c.(6682-6684)Gaa>Aaa	p.E2228K	UBR5_ENST00000518205.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.E2222K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2228K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2228					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTTCCATTTCTCTGCGGAAT	0.313																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(6682-6684)GAA>AAA		ubiquitin protein ligase E3 component n-recognin							96.0	96.0	96.0					8																	103287796		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103287796C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6682G>A	8.37:g.103287796C>T	ENSP00000429084:p.Glu2228Lys					UBR5_uc003yks.1_Missense_Mutation_p.E2228K	p.E2228K	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		47	6715	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2228					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6682G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371403	0.82573	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922;ENST00000521566	T;T;T	0.42131	0.98;0.98;0.98	5.57	5.57	0.84162	HECT (1);	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	L	0.34521	1.04	0.58432	D	0.999999	P;P	0.35551	0.509;0.509	B;B	0.36567	0.228;0.163	T	0.29882	-0.9997	10	0.59425	D	0.04	.	19.5522	0.95324	0.0:1.0:0.0:0.0	.	2222;2228	E7EMW7;O95071	.;UBR5_HUMAN	K	2228;2228;2222;53	ENSP00000429084:E2228K;ENSP00000220959:E2228K;ENSP00000427819:E2222K	ENSP00000220959:E2228K	E	-	1	0	UBR5	103356972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.639000	0.89480	0.650000	0.86243	GAA		0.313	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		7	32	0	0	0	0.038147	0	7	32				
RORB	6096	broad.mit.edu	37	9	77277459	77277459	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:77277459G>C	ENST00000396204.2	+	6	862	c.862G>C	c.(862-864)Gca>Cca	p.A288P	RORB_ENST00000376896.3_Missense_Mutation_p.A277P			Q92753	RORB_HUMAN	RAR-related orphan receptor B	288	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGTGGAGTTTGCAAAGCGGAT	0.448																																							uc004aji.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(862-864)GCA>CCA		RAR-related orphan receptor B							177.0	163.0	168.0					9																	77277459		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77277459G>C	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.862G>C	9.37:g.77277459G>C	ENSP00000379507:p.Ala288Pro					RORB_uc004ajh.2_Missense_Mutation_p.A277P	p.A288P	NM_006914	NP_008845	Q92753	RORB_HUMAN			6	911	+			288			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.862G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.116972	0.94385	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97480	-4.4;-4.4	5.47	5.47	0.80525	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	19.3378	0.94326	0.0:0.0:1.0:0.0	.	288;277	Q92753;Q58EY0	RORB_HUMAN;.	P	277;288	ENSP00000366093:A277P;ENSP00000379507:A288P	ENSP00000366093:A277P	A	+	1	0	RORB	76467279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.567000	0.86603	0.557000	0.71058	GCA		0.448	RORB-201	KNOWN	basic	protein_coding	protein_coding				22	75	0	0	0	0.014323	0	22	75				
TSTD2	158427	broad.mit.edu	37	9	100388080	100388080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:100388080G>C	ENST00000341170.4	-	3	747	c.365C>G	c.(364-366)tCa>tGa	p.S122*	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	122										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAGACTCTTTGAGGTGCTCAA	0.433																																							uc004axn.2		NA																	0				ovary(2)	2						c.(364-366)TCA>TGA		thiosulfate sulfurtransferase (rhodanese)-like							161.0	158.0	159.0					9																	100388080		2203	4300	6503	SO:0001587	stop_gained	158427							g.chr9:100388080G>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.365C>G	9.37:g.100388080G>C	ENSP00000342499:p.Ser122*					TSTD2_uc004axo.2_5'UTR|TSTD2_uc004axp.1_5'UTR	p.S122*	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN			3	853	-			122					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	ENST00000341170.4	37	c.365C>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	40	8.505057	0.98841	.	.	ENSG00000136925	ENST00000341170	.	.	.	4.82	2.94	0.34122	.	0.741572	0.12633	N	0.451984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.1986	8.8297	0.35076	0.0815:0.0:0.7678:0.1507	.	.	.	.	X	122	.	ENSP00000342499:S122X	S	-	2	0	TSTD2	99427901	0.788000	0.28762	0.150000	0.22450	0.561000	0.35649	1.420000	0.34804	0.684000	0.31448	0.655000	0.94253	TCA		0.433	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		6	102	0	0	0	0.02938	0	6	102				
