#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
TAS1R3	83756	broad.mit.edu	37	1	1268372	1268372	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:1268372C>A	ENST00000339381.5	+	4	1379	c.1347C>A	c.(1345-1347)aaC>aaA	p.N449K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	449					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCAGCGGAAACGTGGACATGG	0.672																																							uc010nyk.1		NA																	0					0						c.(1345-1347)AAC>AAA		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						51.0	51.0	51.0					1																	1268372		2200	4295	6495	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268372C>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1347C>A	1.37:g.1268372C>A	ENSP00000344411:p.Asn449Lys						p.N449K	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	4	1347	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	449			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1347C>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954404	0.34471	.	.	ENSG00000169962	ENST00000339381	D	0.82433	-1.61	4.86	-1.91	0.07641	Extracellular ligand-binding receptor (1);	0.398141	0.27189	N	0.020507	D	0.86875	0.6038	M	0.80746	2.51	0.09310	N	1	D	0.69078	0.997	D	0.64877	0.93	T	0.78347	-0.2239	10	0.72032	D	0.01	.	6.077	0.19921	0.0:0.39:0.1269:0.4832	.	449	Q7RTX0	TS1R3_HUMAN	K	449	ENSP00000344411:N449K	ENSP00000344411:N449K	N	+	3	2	TAS1R3	1258235	0.086000	0.21541	0.074000	0.20217	0.482000	0.33219	-0.340000	0.07821	-0.350000	0.08262	0.456000	0.33151	AAC		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			55	37	1	0	4.96213e-28	0.00361	6.8588e-28	55	37				
PRDM16	63976	broad.mit.edu	37	1	3319455	3319455	+	Silent	SNP	G	G	T	rs557978089		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:3319455G>T	ENST00000270722.5	+	6	826	c.777G>T	c.(775-777)gcG>gcT	p.A259A	PRDM16_ENST00000378391.2_Silent_p.A259A|PRDM16_ENST00000442529.2_Silent_p.A259A|PRDM16_ENST00000378398.3_Silent_p.A260A|PRDM16_ENST00000514189.1_Silent_p.A260A|PRDM16_ENST00000511072.1_Silent_p.A260A|PRDM16_ENST00000441472.2_Silent_p.A259A|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	259					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGGGGCTGCGCTCTACGAGG	0.642			T	EVI1	"""MDS, AML"""																																		uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(775-777)GCG>GCT		PR domain containing 16 isoform 1							48.0	59.0	55.0					1																	3319455		2142	4260	6402	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319455G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.777G>T	1.37:g.3319455G>T						PRDM16_uc001akc.2_Silent_p.A259A|PRDM16_uc001akd.2_Silent_p.A259A|PRDM16_uc001ake.2_Silent_p.A259A|PRDM16_uc009vlh.2_5'UTR	p.A259A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	857	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	259					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.777G>T	CCDS41236.2																																																																																				0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		85	33	1	0	2.33499e-56	0.00361	3.57545e-56	85	33				
KLHL21	9903	broad.mit.edu	37	1	6653499	6653499	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:6653499C>G	ENST00000377658.4	-	4	1771	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q	KLHL21_ENST00000467612.1_Missense_Mutation_p.E207Q|KLHL21_ENST00000377663.3_3'UTR	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	574					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGTCCAACTCGAAGCCACGC	0.687																																							uc001aoa.2		NA																	0				central_nervous_system(1)	1						c.(1720-1722)GAG>CAG		kelch-like 21							60.0	56.0	58.0					1																	6653499		2203	4300	6503	SO:0001583	missense	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6653499C>G	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1720G>C	1.37:g.6653499C>G	ENSP00000366886:p.Glu574Gln					KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.2_Missense_Mutation_p.E207Q	p.E574Q	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	4	1772	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	574					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	c.1720G>C	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473517	0.43942	.	.	ENSG00000162413	ENST00000377658;ENST00000505933	T	0.72942	-0.7	5.33	4.4	0.53042	.	1.549940	0.03705	N	0.249336	T	0.53302	0.1788	N	0.19112	0.55	0.80722	D	1	P	0.38827	0.649	B	0.26310	0.068	T	0.57757	-0.7756	10	0.51188	T	0.08	.	7.1029	0.25348	0.0:0.8336:0.0:0.1664	.	574	Q9UJP4	KLH21_HUMAN	Q	574;12	ENSP00000366886:E574Q	ENSP00000366886:E574Q	E	-	1	0	KLHL21	6576086	0.229000	0.23729	0.997000	0.53966	0.621000	0.37620	1.751000	0.38339	2.655000	0.90218	0.655000	0.94253	GAG		0.687	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		5	118	0	0	0	0.000602	0	5	118				
VPS13D	55187	broad.mit.edu	37	1	12567033	12567033	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:12567033C>T	ENST00000358136.3	+	69	13051	c.12921C>T	c.(12919-12921)ctC>ctT	p.L4307L	SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Silent_p.L4282L|VPS13D_ENST00000543766.1_Silent_p.L305L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.L111L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGATGACCTCTACCACTGCC	0.527																																							uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(12919-12921)CTC>CTT		vacuolar protein sorting 13D isoform 1							138.0	130.0	133.0					1																	12567033		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12567033C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12921C>T	1.37:g.12567033C>T						VPS13D_uc001atw.2_Silent_p.L4282L|VPS13D_uc001atx.2_Silent_p.L3494L|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.L305L|SNORA59B_uc001atz.1_5'Flank	p.L4307L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	69	13062	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4306						Silent	SNP	ENST00000358136.3	37	c.12921C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.669	1.146254	0.21288	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.71787	0.3381	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69254	-0.5193	4	.	.	.	.	15.5568	0.76200	0.0:0.7478:0.2522:0.0	.	.	.	.	F	3129	.	.	S	+	2	0	VPS13D	12489620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.386000	0.44380	2.778000	0.95560	0.655000	0.94253	TCT		0.527	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		9	197	0	0	0	0.004482	0	9	197				
DHRS3	9249	broad.mit.edu	37	1	12638760	12638760	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:12638760C>G	ENST00000376223.2	-	4	1067	c.684G>C	c.(682-684)caG>caC	p.Q228H	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	228					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CTCTCATGCCCTGGAACATCT	0.612																																							uc001auc.2		NA																	0				skin(1)	1						c.(682-684)CAG>CAC		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						59.0	53.0	55.0					1																	12638760		2203	4300	6503	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12638760C>G	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.684G>C	1.37:g.12638760C>G	ENSP00000365397:p.Gln228His					DHRS3_uc001aub.2_Missense_Mutation_p.Q143H	p.Q228H	NM_004753	NP_004744	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	4	1151	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	228					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.684G>C	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408254	0.83340	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.89681	-2.55;0.68	5.53	5.53	0.82687	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	L	0.41236	1.265	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	D	0.90409	0.4408	10	0.56958	D	0.05	.	13.7093	0.62659	0.0:0.9264:0.0:0.0736	.	228	O75911	DHRS3_HUMAN	H	228;143	ENSP00000365397:Q228H;ENSP00000387903:Q143H	ENSP00000365397:Q228H	Q	-	3	2	DHRS3	12561347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.816000	0.55658	2.586000	0.87340	0.591000	0.81541	CAG		0.612	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		5	69	0	0	0	0.001168	0	5	69				
CLCNKB	1188	broad.mit.edu	37	1	16375011	16375011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:16375011C>T	ENST00000375679.4	+	7	700	c.589C>T	c.(589-591)Caa>Taa	p.Q197*	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	197					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGAGCAAGCAAAACGAAAT	0.642																																							uc001axw.3		NA																	0				skin(1)	1						c.(589-591)CAA>TAA		chloride channel Kb isoform 1							47.0	50.0	49.0					1																	16375011		2202	4276	6478	SO:0001587	stop_gained	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16375011C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.589C>T	1.37:g.16375011C>T	ENSP00000364831:p.Gln197*					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Nonsense_Mutation_p.Q197*|CLCNKB_uc001axy.3_5'Flank	p.Q197*	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	7	669	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	197					B3KUY3|Q5T5Q7|Q5T5Q8	Nonsense_Mutation	SNP	ENST00000375679.4	37	c.589C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	38	6.688647	0.97764	.	.	ENSG00000184908	ENST00000375679	.	.	.	4.68	3.74	0.42951	.	0.552403	0.19658	N	0.109053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	8.7968	0.34885	0.1648:0.6638:0.1714:0.0	.	.	.	.	X	197	.	ENSP00000364831:Q197X	Q	+	1	0	CLCNKB	16247598	0.038000	0.19896	0.191000	0.23289	0.948000	0.59901	0.721000	0.25911	0.912000	0.36772	0.655000	0.94253	CAA		0.642	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		27	81	0	0	0	0.003755	0	27	81				
NBPF1	55672	broad.mit.edu	37	1	16907242	16907242	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:16907242G>A	ENST00000430580.2	-	16	2476	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTT	0.418																																							uc009vos.1		NA																	0					0						c.(1588-1590)CCA>CTA		hypothetical protein LOC55672							412.0	431.0	424.0					1																	16907242		2199	4294	6493	SO:0001583	missense	55672					cytoplasm		g.chr1:16907242G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1589C>T	1.37:g.16907242G>A	ENSP00000474456:p.Pro530Leu					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259L	p.P530L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2477	-			530			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1589C>T																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		13	832	0	0	0	0.003163	0	13	832				
CROCC	9696	broad.mit.edu	37	1	17295727	17295727	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:17295727G>T	ENST00000375541.5	+	32	5262	c.5193G>T	c.(5191-5193)ctG>ctT	p.L1731L		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCGGGGCCTGACAGAGGCCC	0.657																																							uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(5191-5193)CTG>CTT		ciliary rootlet coiled-coil							24.0	28.0	27.0					1																	17295727		2203	4300	6503	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17295727G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5193G>T	1.37:g.17295727G>T						CROCC_uc001azu.2_Silent_p.L1034L|CROCC_uc001azv.2_Silent_p.L67L	p.L1731L	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	32	5262	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1731						Silent	SNP	ENST00000375541.5	37	c.5193G>T	CCDS30616.1																																																																																				0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		33	11	1	0	1.99505e-19	0.012213	2.52278e-19	33	11				
PADI2	11240	broad.mit.edu	37	1	17402181	17402181	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:17402181C>T	ENST00000375486.4	-	12	1511	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	PADI2_ENST00000444885.2_Missense_Mutation_p.G367D|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	483					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACCTTTGTGCCGGGGATGGG	0.587											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001baf.2		NA																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1447-1449)GGC>GAC		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						76.0	78.0	77.0					1																	17402181		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17402181C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1448G>A	1.37:g.17402181C>T	ENSP00000364635:p.Gly483Asp		OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	PADI2_uc010ocm.1_Missense_Mutation_p.G367D	p.G483D	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	12	1530	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	483					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.1448G>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	3.637	-0.074386	0.07184	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.18016	2.24;2.24	4.47	3.56	0.40772	Protein-arginine deiminase, C-terminal (1);	0.105878	0.64402	D	0.000006	T	0.04048	0.0113	N	0.01015	-1.05	0.42430	D	0.992672	B;B	0.15930	0.015;0.0	B;B	0.19946	0.027;0.001	T	0.31081	-0.9956	10	0.02654	T	1	-22.98	6.2889	0.21049	0.0:0.7163:0.0:0.2837	.	367;483	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	D	483;367	ENSP00000364635:G483D;ENSP00000405894:G367D	ENSP00000364635:G483D	G	-	2	0	PADI2	17274768	0.997000	0.39634	1.000000	0.80357	0.958000	0.62258	1.015000	0.29963	1.255000	0.44051	0.655000	0.94253	GGC		0.587	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			4	199	0	0	0	0.001984	0	4	199				
UBR4	23352	broad.mit.edu	37	1	19446747	19446747	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:19446747G>A	ENST00000375254.3	-	69	10264	c.10237C>T	c.(10237-10239)Cgt>Tgt	p.R3413C	UBR4_ENST00000375217.2_Missense_Mutation_p.R3406C|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.R3389C|UBR4_ENST00000375267.2_Missense_Mutation_p.R3413C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3413					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAACAACGCAGGAACTGG	0.547																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(10237-10239)CGT>TGT		retinoblastoma-associated factor 600							126.0	113.0	117.0					1																	19446747		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19446747G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10237C>T	1.37:g.19446747G>A	ENSP00000364403:p.Arg3413Cys					UBR4_uc001bbj.1_5'Flank	p.R3413C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	69	10241	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3413					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10237C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229181	0.95173	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.67397	2.05	0.80722	D	1	D	0.56287	0.975	B	0.36666	0.23	T	0.69756	-0.5059	10	0.87932	D	0	.	18.4558	0.90720	0.0:0.0:1.0:0.0	.	3413	Q5T4S7	UBR4_HUMAN	C	3413;3413;3406;3389	ENSP00000364403:R3413C;ENSP00000364416:R3413C;ENSP00000364365:R3406C;ENSP00000364374:R3389C	ENSP00000364365:R3406C	R	-	1	0	UBR4	19319334	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	CGT		0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		72	119	0	0	0	0.00361	0	72	119				
KIF17	57576	broad.mit.edu	37	1	21039953	21039953	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:21039953C>T	ENST00000247986.2	-	3	784	c.474G>A	c.(472-474)aaG>aaA	p.K158K	KIF17_ENST00000375044.1_Silent_p.K58K|KIF17_ENST00000400463.3_Silent_p.K158K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	158	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACCTCCAGCTTCTGCTTGG	0.582																																							uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(472-474)AAG>AAA		kinesin family member 17 isoform a							58.0	51.0	54.0					1																	21039953		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21039953C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.474G>A	1.37:g.21039953C>T						KIF17_uc001bds.3_Silent_p.K158K	p.K158K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	3	592	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	158			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.474G>A	CCDS213.1																																																																																				0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		25	14	0	0	0	0.00632	0	25	14				
CELA3B	23436	broad.mit.edu	37	1	22310769	22310769	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:22310769C>T	ENST00000337107.6	+	6	606	c.587C>T	c.(586-588)tCc>tTc	p.S196F	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGTGGGGTTCCTCCGTGAAG	0.612																																							uc001bfk.2		NA																	0				ovary(1)	1						c.(586-588)TCC>TTC		elastase 3B, pancreatic preproprotein							117.0	112.0	113.0					1																	22310769		2203	4300	6503	SO:0001583	missense	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22310769C>T	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.587C>T	1.37:g.22310769C>T	ENSP00000338369:p.Ser196Phe					CELA3B_uc009vqf.2_Intron	p.S196F	NM_007352	NP_031378	P08861	CEL3B_HUMAN			6	702	+			196			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	c.587C>T	CCDS219.1	.	.	.	.	.	.	.	.	.	.	C	3.187	-0.166608	0.06461	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.88896	-2.44;-2.44	4.53	-6.04	0.02178	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.715510	0.02598	N	0.100782	D	0.84374	0.5458	L	0.54323	1.7	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.69117	-0.5230	10	0.45353	T	0.12	0.3362	7.4594	0.27285	0.0:0.259:0.5201:0.2209	.	196	P08861	CEL3B_HUMAN	F	196;99	ENSP00000338369:S196F;ENSP00000383135:S99F	ENSP00000338369:S196F	S	+	2	0	CELA3B	22183356	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-3.655000	0.00402	-0.848000	0.04163	-0.781000	0.03364	TCC		0.612	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		53	121	0	0	0	0.00361	0	53	121				
ZNF683	257101	broad.mit.edu	37	1	26688394	26688394	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:26688394C>T	ENST00000436292.1	-	7	1443	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ZNF683_ENST00000374204.1_Silent_p.L421L|ZNF683_ENST00000403843.1_Silent_p.L441L|ZNF683_ENST00000349618.3_Silent_p.L421L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	441					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTGCAGCTTCAGGTGGATGT	0.677																																							uc001bmg.1		NA																	0					0						c.(1321-1323)CTG>CTA		zinc finger protein 683							48.0	50.0	49.0					1																	26688394		2203	4299	6502	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688394C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1323G>A	1.37:g.26688394C>T						ZNF683_uc001bmh.1_Silent_p.L421L|ZNF683_uc009vsj.1_Silent_p.L421L	p.L441L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1441	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	441			C2H2-type 4.		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.1323G>A																																																																																					0.677	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		7	111	0	0	0	0.00308	0	7	111				
KDF1	126695	broad.mit.edu	37	1	27278134	27278134	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:27278134C>T	ENST00000320567.5	-	2	826	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		246					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTGTCAGCTTCTTGAAGA	0.522																																							uc001bni.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(736-738)AAG>AAA		hypothetical protein LOC126695							50.0	47.0	48.0					1																	27278134		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278134C>T																												ENST00000320567.5:c.738G>A	1.37:g.27278134C>T							p.K246K	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	827	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	246					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.738G>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	8.138	0.784616	0.16189	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	T	0.72447	0.3461	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76146	-0.3066	5	0.87932	D	0	.	12.8377	0.57782	0.0:0.9216:0.0:0.0784	.	.	.	.	N	207	.	ENSP00000363223:S207N	S	-	2	0	C1orf172	27150721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.769000	0.38522	1.245000	0.43885	0.555000	0.69702	AGC		0.522	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			8	54	0	0	0	0.00308	0	8	54				
FAM46B	115572	broad.mit.edu	37	1	27332471	27332471	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:27332471C>G	ENST00000289166.5	-	2	1407	c.1242G>C	c.(1240-1242)ctG>ctC	p.L414L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	414										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGGCGTGAGCCAGGAGAGGTT	0.662																																							uc010ofj.1		NA																	0				central_nervous_system(1)	1						c.(1240-1242)CTG>CTC		hypothetical protein LOC115572							70.0	68.0	69.0					1																	27332471		2203	4300	6503	SO:0001819	synonymous_variant	115572							g.chr1:27332471C>G	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.1242G>C	1.37:g.27332471C>G							p.L414L	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	1414	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	414						Silent	SNP	ENST00000289166.5	37	c.1242G>C	CCDS294.2																																																																																				0.662	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		34	124	0	0	0	0.00623	0	34	124				
C1orf94	84970	broad.mit.edu	37	1	34667797	34667797	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:34667797G>C	ENST00000488417.1	+	4	1503	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	C1orf94_ENST00000373374.3_Missense_Mutation_p.W271C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	461										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGCCACTCTGGCTCAACCTGA	0.522																																							uc001bxs.3		NA																	0					0						c.(811-813)TGG>TGC		hypothetical protein LOC84970 isoform b							187.0	157.0	167.0					1																	34667797		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34667797G>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1383G>C	1.37:g.34667797G>C	ENSP00000435634:p.Trp461Cys					C1orf94_uc001bxt.2_Missense_Mutation_p.W461C	p.W271C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			4	1212	+		Myeloproliferative disorder(586;0.0393)	271					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.813G>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542031	0.65198	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.26223	1.75;1.75	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000015	T	0.52125	0.1715	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53556	-0.8422	10	0.87932	D	0	-14.9793	15.3446	0.74327	0.0:0.0:1.0:0.0	.	461	Q6P1W5	CA094_HUMAN	C	271;461	ENSP00000362472:W271C;ENSP00000435634:W461C	ENSP00000362472:W271C	W	+	3	0	C1orf94	34440384	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.405000	0.66351	2.695000	0.91970	0.462000	0.41574	TGG		0.522	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		38	87	0	0	0	0.00361	0	38	87				
GJB5	2709	broad.mit.edu	37	1	35223715	35223715	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:35223715G>C	ENST00000338513.1	+	2	957	c.784G>C	c.(784-786)Gac>Cac	p.D262H	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	262					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCTCTTACCAGACCGCCCCCG	0.567																																							uc001bxu.2		NA																	0				ovary(1)	1						c.(784-786)GAC>CAC		gap junction protein, beta 5, 31.1kDa							86.0	78.0	81.0					1																	35223715		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223715G>C	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.784G>C	1.37:g.35223715G>C	ENSP00000340811:p.Asp262His					GJB4_uc001bxv.1_5'Flank	p.D262H	NM_005268	NP_005259	O95377	CXB5_HUMAN			2	884	+		Myeloproliferative disorder(586;0.0393)	262			Cytoplasmic (Potential).		Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.784G>C	CCDS382.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988172	0.18966	.	.	ENSG00000189280	ENST00000338513	D	0.98221	-4.8	5.61	3.74	0.42951	.	0.787227	0.11995	N	0.509373	D	0.96911	0.8991	M	0.68952	2.095	0.22541	N	0.999008	P	0.45569	0.861	B	0.42163	0.378	D	0.91760	0.5419	10	0.49607	T	0.09	.	9.354	0.38155	0.1657:0.0:0.8343:0.0	.	262	O95377	CXB5_HUMAN	H	262	ENSP00000340811:D262H	ENSP00000340811:D262H	D	+	1	0	GJB5	34996302	0.001000	0.12720	0.018000	0.16275	0.012000	0.07955	0.319000	0.19522	0.731000	0.32448	0.563000	0.77884	GAC		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		27	49	0	0	0	0.00632	0	27	49				
YRDC	79693	broad.mit.edu	37	1	38272561	38272561	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:38272561G>A	ENST00000373044.2	-	3	596	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373043.1_5'Flank|C1orf122_ENST00000468084.1_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	198	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGAGCTGAGGTTGGCACTA	0.507																																							uc001cca.1		NA																	0					0						c.(592-594)CTC>TTC		ischemia/reperfusion inducible protein							94.0	92.0	93.0					1																	38272561		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272561G>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.592C>T	1.37:g.38272561G>A	ENSP00000362135:p.Leu198Phe					C1orf122_uc001ccb.1_5'Flank	p.L198F	NM_024640	NP_078916	Q86U90	YRDC_HUMAN			3	605	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	198			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.592C>T	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753007	0.49362	.	.	ENSG00000196449	ENST00000373044	.	.	.	5.58	1.18	0.20946	DHBP synthase RibB-like alpha/beta domain (2);Sua5/YciO/YrdC, N-terminal (2);Sua5/YciO/YrdC/YwlC (1);	0.306226	0.36703	N	0.002459	T	0.46347	0.1388	L	0.45228	1.405	0.36578	D	0.873385	B	0.22604	0.072	B	0.25614	0.062	T	0.52102	-0.8620	9	0.56958	D	0.05	-8.082	9.0919	0.36617	0.0:0.2717:0.3693:0.3591	.	198	Q86U90	YRDC_HUMAN	F	198	.	ENSP00000362135:L198F	L	-	1	0	YRDC	38045148	0.975000	0.34042	1.000000	0.80357	0.995000	0.86356	0.066000	0.14489	0.665000	0.31066	0.563000	0.77884	CTC		0.507	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		6	126	0	0	0	0.001984	0	6	126				
CDC20	991	broad.mit.edu	37	1	43825182	43825182	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:43825182A>G	ENST00000372462.1	+	2	406	c.203A>G	c.(202-204)cAg>cGg	p.Q68R	CDC20_ENST00000310955.6_Missense_Mutation_p.Q68R|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	68					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCAAGGTTCAGACCACTCCT	0.567																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	Esophageal Squamous(137;1154 1759 10362 10401 46925)	uc001cix.2		NA																	0					0						c.(202-204)CAG>CGG		cell division cycle 20							70.0	72.0	71.0					1																	43825182		2203	4300	6503	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825182A>G	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.203A>G	1.37:g.43825182A>G	ENSP00000361540:p.Gln68Arg					CDC20_uc001ciy.2_Missense_Mutation_p.Q68R	p.Q68R	NM_001255	NP_001246	Q12834	CDC20_HUMAN			3	304	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	68					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.203A>G	CCDS484.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.257174	0.39896	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.54675	0.56;0.56	5.74	5.74	0.90152	.	0.074735	0.56097	D	0.000027	T	0.47893	0.1470	L	0.49350	1.555	0.52099	D	0.999947	B	0.12013	0.005	B	0.12837	0.008	T	0.39502	-0.9611	10	0.19590	T	0.45	-16.2893	16.0441	0.80707	1.0:0.0:0.0:0.0	.	68	Q12834	CDC20_HUMAN	R	68	ENSP00000308450:Q68R;ENSP00000361540:Q68R	ENSP00000308450:Q68R	Q	+	2	0	CDC20	43597769	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.240000	0.72363	2.177000	0.69029	0.533000	0.62120	CAG		0.567	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		35	76	0	0	0	0.004289	0	35	76				
HYI	81888	broad.mit.edu	37	1	43914143	43914143	+	IGR	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:43914143C>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000372442.1_Silent_p.I2420I|SZT2_ENST00000562955.1_Silent_p.I3262I|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGGGACATCGACCCCCAGC	0.627																																							uc001cjk.1		NA																	0					0						c.(7258-7260)ATC>ATA		hypothetical protein LOC23334							23.0	27.0	26.0					1																	43914143		2203	4300	6503	SO:0001628	intergenic_variant	23334					peroxisome		g.chr1:43914143C>A		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914143C>A						KIAA0467_uc001cjl.1_Silent_p.I408I	p.I2420I	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			54	7722	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	3319					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Silent	SNP	ENST00000372425.4	37	c.7260C>A	CCDS53309.1																																																																																				0.627	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		10	33	1	0	2.17888e-05	0.006214	2.27887e-05	10	33				
PTPRF	5792	broad.mit.edu	37	1	44064417	44064417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:44064417G>T	ENST00000359947.4	+	13	2486	c.2146G>T	c.(2146-2148)Gag>Tag	p.E716*	PTPRF_ENST00000438120.1_Nonsense_Mutation_p.E716*|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.E716*|PTPRF_ENST00000422171.2_Nonsense_Mutation_p.E73*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.E716*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	716	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGGAAGGTGGAGGTGGAGCC	0.612																																							uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2146-2148)GAG>TAG		protein tyrosine phosphatase, receptor type, F							58.0	56.0	57.0					1																	44064417		2203	4300	6503	SO:0001587	stop_gained	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44064417G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2146G>T	1.37:g.44064417G>T	ENSP00000353030:p.Glu716*					PTPRF_uc001cjs.2_Nonsense_Mutation_p.E716*|PTPRF_uc001cju.2_Nonsense_Mutation_p.E287*|PTPRF_uc009vwt.2_Nonsense_Mutation_p.E287*|PTPRF_uc001cjv.2_Nonsense_Mutation_p.E185*|PTPRF_uc001cjw.2_5'UTR	p.E716*	NM_002840	NP_002831	P10586	PTPRF_HUMAN			13	2486	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	716			Fibronectin type-III 5.|Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	ENST00000359947.4	37	c.2146G>T	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	37|37|37	6.231727|6.231727|6.231727	0.97399|0.97399|0.97399	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000412568;ENST00000414879|ENST00000429895	.|.|.	.|.|.	.|.|.	4.35|4.35|4.35	4.35|4.35|4.35	0.52113|0.52113|0.52113	.|.|.	0.000000|.|.	0.34652|.|.	N|.|.	0.003795|.|.	.|T|T	.|0.72028|0.72028	.|0.3410|0.3410	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.74985|0.74985	.|-0.3477|-0.3477	.|3|3	0.19590|.|.	T|.|.	0.45|.|.	.|.|.	17.302|17.302|17.302	0.87184|0.87184|0.87184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	716;716;716;716;73|281;138|372	.|.|.	ENSP00000353030:E716X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	PTPRF|PTPRF|PTPRF	43837004|43837004|43837004	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.942000|0.942000|0.942000	0.58702|0.58702|0.58702	7.966000|7.966000|7.966000	0.87956|0.87956|0.87956	2.143000|2.143000|2.143000	0.66587|0.66587|0.66587	0.449000|0.449000|0.449000	0.29647|0.29647|0.29647	GAG|GGA|TGG		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			63	61	1	0	3.06529e-49	0.00361	4.61441e-49	63	61				
SCP2	6342	broad.mit.edu	37	1	53427299	53427299	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:53427299A>G	ENST00000528311.1	+	5	574	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	SCP2_ENST00000407246.2_Missense_Mutation_p.Y150C|SCP2_ENST00000371514.3_Missense_Mutation_p.Y174C|SCP2_ENST00000371513.5_Missense_Mutation_p.Y130C|SCP2_ENST00000371509.4_Missense_Mutation_p.Y130C	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ATGGAAAAATATGGTATGTTA	0.373																																							uc001cur.1		NA																	0				breast(1)	1						c.(520-522)TAT>TGT		sterol carrier protein 2 isoform 1 proprotein							95.0	87.0	90.0					1																	53427299		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53427299A>G	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.278A>G	1.37:g.53427299A>G	ENSP00000434132:p.Tyr93Cys					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.Y93C|SCP2_uc010onp.1_Missense_Mutation_p.Y150C|SCP2_uc009vzi.1_Missense_Mutation_p.Y130C|SCP2_uc001cuq.1_Missense_Mutation_p.Y130C	p.Y174C	NM_002979	NP_002970	P22307	NLTP_HUMAN			6	642	+			174					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.521A>G	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.962677|3.962677	0.74016|0.74016	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000529363|ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	.|D;T;D;D;D	.|0.95272	.|-3.66;-0.81;-3.66;-3.66;-3.66	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Thiolase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98012|0.98012	0.9345|0.9345	H|H	0.96460|0.96460	3.825|3.825	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.81914	.|0.995;0.982;0.992;0.982	D|D	0.99053|0.99053	1.0828|1.0828	5|10	.|0.87932	.|D	.|0	-17.6725|-17.6725	13.6573|13.6573	0.62346|0.62346	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|150;130;174;130	.|C9JC79;A6NM69;P22307;Q6NXF4	.|.;.;NLTP_HUMAN;.	V|C	149|174;93;130;150;130	.|ENSP00000360569:Y174C;ENSP00000434132:Y93C;ENSP00000360564:Y130C;ENSP00000384569:Y150C;ENSP00000360568:Y130C	.|ENSP00000360564:Y130C	M|Y	+|+	1|2	0|0	SCP2|SCP2	53199887|53199887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.397000|7.397000	0.79903|0.79903	2.135000|2.135000	0.66039|0.66039	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.373	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		15	53	0	0	0	0.00245	0	15	53				
DMRTB1	63948	broad.mit.edu	37	1	53930348	53930348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:53930348C>A	ENST00000371445.3	+	3	844	c.789C>A	c.(787-789)taC>taA	p.Y263*	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	263	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGCTACTACCTgccgccgc	0.662																																							uc001cvq.1		NA																	0				ovary(1)|skin(1)	2						c.(787-789)TAC>TAA		DMRT-like family B with proline-rich C-terminal,							30.0	35.0	33.0					1																	53930348		2203	4299	6502	SO:0001587	stop_gained	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930348C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.789C>A	1.37:g.53930348C>A	ENSP00000360500:p.Tyr263*						p.Y263*	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			3	844	+			263			Pro-rich.		Q96SD2	Nonsense_Mutation	SNP	ENST00000371445.3	37	c.789C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823706	0.71143	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	.	.	.	4.5	3.58	0.41010	.	2.501890	0.01348	N	0.011786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5239	10.2072	0.43120	0.0:0.9052:0.0:0.0947	.	.	.	.	X	263;110	.	ENSP00000360500:Y263X	Y	+	3	2	DMRTB1	53702936	0.439000	0.25610	0.664000	0.29753	0.836000	0.47400	0.298000	0.19120	1.246000	0.43901	0.455000	0.32223	TAC		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			20	60	1	0	1.55795e-14	0.012319	1.8574e-14	20	60				
C1orf177	163747	broad.mit.edu	37	1	55277833	55277833	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:55277833C>G	ENST00000371273.3	+	6	748	c.733C>G	c.(733-735)Cca>Gca	p.P245A	C1orf177_ENST00000358193.3_Missense_Mutation_p.P245A	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	245										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCGGAGCAAGCCACTGCCTTA	0.572																																							uc001cyb.3		NA																	0					0						c.(733-735)CCA>GCA		hypothetical protein LOC163747 isoform 2							78.0	66.0	70.0					1																	55277833		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55277833C>G	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.733C>G	1.37:g.55277833C>G	ENSP00000360320:p.Pro245Ala					C1orf177_uc001cya.3_Missense_Mutation_p.P245A	p.P245A	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			6	787	+			245					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.733C>G	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354616	0.24512	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.25085	1.82;1.82	5.06	4.14	0.48551	.	0.088886	0.48286	N	0.000182	T	0.26011	0.0634	L	0.57536	1.79	0.40950	D	0.984532	B;B	0.23540	0.087;0.087	B;B	0.23018	0.043;0.043	T	0.05468	-1.0883	10	0.41790	T	0.15	-6.7451	11.4894	0.50373	0.0:0.8182:0.1818:0.0	.	245;245	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	A	245	ENSP00000350924:P245A;ENSP00000360320:P245A	ENSP00000350924:P245A	P	+	1	0	C1orf177	55050421	0.999000	0.42202	0.479000	0.27329	0.016000	0.09150	2.648000	0.46647	1.103000	0.41568	-0.502000	0.04539	CCA		0.572	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		47	67	0	0	0	0.013114	0	47	67				
C1orf168	199920	broad.mit.edu	37	1	57257879	57257879	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:57257879G>T	ENST00000343433.6	-	2	687	c.607C>A	c.(607-609)Ccc>Acc	p.P203T	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AATATTTTGGGGGCCACCACG	0.493																																							uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(607-609)CCC>ACC		hypothetical protein LOC199920							93.0	99.0	97.0					1																	57257879		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57257879G>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.607C>A	1.37:g.57257879G>T	ENSP00000345972:p.Pro203Thr					C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.P203T	p.P203T	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	1013	-			203					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.607C>A	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888660	0.17540	.	.	ENSG00000187889	ENST00000343433	T	0.28666	1.6	4.55	2.6	0.31112	.	0.476099	0.18317	N	0.144928	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B;B	0.20988	0.02;0.05	B;B	0.19391	0.025;0.014	T	0.16424	-1.0403	10	0.45353	T	0.12	-0.2655	5.6101	0.17400	0.1013:0.0:0.7053:0.1934	.	203;203	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	T	203	ENSP00000345972:P203T	ENSP00000345972:P203T	P	-	1	0	C1orf168	57030467	0.096000	0.21769	0.030000	0.17652	0.002000	0.02628	1.056000	0.30480	0.602000	0.29896	-0.244000	0.11960	CCC		0.493	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		79	138	1	0	1.09326e-46	0.00361	1.63822e-46	79	138				
CACHD1	57685	broad.mit.edu	37	1	65143951	65143951	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:65143951G>T	ENST00000371073.2	+	23	3202	c.3202G>T	c.(3202-3204)Gtg>Ttg	p.V1068L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V1017L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1068					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGGGGGGATTGTGGGAGCCAA	0.473																																							uc001dbo.1		NA																	0				ovary(2)	2						c.(3049-3051)GTG>TTG		cache domain containing 1							94.0	96.0	95.0					1																	65143951		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65143951G>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3202G>T	1.37:g.65143951G>T	ENSP00000360113:p.Val1068Leu					CACHD1_uc001dbp.1_Missense_Mutation_p.V772L|CACHD1_uc001dbq.1_Missense_Mutation_p.V772L|CACHD1_uc010opa.1_Missense_Mutation_p.V261L	p.V1017L	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			23	3154	+			1068			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3049G>T		.	.	.	.	.	.	.	.	.	.	G	12.25	1.882930	0.33255	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.19669	2.13;2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	N	0.11927	0.2	0.80722	D	1	P	0.44690	0.841	P	0.58820	0.846	T	0.02829	-1.1105	10	0.07644	T	0.81	-26.7718	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1068	Q5VU97	CAHD1_HUMAN	L	1068;1017	ENSP00000360113:V1068L;ENSP00000290039:V1017L	ENSP00000290039:V1017L	V	+	1	0	CACHD1	64916539	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG		0.473	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		18	70	1	0	4.75885e-15	0.00499	5.75762e-15	18	70				
LEPR	3953	broad.mit.edu	37	1	66067536	66067536	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:66067536C>T	ENST00000349533.6	+	10	1481	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	LEPR_ENST00000371059.3_Silent_p.I432I|LEPR_ENST00000344610.8_Silent_p.I432I|LEPR_ENST00000371058.1_Silent_p.I432I|LEPR_ENST00000371060.3_Silent_p.I432I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGTCAATATCAATATCTCAT	0.303																																							uc001dci.2		NA																	0				skin(1)	1						c.(1294-1296)ATC>ATT		leptin receptor isoform 1							77.0	78.0	78.0					1																	66067536		2203	4299	6502	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067536C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1296C>T	1.37:g.66067536C>T						LEPR_uc001dcg.2_Silent_p.I432I|LEPR_uc001dch.2_Silent_p.I432I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.I432I|LEPR_uc001dck.2_Silent_p.I432I	p.I432I	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	10	1498	+			432			Extracellular (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.1296C>T	CCDS631.1																																																																																				0.303	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		21	46	0	0	0	0.008871	0	21	46				
SGIP1	84251	broad.mit.edu	37	1	67206405	67206405	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:67206405G>C	ENST00000371037.4	+	23	2376	c.2299G>C	c.(2299-2301)Ggg>Cgg	p.G767R	SGIP1_ENST00000371036.3_Splice_Site_p.G569R|SGIP1_ENST00000371035.3_Splice_Site_p.G557R|SGIP1_ENST00000435165.2_Splice_Site_p.G272R|SGIP1_ENST00000237247.6_Splice_Site_p.G798R|SGIP1_ENST00000371039.1_Splice_Site_p.G570R	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	767	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGAAAATGGAGGTAATGGAAT	0.313																																							uc001dcr.2		NA																	0				ovary(3)	3						c.(2299-2301)GGG>CGG		SH3-domain GRB2-like (endophilin) interacting							43.0	44.0	44.0					1																	67206405		2203	4294	6497	SO:0001630	splice_region_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67206405G>C	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2299+1G>C	1.37:g.67206405G>C						SGIP1_uc010opd.1_Missense_Mutation_p.G367R|SGIP1_uc001dcs.2_Missense_Mutation_p.G367R|SGIP1_uc001dct.2_Missense_Mutation_p.G369R|SGIP1_uc009wat.2_Missense_Mutation_p.G561R|SGIP1_uc001dcu.2_Missense_Mutation_p.G272R	p.G767R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			23	2516	+			767					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.2299G>C	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007927	0.93287	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.86	5.86	0.93980	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.993;1.0;1.0;1.0;0.995	T	0.35624	-0.9781	10	0.66056	D	0.02	-10.1012	20.5632	0.99335	0.0:0.0:1.0:0.0	.	797;272;369;557;767	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	R	798;570;557;797;770;569;767;272	ENSP00000237247:G798R;ENSP00000360078:G570R;ENSP00000360074:G557R;ENSP00000360075:G569R;ENSP00000360076:G767R;ENSP00000395525:G272R	ENSP00000237247:G798R	G	+	1	0	SGIP1	66978993	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.485000	0.81204	2.937000	0.99478	0.650000	0.86243	GGG		0.313	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Missense_Mutation	11	20	0	0	0	0.008291	0	11	20				
LRRC7	57554	broad.mit.edu	37	1	70484492	70484492	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:70484492G>T	ENST00000035383.5	+	13	1327	c.1297G>T	c.(1297-1299)Ggt>Tgt	p.G433C	LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.G438C|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	433						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAGCCTCGTGGTGATGAAGG	0.388																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1297-1299)GGT>TGT		leucine rich repeat containing 7							94.0	87.0	89.0					1																	70484492		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70484492G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1297G>T	1.37:g.70484492G>T	ENSP00000035383:p.Gly433Cys					LRRC7_uc009wbg.2_5'UTR	p.G433C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			13	1327	+			433					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1297G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878550	0.72294	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.44881	0.91;0.91	6.08	6.08	0.98989	.	0.159345	0.64402	D	0.000018	T	0.28830	0.0715	N	0.19112	0.55	0.80722	D	1	D	0.55172	0.97	P	0.51866	0.682	T	0.08659	-1.0711	10	0.59425	D	0.04	.	12.8087	0.57628	0.0814:0.0:0.9186:0.0	.	433	Q96NW7	LRRC7_HUMAN	C	438;433;256	ENSP00000309245:G438C;ENSP00000035383:G433C	ENSP00000035383:G433C	G	+	1	0	LRRC7	70257080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.349000	0.52217	2.894000	0.99253	0.655000	0.94253	GGT		0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		24	38	1	0	1.55469e-16	0.00333	1.90927e-16	24	38				
ERICH3	127254	broad.mit.edu	37	1	75037660	75037660	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:75037660G>T	ENST00000326665.5	-	14	3952	c.3734C>A	c.(3733-3735)gCc>gAc	p.A1245D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1245	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGATCTTTGGCTGCTAGCTC	0.617																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3733-3735)GCC>GAC		hypothetical protein LOC127254							82.0	75.0	77.0					1																	75037660		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037660G>T																												ENST00000326665.5:c.3734C>A	1.37:g.75037660G>T	ENSP00000322609:p.Ala1245Asp						p.A1245D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3953	-			1245			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3734C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709971	0.30322	.	.	ENSG00000178965	ENST00000326665	T	0.16743	2.32	4.78	1.26	0.21427	.	.	.	.	.	T	0.05823	0.0152	L	0.36672	1.1	0.09310	N	0.999996	D	0.58268	0.982	P	0.52481	0.7	T	0.11690	-1.0577	9	0.12103	T	0.63	-1.7294	3.4251	0.07408	0.1841:0.1368:0.5399:0.1393	.	1245	Q5RHP9	CA173_HUMAN	D	1245	ENSP00000322609:A1245D	ENSP00000322609:A1245D	A	-	2	0	C1orf173	74810248	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.037000	0.13840	0.426000	0.26116	0.561000	0.74099	GCC		0.617	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			52	87	1	0	4.01344e-20	0.00361	5.14813e-20	52	87				
ELTD1	64123	broad.mit.edu	37	1	79358874	79358874	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:79358874C>T	ENST00000370742.3	-	13	1813	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAGATTAACCTGGAAAAAG	0.303																																							uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(1750-1752)GTT>ATT		EGF, latrophilin and seven transmembrane domain							56.0	51.0	53.0					1																	79358874		1798	4057	5855	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79358874C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1750-1G>A	1.37:g.79358874C>T							p.V584I	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	13	1906	-			584			Helical; Name=5; (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1750G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749856	0.69533	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.48836	0.8;0.8	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.37750	1.13	0.80722	D	1	B	0.30664	0.289	B	0.37888	0.26	T	0.13656	-1.0501	9	.	.	.	.	18.9302	0.92561	0.0:1.0:0.0:0.0	.	584	Q9HBW9	ELTD1_HUMAN	I	584;42	ENSP00000359778:V584I;ENSP00000383813:V42I	.	V	-	1	0	ELTD1	79131462	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	7.487000	0.81328	2.469000	0.83416	0.655000	0.94253	GTT		0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	13	23	0	0	0	0.001368	0	13	23				
GBP5	115362	broad.mit.edu	37	1	89728468	89728468	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:89728468C>A	ENST00000370459.3	-	9	1490	c.1363G>T	c.(1363-1365)Gct>Tct	p.A455S	GBP5_ENST00000343435.5_Splice_Site_p.A455S|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	455						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTTCTTCAGCCTAGCAACCC	0.408																																							uc001dnc.2		NA																	0				ovary(1)	1						c.(1363-1365)GCT>TCT		guanylate-binding protein 5							70.0	71.0	71.0					1																	89728468		2203	4300	6503	SO:0001630	splice_region_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89728468C>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1363-1G>T	1.37:g.89728468C>A						GBP5_uc001dnd.2_Missense_Mutation_p.A455S|GBP5_uc001dne.1_Missense_Mutation_p.A455S	p.A455S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	10	1900	-			455					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1363G>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243086	0.58995	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02837	4.14;4.14;4.14	4.86	4.86	0.63082	Guanylate-binding protein, C-terminal (3);	0.138224	0.47852	D	0.000220	T	0.07863	0.0197	M	0.72353	2.195	0.31833	N	0.624454	D	0.60575	0.988	D	0.68039	0.955	T	0.00731	-1.1590	10	0.51188	T	0.08	-16.0228	16.0414	0.80687	0.0:1.0:0.0:0.0	.	455	Q96PP8	GBP5_HUMAN	S	455	ENSP00000340396:A455S;ENSP00000359488:A455S;ENSP00000403010:A455S	ENSP00000340396:A455S	A	-	1	0	GBP5	89501056	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	3.408000	0.52651	2.721000	0.93114	0.644000	0.83932	GCT		0.408	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	Missense_Mutation	10	60	1	0	0.000673444	0.008291	0.00069398	10	60				