TGFBR1	7046	broad.mit.edu	37	9	101900299	101900299	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:101900299G>A	ENST00000374994.4	+	4	850	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TGFBR1_ENST00000552516.1_Missense_Mutation_p.E249K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E176K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E168K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTGGTTCCGTGAGGCAGAGAT	0.413																																							uc004azc.2		NA																	0				lung(2)|ovary(1)	3						c.(733-735)GAG>AAG		transforming growth factor, beta receptor I							162.0	158.0	159.0					9																	101900299		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900299G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.733G>A	9.37:g.101900299G>A	ENSP00000364133:p.Glu245Lys					TGFBR1_uc004azd.2_Missense_Mutation_p.E168K|TGFBR1_uc011lvc.1_Missense_Mutation_p.E176K	p.E245K	NM_004612	NP_004603	P36897	TGFR1_HUMAN			4	809	+		Acute lymphoblastic leukemia(62;0.0559)	245			Protein kinase.|Cytoplasmic (Potential).		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.733G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.739804	0.96873	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79;-4.79	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99160	1.0861	9	.	.	.	.	18.3707	0.90406	0.0:0.0:1.0:0.0	.	168;245	P36897-3;P36897	.;TGFR1_HUMAN	K	245;245;168;249;99;176	ENSP00000364133:E245K;ENSP00000364129:E168K;ENSP00000447297:E249K;ENSP00000449028:E99K;ENSP00000450052:E176K	.	E	+	1	0	TGFBR1	100940120	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.810000	0.99221	2.642000	0.89623	0.650000	0.86243	GAG		0.413	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			13	58	0	0	0	0.013537	0	13	58				
FAM206A	54942	broad.mit.edu	37	9	111701692	111701692	+	Silent	SNP	G	G	A	rs545011416		TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr9:111701692G>A	ENST00000322940.6	+	5	672	c.366G>A	c.(364-366)gtG>gtA	p.V122V	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	122						nucleus (GO:0005634)											TGATGGAAGTGAATGAAAACA	0.274													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.0						uc004bdn.2		NA																	0				pancreas(1)	1						c.(364-366)GTG>GTA		hypothetical protein LOC54942							45.0	47.0	46.0					9																	111701692		2202	4300	6502	SO:0001819	synonymous_variant	54942				glycine catabolic process	glycine cleavage complex		g.chr9:111701692G>A	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.366G>A	9.37:g.111701692G>A						C9orf6_uc010mtr.2_RNA	p.V122V	NM_017832	NP_060302	Q9NX38	CI006_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)	5	460	+		Myeloproliferative disorder(63;0.0511)	122					Q5JTR0|Q5JTR1	Silent	SNP	ENST00000322940.6	37	c.366G>A	CCDS6774.1																																																																																				0.274	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053582.1	NM_017832		3	19	0	0	0	0.004672	0	3	19				
MSL3	10943	broad.mit.edu	37	X	11778598	11778598	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:11778598A>C	ENST00000312196.4	+	3	367	c.262A>C	c.(262-264)Aga>Cga	p.R88R	MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000337339.2_Silent_p.R88R|MSL3_ENST00000398527.2_Silent_p.R76R	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	88	Chromo.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TAAATTGGCAAGAAAAGCTGT	0.328																																							uc004cuw.2		NA																	0				ovary(1)	1						c.(262-264)AGA>CGA		male-specific lethal 3-like 1 isoform a							70.0	63.0	66.0					X																	11778598		2203	4300	6503	SO:0001819	synonymous_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11778598A>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.262A>C	X.37:g.11778598A>C						MSL3_uc004cuv.1_Silent_p.R88R|MSL3_uc004cux.2_Silent_p.R29R|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Silent_p.R76R|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	p.R88R	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			3	367	+			88			Chromo.		A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	ENST00000312196.4	37	c.262A>C	CCDS14147.1																																																																																				0.328	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		6	117	0	0	0	0.021553	0	6	117				