BRDT	676	broad.mit.edu	37	1	92430257	92430257	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:92430257C>T	ENST00000362005.3	+	4	684	c.266C>T	c.(265-267)gCg>gTg	p.A89V	BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Missense_Mutation_p.A89V|BRDT_ENST00000370389.2_Missense_Mutation_p.A16V|BRDT_ENST00000402388.1_Missense_Mutation_p.A89V	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	89	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.		A -> V (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.A89V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAATATTATGCGAAGGCTTCA	0.274																																							uc001dok.3		NA																	1	Substitution - Missense(1)	p.A89V(1)	stomach(1)	stomach(2)|ovary(1)|lung(1)	4						c.(265-267)GCG>GTG		testis-specific bromodomain protein							32.0	35.0	34.0					1																	92430257		2191	4274	6465	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430257C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.266C>T	1.37:g.92430257C>T	ENSP00000354568:p.Ala89Val					BRDT_uc001dol.3_Missense_Mutation_p.A89V|BRDT_uc010osz.1_Missense_Mutation_p.A89V|BRDT_uc009wdf.2_Missense_Mutation_p.A16V|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Missense_Mutation_p.A89V	p.A89V	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	615	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	89		A -> V (in a gastric adenocarcinoma sample; somatic mutation).	Bromo 1.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.266C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	c	10.21	1.287232	0.23478	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.67	0.509	0.16977	Bromodomain (6);Bromodomain, conserved site (1);	0.714671	0.13070	N	0.416202	T	0.03871	0.0109	N	0.16743	0.435	0.21355	N	0.999715	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43180	-0.9407	10	0.21014	T	0.42	-1.6556	0.7142	0.00929	0.2379:0.2249:0.1162:0.421	.	89;89	B7Z890;Q58F21	.;BRDT_HUMAN	V	89;16;89;89;89;89;89;89;89;89;89;16;89	ENSP00000354568:A89V;ENSP00000359416:A16V;ENSP00000387822:A89V;ENSP00000396351:A89V;ENSP00000416714:A89V;ENSP00000400002:A89V;ENSP00000410587:A89V;ENSP00000404969:A89V;ENSP00000414349:A89V;ENSP00000447394:A89V;ENSP00000446599:A16V;ENSP00000384051:A89V	ENSP00000354568:A89V	A	+	2	0	BRDT	92202845	0.997000	0.39634	0.637000	0.29366	0.749000	0.42624	0.337000	0.19841	-0.440000	0.07211	-2.682000	0.00141	GCG		0.274	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		24	45	0	0	0	0.00278	0	24	45				
FNBP1L	54874	broad.mit.edu	37	1	94000394	94000394	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:94000394G>T	ENST00000271234.7	+	9	1070	c.919G>T	c.(919-921)Ggg>Tgg	p.G307W	FNBP1L_ENST00000260506.8_Missense_Mutation_p.G307W|FNBP1L_ENST00000604705.1_Missense_Mutation_p.G307W|FNBP1L_ENST00000370256.4_Missense_Mutation_p.G307W|FNBP1L_ENST00000370253.2_Missense_Mutation_p.G307W	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	307	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ACAGGAGAGTGGGAAGATGGA	0.403																																							uc001dpw.2		NA																	0					0						c.(919-921)GGG>TGG		formin binding protein 1-like isoform 1							47.0	44.0	45.0					1																	94000394		1851	4099	5950	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:94000394G>T		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.919G>T	1.37:g.94000394G>T	ENSP00000271234:p.Gly307Trp					FNBP1L_uc001dpv.2_Missense_Mutation_p.G307W|FNBP1L_uc010otk.1_Missense_Mutation_p.G127W	p.G307W	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	9	919	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	307			Induction of membrane tubulation (By similarity).|Interaction with CDC42.		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.919G>T	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677979	0.68042	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.55760	0.52;0.5;0.62;0.62	5.59	4.67	0.58626	.	0.476302	0.25086	N	0.033257	T	0.39436	0.1078	L	0.59436	1.845	0.42964	D	0.994418	P;D;P	0.53462	0.864;0.96;0.868	B;P;P	0.48571	0.365;0.513;0.582	T	0.54241	-0.8323	10	0.72032	D	0.01	-0.5513	3.7804	0.08679	0.1662:0.0:0.6085:0.2253	.	127;307;307	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	W	307;307;307;307;174	ENSP00000359278:G307W;ENSP00000271234:G307W;ENSP00000260506:G307W;ENSP00000359275:G307W	ENSP00000260506:G307W	G	+	1	0	FNBP1L	93772982	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.719000	0.61937	2.617000	0.88574	0.585000	0.79938	GGG		0.403	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		3	4	1	0	0.004672	0.004672	0.00477431	3	4				
ABCA4	24	broad.mit.edu	37	1	94467521	94467521	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:94467521C>A	ENST00000370225.3	-	45	6261	c.6175G>T	c.(6175-6177)Ggc>Tgc	p.G2059C	ABCA4_ENST00000535881.1_Missense_Mutation_p.G178C|ABCA4_ENST00000536513.1_Missense_Mutation_p.G329C|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2059	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> A. {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACAGTCAGGCCCAGGCTCTTA	0.552																																							uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(6175-6177)GGC>TGC		ATP-binding cassette, sub-family A member 4							76.0	75.0	75.0					1																	94467521		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94467521C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6175G>T	1.37:g.94467521C>A	ENSP00000359245:p.Gly2059Cys					ABCA4_uc001dqi.1_Missense_Mutation_p.G178C	p.G2059C	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	45	6279	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2059		G -> A.	ABC transporter 2.|Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6175G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034481	0.93575	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.97598	-4.45;-4.45;-4.45	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	D	0.99548	1.0965	10	0.87932	D	0	.	19.7124	0.96100	0.0:1.0:0.0:0.0	.	178;2059	B4DX12;P78363	.;ABCA4_HUMAN	C	851;2059;329;178	ENSP00000359245:G2059C;ENSP00000439707:G329C;ENSP00000443203:G178C	ENSP00000359245:G2059C	G	-	1	0	ABCA4	94240109	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.699000	0.84547	2.662000	0.90505	0.655000	0.94253	GGC		0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		26	61	1	0	1.74197e-06	0.00632	1.86776e-06	26	61				
RWDD3	25950	broad.mit.edu	37	1	95710108	95710108	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:95710108C>G	ENST00000370202.4	+	2	503	c.427C>G	c.(427-429)Ctt>Gtt	p.L143V	RWDD3_ENST00000263893.6_Missense_Mutation_p.L143V|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.L128V|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	143					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GTGGATAACTCTTTTGCATTT	0.423																																							uc009wdu.2		NA																	0				ovary(1)	1						c.(427-429)CTT>GTT		RWD domain containing 3 isoform a							129.0	122.0	124.0					1																	95710108		1944	4122	6066	SO:0001583	missense	25950					cytoplasm|nucleus	protein binding	g.chr1:95710108C>G	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.427C>G	1.37:g.95710108C>G	ENSP00000359221:p.Leu143Val					RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.L128V|RWDD3_uc009wdt.2_Missense_Mutation_p.L143V|RWDD3_uc001drf.3_Missense_Mutation_p.L143V|RWDD3_uc001drh.3_Missense_Mutation_p.L128V|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.L143V	p.L143V	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	2	503	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	143					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	c.427C>G	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218286	0.58560	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.35789	1.33;1.29;1.32	5.38	5.38	0.77491	.	0.134339	0.49916	D	0.000124	T	0.48295	0.1492	L	0.55481	1.735	0.45747	D	0.998646	D;P;D;D;D	0.89917	1.0;0.929;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.994;0.485;0.996;0.996;0.998	T	0.15867	-1.0422	10	0.28530	T	0.3	-13.1397	19.495	0.95069	0.0:1.0:0.0:0.0	.	128;143;143;128;143	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	V	143;128;143	ENSP00000359221:L143V;ENSP00000397398:L128V;ENSP00000263893:L143V	ENSP00000263893:L143V	L	+	1	0	RWDD3	95482696	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	3.403000	0.52615	2.685000	0.91497	0.650000	0.86243	CTT		0.423	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		9	132	0	0	0	0.006214	0	9	132				
PLPPR4	9890	broad.mit.edu	37	1	99764620	99764620	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:99764620G>A	ENST00000370185.3	+	4	1065	c.568G>A	c.(568-570)Gct>Act	p.A190T	LPPR4_ENST00000457765.1_Missense_Mutation_p.A190T|LPPR4_ENST00000370184.1_Missense_Mutation_p.A32T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		190					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCTCTACAGCTCTCATTAC	0.368																																							uc001dse.2		NA																	0				ovary(3)	3						c.(568-570)GCT>ACT		plasticity related gene 1							152.0	137.0	142.0					1																	99764620		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99764620G>A																												ENST00000370185.3:c.568G>A	1.37:g.99764620G>A	ENSP00000359204:p.Ala190Thr					LPPR4_uc010oue.1_Missense_Mutation_p.A190T	p.A190T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	4	674	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	190			Helical; (Potential).		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.568G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327416	0.81690	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.55413	0.52;0.52;0.52	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.52573	1.65	0.54753	D	0.999989	P;D	0.89917	0.832;1.0	B;D	0.97110	0.434;1.0	T	0.47420	-0.9119	10	0.14656	T	0.56	-20.3399	19.5802	0.95464	0.0:0.0:1.0:0.0	.	190;190	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	T	190;190;190;32	ENSP00000359204:A190T;ENSP00000394913:A190T;ENSP00000359203:A32T	ENSP00000263178:A190T	A	+	1	0	RP4-788L13.1	99537208	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.823000	0.86660	2.712000	0.92718	0.650000	0.86243	GCT		0.368	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			18	62	0	0	0	0.007413	0	18	62				
DBT	1629	broad.mit.edu	37	1	100672042	100672042	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:100672042C>A	ENST00000370132.4	-	9	1181	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	390					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CCTGTAAGATCAGTGGTGCTG	0.393																																							uc001dta.2		NA																	0				pancreas(1)	1						c.(1168-1170)GAT>TAT		dihydrolipoamide branched chain transacylase							174.0	176.0	175.0					1																	100672042		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100672042C>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.1168G>T	1.37:g.100672042C>A	ENSP00000359151:p.Asp390Tyr					DBT_uc010oug.1_Missense_Mutation_p.D209Y	p.D390Y	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	9	1201	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	390					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.1168G>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182552	0.78677	.	.	ENSG00000137992	ENST00000543138;ENST00000370132	T	0.52057	0.68	5.54	5.54	0.83059	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.138265	0.64402	D	0.000005	T	0.79070	0.4384	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.86018	0.1505	10	0.87932	D	0	-19.8602	19.8419	0.96692	0.0:1.0:0.0:0.0	.	209;390	F5H1F9;P11182	.;ODB2_HUMAN	Y	209;390	ENSP00000359151:D390Y	ENSP00000359151:D390Y	D	-	1	0	DBT	100444630	1.000000	0.71417	0.303000	0.25071	0.951000	0.60555	5.609000	0.67661	2.767000	0.95098	0.561000	0.74099	GAT		0.393	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		87	225	1	0	1.31969e-37	0.00361	1.91599e-37	87	225				
VCAM1	7412	broad.mit.edu	37	1	101200239	101200241	+	Missense_Mutation	TNP	CCA	CCA	AAT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:101200239_101200241CCA>AAT	ENST00000294728.2	+	8	2075_2077	c.1974_1976CCA>AAT	c.(1972-1977)gcCCAg>gcAATg	p.Q659M	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q597M|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q567M|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q460M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	659	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCCGAAAGGCCCAGTTGAAGGAT	0.394																																							uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(1972-1977)GCCCAG>GCAATG		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)																																			SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101200239_101200241CCA>AAT	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1974_1976CCA>AAT	1.37:g.101200239CCA>AAT	ENSP00000294728:p.Gln659Met					VCAM1_uc001dtj.2_Missense_Mutation_p.Q567M|VCAM1_uc010ouj.1_Missense_Mutation_p.Q597M	p.Q659M	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	8	2094_2096	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	659			Ig-like C2-type 7.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	TNP	ENST00000294728.2	37	c.1974_1976CCA>AAT	CCDS773.1																																																																																				0.394	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		16	56	0	0	0	0.004672	0	16	56				
COL11A1	1301	broad.mit.edu	37	1	103355016	103355016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:103355016C>A	ENST00000370096.3	-	59	4771	c.4459G>T	c.(4459-4461)Gat>Tat	p.D1487Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.D1371Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1499Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1448Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1487	Collagen-like 7.|Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCACCCCATCCCCTTTTGCT	0.433																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4459-4461)GAT>TAT		alpha 1 type XI collagen isoform A							82.0	81.0	81.0					1																	103355016		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355016C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4459G>T	1.37:g.103355016C>A	ENSP00000359114:p.Asp1487Tyr					COL11A1_uc001duk.2_Missense_Mutation_p.D683Y|COL11A1_uc001dum.2_Missense_Mutation_p.D1499Y|COL11A1_uc001dun.2_Missense_Mutation_p.D1448Y|COL11A1_uc009weh.2_Missense_Mutation_p.D1371Y	p.D1487Y	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4777	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1487			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4459G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679301	0.68042	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.998	D	0.98982	1.0805	10	0.87932	D	0	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	1371;1448;1499;1487;707	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Y	1487;1499;1448;707;1371	ENSP00000359114:D1487Y;ENSP00000351163:D1499Y;ENSP00000302551:D1448Y;ENSP00000426533:D1371Y	ENSP00000302551:D1448Y	D	-	1	0	COL11A1	103127604	1.000000	0.71417	0.831000	0.32960	0.888000	0.51559	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GAT		0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	72	1	0	1.77063e-15	0.005443	2.15823e-15	24	72				
GPR61	83873	broad.mit.edu	37	1	110086457	110086457	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:110086457C>A	ENST00000527748.1	+	2	1496	c.813C>A	c.(811-813)gcC>gcA	p.A271A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCGGGGGCCCCCCAGACCA	0.657																																							uc001dxy.2		NA																	0				central_nervous_system(2)	2						c.(811-813)GCC>GCA		G protein-coupled receptor 61							35.0	42.0	40.0					1																	110086457		2202	4300	6502	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086457C>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.813C>A	1.37:g.110086457C>A							p.A271A	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1496	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	271			Cytoplasmic (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.813C>A	CCDS801.1																																																																																				0.657	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			57	101	1	0	2.47907e-22	0.00361	3.25668e-22	57	101				
KCNA10	3744	broad.mit.edu	37	1	111061349	111061349	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:111061349C>T	ENST00000369771.2	-	1	448	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	21					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TCTTGGATTTCATCTGAATTA	0.522																																							uc001dzt.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(61-63)GAA>AAA		potassium voltage-gated channel, shaker-related							32.0	32.0	32.0					1																	111061349		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061349C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.61G>A	1.37:g.111061349C>T	ENSP00000358786:p.Glu21Lys						p.E21K	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	449	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	21						Missense_Mutation	SNP	ENST00000369771.2	37	c.61G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209516	0.79240	.	.	ENSG00000143105	ENST00000369771	D	0.96992	-4.2	5.63	5.63	0.86233	.	1.207760	0.05608	N	0.577552	D	0.93347	0.7879	L	0.51422	1.61	0.37572	D	0.919478	P	0.42456	0.78	B	0.38106	0.265	D	0.86285	0.1670	10	0.54805	T	0.06	.	14.9899	0.71377	0.0:0.8469:0.153:0.0	.	21	Q16322	KCA10_HUMAN	K	21	ENSP00000358786:E21K	ENSP00000358786:E21K	E	-	1	0	KCNA10	110862872	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.507000	0.66999	2.644000	0.89710	0.655000	0.94253	GAA		0.522	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		4	55	0	0	0	0.009096	0	4	55				
LINGO4	339398	broad.mit.edu	37	1	151774557	151774557	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:151774557G>C	ENST00000368820.3	-	2	1561	c.624C>G	c.(622-624)gcC>gcG	p.A208A		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	208						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAAGCCTTAGGGCCACTAGTG	0.642																																							uc001ezf.1		NA																	0				large_intestine(1)	1						c.(622-624)GCC>GCG		leucine rich repeat and Ig domain containing 4							39.0	46.0	43.0					1																	151774557		2202	4300	6502	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774557G>C		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.624C>G	1.37:g.151774557G>C							p.A208A	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	814	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		208			Extracellular (Potential).			Silent	SNP	ENST00000368820.3	37	c.624C>G	CCDS30855.1																																																																																				0.642	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		6	135	0	0	0	0.001168	0	6	135				
RPTN	126638	broad.mit.edu	37	1	152129352	152129352	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:152129352G>T	ENST00000316073.3	-	3	287	c.223C>A	c.(223-225)Ctc>Atc	p.L75I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	75	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCAACAAGAGGTACTCATGA	0.458																																							uc001ezs.1		NA																	0					0						c.(223-225)CTC>ATC		repetin							220.0	184.0	195.0					1																	152129352		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129352G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.223C>A	1.37:g.152129352G>T	ENSP00000317895:p.Leu75Ile						p.L75I	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	288	-			75			S-100-like (By similarity).|EF-hand 2.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.223C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276898	0.59758	.	.	ENSG00000215853	ENST00000316073	T	0.17691	2.26	5.03	4.1	0.47936	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.12817	0.0311	L	0.48986	1.54	0.25134	N	0.990545	D	0.56968	0.978	P	0.51297	0.665	T	0.04930	-1.0917	9	0.56958	D	0.05	-4.9427	10.728	0.46079	0.0:0.0:0.8091:0.1909	.	75	Q6XPR3	RPTN_HUMAN	I	75	ENSP00000317895:L75I	ENSP00000317895:L75I	L	-	1	0	RPTN	150395976	0.999000	0.42202	0.862000	0.33874	0.657000	0.38888	2.456000	0.44997	1.089000	0.41292	0.542000	0.68232	CTC		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		101	115	1	0	1.59803e-59	0.00361	2.4585e-59	101	115				
FLG	2312	broad.mit.edu	37	1	152278877	152278877	+	Missense_Mutation	SNP	G	G	T	rs540837407		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:152278877G>T	ENST00000368799.1	-	3	8520	c.8485C>A	c.(8485-8487)Cgt>Agt	p.R2829S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2829	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCCCACGGGAGGCATCA	0.572									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8485-8487)CGT>AGT		filaggrin							181.0	269.0	240.0					1																	152278877		2151	4296	6447	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278877G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8485C>A	1.37:g.152278877G>T	ENSP00000357789:p.Arg2829Ser						p.R2829S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8521	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2829			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8485C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391323	0.25118	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01705	4.68	3.12	3.12	0.35913	.	.	.	.	.	T	0.00875	0.0029	L	0.60455	1.87	0.09310	N	1	B	0.33171	0.4	B	0.15484	0.013	T	0.42241	-0.9463	9	0.66056	D	0.02	-9.0E-4	10.436	0.44435	0.0:0.0:1.0:0.0	.	2829	P20930	FILA_HUMAN	S	2829;91	ENSP00000357789:R2829S	ENSP00000357786:R91S	R	-	1	0	FLG	150545501	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.470000	0.22084	1.680000	0.50976	0.306000	0.20318	CGT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		142	368	1	0	8.87325e-63	0.00361	1.37592e-62	142	368				
SPRR2D	6703	broad.mit.edu	37	1	153012673	153012673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:153012673G>T	ENST00000368757.1	-	2	430	c.150C>A	c.(148-150)tgC>tgA	p.C50*	SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.C50*|SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.C50*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.C50*			P22532	SPR2D_HUMAN	small proline-rich protein 2D	50					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTCTGCTGGCACTGCTGAG	0.592																																							uc001fbb.2		NA																	0					0						c.(148-150)TGC>TGA		small proline-rich protein 2D							201.0	186.0	191.0					1																	153012673		2203	4297	6500	SO:0001587	stop_gained	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012673G>T	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.150C>A	1.37:g.153012673G>T	ENSP00000357746:p.Cys50*					SPRR2D_uc009wnz.2_RNA	p.C50*	NM_006945	NP_008876	P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	210	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		50					A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Nonsense_Mutation	SNP	ENST00000368757.1	37	c.150C>A	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925317	0.92319	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	.	.	.	3.39	3.39	0.38822	.	2.512540	0.01909	N	0.039731	.	.	.	.	.	.	0.38312	D	0.943276	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7047	0.45948	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000353542:C50X	C	-	3	2	SPRR2D	151279297	0.813000	0.29090	0.984000	0.44739	0.726000	0.41606	0.554000	0.23407	1.637000	0.50538	0.449000	0.29647	TGC		0.592	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			181	277	1	0	8.87325e-63	0.00361	1.37592e-62	181	277				
ATP8B2	57198	broad.mit.edu	37	1	154309845	154309845	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:154309845A>G	ENST00000368489.3	+	12	958	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.M287V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.M306V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	306					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGTTTGCATGGGGGTGAT	0.542																																							uc001fey.1		NA																	0				ovary(1)|skin(1)	2						c.(916-918)ATG>GTG		ATPase, class I, type 8B, member 2 isoform b							191.0	175.0	180.0					1																	154309845		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309845A>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.958A>G	1.37:g.154309845A>G	ENSP00000357475:p.Met320Val					ATP8B2_uc001few.2_Missense_Mutation_p.M287V|ATP8B2_uc001fex.2_Missense_Mutation_p.M320V	p.M306V	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		11	1105	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		306			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.916A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533350	0.45073	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.88896	-2.44;-2.44;-2.44	5.51	5.51	0.81932	ATPase, P-type, ATPase-associated domain (1);	0.044961	0.85682	D	0.000000	D	0.84023	0.5381	M	0.70595	2.14	0.53688	D	0.999975	B;B;B	0.25521	0.034;0.128;0.002	B;B;B	0.25405	0.038;0.06;0.006	D	0.83665	0.0163	10	0.49607	T	0.09	.	14.6072	0.68489	1.0:0.0:0.0:0.0	.	306;320;287	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	V	287;320;306	ENSP00000357472:M287V;ENSP00000357475:M320V;ENSP00000340448:M306V	ENSP00000340448:M306V	M	+	1	0	ATP8B2	152576469	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.048000	0.71046	2.317000	0.78254	0.459000	0.35465	ATG		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		92	152	0	0	0	0.00361	0	92	152				
KCNN3	3782	broad.mit.edu	37	1	154744815	154744815	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:154744815G>A	ENST00000271915.4	-	3	1399	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KCNN3_ENST00000358505.2_Missense_Mutation_p.R49C|KCNN3_ENST00000361147.4_Missense_Mutation_p.R57C	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	367					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.R362C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TACAGGATGCGCTCGTAGGTC	0.587																																							uc001ffp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1084-1086)CGC>TGC		small conductance calcium-activated potassium							53.0	47.0	49.0					1																	154744815		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744815G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1084C>T	1.37:g.154744815G>A	ENSP00000271915:p.Arg362Cys					KCNN3_uc001ffo.2_Missense_Mutation_p.R57C|KCNN3_uc009wox.1_Missense_Mutation_p.R362C	p.R362C	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1398	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		367					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1084C>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070769	0.76301	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98996	-5.31;-4.17;-5.31	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.56097	D	0.000033	D	0.99468	0.9811	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.98485	1.0607	10	0.87932	D	0	-25.3925	17.4259	0.87526	0.0:0.0:1.0:0.0	.	368;367;57	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	C	57;362;49	ENSP00000354764:R57C;ENSP00000271915:R362C;ENSP00000351295:R49C	ENSP00000271915:R362C	R	-	1	0	KCNN3	153011439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.226000	0.65299	2.415000	0.81967	0.561000	0.74099	CGC		0.587	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	53	0	0	0	0.000602	0	5	53				
ASH1L	55870	broad.mit.edu	37	1	155451617	155451617	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:155451617T>G	ENST00000368346.3	-	3	1683	c.1044A>C	c.(1042-1044)ccA>ccC	p.P348P	ASH1L_ENST00000392403.3_Silent_p.P348P|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	348					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCACTAAACCTGGAACAATAC	0.393																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(1042-1044)CCA>CCC		absent, small, or homeotic 1-like							201.0	203.0	202.0					1																	155451617		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155451617T>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1044A>C	1.37:g.155451617T>G						ASH1L_uc001fkt.2_Silent_p.P348P|ASH1L_uc009wqr.1_Silent_p.P348P	p.P348P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	1524	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		348					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.1044A>C																																																																																					0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		134	184	0	0	0	0.00361	0	134	184				
FCRL3	115352	broad.mit.edu	37	1	157665859	157665859	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:157665859A>G	ENST00000368184.3	-	7	1394	c.1103T>C	c.(1102-1104)cTc>cCc	p.L368P	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.L368P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	368	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCACGTGCTGAGGATGGGGCT	0.532																																							uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.(1102-1104)CTC>CCC		Fc receptor-like 3 precursor							118.0	104.0	108.0					1																	157665859		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665859A>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1103T>C	1.37:g.157665859A>G	ENSP00000357167:p.Leu368Pro					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L368P|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.L94P|FCRL3_uc001frc.1_Missense_Mutation_p.L368P	p.L368P	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			7	1395	-	all_hematologic(112;0.0378)		368			Ig-like C2-type 4.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1103T>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250645	0.22880	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11821	2.74;2.74	5.57	-1.57	0.08506	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02929	0.0087	N	0.26162	0.8	0.28427	N	0.917448	B;B;B	0.33549	0.179;0.417;0.148	B;B;B	0.40982	0.161;0.345;0.1	T	0.44667	-0.9313	9	0.31617	T	0.26	.	1.3792	0.02227	0.3161:0.1593:0.0903:0.4343	.	368;273;368	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	P	368	ENSP00000357169:L368P;ENSP00000357167:L368P	ENSP00000292392:L368P	L	-	2	0	FCRL3	155932483	0.345000	0.24835	0.814000	0.32528	0.023000	0.10783	0.445000	0.21677	0.033000	0.15463	-0.327000	0.08410	CTC		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		11	94	0	0	0	0.001368	0	11	94				
MNDA	4332	broad.mit.edu	37	1	158812024	158812024	+	Silent	SNP	C	C	A	rs562131738		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:158812024C>A	ENST00000368141.4	+	2	342	c.81C>A	c.(79-81)tcC>tcA	p.S27S	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	27	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAATTAAGTCCTTACTGGCCT	0.338																																							uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(79-81)TCC>TCA		myeloid cell nuclear differentiation antigen							79.0	78.0	78.0					1																	158812024		2202	4299	6501	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812024C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.81C>A	1.37:g.158812024C>A							p.S27S	NM_002432	NP_002423	P41218	MNDA_HUMAN			2	281	+	all_hematologic(112;0.0378)		27			DAPIN.			Silent	SNP	ENST00000368141.4	37	c.81C>A	CCDS1177.1																																																																																				0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		28	47	1	0	4.7796e-09	0.004656	5.29866e-09	28	47				
ADAMTS4	9507	broad.mit.edu	37	1	161163875	161163875	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:161163875G>T	ENST00000367996.5	-	5	1826	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	466	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GGGCAGCACAGGGCGGCGGCA	0.652																																							uc001fyt.3		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1396-1398)CCC>CCA		ADAM metallopeptidase with thrombospondin type 1							57.0	64.0	62.0					1																	161163875		2203	4299	6502	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163875G>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1398C>A	1.37:g.161163875G>T							p.P466P	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1826	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		466			Disintegrin.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.1398C>A	CCDS1223.1																																																																																				0.652	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		52	95	1	0	2.27459e-33	0.00361	3.24469e-33	52	95				
NUF2	83540	broad.mit.edu	37	1	163315606	163315606	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:163315606G>C	ENST00000271452.3	+	11	1225	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.E316Q	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	316	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TATCTTAAAGGAGGTTTGTAT	0.318																																							uc001gcq.1		NA																	0				ovary(3)|skin(1)	4						c.(946-948)GAG>CAG		NUF2, NDC80 kinetochore complex component							59.0	61.0	60.0					1																	163315606		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163315606G>C	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.946G>C	1.37:g.163315606G>C	ENSP00000271452:p.Glu316Gln					NUF2_uc001gcp.2_Missense_Mutation_p.E316Q|NUF2_uc001gcr.1_Missense_Mutation_p.E316Q|NUF2_uc009wvc.1_Intron	p.E316Q	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			11	1246	+	all_hematologic(923;0.101)		316			Interaction with the N-terminus of NDC80.|Potential.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.946G>C	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599439	0.66332	.	.	ENSG00000143228	ENST00000367900;ENST00000271452	T;T	0.37915	1.17;1.17	4.88	3.95	0.45737	.	0.046935	0.85682	D	0.000000	T	0.42517	0.1206	M	0.61703	1.905	0.45634	D	0.998568	D	0.89917	1.0	D	0.83275	0.996	T	0.31752	-0.9932	9	0.41790	T	0.15	-19.5792	9.2257	0.37405	0.1007:0.0:0.8993:0.0	.	316	Q9BZD4	NUF2_HUMAN	Q	316	ENSP00000356875:E316Q;ENSP00000271452:E316Q	ENSP00000271452:E316Q	E	+	1	0	NUF2	161582230	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.669000	0.54561	2.518000	0.84900	0.591000	0.81541	GAG		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		13	47	0	0	0	0.001855	0	13	47				
MAEL	84944	broad.mit.edu	37	1	166959053	166959053	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:166959053C>T	ENST00000367872.4	+	2	456	c.212C>T	c.(211-213)cCc>cTc	p.P71L	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	71					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GACCCTGGGCCCTCAGAGAAG	0.507																																							uc001gdy.1		NA																	0				skin(1)	1						c.(211-213)CCC>CTC		maelstrom homolog							27.0	32.0	30.0					1																	166959053		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166959053C>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.212C>T	1.37:g.166959053C>T	ENSP00000356846:p.Pro71Leu					MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	p.P71L	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			2	283	+			71			HMG box.		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.212C>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722523	0.30503	.	.	ENSG00000143194	ENST00000367872	T	0.42513	0.97	5.18	5.18	0.71444	Domain of unknown function DUF1898 (1);	0.231705	0.30723	N	0.009011	T	0.16428	0.0395	N	0.19112	0.55	0.80722	D	1	B	0.23442	0.085	B	0.19666	0.026	T	0.04090	-1.0978	10	0.37606	T	0.19	.	14.1965	0.65675	0.0:1.0:0.0:0.0	.	71	Q96JY0	MAEL_HUMAN	L	71	ENSP00000356846:P71L	ENSP00000356846:P71L	P	+	2	0	MAEL	165225677	.	.	0.978000	0.43139	0.355000	0.29361	.	.	2.418000	0.82041	0.467000	0.42956	CCC		0.507	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		37	34	0	0	0	0.005524	0	37	34				
PRRC2C	23215	broad.mit.edu	37	1	171491391	171491391	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:171491391A>T	ENST00000338920.4	+	7	1057	c.820A>T	c.(820-822)Aca>Tca	p.T274S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.T276S|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T274S|RNU6-773P_ENST00000364256.1_RNA|PRRC2C_ENST00000367742.3_Missense_Mutation_p.T276S	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	274					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TTTATCTGAAACAAACAAGTA	0.363																																							uc010pmg.1		NA																	0					0						c.(820-822)ACA>TCA		HBxAg transactivated protein 2							79.0	78.0	78.0					1																	171491391		2203	4299	6502	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171491391A>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.820A>T	1.37:g.171491391A>T	ENSP00000343629:p.Thr274Ser					BAT2L2_uc001ghr.1_Missense_Mutation_p.T276S	p.T274S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			7	1086	+			274					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.820A>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.661971	0.29515	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.01705	4.68;4.68;4.68;4.68	5.84	-1.11	0.09840	.	0.743675	0.11418	U	0.566119	T	0.00271	0.0008	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.16396	0.017;0.002	B;B	0.18561	0.022;0.004	T	0.41324	-0.9515	10	0.06365	T	0.9	.	3.3046	0.06996	0.3618:0.146:0.3911:0.1012	.	274;276	Q9Y520-4;E7EPN9	.;.	S	276;274;274;276;274;30;32	ENSP00000375928:T276S;ENSP00000410219:T274S;ENSP00000356716:T276S;ENSP00000343629:T274S	ENSP00000343629:T274S	T	+	1	0	PRRC2C	169758015	0.814000	0.29104	0.966000	0.40874	0.739000	0.42172	0.299000	0.19138	-0.429000	0.07329	-1.162000	0.01777	ACA		0.363	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		7	93	0	0	0	0.004482	0	7	93				
TNN	63923	broad.mit.edu	37	1	175046886	175046886	+	Missense_Mutation	SNP	G	G	T	rs201940821		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:175046886G>T	ENST00000239462.4	+	2	445	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	111					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R111L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCTGGCCCGGGTGAAGAAG	0.582																																							uc001gkl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(331-333)CGG>CTG		tenascin N precursor							53.0	56.0	55.0					1																	175046886		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046886G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.332G>T	1.37:g.175046886G>T	ENSP00000239462:p.Arg111Leu					TNN_uc010pmx.1_Missense_Mutation_p.R111L	p.R111L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	445	+		Breast(1374;0.000962)	111					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.332G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986610	0.93106	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.45276	0.9	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.80183	2.485	0.50632	D	0.99988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72564	-0.4255	10	0.87932	D	0	.	19.0266	0.92934	0.0:0.0:1.0:0.0	.	111;111	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	111	ENSP00000239462:R111L	ENSP00000239462:R111L	R	+	2	0	TNN	173313509	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.187000	0.72039	2.600000	0.87896	0.655000	0.94253	CGG		0.582	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		25	55	1	0	2.12542e-12	0.00632	2.47965e-12	25	55				
TNN	63923	broad.mit.edu	37	1	175086186	175086186	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:175086186C>T	ENST00000239462.4	+	10	2344	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	744	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCCAAGGAC	0.632																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2230-2232)TCT>TTT		tenascin N precursor							85.0	81.0	82.0					1																	175086186		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086186C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2231C>T	1.37:g.175086186C>T	ENSP00000239462:p.Ser744Phe						p.S744F	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2344	+		Breast(1374;0.000962)	744			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2231C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004991	0.74932	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58652	0.32	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131393	0.51477	D	0.000100	T	0.80949	0.4722	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84692	0.0723	10	0.87932	D	0	.	17.2488	0.87035	0.0:1.0:0.0:0.0	.	744	Q9UQP3	TENN_HUMAN	F	744;567	ENSP00000239462:S744F	ENSP00000239462:S744F	S	+	2	0	TNN	173352809	1.000000	0.71417	0.984000	0.44739	0.530000	0.34684	6.585000	0.74062	2.677000	0.91161	0.655000	0.94253	TCT		0.632	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	196	0	0	0	0.004482	0	9	196				
PAPPA2	60676	broad.mit.edu	37	1	176526309	176526309	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:176526309G>T	ENST00000367662.3	+	2	2015	c.851G>T	c.(850-852)cGg>cTg	p.R284L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R284L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	284					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCCCCGGGAGGCGTTC	0.572																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(850-852)CGG>CTG		pappalysin 2 isoform 1							23.0	23.0	23.0					1																	176526309		1935	4147	6082	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526309G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.851G>T	1.37:g.176526309G>T	ENSP00000356634:p.Arg284Leu					PAPPA2_uc001gky.1_Missense_Mutation_p.R284L|PAPPA2_uc009www.2_RNA	p.R284L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	2015	+			284					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.851G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544681	0.86022	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73258	-0.73;-0.73	4.58	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.159135	0.38381	N	0.001709	D	0.83862	0.5346	M	0.81942	2.565	0.42395	D	0.992545	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.86218	0.1629	10	0.59425	D	0.04	-15.5032	14.3052	0.66380	0.0:0.0:1.0:0.0	.	284;284	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	L	284	ENSP00000356634:R284L;ENSP00000356633:R284L	ENSP00000356633:R284L	R	+	2	0	PAPPA2	174792932	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.086000	0.71352	2.103000	0.63969	0.313000	0.20887	CGG		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	24	1	0	1.01871e-10	0.008871	1.16628e-10	21	24				
RASAL2	9462	broad.mit.edu	37	1	178425883	178425883	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:178425883C>T	ENST00000462775.1	+	11	1941	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	RASAL2_ENST00000448150.3_Missense_Mutation_p.P736S|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGGCCTCTCCCTCGTGTTCT	0.448																																							uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(1816-1818)CCT>TCT		RAS protein activator like 2 isoform 1							223.0	232.0	229.0					1																	178425883		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425883C>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1816C>T	1.37:g.178425883C>T	ENSP00000420558:p.Pro606Ser					RASAL2_uc001glq.2_Missense_Mutation_p.P747S|RASAL2_uc009wxc.2_Missense_Mutation_p.P120S	p.P606S	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			11	1941	+			606					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1816C>T	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.171067|4.171067	0.78452|0.78452	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000433130|ENST00000448150;ENST00000367649;ENST00000462775	.|T;T;T	.|0.31769	.|1.48;2.29;1.53	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.059645|0.059645	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.61949|0.61949	0.2388|0.2388	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.89917	.|1.0;0.406;1.0	.|D;B;D	.|0.81914	.|0.984;0.074;0.995	T|T	0.68849|0.68849	-0.5300|-0.5300	6|10	.|0.72032	.|D	.|0.01	.|.	18.6466|18.6466	0.91413|0.91413	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|736;606;747	.|B1AKC7;Q9UJF2;F8W755	.|.;NGAP_HUMAN;.	L|S	156|736;747;606	.|ENSP00000407768:P736S;ENSP00000356621:P747S;ENSP00000420558:P606S	.|ENSP00000356621:P747S	P|P	+|+	2|1	0|0	RASAL2|RASAL2	176692506|176692506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.330000|7.330000	0.79181|0.79181	2.381000|2.381000	0.81170|0.81170	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.448	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		131	325	0	0	0	0.00361	0	131	325				
MR1	3140	broad.mit.edu	37	1	181018349	181018349	+	Missense_Mutation	SNP	G	G	T	rs372969823		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:181018349G>T	ENST00000367580.5	+	2	234	c.229G>T	c.(229-231)Gcg>Tcg	p.A77S	MR1_ENST00000434571.2_Missense_Mutation_p.A77S|MR1_ENST00000367579.3_Missense_Mutation_p.A77S|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.A77S	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	77	Alpha-1.|Ligand-binding.		A -> V (in dbSNP:rs3897434).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	AGAGAACCTCGCGCCTGATCA	0.562																																					Colon(174;1412 1962 45296 46549 47110)	Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NA																	0				skin(1)	1						c.(229-231)GCG>TCG		major histocompatibility complex, class							47.0	46.0	47.0					1																	181018349		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181018349G>T	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.229G>T	1.37:g.181018349G>T	ENSP00000356552:p.Ala77Ser					MR1_uc001gop.2_Missense_Mutation_p.A77S|MR1_uc001gor.1_Missense_Mutation_p.A77S|MR1_uc001gos.1_Missense_Mutation_p.A77S|MR1_uc010pns.1_Missense_Mutation_p.A77S	p.A77S	NM_001531	NP_001522	Q95460	HMR1_HUMAN			2	234	+			77			Extracellular (Potential).|Ligand-binding.|Alpha-1.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.229G>T	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149544	0.57151	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.89270	9.5;9.5;9.5;-2.49	3.8	2.83	0.33086	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	D	0.82893	0.5136	N	0.20986	0.625	0.09310	N	1	P;P;P;P;P	0.52842	0.622;0.772;0.946;0.956;0.946	B;B;B;P;B	0.47134	0.313;0.356;0.403;0.539;0.35	T	0.73633	-0.3921	9	0.87932	D	0	.	6.7103	0.23274	0.1412:0.0:0.8588:0.0	.	77;77;77;77;77	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	S	77	ENSP00000388504:A77S;ENSP00000356552:A77S;ENSP00000282990:A77S;ENSP00000356551:A77S	ENSP00000282990:A77S	A	+	1	0	MR1	179284972	0.013000	0.17824	0.012000	0.15200	0.081000	0.17604	1.795000	0.38784	0.887000	0.36136	0.479000	0.44913	GCG		0.562	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		32	44	1	0	8.88839e-20	0.010818	1.12978e-19	32	44				
RNASEL	6041	broad.mit.edu	37	1	182545507	182545507	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:182545507C>T	ENST00000367559.3	-	6	2176	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	RNASEL_ENST00000444138.1_Missense_Mutation_p.M641I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	641	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCATTTTTTTCATAACACATT	0.299																																							uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(1921-1923)ATG>ATA		ribonuclease L							38.0	39.0	39.0					1																	182545507		2200	4293	6493	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182545507C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1923G>A	1.37:g.182545507C>T	ENSP00000356530:p.Met641Ile					RNASEL_uc009wxz.1_Missense_Mutation_p.M641I	p.M641I	NM_021133	NP_066956	Q05823	RN5A_HUMAN			5	2090	-			641			KEN.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.1923G>A	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904539	0.72868	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.29655	1.56;1.56	5.4	5.4	0.78164	KEN domain, ribonuclease activator (2);	0.074195	0.56097	D	0.000023	T	0.53449	0.1797	M	0.80028	2.48	0.80722	D	1	D	0.54964	0.969	P	0.58660	0.843	T	0.57213	-0.7850	10	0.62326	D	0.03	-42.1624	15.0186	0.71609	0.0:1.0:0.0:0.0	.	641	Q05823	RN5A_HUMAN	I	641	ENSP00000356530:M641I;ENSP00000411147:M641I	ENSP00000356530:M641I	M	-	3	0	RNASEL	180812130	0.886000	0.30341	0.734000	0.30879	0.018000	0.09664	1.569000	0.36428	2.681000	0.91329	0.591000	0.81541	ATG		0.299	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		11	37	0	0	0	0.008291	0	11	37				
HMCN1	83872	broad.mit.edu	37	1	186120472	186120472	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:186120472C>T	ENST00000271588.4	+	94	14978	c.14749C>T	c.(14749-14751)Cgt>Tgt	p.R4917C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4917C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4917	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGTACCTCGTAGTCTTGG	0.323																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(14749-14751)CGT>TGT		hemicentin 1 precursor							97.0	96.0	96.0					1																	186120472		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120472C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14749C>T	1.37:g.186120472C>T	ENSP00000271588:p.Arg4917Cys					HMCN1_uc001grs.1_Missense_Mutation_p.R486C	p.R4917C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			94	14978	+			4917			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14749C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209195	0.58343	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23552	1.9;1.9	5.04	5.04	0.67666	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.098532	0.64402	D	0.000003	T	0.44350	0.1289	L	0.51422	1.61	0.51767	D	0.999934	D	0.89917	1.0	D	0.77004	0.989	T	0.35871	-0.9771	10	0.72032	D	0.01	.	13.3662	0.60684	0.1577:0.8423:0.0:0.0	.	4917	Q96RW7	HMCN1_HUMAN	C	4917	ENSP00000271588:R4917C;ENSP00000356462:R4917C	ENSP00000271588:R4917C	R	+	1	0	HMCN1	184387095	1.000000	0.71417	0.995000	0.50966	0.523000	0.34469	4.892000	0.63193	2.325000	0.78763	0.591000	0.81541	CGT		0.323	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	61	0	0	0	0.010504	0	19	61				
CFH	3075	broad.mit.edu	37	1	196648785	196648785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196648785G>T	ENST00000359637.2	+	5	522	c.460G>T	c.(460-462)Gga>Tga	p.G154*	CFH_ENST00000439155.2_Nonsense_Mutation_p.G218*|CFH_ENST00000367429.4_Nonsense_Mutation_p.G218*			P08603	CFAH_HUMAN	complement factor H	218	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTATAAATGGATCTCCTAT	0.303																																							uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(652-654)GGA>TGA		complement factor H isoform a precursor							49.0	53.0	52.0					1																	196648785		2202	4296	6498	SO:0001587	stop_gained	3075				complement activation, alternative pathway	extracellular space		g.chr1:196648785G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.460G>T	1.37:g.196648785G>T	ENSP00000352658:p.Gly154*					CFH_uc001gti.3_Nonsense_Mutation_p.G218*|CFH_uc009wyw.2_Nonsense_Mutation_p.G218*|CFH_uc009wyx.2_Nonsense_Mutation_p.G154*	p.G218*	NM_000186	NP_000177	P08603	CFAH_HUMAN			6	892	+			218			Sushi 4.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	ENST00000359637.2	37	c.652G>T		.	.	.	.	.	.	.	.	.	.	G	18.50	3.638225	0.67130	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9778	0.80083	0.0:0.0:1.0:0.0	.	.	.	.	X	218;218;218;154	.	ENSP00000352658:G154X	G	+	1	0	CFH	194915408	1.000000	0.71417	0.952000	0.39060	0.014000	0.08584	5.498000	0.66931	2.840000	0.97914	0.655000	0.94253	GGA		0.303	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		21	54	1	0	6.33239e-15	0.010504	7.59576e-15	21	54				