GPR64	10149	broad.mit.edu	37	X	19051731	19051731	+	Splice_Site	SNP	C	C	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:19051731C>T	ENST00000379869.3	-	8	467	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GPR64_ENST00000357991.3_Splice_Site_p.G99S|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000379878.3_Splice_Site_p.G86S|GPR64_ENST00000360279.4_Intron|GPR64_ENST00000357544.3_Intron|GPR64_ENST00000354791.3_Splice_Site_p.G86S|GPR64_ENST00000379873.2_Splice_Site_p.G102S|GPR64_ENST00000356606.4_Intron|GPR64_ENST00000379876.1_Splice_Site_p.G78S	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	102					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAGTCATACCTGATGCATTG	0.239																																							uc004cyx.2		NA																	0					0						c.(304-306)GGC>AGC		G protein-coupled receptor 64 isoform 1							37.0	39.0	38.0					X																	19051731		2190	4288	6478	SO:0001630	splice_region_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19051731C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.304+1G>A	X.37:g.19051731C>T						GPR64_uc004cyy.2_Missense_Mutation_p.G99S|GPR64_uc004cyz.2_Intron|GPR64_uc004czb.2_Missense_Mutation_p.G102S|GPR64_uc004czc.2_Missense_Mutation_p.G86S|GPR64_uc004czd.2_Missense_Mutation_p.G78S|GPR64_uc004cze.2_Intron|GPR64_uc004czf.2_Intron|GPR64_uc004cza.2_Intron|GPR64_uc004cyw.2_Missense_Mutation_p.G86S|GPR64_uc010nfj.2_Intron	p.G102S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			8	468	-	Hepatocellular(33;0.183)		102			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.304G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142059	0.77775	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000379869;ENST00000357991	T;T;T;T;T;T	0.55760	0.5;0.57;0.57;0.66;0.65;0.65	4.83	4.83	0.62350	.	0.137625	0.32802	N	0.005630	T	0.52565	0.1742	L	0.29908	0.895	0.31948	N	0.610092	P;P;P;P;P;P	0.50943	0.94;0.94;0.94;0.94;0.9;0.9	P;P;P;P;P;P	0.55713	0.782;0.782;0.782;0.782;0.611;0.611	T	0.58160	-0.7685	9	.	.	.	.	12.1914	0.54273	0.0:1.0:0.0:0.0	.	78;86;102;99;102;86	Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;GPR64_HUMAN;.	S	102;86;86;78;102;99	ENSP00000369202:G102S;ENSP00000369207:G86S;ENSP00000346845:G86S;ENSP00000369205:G78S;ENSP00000369198:G102S;ENSP00000350680:G99S	.	G	-	1	0	GPR64	18961652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.303000	0.51858	2.366000	0.80165	0.506000	0.49869	GGC		0.239	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		Missense_Mutation	15	45	0	0	0	0.0333	0	15	45				
PTCHD1	139411	broad.mit.edu	37	X	23411590	23411590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:23411590A>C	ENST00000379361.4	+	3	2815	c.1955A>C	c.(1954-1956)aAg>aCg	p.K652T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	652					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGGTGGCCAAGACCATGGAA	0.428																																							uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(1954-1956)AAG>ACG		patched domain containing 1							68.0	65.0	66.0					X																	23411590		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411590A>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1955A>C	X.37:g.23411590A>C	ENSP00000368666:p.Lys652Thr						p.K652T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	1963	+			652					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1955A>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	15.27	2.785081	0.49997	.	.	ENSG00000165186	ENST00000379361	D	0.85013	-1.93	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	L	0.58810	1.83	0.47584	D	0.999466	B	0.32862	0.387	B	0.40982	0.345	T	0.78907	-0.2019	10	0.22706	T	0.39	.	9.1717	0.37086	0.9178:0.0:0.0822:0.0	.	652	Q96NR3	PTHD1_HUMAN	T	652	ENSP00000368666:K652T	ENSP00000368666:K652T	K	+	2	0	PTCHD1	23321511	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.957000	0.93082	1.816000	0.52996	0.486000	0.48141	AAG		0.428	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		6	135	0	0	0	0.021553	0	6	135				
GPR34	2857	broad.mit.edu	37	X	41555242	41555242	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:41555242A>G	ENST00000378142.4	+	3	640	c.356A>G	c.(355-357)aAg>aGg	p.K119R	CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.K119R|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	119					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCAAAACAAGTGGACACTA	0.378																																							uc004dfp.3		NA																	0				ovary(1)	1						c.(355-357)AAG>AGG		G protein-coupled receptor 34							169.0	155.0	160.0					X																	41555242		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555242A>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.356A>G	X.37:g.41555242A>G	ENSP00000367384:p.Lys119Arg					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.K119R|GPR34_uc010nhg.2_Missense_Mutation_p.K119R|GPR34_uc004dfr.3_Missense_Mutation_p.K119R	p.K119R	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	640	+			119			Extracellular (Potential).		