CFHR5	81494	broad.mit.edu	37	1	196953168	196953168	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196953168C>A	ENST00000256785.4	+	3	440	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q135K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	111	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGATACTGTACAAATTATTTG	0.383																																							uc001gts.3		NA																	0				breast(1)|skin(1)	2						c.(331-333)CAA>AAA		complement factor H-related 5 precursor							110.0	98.0	102.0					1																	196953168		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196953168C>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.331C>A	1.37:g.196953168C>A	ENSP00000256785:p.Gln111Lys						p.Q111K	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			3	459	+			111			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.331C>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	9.949	1.219514	0.22373	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.62639	0.01;0.01	3.75	-4.95	0.03048	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.38746	0.1052	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.38887	-0.9640	9	0.06236	T	0.91	.	2.9303	0.05797	0.2825:0.1986:0.4184:0.1006	.	111	Q9BXR6	FHR5_HUMAN	K	135;111	ENSP00000356384:Q135K;ENSP00000256785:Q111K	ENSP00000256785:Q111K	Q	+	1	0	CFHR5	195219791	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.618000	0.02049	-0.487000	0.06735	-0.802000	0.03209	CAA		0.383	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		27	45	1	0	3.90053e-15	0.012213	4.73084e-15	27	45				
CFHR5	81494	broad.mit.edu	37	1	196953194	196953195	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196953194_196953195CC>AA	ENST00000256785.4	+	3	466_467	c.357_358CC>AA	c.(355-360)agCCtt>agAAtt	p.119_120SL>RI	CFHR5_ENST00000367414.5_Missense_Mutation_p.143_144SL>RI			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAGGATACAGCCTTCAAAACAA	0.396																																							uc001gts.3		NA																	0				breast(1)|skin(1)	2						c.(355-360)AGCCTT>AGAATT		complement factor H-related 5 precursor																																				SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196953194_196953195CC>AA	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	Exception_encountered	1.37:g.196953194_196953195delinsAA	ENSP00000256785:p.S119_L120delinsRI						p.119_120SL>RI	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			3	485_486	+			119_120			Sushi 2.		Q2NKK2	Missense_Mutation	DNP	ENST00000256785.4	37	c.357_358CC>AA	CCDS1387.1																																																																																				0.396	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		28	39	0	0	0	0.004672	0	28	39				
KIF21B	23046	broad.mit.edu	37	1	200959710	200959710	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:200959710G>T	ENST00000422435.2	-	19	3145	c.2829C>A	c.(2827-2829)ctC>ctA	p.L943L	KIF21B_ENST00000332129.2_Silent_p.L943L|KIF21B_ENST00000360529.5_Silent_p.L943L|KIF21B_ENST00000461742.2_Silent_p.L943L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	943					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTTGATGAGCCGCTCCA	0.582																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(2827-2829)CTC>CTA		kinesin family member 21B							80.0	78.0	78.0					1																	200959710		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959710G>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2829C>A	1.37:g.200959710G>T						KIF21B_uc001gvr.1_Silent_p.L943L|KIF21B_uc009wzl.1_Silent_p.L943L|KIF21B_uc010ppn.1_Silent_p.L943L	p.L943L	NM_017596	NP_060066	O75037	KI21B_HUMAN			19	3146	-			943			Potential.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.2829C>A	CCDS58056.1																																																																																				0.582	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		21	60	1	0	1.96292e-10	0.010504	2.23682e-10	21	60				
NFASC	23114	broad.mit.edu	37	1	204971877	204971877	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:204971877G>T	ENST00000401399.1	+	26	3488		c.e26+1		NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCAGTACAGGTGAGAGGGGA	0.552																																							uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.e27+1		neurofascin isoform 1 precursor							63.0	59.0	60.0					1																	204971877		1568	3582	5150	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204971877G>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3289+1G>T	1.37:g.204971877G>T						NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Splice_Site_p.A120_splice|NFASC_uc009xbh.1_Intron	p.A1097_splice	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		27	3617	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)							B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37	c.3289_splice	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657916	0.88154	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399;ENST00000413225	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3046	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203238500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.085000	0.94083	2.652000	0.90054	0.655000	0.94253	.		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	4	60	1	0	0.000602214	0.000602	0.000621232	4	60				
IL20	50604	broad.mit.edu	37	1	207039976	207039976	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:207039976C>G	ENST00000367098.1	+	4	736	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	IL20_ENST00000391930.2_Missense_Mutation_p.L125V|IL20_ENST00000367096.3_Missense_Mutation_p.L125V			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GGACCTCCGGCTCTGTGTGAG	0.483																																							uc001her.2		NA																	0					0						c.(373-375)CTC>GTC		interleukin 20 precursor							135.0	136.0	136.0					1																	207039976		2203	4300	6503	SO:0001583	missense	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207039976C>G	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.373C>G	1.37:g.207039976C>G	ENSP00000356065:p.Leu125Val					IL20_uc010pry.1_Missense_Mutation_p.L196V|IL20_uc009xby.2_Missense_Mutation_p.L125V	p.L125V	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	3	417	+	Breast(84;0.201)		125					Q14CE5	Missense_Mutation	SNP	ENST00000367098.1	37	c.373C>G	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556801	0.13436	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.62941	-0.01;-0.01;2.32	5.06	3.13	0.36017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.488009	0.21755	N	0.069605	T	0.45816	0.1361	N	0.25060	0.705	0.26028	N	0.981772	B;B	0.27166	0.141;0.17	B;B	0.26310	0.041;0.068	T	0.27088	-1.0084	10	0.27082	T	0.32	-3.1907	11.9242	0.52810	0.0:0.6474:0.3526:0.0	.	125;125	Q2THG6;Q9NYY1	.;IL20_HUMAN	V	125	ENSP00000356065:L125V;ENSP00000356063:L125V;ENSP00000375796:L125V	ENSP00000356063:L125V	L	+	1	0	IL20	205106599	0.000000	0.05858	0.985000	0.45067	0.997000	0.91878	0.642000	0.24735	0.595000	0.29777	0.655000	0.94253	CTC		0.483	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		152	185	0	0	0	0.00361	0	152	185				
LAMB3	3914	broad.mit.edu	37	1	209797302	209797302	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:209797302C>T	ENST00000356082.4	-	15	2154	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E674K|LAMB3_ENST00000391911.1_Missense_Mutation_p.E674K|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	674	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACAACGTCTCCTCCTCCAGG	0.507																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2020-2022)GAG>AAG		laminin, beta 3 precursor							70.0	69.0	69.0					1																	209797302		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209797302C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2020G>A	1.37:g.209797302C>T	ENSP00000348384:p.Glu674Lys					LAMB3_uc009xco.2_Missense_Mutation_p.E674K|LAMB3_uc001hhh.2_Missense_Mutation_p.E674K|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	p.E674K	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	14	2410	-			674			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.2020G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	7.172	0.587836	0.13812	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37411	1.2;1.2;1.2	4.1	4.1	0.47936	.	0.422836	0.26446	N	0.024330	T	0.23766	0.0575	N	0.20986	0.625	0.30338	N	0.785957	B	0.30824	0.296	B	0.26202	0.067	T	0.11060	-1.0603	10	0.23302	T	0.38	.	14.5219	0.67856	0.0:1.0:0.0:0.0	.	674	Q13751	LAMB3_HUMAN	K	674	ENSP00000375778:E674K;ENSP00000348384:E674K;ENSP00000355997:E674K	ENSP00000348384:E674K	E	-	1	0	LAMB3	207863925	0.977000	0.34250	0.721000	0.30653	0.082000	0.17680	2.238000	0.43070	2.031000	0.59945	0.298000	0.19748	GAG		0.507	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		37	93	0	0	0	0.00623	0	37	93				
USH2A	7399	broad.mit.edu	37	1	215821958	215821958	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:215821958G>C	ENST00000307340.3	-	66	14880	c.14494C>G	c.(14494-14496)Ctg>Gtg	p.L4832V	USH2A_ENST00000366943.2_Missense_Mutation_p.L4832V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4832	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGAGGACAGTCCTGAGGGT	0.567										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14494-14496)CTG>GTG		usherin isoform B							107.0	92.0	97.0					1																	215821958		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821958G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14494C>G	1.37:g.215821958G>C	ENSP00000305941:p.Leu4832Val	HNSCC(13;0.011)					p.L4832V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14881	-			4832			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14494C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507176	0.44558	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.51071	0.72;0.72	5.63	1.57	0.23409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.221905	0.21770	N	0.069380	T	0.34366	0.0895	L	0.46885	1.475	0.23657	N	0.997181	B	0.21071	0.051	B	0.23275	0.045	T	0.28554	-1.0040	10	0.10111	T	0.7	.	8.7475	0.34596	0.128:0.232:0.64:0.0	.	4832	O75445	USH2A_HUMAN	V	4832	ENSP00000305941:L4832V;ENSP00000355910:L4832V	ENSP00000305941:L4832V	L	-	1	2	USH2A	213888581	1.000000	0.71417	0.004000	0.12327	0.714000	0.41099	3.801000	0.55545	0.036000	0.15547	0.655000	0.94253	CTG		0.567	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		38	78	0	0	0	0.004289	0	38	78				
USH2A	7399	broad.mit.edu	37	1	215933050	215933050	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:215933050C>G	ENST00000307340.3	-	57	11569	c.11183G>C	c.(11182-11184)gGc>gCc	p.G3728A	USH2A_ENST00000366943.2_Missense_Mutation_p.G3728A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3728	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTCACTGCCACCCAGGAA	0.403										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11182-11184)GGC>GCC		usherin isoform B							130.0	123.0	125.0					1																	215933050		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933050C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11183G>C	1.37:g.215933050C>G	ENSP00000305941:p.Gly3728Ala	HNSCC(13;0.011)					p.G3728A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11570	-			3728			Fibronectin type-III 22.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11183G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797325	0.50208	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14022	2.56;2.54	5.5	3.5	0.40072	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000459	T	0.11879	0.0289	L	0.53249	1.67	0.09310	N	0.999999	P	0.40083	0.702	B	0.36092	0.217	T	0.16600	-1.0397	10	0.14656	T	0.56	.	10.9043	0.47071	0.0:0.7986:0.1307:0.0707	.	3728	O75445	USH2A_HUMAN	A	3728	ENSP00000305941:G3728A;ENSP00000355910:G3728A	ENSP00000305941:G3728A	G	-	2	0	USH2A	213999673	0.286000	0.24305	0.300000	0.25030	0.995000	0.86356	1.396000	0.34531	1.459000	0.47892	0.563000	0.77884	GGC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	78	0	0	0	0.004878	0	36	78				
RRP15	51018	broad.mit.edu	37	1	218458660	218458660	+	Start_Codon_SNP	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:218458660T>C	ENST00000366932.3	+	1	32	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	1						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CGCAGAAAAATGGCAGCCGCC	0.562																																							uc001hlj.2		NA																	0					0						c.(1-3)ATG>ACG		ribosomal RNA processing 15 homolog							25.0	31.0	29.0					1																	218458660		2202	4295	6497	SO:0001582	initiator_codon_variant	51018					mitochondrion|nucleolus	protein binding	g.chr1:218458660T>C		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.2T>C	1.37:g.218458660T>C	ENSP00000355899:p.Met1Thr						p.M1T	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	1	32	+			1						Missense_Mutation	SNP	ENST00000366932.3	37	c.2T>C	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279698	0.40294	.	.	ENSG00000067533	ENST00000366932	T	0.28255	1.62	4.12	4.12	0.48240	.	0.439858	0.24474	N	0.038216	T	0.51534	0.1680	.	.	.	0.53005	D	0.999964	D	0.65815	0.995	D	0.69824	0.966	T	0.55055	-0.8200	9	0.87932	D	0	-23.8523	9.8427	0.41008	0.0:0.0:0.0:1.0	.	1	Q9Y3B9	RRP15_HUMAN	T	1	ENSP00000355899:M1T	ENSP00000355899:M1T	M	+	2	0	RRP15	216525283	1.000000	0.71417	0.979000	0.43373	0.023000	0.10783	2.900000	0.48687	2.085000	0.62840	0.528000	0.53228	ATG		0.562	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052	Missense_Mutation	16	52	0	0	0	0.00278	0	16	52				
ITPKB	3707	broad.mit.edu	37	1	226923860	226923860	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:226923860C>T	ENST00000272117.3	-	1	1299	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	ITPKB_ENST00000429204.1_Missense_Mutation_p.G434R|ITPKB_ENST00000366784.1_Missense_Mutation_p.G434R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	434					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAACGCCCCCCGCCCACGGGG	0.706																																					Colon(84;110 1851 5306 33547)	Colon(84;110 1851 5306 33547)	uc010pvo.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1300-1302)GGG>AGG		1D-myo-inositol-trisphosphate 3-kinase B							15.0	18.0	17.0					1																	226923860		2103	4228	6331	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923860C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1300G>A	1.37:g.226923860C>T	ENSP00000272117:p.Gly434Arg					ITPKB_uc001hqh.2_Missense_Mutation_p.G434R	p.G434R	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	1640	-		Prostate(94;0.0773)	434					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1300G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.554637	0.00918	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.21031	2.03;2.03;2.03	4.71	-9.41	0.00613	.	2.141450	0.01819	N	0.033957	T	0.07503	0.0189	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13818	-1.0495	10	0.15066	T	0.55	1.1422	5.1615	0.15064	0.0647:0.2503:0.2833:0.4017	.	434	P27987	IP3KB_HUMAN	R	434	ENSP00000272117:G434R;ENSP00000411152:G434R;ENSP00000355748:G434R	ENSP00000272117:G434R	G	-	1	0	ITPKB	224990483	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.406000	0.00239	-4.588000	0.00041	-1.579000	0.00862	GGG		0.706	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		17	40	0	0	0	0.004007	0	17	40				
NUP133	55746	broad.mit.edu	37	1	229606485	229606485	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:229606485G>C	ENST00000261396.3	-	15	2009	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V	NUP133_ENST00000537506.1_Missense_Mutation_p.L624V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	640					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCACAGAGCAACAGTCGA	0.483																																							uc001htn.2		NA																	0				breast(4)|skin(2)|ovary(1)	7						c.(1918-1920)CTC>GTC		nucleoporin 133kDa							104.0	93.0	97.0					1																	229606485		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606485G>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1918C>G	1.37:g.229606485G>C	ENSP00000261396:p.Leu640Val						p.L640V	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			15	2010	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	640					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1918C>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711145	0.89112	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.56444	0.6;0.46;0.61	5.56	5.56	0.83823	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.76645	-0.2883	10	0.56958	D	0.05	-5.1104	19.8898	0.96926	0.0:0.0:1.0:0.0	.	640	Q8WUM0	NU133_HUMAN	V	640;640;640;624	ENSP00000261396:L640V;ENSP00000355640:L640V;ENSP00000443496:L624V	ENSP00000261396:L640V	L	-	1	0	NUP133	227673108	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	9.473000	0.97714	2.775000	0.95449	0.655000	0.94253	CTC		0.483	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		15	110	0	0	0	0.004007	0	15	110				
PGBD5	79605	broad.mit.edu	37	1	230492796	230492796	+	Silent	SNP	G	G	A	rs548804256		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:230492796G>A	ENST00000525115.1	-	2	419	c.396C>T	c.(394-396)ctC>ctT	p.L132L	PGBD5_ENST00000391860.1_Silent_p.L86L|PGBD5_ENST00000321327.2_Silent_p.L231L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	132						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCTCATGACGAGGGCGAGGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19309	0.0		0.0	False		,,,				2504	0.0						uc010pwb.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(394-396)CTC>CTT		piggyBac transposable element derived 5							93.0	79.0	84.0					1																	230492796		2203	4300	6503	SO:0001819	synonymous_variant	79605					integral to membrane		g.chr1:230492796G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.396C>T	1.37:g.230492796G>A						PGBD5_uc001htv.2_Silent_p.L231L	p.L132L	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	2	396	-	Breast(184;0.0397)	Prostate(94;0.167)	132					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	ENST00000525115.1	37	c.396C>T																																																																																					0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		16	73	0	0	0	0.003163	0	16	73				
EGLN1	54583	broad.mit.edu	37	1	231557539	231557539	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:231557539G>A	ENST00000366641.3	-	1	3251	c.96C>T	c.(94-96)cgC>cgT	p.R32R	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				AGCGGCTGCAGCGCAGCAGGT	0.692																																							uc001huv.2		NA																	0					0						c.(94-96)CGC>CGT		egl nine homolog 1	Vitamin C(DB00126)						7.0	9.0	8.0					1																	231557539		2165	4252	6417	SO:0001819	synonymous_variant	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231557539G>A	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.96C>T	1.37:g.231557539G>A						EGLN1_uc001huu.3_5'Flank	p.R32R	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN			1	3252	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	32			MYND-type.			Silent	SNP	ENST00000366641.3	37	c.96C>T	CCDS1595.1																																																																																				0.692	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		5	17	0	0	0	0.001168	0	5	17				
NID1	4811	broad.mit.edu	37	1	236157056	236157056	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:236157056C>A	ENST00000264187.6	-	13	2726	c.2644G>T	c.(2644-2646)Ggg>Tgg	p.G882W	NID1_ENST00000366595.3_Missense_Mutation_p.G749W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	882	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGTAGTGCCCGTGCGCATCG	0.697																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2644-2646)GGG>TGG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						32.0	33.0	33.0					1																	236157056		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236157056C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2644G>T	1.37:g.236157056C>A	ENSP00000264187:p.Gly882Trp					NID1_uc009xgd.2_Missense_Mutation_p.G749W|NID1_uc009xgc.2_5'UTR	p.G882W	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	2746	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	882			Thyroglobulin type-1.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2644G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002026	0.74932	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.94793	-3.52;-3.52	5.69	5.69	0.88448	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	H	0.98351	4.21	0.47276	D	0.999372	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99372	1.0920	10	0.72032	D	0.01	.	19.3905	0.94581	0.0:1.0:0.0:0.0	.	749;882	P14543-2;P14543	.;NID1_HUMAN	W	882;749	ENSP00000264187:G882W;ENSP00000355554:G749W	ENSP00000264187:G882W	G	-	1	0	NID1	234223679	1.000000	0.71417	0.146000	0.22360	0.321000	0.28281	7.342000	0.79310	2.677000	0.91161	0.555000	0.69702	GGG		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		20	29	1	0	1.10513e-12	0.002299	1.29086e-12	20	29				
RYR2	6262	broad.mit.edu	37	1	237777971	237777971	+	Missense_Mutation	SNP	C	C	A	rs397516543		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:237777971C>A	ENST00000366574.2	+	37	5860	c.5543C>A	c.(5542-5544)cCc>cAc	p.P1848H	RYR2_ENST00000542537.1_Missense_Mutation_p.P1832H|RYR2_ENST00000360064.6_Missense_Mutation_p.P1846H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1848	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGAGCCCAGTGTGTTT	0.493																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5542-5544)CCC>CAC		cardiac muscle ryanodine receptor							67.0	69.0	68.0					1																	237777971		1994	4179	6173	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777971C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5543C>A	1.37:g.237777971C>A	ENSP00000355533:p.Pro1848His						p.P1848H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5663	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1848			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5543C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516933	0.85495	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74209	-0.82;-0.82;-0.82	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000011	D	0.85991	0.5826	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86659	0.1903	10	0.87932	D	0	.	19.6609	0.95871	0.0:1.0:0.0:0.0	.	1848	Q92736	RYR2_HUMAN	H	1848;1846;1832	ENSP00000355533:P1848H;ENSP00000353174:P1846H;ENSP00000443798:P1832H	ENSP00000353174:P1846H	P	+	2	0	RYR2	235844594	1.000000	0.71417	0.995000	0.50966	0.904000	0.53231	7.776000	0.85560	2.665000	0.90641	0.650000	0.86243	CCC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		42	119	1	0	1.47197e-15	0.007835	1.80091e-15	42	119				
KIF26B	55083	broad.mit.edu	37	1	245848725	245848725	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:245848725G>A	ENST00000407071.2	+	12	2880	c.2440G>A	c.(2440-2442)Ggc>Agc	p.G814S	KIF26B_ENST00000366518.4_Missense_Mutation_p.G433S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	814					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCTCGTCCGGCGGGGAGAG	0.642																																							uc001ibf.1		NA																	0				ovary(3)	3						c.(2440-2442)GGC>AGC		kinesin family member 26B							41.0	48.0	45.0					1																	245848725		2165	4268	6433	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848725G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2440G>A	1.37:g.245848725G>A	ENSP00000385545:p.Gly814Ser					KIF26B_uc001ibg.1_Missense_Mutation_p.G432S|KIF26B_uc001ibh.1_Missense_Mutation_p.G56S	p.G814S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	2880	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		814					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.2440G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335821	0.60853	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.78816	-1.21;-1.17	5.84	5.84	0.93424	.	.	.	.	.	D	0.90003	0.6879	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.869	D	0.90473	0.4454	9	0.72032	D	0.01	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	433;814	B7WPD9;Q2KJY2	.;KI26B_HUMAN	S	814;433;430	ENSP00000385545:G814S;ENSP00000355475:G433S	ENSP00000355475:G433S	G	+	1	0	KIF26B	243915348	1.000000	0.71417	0.899000	0.35326	0.053000	0.15095	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	GGC		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	40	0	0	0	0.001984	0	5	40				
CNST	163882	broad.mit.edu	37	1	246811011	246811011	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:246811011C>G	ENST00000366513.4	+	9	1777	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.S503*	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	503					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGGCTGACTCAGACGGTTCT	0.468																																							uc001ibp.2		NA																	0					0						c.(1507-1509)TCA>TGA		hypothetical protein LOC163882 isoform 1							73.0	74.0	74.0					1																	246811011		2203	4300	6503	SO:0001587	stop_gained	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811011C>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1508C>G	1.37:g.246811011C>G	ENSP00000355470:p.Ser503*					CNST_uc001ibo.3_Nonsense_Mutation_p.S503*	p.S503*	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1886	+			503					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Nonsense_Mutation	SNP	ENST00000366513.4	37	c.1508C>G	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731625	0.89390	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	.	.	.	4.67	3.74	0.42951	.	0.273088	0.26307	N	0.025128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.3595	10.4467	0.44499	0.0:0.8988:0.0:0.1012	.	.	.	.	X	503	.	ENSP00000355469:S503X	S	+	2	0	CNST	244877634	0.930000	0.31532	0.585000	0.28666	0.133000	0.20885	1.443000	0.35057	1.234000	0.43709	0.467000	0.42956	TCA		0.468	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	128	0	0	0	0.00308	0	8	128				