O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.356A>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	A	6.058	0.379007	0.11466	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.71934	-0.61;-0.61	5.96	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	1.051890	0.07400	N	0.890649	T	0.25158	0.0611	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35624	-0.9781	10	0.09338	T	0.73	-0.6503	5.3779	0.16176	0.2859:0.4887:0.1372:0.0883	.	119	Q9UPC5	GPR34_HUMAN	R	119;119;72	ENSP00000367384:K119R;ENSP00000367378:K119R	ENSP00000367378:K119R	K	+	2	0	GPR34	41440186	0.000000	0.05858	0.788000	0.31933	0.998000	0.95712	0.028000	0.13644	-0.585000	0.05905	0.481000	0.45027	AAG		0.378	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		17	358	0	0	0	0.012319	0	17	358				
SHROOM4	57477	broad.mit.edu	37	X	50376205	50376205	+	Silent	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:50376205A>C	ENST00000289292.7	-	4	3151	c.2868T>G	c.(2866-2868)acT>acG	p.T956T	SHROOM4_ENST00000376020.2_Silent_p.T956T|SHROOM4_ENST00000460112.3_Silent_p.T840T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	956					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGGTTTCCAAGTGTTGCCAG	0.498																																							uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2866-2868)ACT>ACG		shroom family member 4							55.0	44.0	48.0					X																	50376205		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376205A>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2868T>G	X.37:g.50376205A>C						SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.T840T	p.T956T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2894	-	Ovarian(276;0.236)		956					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.2868T>G	CCDS35277.1																																																																																				0.498	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		21	26	0	0	0	0.016522	0	21	26				
MAGEH1	28986	broad.mit.edu	37	X	55479158	55479158	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:55479158G>C	ENST00000342972.1	+	1	621	c.351G>C	c.(349-351)aaG>aaC	p.K117N	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	117	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TGCTGGGGAAGTTAGGAATGC	0.498																																							uc004dum.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(349-351)AAG>AAC		melanoma antigen, family H, 1 protein							83.0	72.0	76.0					X																	55479158		2203	4300	6503	SO:0001583	missense	28986				apoptosis			g.chrX:55479158G>C	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.351G>C	X.37:g.55479158G>C	ENSP00000343706:p.Lys117Asn						p.K117N	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	621	+			117			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.351G>C	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	7.008	0.556207	0.13436	.	.	ENSG00000187601	ENST00000342972	T	0.05382	3.45	3.02	1.19	0.21007	.	0.000000	0.35805	N	0.002965	T	0.03695	0.0105	N	0.16656	0.425	0.09310	N	1	P	0.49090	0.919	P	0.44772	0.46	T	0.39440	-0.9614	10	0.25751	T	0.34	-3.1451	3.1593	0.06515	0.1502:0.0:0.5892:0.2607	.	117	Q9H213	MAGH1_HUMAN	N	117	ENSP00000343706:K117N	ENSP00000343706:K117N	K	+	3	2	MAGEH1	55495883	0.998000	0.40836	0.190000	0.23270	0.003000	0.03518	0.726000	0.25984	0.190000	0.20209	-0.225000	0.12378	AAG		0.498	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		4	102	0	0	0	0.009096	0	4	102				
AMER1	139285	broad.mit.edu	37	X	63412533	63412533	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:63412533G>A	ENST00000330258.3	-	2	906	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AMER1_ENST00000403336.1_Missense_Mutation_p.P212S|AMER1_ENST00000374869.3_Missense_Mutation_p.P212S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	212					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCACCTGAGGGGCTGAGCTC	0.592																																							uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(634-636)CCT>TCT		family with sequence similarity 123B							50.0	46.0	47.0					X																	63412533		2201	4296	6497	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412533G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.634C>T	X.37:g.63412533G>A	ENSP00000329117:p.Pro212Ser						p.P212S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	907	-			212					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.634C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	3.956	-0.011213	0.07727	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.16457	2.34;2.34;2.34	5.13	2.31	0.28768	.	1.368860	0.04944	N	0.459055	T	0.09598	0.0236	N	0.12182	0.205	0.22954	N	0.998511	B	0.16166	0.016	B	0.20767	0.031	T	0.37979	-0.9682	10	0.17369	T	0.5	.	4.0051	0.09597	0.2764:0.0:0.5559:0.1677	.	212	Q5JTC6	F123B_HUMAN	S	212	ENSP00000364003:P212S;ENSP00000329117:P212S;ENSP00000384722:P212S	ENSP00000329117:P212S	P	-	1	0	FAM123B	63329258	0.012000	0.17670	0.007000	0.13788	0.166000	0.22503	1.068000	0.30629	0.230000	0.21059	0.600000	0.82982	CCT		0.592	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		6	113	0	0	0	0.021553	0	6	113				