ZNF670	93474	broad.mit.edu	37	1	247201040	247201040	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:247201040C>A	ENST00000366503.2	-	4	1039	c.881G>T	c.(880-882)aGa>aTa	p.R294I		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCTGAGGACTCTGGAACATCT	0.403																																							uc001icd.1		NA																	0				ovary(1)	1						c.(880-882)AGA>ATA		zinc finger protein 670							126.0	130.0	129.0					1																	247201040		2203	4300	6503	SO:0001583	missense	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201040C>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.881G>T	1.37:g.247201040C>A	ENSP00000355459:p.Arg294Ile					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.R294I	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1052	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	294			C2H2-type 6.			Missense_Mutation	SNP	ENST00000366503.2	37	c.881G>T	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	5.415	0.261676	0.10239	.	.	ENSG00000135747	ENST00000366503	T	0.07908	3.15	0.641	-0.664	0.11406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.35992	-0.9766	9	0.56958	D	0.05	.	5.2942	0.15743	0.3299:0.6701:0.0:0.0	.	294	Q9BS34	ZN670_HUMAN	I	294	ENSP00000355459:R294I	ENSP00000355459:R294I	R	-	2	0	ZNF670	245267663	0.002000	0.14202	0.001000	0.08648	0.120000	0.20174	0.236000	0.17967	-0.282000	0.09128	0.467000	0.42956	AGA		0.403	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		62	136	1	0	2.75338e-15	0.00361	3.34363e-15	62	136				
ZNF669	79862	broad.mit.edu	37	1	247264069	247264069	+	Silent	SNP	A	A	G	rs142281141		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:247264069A>G	ENST00000343381.6	-	4	1174	c.1002T>C	c.(1000-1002)taT>taC	p.Y334Y	ZNF669_ENST00000448299.2_Silent_p.Y248Y|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGGTACATTTATAGGGTCTTT	0.413																																							uc001ice.2		NA																	0					0						c.(1000-1002)TAT>TAC		zinc finger protein 669 isoform 1		A	,	0,4406		0,0,2203	122.0	121.0	121.0		744,1002	-0.7	0.2	1	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF669	NM_001142572.1,NM_024804.2	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	248/379,334/465	247264069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264069A>G		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.1002T>C	1.37:g.247264069A>G						ZNF669_uc001icf.2_Silent_p.Y248Y	p.Y334Y	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1175	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		334			C2H2-type 6.		B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.1002T>C	CCDS31088.1																																																																																				0.413	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		77	93	0	0	0	0.00361	0	77	93				
OR2T3	343173	broad.mit.edu	37	1	248637229	248637229	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:248637229C>T	ENST00000359594.2	+	1	603	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGAAGCTCTCCTGCTCTGAC	0.517																																							uc001iel.1		NA																	0				skin(1)	1						c.(577-579)TCC>TTC		olfactory receptor, family 2, subfamily T,							136.0	113.0	120.0					1																	248637229		2156	4267	6423	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637229C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.578C>T	1.37:g.248637229C>T	ENSP00000352604:p.Ser193Phe						p.S193F	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	578	+	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)		193			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.578C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	15.50	2.853406	0.51270	.	.	ENSG00000196539	ENST00000359594	T	0.00299	8.22	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	M	0.91354	3.2	0.21762	N	0.999556	D	0.89917	1.0	D	0.85130	0.997	T	0.27468	-1.0073	9	0.87932	D	0	.	11.721	0.51683	0.0:1.0:0.0:0.0	.	193	Q8NH03	OR2T3_HUMAN	F	193	ENSP00000352604:S193F	ENSP00000352604:S193F	S	+	2	0	OR2T3	246703852	0.098000	0.21812	0.004000	0.12327	0.323000	0.28346	2.852000	0.48310	1.014000	0.39417	0.186000	0.17326	TCC		0.517	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		131	227	0	0	0	0.00361	0	131	227				
ZMYND11	10771	broad.mit.edu	37	10	255971	255971	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:255971T>A	ENST00000397962.3	+	3	687	c.259T>A	c.(259-261)Ttg>Atg	p.L87M	ZMYND11_ENST00000397959.3_Missense_Mutation_p.L87M|ZMYND11_ENST00000403354.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000602682.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000558098.2_Missense_Mutation_p.L87M|ZMYND11_ENST00000381607.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000309776.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000381584.1_Missense_Mutation_p.L70M|ZMYND11_ENST00000381602.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000509513.2_Missense_Mutation_p.L87M|ZMYND11_ENST00000545619.1_Missense_Mutation_p.L47M|ZMYND11_ENST00000402736.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000381604.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000381591.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000535374.1_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	87					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGATATTGGTTGCCAGGAGA	0.353																																							uc010pzt.1		NA																	0					0						c.(259-261)TTG>ATG		zinc finger, MYND domain containing 11 isoform							130.0	131.0	131.0					10																	255971		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:255971T>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.259T>A	10.37:g.255971T>A	ENSP00000381053:p.Leu87Met					ZMYND11_uc001ifk.2_Missense_Mutation_p.L87M|ZMYND11_uc010pzu.1_Missense_Mutation_p.L87M|ZMYND11_uc010pzv.1_Missense_Mutation_p.L87M|ZMYND11_uc010pzw.1_Missense_Mutation_p.L87M|ZMYND11_uc001ifm.2_Missense_Mutation_p.L87M|ZMYND11_uc010pzx.1_Missense_Mutation_p.L87M|ZMYND11_uc001ifn.2_Missense_Mutation_p.L87M|ZMYND11_uc009xhg.2_Missense_Mutation_p.L70M|ZMYND11_uc009xhh.2_Missense_Mutation_p.L41M|ZMYND11_uc010pzy.1_Missense_Mutation_p.L41M	p.L87M	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	687	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	47					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.259T>A	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443832	0.63067	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000397955;ENST00000381584;ENST00000545619	D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.63	4.49	0.54785	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.72894	2.215	0.37274	D	0.907517	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0;0.999;1.0;0.998;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.78314	0.972;0.987;0.916;0.942;0.972;0.991;0.972;0.915;0.942;0.972	D	0.94561	0.7762	9	0.72032	D	0.01	-15.0628	9.7781	0.40632	0.0:0.1389:0.0:0.8611	.	47;87;87;87;87;87;47;87;87;87	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	M	87;87;47;47;87;87;87;87;47;87;47;87;70;47	ENSP00000381053:L87M;ENSP00000309992:L47M;ENSP00000371015:L47M;ENSP00000424205:L87M;ENSP00000371003:L87M;ENSP00000386010:L87M;ENSP00000371017:L47M;ENSP00000370996:L70M	ENSP00000309992:L47M	L	+	1	2	ZMYND11	245971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.718000	0.47236	1.073000	0.40885	0.533000	0.62120	TTG		0.353	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		31	90	0	0	0	0.012213	0	31	90				
ANKRD16	54522	broad.mit.edu	37	10	5929981	5929981	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:5929981C>G	ENST00000380094.5	-	2	907	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	FBXO18_ENST00000397269.3_5'Flank|ANKRD16_ENST00000380092.4_Missense_Mutation_p.E122Q|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E122Q|FBXO18_ENST00000362091.4_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	122										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TCCACCAGCTCCTGGATCACC	0.537																																							uc010qat.1		NA																	0					0						c.(364-366)GAG>CAG		ankyrin repeat domain 16 isoform a							132.0	131.0	131.0					10																	5929981		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929981C>G	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.364G>C	10.37:g.5929981C>G	ENSP00000369436:p.Glu122Gln					ANKRD16_uc009xie.2_Missense_Mutation_p.E122Q|ANKRD16_uc009xif.2_Missense_Mutation_p.E122Q|ANKRD16_uc001iiq.2_Missense_Mutation_p.E122Q|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	p.E122Q	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			2	907	-			122			ANK 3.		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.364G>C	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828671	0.32329	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.64260	-0.09;-0.09;-0.09	4.85	3.92	0.45320	Ankyrin repeat-containing domain (4);	0.289724	0.37623	N	0.002005	T	0.50905	0.1643	N	0.17474	0.49	0.32663	N	0.517853	B;B;B	0.32467	0.372;0.372;0.178	B;B;B	0.39119	0.202;0.291;0.262	T	0.62709	-0.6797	10	0.45353	T	0.12	-10.7436	14.2926	0.66289	0.15:0.85:0.0:0.0	.	122;122;122	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	Q	122	ENSP00000369436:E122Q;ENSP00000369434:E122Q;ENSP00000352361:E122Q	ENSP00000352361:E122Q	E	-	1	0	ANKRD16	5969987	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.381000	0.44336	1.143000	0.42306	0.558000	0.71614	GAG		0.537	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		47	233	0	0	0	0.00361	0	47	233				
IL2RA	3559	broad.mit.edu	37	10	6063568	6063568	+	Nonsense_Mutation	SNP	G	G	T	rs377104035		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:6063568G>T	ENST00000379959.3	-	4	629	c.456C>A	c.(454-456)tgC>tgA	p.C152*	IL2RA_ENST00000256876.6_Nonsense_Mutation_p.C152*|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	152	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527																																							uc001iiz.1		NA																	0				ovary(1)|skin(1)	2						c.(454-456)TGC>TGA		interleukin 2 receptor, alpha chain precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						178.0	157.0	164.0					10																	6063568		2203	4300	6503	SO:0001587	stop_gained	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063568G>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.456C>A	10.37:g.6063568G>T	ENSP00000369293:p.Cys152*					IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	p.C152*	NM_000417	NP_000408	P01589	IL2RA_HUMAN			4	615	-			152			Sushi 2.|Extracellular (Potential).		Q5W007	Nonsense_Mutation	SNP	ENST00000379959.3	37	c.456C>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981894	0.34942	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	.	.	.	4.32	-0.75	0.11080	.	0.180954	0.39615	N	0.001307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5525	7.1658	0.25689	0.5272:0.0:0.4728:0.0	.	.	.	.	X	152	.	ENSP00000256876:C152X	C	-	3	2	IL2RA	6103574	0.001000	0.12720	0.104000	0.21259	0.010000	0.07245	-0.698000	0.05092	-0.029000	0.13827	0.650000	0.86243	TGC		0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		60	160	1	0	5.73332e-34	0.00361	8.20241e-34	60	160				
ITIH2	3698	broad.mit.edu	37	10	7759635	7759635	+	Missense_Mutation	SNP	C	C	A	rs529122943		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:7759635C>A	ENST00000358415.4	+	6	680	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.L161I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	172	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGTAAATGTCCTCCCAGGAGC	0.493																																							uc001ijs.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(514-516)CTC>ATC		inter-alpha globulin inhibitor H2 polypeptide							162.0	165.0	164.0					10																	7759635		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759635C>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.514C>A	10.37:g.7759635C>A	ENSP00000351190:p.Leu172Ile						p.L172I	NM_002216	NP_002207	P19823	ITIH2_HUMAN			6	676	+			172			VIT.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.514C>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583541	0.28268	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.23348	1.91;1.91;1.91	5.34	3.46	0.39613	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.433846	0.26650	N	0.023205	T	0.26629	0.0651	L	0.50333	1.59	0.19300	N	0.99998	P	0.34615	0.459	B	0.33521	0.165	T	0.10753	-1.0616	10	0.62326	D	0.03	0.0334	15.6806	0.77364	0.0:0.7294:0.2706:0.0	.	172	P19823	ITIH2_HUMAN	I	172;147;161	ENSP00000351190:L172I;ENSP00000388826:L147I;ENSP00000368906:L161I	ENSP00000351190:L172I	L	+	1	0	ITIH2	7799641	0.553000	0.26513	0.001000	0.08648	0.006000	0.05464	3.086000	0.50159	0.599000	0.29845	0.563000	0.77884	CTC		0.493	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		72	267	1	0	1.79293e-35	0.00361	2.58774e-35	72	267				
KIN	22944	broad.mit.edu	37	10	7808025	7808025	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:7808025C>A	ENST00000379562.4	-	9	887	c.840G>T	c.(838-840)tgG>tgT	p.W280C	KIN_ENST00000535925.1_Missense_Mutation_p.W280C|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.W174C	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAGGCTGTAGCCAGTAGTCTG	0.318																																							uc001ijt.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(838-840)TGG>TGT		HsKin17 protein							94.0	88.0	90.0					10																	7808025		2203	4298	6501	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7808025C>A	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.840G>T	10.37:g.7808025C>A	ENSP00000368881:p.Trp280Cys					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.W280C|KIN_uc010qba.1_Missense_Mutation_p.W174C	p.W280C	NM_012311	NP_036443	O60870	KIN17_HUMAN			9	888	-			280						Missense_Mutation	SNP	ENST00000379562.4	37	c.840G>T	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869027	0.72065	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.88209	0.2889	9	0.87932	D	0	-17.0872	18.3939	0.90492	0.0:1.0:0.0:0.0	.	174;280;280	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	C	280;280;174	.	ENSP00000368881:W280C	W	-	3	0	KIN	7848031	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.115000	0.64655	2.882000	0.98803	0.655000	0.94253	TGG		0.318	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		19	62	1	0	1.64113e-05	0.010504	1.71828e-05	19	62				
ITGA8	8516	broad.mit.edu	37	10	15617523	15617523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:15617523C>A	ENST00000378076.3	-	24	2796	c.2443G>T	c.(2443-2445)Gag>Tag	p.E815*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	815					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAACCTCCTCCTCTTTGTGG	0.423																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(2443-2445)GAG>TAG		integrin, alpha 8 precursor							161.0	146.0	151.0					10																	15617523		2203	4300	6503	SO:0001587	stop_gained	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15617523C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2443G>T	10.37:g.15617523C>A	ENSP00000367316:p.Glu815*					ITGA8_uc010qcb.1_Nonsense_Mutation_p.E800*	p.E815*	NM_003638	NP_003629	P53708	ITA8_HUMAN			24	2443	-			815			Extracellular (Potential).		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.2443G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767985	0.99259	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	5.5	0.81552	.	0.093298	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.9658	0.53033	0.0:0.9189:0.0:0.0811	.	.	.	.	X	815;800	.	ENSP00000367316:E815X	E	-	1	0	ITGA8	15657529	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	3.619000	0.54196	2.741000	0.93983	0.650000	0.86243	GAG		0.423	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		22	115	1	0	6.21321e-17	0.00278	7.70753e-17	22	115				
STAM	8027	broad.mit.edu	37	10	17726723	17726723	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:17726723C>A	ENST00000377524.3	+	3	390	c.175C>A	c.(175-177)Cct>Act	p.P59T	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	59	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCACAAAGATCCTCACGTTGC	0.373																																							uc001ipj.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(175-177)CCT>ACT		signal transducing adaptor molecule 1							153.0	150.0	151.0					10																	17726723		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17726723C>A	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.175C>A	10.37:g.17726723C>A	ENSP00000366746:p.Pro59Thr					STAM_uc010qcf.1_Intron	p.P59T	NM_003473	NP_003464	Q92783	STAM1_HUMAN			3	391	+			59			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.175C>A	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101479	0.94245	.	.	ENSG00000136738	ENST00000377524;ENST00000445846	T	0.24908	1.83	5.87	5.87	0.94306	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68161	-0.5482	10	0.72032	D	0.01	-23.3939	20.2245	0.98337	0.0:1.0:0.0:0.0	.	59	Q92783	STAM1_HUMAN	T	59;9	ENSP00000366746:P59T	ENSP00000366746:P59T	P	+	1	0	STAM	17766729	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.762000	0.85270	2.770000	0.95276	0.650000	0.86243	CCT		0.373	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		10	97	1	0	0.000978159	0.010729	0.00100587	10	97				
SLC39A12	221074	broad.mit.edu	37	10	18250525	18250525	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:18250525G>T	ENST00000377369.2	+	3	550	c.277G>T	c.(277-279)Gca>Tca	p.A93S	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.A93S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A93S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	93					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGAACCAGATGCACTATTACT	0.373																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(277-279)GCA>TCA		solute carrier family 39 (zinc transporter),							68.0	71.0	70.0					10																	18250525		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250525G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.277G>T	10.37:g.18250525G>T	ENSP00000366586:p.Ala93Ser					SLC39A12_uc001ipn.2_Missense_Mutation_p.A93S|SLC39A12_uc001ipp.2_Missense_Mutation_p.A93S|SLC39A12_uc010qck.1_5'UTR	p.A93S	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	550	+			93			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.277G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811096	0.50421	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.23348	1.91;1.91;1.91	5.43	4.52	0.55395	.	0.589703	0.18338	N	0.144279	T	0.42471	0.1204	M	0.72118	2.19	0.80722	D	1	D;D;D	0.58268	0.982;0.97;0.965	P;P;P	0.56343	0.796;0.629;0.676	T	0.13098	-1.0522	10	0.31617	T	0.26	-15.7572	13.5799	0.61896	0.0746:0.0:0.9254:0.0	.	93;93;93	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	S	93;93;93;13	ENSP00000366586:A93S;ENSP00000366591:A93S;ENSP00000366588:A93S	ENSP00000366586:A93S	A	+	1	0	SLC39A12	18290531	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.023000	0.57211	2.537000	0.85549	0.650000	0.86243	GCA		0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		36	60	1	0	6.53348e-20	0.003755	8.34786e-20	36	60				
PIP4K2A	5305	broad.mit.edu	37	10	22856817	22856817	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:22856817C>T	ENST00000376573.4	-	6	869	c.641G>A	c.(640-642)gGc>gAc	p.G214D	PIP4K2A_ENST00000545335.1_Splice_Site_p.G155D|PIP4K2A_ENST00000323883.7_Splice_Site_p.G74D|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	214	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CACTGTAGAGCCCTGAAACAC	0.483																																							uc001irl.3		NA																	0				ovary(1)|skin(1)	2						c.(640-642)GGC>GAC		phosphatidylinositol-5-phosphate 4-kinase, type							139.0	123.0	128.0					10																	22856817		2203	4300	6503	SO:0001630	splice_region_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22856817C>T	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.640-1G>A	10.37:g.22856817C>T						PIP4K2A_uc010qcu.1_Missense_Mutation_p.G74D	p.G214D	NM_005028	NP_005019	P48426	PI42A_HUMAN			6	889	-			214			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.641G>A	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057602	0.93846	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335;ENST00000422321;ENST00000376565	T;T;T	0.79454	-1.27;-1.27;-1.27	5.36	5.36	0.76844	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.976	D	0.96372	0.9274	10	0.87932	D	0	-28.5577	19.0839	0.93194	0.0:1.0:0.0:0.0	.	74;214	B4DH09;P48426	.;PI42A_HUMAN	D	214;74;155;166;173	ENSP00000365757:G214D;ENSP00000326294:G74D;ENSP00000442098:G155D	ENSP00000326294:G74D	G	-	2	0	PIP4K2A	22896823	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.252000	0.78309	2.530000	0.85305	0.650000	0.86243	GGC		0.483	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028	Missense_Mutation	31	179	0	0	0	0.010818	0	31	179				
KIAA1217	56243	broad.mit.edu	37	10	24762923	24762923	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:24762923C>G	ENST00000376454.3	+	6	1643	c.1613C>G	c.(1612-1614)cCt>cGt	p.P538R	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P538R|KIAA1217_ENST00000376451.2_Missense_Mutation_p.P256R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P256R|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P459R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P458R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P256R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P538R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P256R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	538					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GACCTCGGCCCTCCTCTAATG	0.547																																							uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(1612-1614)CCT>CGT		sickle tail isoform 1							79.0	73.0	75.0					10																	24762923		2202	4299	6501	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762923C>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1613C>G	10.37:g.24762923C>G	ENSP00000365637:p.Pro538Arg					KIAA1217_uc001irs.2_Missense_Mutation_p.P458R|KIAA1217_uc001irt.3_Missense_Mutation_p.P538R|KIAA1217_uc010qcy.1_Missense_Mutation_p.P538R|KIAA1217_uc010qcz.1_Missense_Mutation_p.P538R|KIAA1217_uc001irv.1_Missense_Mutation_p.P388R|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.P256R|KIAA1217_uc001irz.2_Missense_Mutation_p.P256R|KIAA1217_uc001irx.2_Missense_Mutation_p.P256R|KIAA1217_uc001iry.2_Missense_Mutation_p.P256R	p.P538R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			6	2016	+			538					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1613C>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534190	0.64972	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.03	5.03	0.67393	.	0.109289	0.64402	D	0.000005	T	0.69314	0.3097	M	0.70275	2.135	0.53688	D	0.999979	D;D;D;D;D;D;D;D	0.89917	1.0;0.992;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.97110	0.999;0.869;0.999;0.982;1.0;0.999;0.999;0.997	T	0.72673	-0.4222	10	0.87932	D	0	.	18.5307	0.90990	0.0:1.0:0.0:0.0	.	538;538;256;256;256;256;538;538	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	R	458;538;538;256;538;538;388;459;256;256;256;256;256	ENSP00000365645:P458R;ENSP00000365639:P538R;ENSP00000392625:P538R;ENSP00000365637:P538R;ENSP00000365635:P538R;ENSP00000404798:P388R;ENSP00000389680:P459R;ENSP00000302343:P256R;ENSP00000379722:P256R;ENSP00000365634:P256R;ENSP00000379723:P256R	ENSP00000302343:P256R	P	+	2	0	KIAA1217	24802929	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.868000	0.69605	2.624000	0.88883	0.591000	0.81541	CCT		0.547	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		54	65	0	0	0	0.00361	0	54	65				
SVIL	6840	broad.mit.edu	37	10	29779846	29779846	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:29779846G>A	ENST00000355867.4	-	22	4874	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	SVIL_ENST00000535393.1_Silent_p.L288L|SVIL_ENST00000375400.3_Silent_p.L948L|SVIL_ENST00000375398.2_Silent_p.L1374L|SVIL_ENST00000538146.1_Silent_p.L166L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1374					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATTCCTGAAGGAGATCTTCTC	0.527																																							uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(4120-4122)CTC>CTT		supervillin isoform 2							61.0	64.0	63.0					10																	29779846		2203	4297	6500	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779846G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4122C>T	10.37:g.29779846G>A						SVIL_uc010qdw.1_Silent_p.L288L|SVIL_uc001iuu.1_Silent_p.L948L|SVIL_uc009xlc.2_Silent_p.L166L	p.L1374L	NM_021738	NP_068506	O95425	SVIL_HUMAN			22	4875	-		Breast(68;0.103)	1374					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.4122C>T	CCDS7164.1																																																																																				0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			14	120	0	0	0	0.004007	0	14	120				