BTK	695	broad.mit.edu	37	X	100611180	100611180	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:100611180A>T	ENST00000308731.7	-	15	1589	c.1426T>A	c.(1426-1428)Tac>Aac	p.Y476N	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	476	Inhibitor-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Y -> D (in XLA). {ECO:0000269|PubMed:7627183}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGCCATGTACTCAGTGATG	0.532									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM950166	BTK	M		c.(1426-1428)TAC>AAC		Bruton agammaglobulinemia tyrosine kinase							87.0	70.0	75.0					X																	100611180		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611180A>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1426T>A	X.37:g.100611180A>T	ENSP00000308176:p.Tyr476Asn					BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.Y46N|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.Y510N|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.Y476N	p.Y476N	NM_000061	NP_000052	Q06187	BTK_HUMAN			15	1619	-			476		Y -> D (in XLA).	Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1426T>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108026	0.77096	.	.	ENSG00000010671	ENST00000395179;ENST00000443591;ENST00000308731	D	0.91792	-2.91	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.056718	0.64402	D	0.000001	D	0.96346	0.8808	M	0.87900	2.915	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.991;0.991;0.999	D;D;D;D	0.76071	0.987;0.964;0.961;0.964	D	0.96962	0.9702	10	0.87932	D	0	.	14.5286	0.67909	1.0:0.0:0.0:0.0	.	147;147;476;476	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	N	147;147;476	ENSP00000308176:Y476N	ENSP00000308176:Y476N	Y	-	1	0	BTK	100497836	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	9.339000	0.96797	1.891000	0.54761	0.486000	0.48141	TAC		0.532	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		31	64	0	0	0	0.041601	0	31	64				
AMOT	154796	broad.mit.edu	37	X	112035062	112035062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:112035062G>A	ENST00000524145.1	-	7	1998	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q410*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q233*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.Q642*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q410*			Q4VCS5	AMOT_HUMAN	angiomotin	642					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCATACCTGCTGGATTCTC	0.448																																							uc004epr.2		NA																	0				ovary(1)	1						c.(1924-1926)CAG>TAG		angiomotin isoform 1							121.0	114.0	117.0					X																	112035062		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112035062G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1924C>T	X.37:g.112035062G>A	ENSP00000429013:p.Gln642*					AMOT_uc004eps.2_Nonsense_Mutation_p.Q233*	p.Q642*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			6	1924	-			642			Potential.		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1924C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	39	7.845215	0.98522	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-14.7434	17.8505	0.88746	0.0:0.0:1.0:0.0	.	.	.	.	X	233;642;410;642;410	.	ENSP00000305557:Q233X	Q	-	1	0	AMOT	111921718	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.435000	0.82474	0.600000	0.82982	CAG		0.448	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		44	136	0	0	0	0.01441	0	44	136				
BCORL1	63035	broad.mit.edu	37	X	129159037	129159037	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:129159037A>G	ENST00000218147.7	+	7	3958	c.3761A>G	c.(3760-3762)gAa>gGa	p.E1254G	BCORL1_ENST00000540052.1_Missense_Mutation_p.E1254G|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.E1254G			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1254					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCACAGAAGAAGAAGAGGAG	0.557																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3760-3762)GAA>GGA		BCL6 co-repressor-like 1							123.0	117.0	119.0					X																	129159037		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159037A>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3761A>G	X.37:g.129159037A>G	ENSP00000218147:p.Glu1254Gly					BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.E16G	p.E1254G	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			7	3875	+			1254					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3761A>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794561	0.70452	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.64438	-0.1;0.43;-0.1;0.53	5.84	4.66	0.58398	.	