ZEB1	6935	broad.mit.edu	37	10	31810622	31810622	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:31810622G>C	ENST00000320985.10	+	7	2469	c.2359G>C	c.(2359-2361)Gaa>Caa	p.E787Q	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E720Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E788Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.E767Q|ZEB1_ENST00000446923.2_Missense_Mutation_p.E771Q			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	787					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACAGACTCAGAACCAGTTGT	0.448																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(2359-2361)GAA>CAA		zinc finger E-box binding homeobox 1 isoform b							141.0	117.0	125.0					10																	31810622		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810622G>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2359G>C	10.37:g.31810622G>C	ENSP00000319248:p.Glu787Gln					ZEB1_uc001ivr.3_Missense_Mutation_p.E569Q|ZEB1_uc010qee.1_Missense_Mutation_p.E569Q|ZEB1_uc010qef.1_Missense_Mutation_p.E569Q|ZEB1_uc009xlj.1_Missense_Mutation_p.E713Q|ZEB1_uc010qeg.1_Missense_Mutation_p.E646Q|ZEB1_uc009xlk.1_Missense_Mutation_p.E569Q|ZEB1_uc001ivt.3_Missense_Mutation_p.E569Q|ZEB1_uc001ivu.3_Missense_Mutation_p.E788Q|ZEB1_uc001ivv.3_Missense_Mutation_p.E767Q|ZEB1_uc010qeh.1_Missense_Mutation_p.E720Q|ZEB1_uc009xlo.1_Missense_Mutation_p.E770Q|ZEB1_uc009xlp.2_Missense_Mutation_p.E771Q	p.E787Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2422	+		Prostate(175;0.0156)	787					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2359G>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639387	0.14386	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12039	3.02;2.72;2.76;2.72;2.77	5.3	4.39	0.52855	.	0.543860	0.17461	N	0.173453	T	0.12646	0.0307	L	0.44542	1.39	0.34758	D	0.73241	B;B;P;B;B;B;P;B	0.36048	0.016;0.145;0.534;0.337;0.361;0.027;0.534;0.337	B;B;B;B;B;B;B;B	0.32289	0.026;0.143;0.107;0.107;0.068;0.018;0.107;0.107	T	0.16129	-1.0413	10	0.15066	T	0.55	-20.9882	16.3502	0.83202	0.0:0.1321:0.8679:0.0	.	720;787;771;787;787;767;788;787	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	Q	569;787;788;782;720;787;767;678;771	ENSP00000444282:E569Q;ENSP00000354487:E788Q;ENSP00000444891:E720Q;ENSP00000319248:E787Q;ENSP00000391612:E771Q	ENSP00000319248:E787Q	E	+	1	0	ZEB1	31850628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.900000	0.56295	1.354000	0.45846	-0.172000	0.13284	GAA		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	86	0	0	0	0.010729	0	12	86				
RET	5979	broad.mit.edu	37	10	43622127	43622127	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:43622127C>T	ENST00000355710.3	+	19	3376	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L	RET_ENST00000340058.5_Silent_p.L1048L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1048					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATGCCCCCCTCCCTCGAGCCC	0.522		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(3142-3144)CTC>CTT		ret proto-oncogene isoform a	Sunitinib(DB01268)						96.0	94.0	94.0					10																	43622127		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622127C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3144C>T	10.37:g.43622127C>T						RET_uc001jak.1_Silent_p.L1048L|RET_uc010qez.1_Silent_p.L794L	p.L1048L	NM_020975	NP_066124	P07949	RET_HUMAN			19	3334	+		Ovarian(717;0.0423)	1048			Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.3144C>T	CCDS7200.1																																																																																				0.522	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		71	70	0	0	0	0.00361	0	71	70				
FRMPD2	143162	broad.mit.edu	37	10	49414917	49414917	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:49414917C>T	ENST00000374201.3	-	14	1973	c.1671G>A	c.(1669-1671)agG>agA	p.R557R	FRMPD2_ENST00000305531.3_Silent_p.R532R|FRMPD2_ENST00000407470.4_Silent_p.R525R	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	557	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R557S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTCTGGCCTCCTCTTCTCTG	0.488																																							uc001jgi.2		NA																	1	Substitution - Missense(1)		cervix(1)	large_intestine(1)	1						c.(1669-1671)AGG>AGA		FERM and PDZ domain containing 2 isoform 3							110.0	98.0	102.0					10																	49414917		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49414917C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1671G>A	10.37:g.49414917C>T						FRMPD2_uc001jgh.2_Silent_p.R525R|FRMPD2_uc001jgj.2_Silent_p.R535R	p.R557R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	14	1778	-			557			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.1671G>A	CCDS31195.1																																																																																				0.488	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		55	53	0	0	0	0.00361	0	55	53				
ERCC6	2074	broad.mit.edu	37	10	50691563	50691563	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:50691563C>A	ENST00000355832.5	-	9	1900		c.e9-1		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTAGTTTCTCCTGAGACCACA	0.348								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.e9-1	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							98.0	88.0	92.0					10																	50691563		2203	4300	6503	SO:0001630	splice_region_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50691563C>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1822-1G>T	10.37:g.50691563C>A						ERCC6_uc010qgr.1_Splice_Site|ERCC6_uc001jhr.3_Splice_Site_p.E8_splice	p.E608_splice	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	1976	-								D3DX94|Q5W0L9	Splice_Site	SNP	ENST00000355832.5	37	c.1822_splice	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472101	0.84533	.	.	ENSG00000225830	ENST00000355832;ENST00000374129	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4307	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6	50361569	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.442000	0.80503	2.653000	0.90120	0.650000	0.86243	.		0.348	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	Intron	22	82	1	0	1.9806e-07	0.002299	2.16145e-07	22	82				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																							uc001jif.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr					PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	p.A584T	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	2011	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.1750G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	100	0	0	0	0.009096	0	4	100				
PCDH15	65217	broad.mit.edu	37	10	55617011	55617011	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:55617011T>C	ENST00000320301.6	-	28	4124	c.3730A>G	c.(3730-3732)Aat>Gat	p.N1244D	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.N1251D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.N1244D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.N1173D|PCDH15_ENST00000409834.1_Missense_Mutation_p.N855D|PCDH15_ENST00000361849.3_Missense_Mutation_p.N1244D|PCDH15_ENST00000395438.1_Missense_Mutation_p.N1244D|PCDH15_ENST00000395433.1_Missense_Mutation_p.N1222D|PCDH15_ENST00000395445.1_Missense_Mutation_p.N1251D|PCDH15_ENST00000395432.2_Missense_Mutation_p.N1207D|PCDH15_ENST00000414778.1_Missense_Mutation_p.N1249D|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1244	Cadherin 11. {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)				TCCAGCTGATTGACCACGGAG	0.353										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3730-3732)AAT>GAT		protocadherin 15 isoform CD1-4 precursor							75.0	74.0	74.0					10																	55617011		2203	4299	6502	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.chr10:55617011T>C	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.3730A>G	10.37:g.55617011T>C	ENSP00000322604:p.Asn1244Asp	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.N1249D|PCDH15_uc010qhr.1_Missense_Mutation_p.N1244D|PCDH15_uc010qhs.1_Missense_Mutation_p.N1256D|PCDH15_uc010qht.1_Missense_Mutation_p.N1251D|PCDH15_uc010qhu.1_Missense_Mutation_p.N1244D|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.N1244D|PCDH15_uc010qhw.1_Missense_Mutation_p.N1207D|PCDH15_uc010qhx.1_Missense_Mutation_p.N1173D|PCDH15_uc010qhy.1_Missense_Mutation_p.N1249D|PCDH15_uc010qhz.1_Missense_Mutation_p.N1244D|PCDH15_uc010qia.1_Missense_Mutation_p.N1222D|PCDH15_uc010qib.1_Missense_Mutation_p.N1222D	p.N1244D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			28	4125	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1244			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3730A>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604576	0.87157	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.57961	0.2089	N	0.25332	0.735	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;B;D;D	0.89917	0.997;0.999;1.0;1.0;0.998;0.999;0.997;0.99;0.995;0.995;0.434;0.997;1.0	D;D;D;D;D;D;D;P;D;D;B;P;D	0.79784	0.993;0.953;0.985;0.98;0.978;0.968;0.993;0.828;0.953;0.953;0.264;0.9;0.971	T	0.53337	-0.8453	9	0.19590	T	0.45	.	14.7016	0.69160	0.0:0.0:0.0:1.0	.	1222;1244;1244;1249;1173;1207;1244;1244;1251;1251;1244;1249;1244	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	1251;1249;1244;1244;855;1251;1207;1244;1222;1244;1244;1249;1173	ENSP00000363076:N1251D;ENSP00000410304:N1249D;ENSP00000378826:N1244D;ENSP00000386693:N855D;ENSP00000378832:N1251D;ENSP00000378820:N1207D;ENSP00000354950:N1244D;ENSP00000378821:N1222D;ENSP00000322604:N1244D;ENSP00000378818:N1244D;ENSP00000412628:N1173D	ENSP00000322604:N1244D	N	-	1	0	PCDH15	55287017	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.841000	0.86834	1.959000	0.56917	0.533000	0.62120	AAT		0.353	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		16	68	0	0	0	0.003163	0	16	68				
PCDH15	65217	broad.mit.edu	37	10	56138692	56138692	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:56138692C>G	ENST00000320301.6	-	4	562	c.168G>C	c.(166-168)ctG>ctC	p.L56L	PCDH15_ENST00000373965.2_Silent_p.L56L|PCDH15_ENST00000373957.3_Silent_p.L34L|PCDH15_ENST00000395430.1_Silent_p.L56L|PCDH15_ENST00000395440.1_Silent_p.L56L|PCDH15_ENST00000395442.1_Silent_p.L56L|PCDH15_ENST00000437009.1_Silent_p.L56L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Silent_p.L56L|PCDH15_ENST00000395438.1_Silent_p.L56L|PCDH15_ENST00000395433.1_Silent_p.L34L|PCDH15_ENST00000395445.1_Silent_p.L56L|PCDH15_ENST00000373955.1_Silent_p.L56L|PCDH15_ENST00000395432.2_Silent_p.L56L|PCDH15_ENST00000414778.1_Silent_p.L61L|PCDH15_ENST00000395446.1_Silent_p.L56L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	56	Cadherin 1. {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)				TGTTGTCCACCAGAATTGTAC	0.428										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(166-168)CTG>CTC		protocadherin 15 isoform CD1-4 precursor							143.0	146.0	145.0					10																	56138692		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:56138692C>G	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.168G>C	10.37:g.56138692C>G		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.L61L|PCDH15_uc010qhr.1_Silent_p.L56L|PCDH15_uc010qhs.1_Silent_p.L61L|PCDH15_uc010qht.1_Silent_p.L56L|PCDH15_uc010qhu.1_Silent_p.L56L|PCDH15_uc001jjv.1_Silent_p.L34L|PCDH15_uc010qhv.1_Silent_p.L56L|PCDH15_uc010qhw.1_Silent_p.L56L|PCDH15_uc010qhx.1_Silent_p.L56L|PCDH15_uc010qhy.1_Silent_p.L61L|PCDH15_uc010qhz.1_Silent_p.L56L|PCDH15_uc010qia.1_Silent_p.L34L|PCDH15_uc010qib.1_Silent_p.L34L|PCDH15_uc001jjw.2_Silent_p.L56L	p.L56L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	563	-		Melanoma(3;0.117)|Lung SC(717;0.238)	56			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.168G>C	CCDS7248.1																																																																																				0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		53	213	0	0	0	0.00361	0	53	213				
SLC16A9	220963	broad.mit.edu	37	10	61413889	61413889	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:61413889C>T	ENST00000395348.3	-	5	1531	c.895G>A	c.(895-897)Gct>Act	p.A299T	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A299T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	299					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTAAAAAGAGCCACAGTTTCA	0.368																																							uc010qig.1		NA																	0		p.A299A(1)		skin(2)|ovary(1)	3						c.(895-897)GCT>ACT		solute carrier family 16 (monocarboxylic acid							77.0	79.0	78.0					10																	61413889		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61413889C>T	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.895G>A	10.37:g.61413889C>T	ENSP00000378757:p.Ala299Thr						p.A299T	NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN			5	1344	-			299			Extracellular (Potential).		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.895G>A	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145735	0.37923	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.59364	0.27;0.27	4.92	-3.7	0.04437	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.715632	0.12889	N	0.430749	T	0.24967	0.0606	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09707	-1.0662	10	0.30854	T	0.27	.	1.7093	0.02888	0.2326:0.4196:0.1394:0.2083	.	299	Q7RTY1	MOT9_HUMAN	T	299	ENSP00000378757:A299T;ENSP00000378756:A299T	ENSP00000378756:A299T	A	-	1	0	SLC16A9	61083895	0.005000	0.15991	0.546000	0.28166	0.961000	0.63080	-0.134000	0.10436	-0.235000	0.09767	0.591000	0.81541	GCT		0.368	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		58	76	0	0	0	0.00361	0	58	76				
COL13A1	1305	broad.mit.edu	37	10	71681686	71681686	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:71681686C>A	ENST00000398978.3	+	21	1597	c.1105C>A	c.(1105-1107)Cag>Aag	p.Q369K	COL13A1_ENST00000357811.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000398971.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000517713.1_Missense_Mutation_p.Q347K|COL13A1_ENST00000356340.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000398966.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000398964.3_Missense_Mutation_p.Q340K|COL13A1_ENST00000398974.3_Missense_Mutation_p.Q357K|COL13A1_ENST00000520133.1_Missense_Mutation_p.Q318K|COL13A1_ENST00000522165.1_Missense_Mutation_p.Q350K|COL13A1_ENST00000354547.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000398972.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000398973.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000398968.3_Missense_Mutation_p.Q350K|COL13A1_ENST00000520267.1_Missense_Mutation_p.Q312K|COL13A1_ENST00000398969.3_Missense_Mutation_p.Q312K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCTCCTGGGGCAGAAGGTAGG	0.597																																							uc001jpr.1		NA																	0				ovary(1)	1						c.(1105-1107)CAG>AAG		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						48.0	55.0	53.0					10																	71681686		2053	4174	6227	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71681686C>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1105C>A	10.37:g.71681686C>A	ENSP00000381949:p.Gln369Lys					COL13A1_uc001jqj.1_Missense_Mutation_p.Q369K|COL13A1_uc001jps.1_Missense_Mutation_p.Q340K|COL13A1_uc001jpt.1_Missense_Mutation_p.Q328K|COL13A1_uc001jpu.1_Missense_Mutation_p.Q350K|COL13A1_uc001jpv.1_Missense_Mutation_p.Q369K|COL13A1_uc001jpx.1_Missense_Mutation_p.Q347K|COL13A1_uc001jpw.1_Missense_Mutation_p.Q316K|COL13A1_uc001jpy.1_Missense_Mutation_p.Q307K|COL13A1_uc001jpz.1_Missense_Mutation_p.Q312K|COL13A1_uc001jqa.1_Missense_Mutation_p.Q309K|COL13A1_uc001jqc.1_Missense_Mutation_p.Q369K|COL13A1_uc001jqb.1_Missense_Mutation_p.Q318K|COL13A1_uc001jql.2_Missense_Mutation_p.Q369K|COL13A1_uc001jqd.1_Missense_Mutation_p.Q357K|COL13A1_uc001jqe.1_Missense_Mutation_p.Q352K|COL13A1_uc001jqf.1_Missense_Mutation_p.Q350K|COL13A1_uc001jqg.1_Missense_Mutation_p.Q347K|COL13A1_uc001jqh.1_Missense_Mutation_p.Q369K|COL13A1_uc001jqi.1_Missense_Mutation_p.Q369K|COL13A1_uc010qjf.1_Missense_Mutation_p.Q159K|COL13A1_uc001jqk.1_Missense_Mutation_p.Q207K	p.Q369K	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			20	1641	+			369			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1105C>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060047	0.55325	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35	5.84	5.84	0.93424	.	0.433490	0.23371	N	0.048915	D	0.92743	0.7693	L	0.31578	0.945	0.35522	D	0.801537	B;P;D;B;P;B;P;B;P;B;D;P;P;P;P;P;P;P;P	0.56746	0.009;0.591;0.977;0.066;0.768;0.039;0.591;0.419;0.591;0.081;0.96;0.914;0.874;0.615;0.536;0.792;0.672;0.822;0.536	B;B;P;B;P;B;B;B;B;B;P;P;P;P;B;B;B;P;B	0.54924	0.025;0.413;0.721;0.033;0.634;0.014;0.413;0.266;0.286;0.055;0.764;0.501;0.546;0.489;0.289;0.318;0.289;0.497;0.289	D	0.92908	0.6345	10	0.27082	T	0.32	-0.0579	18.3225	0.90243	0.0:1.0:0.0:0.0	.	312;369;369;369;369;347;350;369;357;369;318;347;347;378;369;350;347;340;369	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	357;369;350;347;340;312;369;369;369;369;347;347;312;347;350;318	ENSP00000381946:Q357K;ENSP00000381943:Q369K;ENSP00000381940:Q350K;ENSP00000381938:Q347K;ENSP00000381936:Q340K;ENSP00000381941:Q312K;ENSP00000348695:Q369K;ENSP00000381944:Q369K;ENSP00000381945:Q369K;ENSP00000381949:Q369K;ENSP00000346553:Q347K;ENSP00000350463:Q347K;ENSP00000428057:Q312K;ENSP00000430061:Q347K;ENSP00000428342:Q350K;ENSP00000430173:Q318K	ENSP00000346553:Q347K	Q	+	1	0	COL13A1	71351692	0.998000	0.40836	0.999000	0.59377	0.783000	0.44284	2.003000	0.40844	2.754000	0.94517	0.655000	0.94253	CAG		0.597	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		14	13	1	0	1.49906e-05	0.00245	1.57289e-05	14	13				
PRF1	5551	broad.mit.edu	37	10	72360567	72360567	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:72360567C>T	ENST00000441259.1	-	2	252	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	PRF1_ENST00000373209.2_Missense_Mutation_p.C31Y	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	31	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCTGCGCTTGCACTCTGAGCG	0.682			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(91-93)TGC>TAC		perforin 1 precursor							24.0	25.0	25.0					10																	72360567		2197	4295	6492	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360567C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.92G>A	10.37:g.72360567C>T	ENSP00000398568:p.Cys31Tyr					PRF1_uc001jrf.3_Missense_Mutation_p.C31Y	p.C31Y	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	253	-			31			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.92G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537592	0.65085	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.97731	-4.51;-4.51	5.7	5.7	0.88788	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	-48.7161	17.3368	0.87283	0.0:1.0:0.0:0.0	.	31	P14222	PERF_HUMAN	Y	31	ENSP00000362305:C31Y;ENSP00000398568:C31Y	ENSP00000316746:C31Y	C	-	2	0	PRF1	72030573	1.000000	0.71417	0.991000	0.47740	0.053000	0.15095	6.707000	0.74654	2.679000	0.91253	0.655000	0.94253	TGC		0.682	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		24	20	0	0	0	0.004656	0	24	20				
DNAJC9	23234	broad.mit.edu	37	10	75005739	75005739	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:75005739G>A	ENST00000372950.4	-	3	2189	c.517C>T	c.(517-519)Cca>Tca	p.P173S	DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000479005.1_5'Flank|DNAJC9_ENST00000453189.2_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	173					social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TTATAGGATGGGACCTCTCCG	0.418																																							uc001jtr.2		NA																	0					0						c.(517-519)CCA>TCA		DnaJ homolog, subfamily C, member 9							88.0	84.0	85.0					10																	75005739		2203	4300	6503	SO:0001583	missense	23234				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:75005739G>A	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.517C>T	10.37:g.75005739G>A	ENSP00000362041:p.Pro173Ser					DNAJC9_uc010qkg.1_Missense_Mutation_p.P173S	p.P173S	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN			3	595	-	Prostate(51;0.0119)		173					B2RMW6	Missense_Mutation	SNP	ENST00000372950.4	37	c.517C>T	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945635	0.73672	.	.	ENSG00000213551	ENST00000372950	T	0.17691	2.26	4.88	4.88	0.63580	.	0.232207	0.43919	D	0.000502	T	0.41119	0.1145	M	0.77406	2.37	0.46336	D	0.998998	D	0.71674	0.998	D	0.64687	0.928	T	0.28459	-1.0043	10	0.44086	T	0.13	.	15.5859	0.76482	0.0:0.0:1.0:0.0	.	173	Q8WXX5	DNJC9_HUMAN	S	173	ENSP00000362041:P173S	ENSP00000362041:P173S	P	-	1	0	DNAJC9	74675745	1.000000	0.71417	0.237000	0.24090	0.789000	0.44602	4.890000	0.63178	2.268000	0.75426	0.586000	0.80456	CCA		0.418	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190		42	125	0	0	0	0.00874	0	42	125				
SYNPO2L	79933	broad.mit.edu	37	10	75407041	75407041	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:75407041G>C	ENST00000394810.2	-	4	2518	c.2369C>G	c.(2368-2370)tCt>tGt	p.S790C	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S566C	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	790	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGGGTAGGAGAAGGACTTCT	0.592																																							uc001jut.3		NA																	0				ovary(1)	1						c.(2368-2370)TCT>TGT		synaptopodin 2-like isoform a							120.0	135.0	130.0					10																	75407041		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407041G>C	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2369C>G	10.37:g.75407041G>C	ENSP00000378289:p.Ser790Cys					SYNPO2L_uc001jus.3_Missense_Mutation_p.S566C	p.S790C	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2521	-	Prostate(51;0.0112)		790			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2369C>G	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436303	0.62955	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.58060	0.36;0.57	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.81112	2.525	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79391	-0.1823	10	0.87932	D	0	-17.7597	17.5303	0.87813	0.0:0.0:1.0:0.0	.	790;566	Q9H987;Q9H987-2	SYP2L_HUMAN;.	C	566;790	ENSP00000361964:S566C;ENSP00000378289:S790C	ENSP00000361964:S566C	S	-	2	0	SYNPO2L	75077047	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	9.657000	0.98554	2.366000	0.80165	0.313000	0.20887	TCT		0.592	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		56	280	0	0	0	0.00361	0	56	280				
KAT6B	23522	broad.mit.edu	37	10	76788408	76788408	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:76788408C>T	ENST00000287239.4	+	18	4315	c.3826C>T	c.(3826-3828)Ccg>Tcg	p.P1276S	KAT6B_ENST00000372725.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372714.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372724.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372711.1_Missense_Mutation_p.P1093S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1276					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTTGTACACCCCGCCAGAAAC	0.483																																							uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(3826-3828)CCG>TCG		MYST histone acetyltransferase (monocytic							82.0	79.0	80.0					10																	76788408		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788408C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3826C>T	10.37:g.76788408C>T	ENSP00000287239:p.Pro1276Ser					MYST4_uc001jwo.1_Missense_Mutation_p.P984S|MYST4_uc001jwp.1_Missense_Mutation_p.P1093S	p.P1276S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4319	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1276					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3826C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653515	0.67472	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77358	-1.07;-1.07;-1.09;-1.07;-1.08	5.31	5.31	0.75309	.	0.000000	0.49916	D	0.000136	D	0.82527	0.5056	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.998;0.986	D	0.84481	0.0605	10	0.66056	D	0.02	-6.3003	17.1457	0.86766	0.0:1.0:0.0:0.0	.	1093;984;1276	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	984;984;1276;984;1093	ENSP00000361810:P984S;ENSP00000361809:P984S;ENSP00000287239:P1276S;ENSP00000361799:P984S;ENSP00000361796:P1093S	ENSP00000287239:P1276S	P	+	1	0	KAT6B	76458414	1.000000	0.71417	0.980000	0.43619	0.687000	0.40016	6.914000	0.75764	2.485000	0.83878	0.561000	0.74099	CCG		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		25	111	0	0	0	0.00333	0	25	111				
LRIT2	340745	broad.mit.edu	37	10	85984343	85984344	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:85984343_85984344TG>CT	ENST00000372113.4	-	2	642_643	c.637_638CA>AG	c.(637-639)CAg>AGg	p.Q213R	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q213R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	213	LRRCT.					integral component of membrane (GO:0016021)		p.Q213K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CTTGACAAACTGGACAAGCCCC	0.559																																							uc001kcy.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(2)	2						c.(637-639)CAG>AGG		leucine rich repeat containing 22 precursor																																				SO:0001583	missense	340745					integral to membrane		g.chr10:85984343_85984344TG>CT		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.637_638delinsCT	10.37:g.85984343_85984344delinsCT	ENSP00000361185:p.Gln213Arg					LRIT2_uc010qmc.1_Missense_Mutation_p.Q213R	p.Q213R	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	645_646	-			213			LRRCT.		B7ZME6	Missense_Mutation	DNP	ENST00000372113.4	37	c.637_638CA>AG	CCDS31234.1																																																																																				0.559	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		8	110	0	0	0	0.004672	0	8	110				
GRID1	2894	broad.mit.edu	37	10	87362310	87362310	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:87362310G>C	ENST00000327946.7	-	16	2835	c.2750C>G	c.(2749-2751)aCa>aGa	p.T917R	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.T488R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	917					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTACTCCCGTGTCGGCTCCAA	0.612										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2749-2751)ACA>AGA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						46.0	43.0	44.0					10																	87362310		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362310G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2750C>G	10.37:g.87362310G>C	ENSP00000330148:p.Thr917Arg	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.T488R|uc001kdk.1_Intron	p.T917R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			16	2851	-			917			Cytoplasmic (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2750C>G	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417772	0.25552	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14391	2.73;2.51	5.74	4.73	0.59995	.	1.304070	0.04607	N	0.399546	T	0.06872	0.0175	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.17167	-1.0378	10	0.31617	T	0.26	.	4.2875	0.10862	0.2866:0.0:0.7134:0.0	.	917	Q9ULK0	GRID1_HUMAN	R	917;488	ENSP00000330148:T917R;ENSP00000444455:T488R	ENSP00000330148:T917R	T	-	2	0	GRID1	87352290	0.035000	0.19736	0.040000	0.18447	0.539000	0.34962	2.415000	0.44635	2.703000	0.92315	0.591000	0.81541	ACA		0.612	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		10	58	0	0	0	0.006214	0	10	58				