0.000000	0.37136	N	0.002230	T	0.64271	0.2583	N	0.24115	0.695	0.42318	D	0.992241	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.867	T	0.63532	-0.6616	10	0.34782	T	0.22	-21.4466	10.9094	0.47099	0.9236:0.0:0.0764:0.0	.	1254;1254	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	G	1254;1254;1254;854	ENSP00000218147:E1254G;ENSP00000307541:E1254G;ENSP00000437775:E1254G;ENSP00000399483:E854G	ENSP00000218147:E1254G	E	+	2	0	BCORL1	128986718	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.429000	0.59901	1.957000	0.56846	0.486000	0.48141	GAA		0.557	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		20	241	0	0	0	0.043863	0	20	241				
DKC1	1736	broad.mit.edu	37	X	153994220	153994220	+	Silent	SNP	A	A	G			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:153994220A>G	ENST00000369550.5	+	4	420	c.210A>G	c.(208-210)acA>acG	p.T70T	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	70					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.T70T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACACTATACACCTCTTGCAT	0.388									Congenital Dyskeratosis																														uc004fmm.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(208-210)ACA>ACG		dyskerin isoform 1							181.0	154.0	163.0					X																	153994220		2203	4300	6503	SO:0001819	synonymous_variant	1736	Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994220A>G	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.210A>G	X.37:g.153994220A>G						DKC1_uc010nvf.2_Silent_p.T70T|SNORA36A_uc004fmn.2_5'Flank	p.T70T	NM_001363	NP_001354	O60832	DKC1_HUMAN			4	420	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		70					F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	c.210A>G	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326981	0.24080	.	.	ENSG00000130826	ENST00000437719	D	0.97598	-4.45	5.88	-3.34	0.04943	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87244	0.2268	7	0.87932	D	0	-18.7209	0.495	0.00570	0.4183:0.1684:0.1608:0.2525	.	.	.	.	A	56	ENSP00000395693:T56A	ENSP00000395693:T56A	T	+	1	0	DKC1	153647414	0.200000	0.23398	0.950000	0.38849	0.838000	0.47535	-0.459000	0.06728	-0.983000	0.03511	0.486000	0.48141	ACC		0.388	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		8	177	0	0	0	0.038147	0	8	177				
F8	2157	broad.mit.edu	37	X	154133104	154133104	+	Nonsense_Mutation	SNP	A	A	C			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chrX:154133104A>C	ENST00000360256.4	-	16	5768	c.5568T>G	c.(5566-5568)taT>taG	p.Y1856*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1856	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAGAGAAATAAGCCCAGG	0.368																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM980704	F8	M		c.(5566-5568)TAT>TAG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						114.0	93.0	100.0					X																	154133104		2203	4300	6503	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154133104A>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5568T>G	X.37:g.154133104A>C	ENSP00000353393:p.Tyr1856*					F8_uc010nvi.1_Nonsense_Mutation_p.Y15*	p.Y1856*	NM_000132	NP_000123	P00451	FA8_HUMAN			16	5739	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1856			F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.5568T>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	46	12.917181	0.99706	.	.	ENSG00000185010	ENST00000360256	.	.	.	4.91	-0.314	0.12750	.	0.059749	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4388	10.3232	0.43777	0.455:0.0:0.545:0.0	.	.	.	.	X	1856	.	ENSP00000353393:Y1856X	Y	-	3	2	F8	153786298	0.999000	0.42202	0.994000	0.49952	0.992000	0.81027	0.692000	0.25482	-0.351000	0.08249	0.412000	0.27726	TAT		0.368	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			13	123	0	0	0	0.016723	0	13	123				
KDM4A	9682	broad.mit.edu	37	1	44133491	44133493	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:44133491_44133493delAGA	ENST00000372396.3	+	9	1098_1100	c.964_966delAGA	c.(964-966)agadel	p.R322del		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	322					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGTGTTTGTGAGAAAGTTCCAGC	0.483																																							uc001cjx.2		NA																	0				skin(1)	1						c.(964-966)AGAdel		jumonji domain containing 2A																																				SO:0001651	inframe_deletion	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44133491_44133493delAGA	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.964_966delAGA	1.37:g.44133491_44133493delAGA	ENSP00000361473:p.Arg322del					KDM4A_uc010oki.1_In_Frame_Del_p.R322del	p.R322del	NM_014663	NP_055478	O75164	KDM4A_HUMAN			9	1130_1132	+			322					Q5VVB1	In_Frame_Del	DEL	ENST00000372396.3	37	c.964_966delAGA	CCDS491.1																																																																																				0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		20	80	NA	NA	NA	NA	NA	20	80	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743032	234743034	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr1:234743032_234743034delTGA	ENST00000366609.3	-	2	1643_1645	c.1613_1615delTCA	c.(1612-1617)atcaaa>aaa	p.I538del	IRF2BP2_ENST00000366610.3_In_Frame_Del_p.I522del|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	538	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCCTGCTGTTTGATGCTTTGTCT	0.567																																							uc001hwg.2		NA																	0					0						c.(1612-1617)ATCAAA>AAA		interferon regulatory factor 2 binding protein 2																																				SO:0001651	inframe_deletion	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743032_234743034delTGA	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1613_1615delTCA	1.37:g.234743032_234743034delTGA	ENSP00000355568:p.Ile538del					IRF2BP2_uc009xfw.2_In_Frame_Del_p.I148del|IRF2BP2_uc001hwf.2_In_Frame_Del_p.I522del	p.I538del	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1644_1646	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	538			Cys-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	c.1613_1615delTCA	CCDS1602.1																																																																																				0.567	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		46	69	NA	NA	NA	NA	NA	46	69	---	---	---	---
CD9	928	broad.mit.edu	37	12	6344416	6344416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr12:6344416delT	ENST00000382518.1	+	6	806	c.370delT	c.(370-372)tttfs	p.F124fs	CD9_ENST00000009180.4_Frame_Shift_Del_p.F124fs|CD9_ENST00000382515.2_Frame_Shift_Del_p.F55fs|CD9_ENST00000481267.1_3'UTR|Y_RNA_ENST00000365448.1_RNA			P21926	CD9_HUMAN	CD9 molecule	124					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						AGTCCAGGAGTTTTACAAGGA	0.498																																							uc001qnp.1		NA																	0				ovary(1)	1						c.(370-372)TTTfs		CD9 antigen							202.0	187.0	192.0					12																	6344416		2203	4300	6503	SO:0001589	frameshift_variant	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6344416delT	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.370delT	12.37:g.6344416delT	ENSP00000371958:p.Phe124fs					CD9_uc010sev.1_Frame_Shift_Del_p.F124fs|CD9_uc001qnq.1_Frame_Shift_Del_p.F124fs	p.F124fs	NM_001769	NP_001760	P21926	CD9_HUMAN			6	814	+			124			Extracellular (Potential).		D3DUQ9|Q5J7W6|Q96ES4	Frame_Shift_Del	DEL	ENST00000382518.1	37	c.370delT	CCDS8540.1																																																																																				0.498	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			27	70	NA	NA	NA	NA	NA	27	70	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	28928144	28928144	+	Frame_Shift_Del	DEL	G	G	-	rs557308039	byFrequency	TCGA-64-1681-01A-11D-2063-08	TCGA-64-1681-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3813c301-9622-4567-bc72-d17acbeb236f	dde29d2e-09a2-4467-a8f4-2b1d37ce634a	g.chr8:28928144delG	ENST00000524189.1	-	40	5396	c.5358delC	c.(5356-5358)cccfs	p.P1786fs	CTD-2647L4.5_ENST00000560714.1_RNA|KIF13B_ENST00000404075.3_Frame_Shift_Del_p.P305fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1786					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGCGGGCCTCGGGGGCACCCA	0.736																																							uc003xhh.3		NA																	0					0						c.(5356-5358)CCCfs		kinesin family member 13B																																				SO:0001589	frameshift_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28928144delG	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5358delC	8.37:g.28928144delG	ENSP00000427900:p.Pro1786fs					KIF13B_uc011laz.1_Frame_Shift_Del_p.P305fs	p.P1786fs	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	40	5417	-		Ovarian(32;0.000536)	1786					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	c.5358delC	CCDS55217.1																																																																																				0.736	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