OPN4	94233	broad.mit.edu	37	10	88419123	88419123	+	Missense_Mutation	SNP	G	G	T	rs376729483		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:88419123G>T	ENST00000241891.5	+	5	865	c.698G>T	c.(697-699)cGt>cTt	p.R233L	OPN4_ENST00000372071.2_Missense_Mutation_p.R244L	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	233					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCGGCCGTGCGTGCCTACACC	0.592																																							uc001kdq.2		NA																	0				ovary(1)	1						c.(697-699)CGT>CTT		opsin 4 isoform 1		G	LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	237.0	177.0	197.0		731,698	5.2	0.1	10		197	0,8600		0,0,4300	no	missense,missense	OPN4	NM_001030015.2,NM_033282.3	102,102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	244/490,233/479	88419123	1,13005	2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419123G>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.698G>T	10.37:g.88419123G>T	ENSP00000241891:p.Arg233Leu					OPN4_uc001kdp.2_Missense_Mutation_p.R244L|OPN4_uc010qmk.1_Missense_Mutation_p.R244L|OPN4_uc009xsx.1_5'Flank	p.R233L	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN			5	925	+			233			Extracellular (Potential).		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.698G>T	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407909	0.83340	2.27E-4	0.0	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.37058	1.22;1.22;1.22	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.073461	0.52532	D	0.000078	T	0.64505	0.2604	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.993;0.999	T	0.69665	-0.5084	10	0.72032	D	0.01	.	18.6376	0.91384	0.0:0.0:1.0:0.0	.	244;233;244	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	L	244;233;244	ENSP00000361141:R244L;ENSP00000241891:R233L;ENSP00000393132:R244L	ENSP00000241891:R233L	R	+	2	0	OPN4	88409103	1.000000	0.71417	0.100000	0.21137	0.503000	0.33858	9.600000	0.98282	2.397000	0.81536	0.655000	0.94253	CGT		0.592	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		40	123	1	0	5.48756e-27	0.011902	7.52141e-27	40	123				
IFIT1B	439996	broad.mit.edu	37	10	91144305	91144305	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:91144305C>T	ENST00000371809.3	+	2	1315	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	412										endometrium(2)|large_intestine(3)|lung(8)	13						GAAAAAATGTCCCATTCCAGG	0.383																																							uc001kgh.2		NA																	0					0						c.(1234-1236)TCC>TTC		interferon-induced protein with							86.0	90.0	89.0					10																	91144305		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91144305C>T		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1235C>T	10.37:g.91144305C>T	ENSP00000360874:p.Ser412Phe					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.S412F	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	1315	+			412			TPR 7.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.1235C>T	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063497	0.36373	.	.	ENSG00000204010	ENST00000371809	T	0.37584	1.19	3.72	1.83	0.25207	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.199991	0.44688	D	0.000438	T	0.40196	0.1107	M	0.81112	2.525	0.09310	N	1	P	0.36712	0.566	B	0.41764	0.366	T	0.30297	-0.9983	10	0.48119	T	0.1	.	5.6197	0.17450	0.0:0.5312:0.2798:0.189	.	412	Q5T764	IFT1B_HUMAN	F	412	ENSP00000360874:S412F	ENSP00000360874:S412F	S	+	2	0	IFIT1B	91134285	0.003000	0.15002	0.001000	0.08648	0.469000	0.32828	0.737000	0.26144	0.365000	0.24400	0.558000	0.71614	TCC		0.383	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		72	81	0	0	0	0.00361	0	72	81				
ANKRD1	27063	broad.mit.edu	37	10	92679928	92679928	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:92679928C>T	ENST00000371697.3	-	2	453	c.205G>A	c.(205-207)Gag>Aag	p.E69K	RNU6-740P_ENST00000364734.1_RNA	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	69					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCTCTCACCTCTGCCTCTCGT	0.502																																							uc001khe.1		NA																	0					0						c.(205-207)GAG>AAG		cardiac ankyrin repeat protein							188.0	169.0	175.0					10																	92679928		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92679928C>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.205G>A	10.37:g.92679928C>T	ENSP00000360762:p.Glu69Lys						p.E69K	NM_014391	NP_055206	Q15327	ANKR1_HUMAN			2	453	-		Colorectal(252;0.0475)	69			Potential.		Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.205G>A	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025510	0.93518	.	.	ENSG00000148677	ENST00000371697	T	0.68331	-0.32	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	L	0.36672	1.1	0.48395	D	0.999644	B	0.29188	0.236	B	0.24848	0.056	T	0.52931	-0.8509	10	0.14656	T	0.56	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	69	Q15327	ANKR1_HUMAN	K	69	ENSP00000360762:E69K	ENSP00000360762:E69K	E	-	1	0	ANKRD1	92669908	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.813000	0.69201	2.879000	0.98667	0.650000	0.86243	GAG		0.502	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		56	192	0	0	0	0.00361	0	56	192				
PIPSL	266971	broad.mit.edu	37	10	95720628	95720628	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:95720628G>A	ENST00000480546.1	-	0	669					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACACAGTACAGTCCATAGAAT	0.433																																							uc009xuj.2		NA																	0					0						c.(526-528)CTG>TTG		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																						266971							g.chr10:95720628G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720628G>A							p.L176L	NR_002319						1	1045	-								Q6NUK8	Silent	SNP	ENST00000480546.1	37	c.526C>T																																																																																					0.433	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		16	156	0	0	0	0.008871	0	16	156				
PIK3AP1	118788	broad.mit.edu	37	10	98380134	98380134	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:98380134C>T	ENST00000339364.5	-	12	2035	c.1916G>A	c.(1915-1917)cGa>cAa	p.R639Q	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R238Q|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R461Q|RNA5SP324_ENST00000365177.1_RNA	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	639					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGACTCCGATCGTTTCTTCTG	0.522																																							uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1915-1917)CGA>CAA		phosphoinositide-3-kinase adaptor protein 1							146.0	141.0	143.0					10																	98380134		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98380134C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1916G>A	10.37:g.98380134C>T	ENSP00000339826:p.Arg639Gln					PIK3AP1_uc001kmo.2_Missense_Mutation_p.R238Q|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R461Q	p.R639Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	12	2044	-		Colorectal(252;0.0442)	639					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1916G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878367	0.97055	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.42900	0.96;0.96;0.96	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.61477	0.889;0.889	T	0.58002	-0.7713	10	0.48119	T	0.1	-14.7954	19.2253	0.93816	0.0:1.0:0.0:0.0	.	639;238	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	Q	639;461;238	ENSP00000339826:R639Q;ENSP00000360151:R461Q;ENSP00000360150:R238Q	ENSP00000339826:R639Q	R	-	2	0	PIK3AP1	98370124	1.000000	0.71417	0.969000	0.41365	0.989000	0.77384	7.752000	0.85141	2.788000	0.95919	0.555000	0.69702	CGA		0.522	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		154	166	0	0	0	0.00361	0	154	166				
HPS1	3257	broad.mit.edu	37	10	100189563	100189563	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:100189563C>T	ENST00000325103.6	-	9	1085	c.852G>A	c.(850-852)ggG>ggA	p.G284G	MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Silent_p.G284G|HPS1_ENST00000338546.5_Silent_p.G284G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	284					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGCAGAGCTCCCCCCAGTTG	0.692									Hermansky-Pudlak syndrome																														uc010qpf.1		NA																	0				skin(1)	1						c.(850-852)GGG>GGA		Hermansky-Pudlak syndrome 1 protein isoform a							81.0	86.0	84.0					10																	100189563		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189563C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.852G>A	10.37:g.100189563C>T						HPS1_uc001kpi.1_Silent_p.G284G|HPS1_uc001kpj.1_Intron|HPS1_uc001kpk.1_Intron|HPS1_uc009xwb.2_Intron|HPS1_uc010qph.1_Silent_p.G284G|HPS1_uc001kpl.2_Silent_p.G284G	p.G284G	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	9	1098	-		Colorectal(252;0.234)	284					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.852G>A	CCDS7475.1																																																																																				0.692	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		33	152	0	0	0	0.007835	0	33	152				
BTRC	8945	broad.mit.edu	37	10	103294514	103294514	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:103294514C>T	ENST00000370187.3	+	10	1312	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	BTRC_ENST00000408038.2_Silent_p.T362T|BTRC_ENST00000393441.4_Silent_p.T357T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	398					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGATGGTGACCTGCTCCAAAG	0.493																																							uc001kta.2		NA																	0				ovary(1)	1						c.(1192-1194)ACC>ACT		beta-transducin repeat containing protein							291.0	231.0	251.0					10																	103294514		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103294514C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1194C>T	10.37:g.103294514C>T						BTRC_uc001ktb.2_Silent_p.T362T|BTRC_uc001ktc.2_Silent_p.T372T	p.T398T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	10	1307	+		Colorectal(252;0.234)	398			WD 3.		B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.1194C>T	CCDS7512.1																																																																																				0.493	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		13	293	0	0	0	0.00245	0	13	293				
KCNIP2	30819	broad.mit.edu	37	10	103588945	103588945	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:103588945C>T	ENST00000356640.2	-	4	510	c.235G>A	c.(235-237)Gat>Aat	p.D79N	KCNIP2_ENST00000343195.4_Missense_Mutation_p.D29N|KCNIP2_ENST00000370046.1_Missense_Mutation_p.D29N|KCNIP2_ENST00000461105.1_Missense_Mutation_p.D94N|KCNIP2_ENST00000348850.5_Missense_Mutation_p.D34N|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000353068.3_Missense_Mutation_p.D29N|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000358038.3_Missense_Mutation_p.D61N	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	79					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TCAAATTCATCGTCCACGCTG	0.632																																							uc001kub.2		NA																	0					0						c.(235-237)GAT>AAT		Kv channel interacting protein 2 isoform 2							60.0	49.0	53.0					10																	103588945		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588945C>T		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.235G>A	10.37:g.103588945C>T	ENSP00000349055:p.Asp79Asn					KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_5'UTR|KCNIP2_uc001ktz.2_Missense_Mutation_p.D34N|KCNIP2_uc009xwu.2_Missense_Mutation_p.D29N|KCNIP2_uc009xwv.2_Missense_Mutation_p.D29N|KCNIP2_uc001kuc.2_Missense_Mutation_p.D94N|KCNIP2_uc001kue.2_Missense_Mutation_p.D61N|KCNIP2_uc001kud.2_Missense_Mutation_p.D29N|KCNIP2_uc001kuf.2_Missense_Mutation_p.D29N|KCNIP2_uc001kua.2_5'UTR|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.D34N|KCNIP2_uc010qqi.1_Missense_Mutation_p.D29N	p.D79N	NM_173191	NP_775283	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	4	587	-		Colorectal(252;0.122)	79					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.235G>A	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652190	0.88056	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T;T;T;T;T;T;T;T	0.70869	-0.25;-0.35;-0.48;-0.37;-0.35;-0.52;-0.34;-0.38	4.86	4.86	0.63082	.	0.196755	0.42294	D	0.000726	T	0.63861	0.2547	L	0.42245	1.32	0.58432	D	0.999999	B;P;B;B;B;B;B;B;B;B	0.44627	0.055;0.839;0.021;0.012;0.021;0.351;0.071;0.093;0.172;0.291	B;B;B;B;B;B;B;B;B;B	0.37267	0.035;0.199;0.018;0.008;0.018;0.245;0.056;0.155;0.04;0.027	T	0.71735	-0.4503	10	0.87932	D	0	.	17.5997	0.88022	0.0:1.0:0.0:0.0	.	29;34;29;29;29;61;29;94;79;34	Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6	.;.;.;.;.;.;.;.;KCIP2_HUMAN;.	N	34;61;61;79;29;29;94;29;29	ENSP00000239118:D34N;ENSP00000350733:D61N;ENSP00000349055:D79N;ENSP00000359063:D29N;ENSP00000341624:D29N;ENSP00000420040:D94N;ENSP00000344169:D29N;ENSP00000239117:D29N	ENSP00000239117:D29N	D	-	1	0	KCNIP2	103578935	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.274000	0.51631	2.261000	0.74972	0.561000	0.74099	GAT		0.632	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			4	34	0	0	0	0.009096	0	4	34				
ACTR1A	10121	broad.mit.edu	37	10	104241875	104241875	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:104241875C>T	ENST00000369905.4	-	8	871	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ACTR1A_ENST00000545684.1_Missense_Mutation_p.E196K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E223K|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E270K|RP11-18I14.11_ENST00000608017.1_RNA	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	270					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCACTCTCCTCTCCAATCAAA	0.572																																							uc001kvv.2		NA																	0				central_nervous_system(1)	1						c.(808-810)GAG>AAG		ARP1 actin-related protein 1 homolog A,							114.0	121.0	119.0					10																	104241875		2203	4300	6503	SO:0001583	missense	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104241875C>T	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.808G>A	10.37:g.104241875C>T	ENSP00000358921:p.Glu270Lys					ACTR1A_uc010qqn.1_Missense_Mutation_p.E196K|ACTR1A_uc010qqo.1_Missense_Mutation_p.E223K	p.E270K	NM_005736	NP_005727	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	8	916	-		Colorectal(252;0.122)	270					B2R6B0|P42024	Missense_Mutation	SNP	ENST00000369905.4	37	c.808G>A	CCDS7536.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524578	0.27299	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.94330	-3.4;-3.4;-3.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	N	0.16602	0.42	0.80722	D	1	B	0.21225	0.053	B	0.35353	0.201	D	0.86602	0.1867	10	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	270	P61163	ACTZ_HUMAN	K	270;196;223	ENSP00000358921:E270K;ENSP00000438890:E196K;ENSP00000406028:E223K	ENSP00000358921:E270K	E	-	1	0	ACTR1A	104231865	1.000000	0.71417	0.967000	0.41034	0.218000	0.24690	6.065000	0.71176	2.815000	0.96918	0.561000	0.74099	GAG		0.572	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			48	221	0	0	0	0.00361	0	48	221				
CALHM1	255022	broad.mit.edu	37	10	105215366	105215366	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105215366C>A	ENST00000329905.5	-	2	830	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	232					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CACGTCTCGTCGAAGAGCTTG	0.602																																							uc001kxe.2		NA																	0				ovary(1)	1						c.(694-696)GAC>TAC		calcium homeostasis modulator 1							84.0	68.0	74.0					10																	105215366		2203	4300	6503	SO:0001583	missense	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215366C>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.694G>T	10.37:g.105215366C>A	ENSP00000329926:p.Asp232Tyr					CALHM2_uc001kxd.1_5'Flank	p.D232Y	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN			2	834	-			232					Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	c.694G>T	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854195	0.91355	.	.	ENSG00000185933	ENST00000329905	T	0.20200	2.09	5.43	5.43	0.79202	.	0.051560	0.85682	D	0.000000	T	0.50922	0.1644	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54443	-0.8293	10	0.87932	D	0	-28.5084	19.2214	0.93797	0.0:1.0:0.0:0.0	.	232	Q8IU99	CAHM1_HUMAN	Y	232	ENSP00000329926:D232Y	ENSP00000329926:D232Y	D	-	1	0	CALHM1	105205356	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	7.332000	0.79203	2.541000	0.85698	0.462000	0.41574	GAC		0.602	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		53	34	1	0	5.76465e-13	0.00361	6.74953e-13	53	34				
NEURL1	9148	broad.mit.edu	37	10	105330648	105330648	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105330648C>T	ENST00000369780.4	+	2	514	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NEURL_ENST00000369777.2_Silent_p.F18F	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		35					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGGCCCCTTCCCCGTCACTT	0.652																																							uc001kxh.2		NA																	0					0						c.(103-105)TTC>TTT		neuralized-like							110.0	128.0	122.0					10																	105330648		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330648C>T																												ENST00000369780.4:c.105C>T	10.37:g.105330648C>T							p.F35F	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	515	+			35					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.105C>T	CCDS7551.1																																																																																				0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			19	403	0	0	0	0.007413	0	19	403				
NEURL1	9148	broad.mit.edu	37	10	105330828	105330828	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105330828C>G	ENST00000369780.4	+	2	694	c.285C>G	c.(283-285)ttC>ttG	p.F95L	NEURL_ENST00000369777.2_Missense_Mutation_p.F78L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		95	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCATCACCTTCAGCAACCGCC	0.652																																							uc001kxh.2		NA																	0					0						c.(283-285)TTC>TTG		neuralized-like							57.0	50.0	52.0					10																	105330828		2203	4299	6502	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330828C>G																												ENST00000369780.4:c.285C>G	10.37:g.105330828C>G	ENSP00000358795:p.Phe95Leu						p.F95L	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	695	+			95			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.285C>G	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533789	0.85812	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	.	.	.	5.23	4.32	0.51571	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.88181	2.935	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.82151	-0.0599	9	0.56958	D	0.05	-2.4397	10.8876	0.46976	0.0:0.848:0.0:0.152	.	95	O76050	NEU1A_HUMAN	L	95;78;78;20	.	ENSP00000358792:F78L	F	+	3	2	NEURL	105320818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.577000	0.60922	1.176000	0.42840	0.561000	0.74099	TTC		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			4	103	0	0	0	0.009096	0	4	103				
SORCS1	114815	broad.mit.edu	37	10	108367034	108367034	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:108367034G>C	ENST00000263054.6	-	23	3062	c.3055C>G	c.(3055-3057)Cac>Gac	p.H1019D	SORCS1_ENST00000344440.6_Missense_Mutation_p.H1019D|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.H554D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1019					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCAGGATGTGCTGGCCTGGA	0.547																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3055-3057)CAC>GAC		SORCS receptor 1 isoform a							60.0	58.0	59.0					10																	108367034		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108367034G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3055C>G	10.37:g.108367034G>C	ENSP00000263054:p.His1019Asp					SORCS1_uc001kyl.2_Missense_Mutation_p.H1019D|SORCS1_uc009xxs.2_Missense_Mutation_p.H1019D|SORCS1_uc001kyn.1_Missense_Mutation_p.H1019D|SORCS1_uc001kyo.2_Missense_Mutation_p.H1019D	p.H1019D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3063	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1019			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3055C>G	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.196197|2.196197	0.38806|0.38806	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.21543|.	2.0;2.56;2.56|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.056633|.	0.64402|.	D|.	0.000001|.	T|T	0.70272|0.70272	0.3205|0.3205	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999997|0.999997	B;P;P;B;P|.	0.34587|.	0.329;0.458;0.458;0.329;0.458|.	B;B;B;B;B|.	0.41271|.	0.191;0.352;0.352;0.191;0.352|.	T|T	0.64390|0.64390	-0.6419|-0.6419	9|5	.|.	.|.	.|.	-27.1026|-27.1026	19.9164|19.9164	0.97064|0.97064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1019;1019;1019;1019;1019|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	D|R	554;1019;1019|33	ENSP00000358712:H554D;ENSP00000263054:H1019D;ENSP00000345964:H1019D|.	.|.	H|S	-|-	1|3	0|2	SORCS1|SORCS1	108357024|108357024	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.451000|0.451000	0.32288|0.32288	6.667000|6.667000	0.74451|0.74451	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	CAC|AGC		0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		21	61	0	0	0	0.010504	0	21	61				
ADRA2A	150	broad.mit.edu	37	10	112838931	112838931	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:112838931G>T	ENST00000280155.2	+	1	2142	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	378					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTGCTGGCCGTGGTCATCGG	0.677																																					Esophageal Squamous(173;605 2658 7278 49362)	Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NA																	0					0						c.(1177-1179)GTG>TTG		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						130.0	105.0	114.0					10																	112838931		2203	4300	6503	SO:0001583	missense	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112838931G>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1177G>T	10.37:g.112838931G>T	ENSP00000280155:p.Val393Leu						p.V393L	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2142	+		Breast(234;0.0735)|Lung NSC(174;0.238)	378			Helical; Name=6; (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	c.1177G>T	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664089	0.88251	.	.	ENSG00000150594	ENST00000280155	T	0.39406	1.08	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.61776	0.2374	M	0.68728	2.09	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.67647	-0.5617	10	0.62326	D	0.03	.	15.2452	0.73502	0.0:0.0:1.0:0.0	.	378	P08913	ADA2A_HUMAN	L	393	ENSP00000280155:V393L	ENSP00000280155:V393L	V	+	1	0	ADRA2A	112828921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.135000	0.94478	1.839000	0.53478	0.462000	0.41574	GTG		0.677	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		27	92	1	0	7.38237e-10	0.00632	8.33493e-10	27	92				
AFAP1L2	84632	broad.mit.edu	37	10	116061184	116061184	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:116061184C>T	ENST00000304129.4	-	13	1500	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.D491N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D544N			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	491					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGCAGGCCATCGATGTAAGTG	0.612																																							uc001lbn.2		NA																	0				ovary(1)|breast(1)	2						c.(1471-1473)GAT>AAT		KIAA1914 protein isoform 1							109.0	96.0	100.0					10																	116061184		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116061184C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1471G>A	10.37:g.116061184C>T	ENSP00000303042:p.Asp491Asn					AFAP1L2_uc001lbo.2_Missense_Mutation_p.D491N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D544N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D519N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D491N|AFAP1L2_uc001lbm.2_Missense_Mutation_p.D13N|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D57N|AFAP1L2_uc001lbq.1_Missense_Mutation_p.D13N	p.D491N	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	13	1772	-		Colorectal(252;0.175)|Breast(234;0.231)	491					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1471G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839304	0.91117	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.23147	1.93;1.94;1.92	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;1.0	D;D;D;D;P;D;D	0.97110	1.0;1.0;1.0;1.0;0.889;1.0;1.0	T	0.47302	-0.9128	10	0.27082	T	0.32	-28.5013	17.0318	0.86463	0.0:1.0:0.0:0.0	.	544;57;545;13;519;491;491	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	N	491;491;518;544	ENSP00000358276:D491N;ENSP00000303042:D491N;ENSP00000444511:D544N	ENSP00000303042:D491N	D	-	1	0	AFAP1L2	116051174	1.000000	0.71417	0.935000	0.37517	0.992000	0.81027	5.886000	0.69743	2.431000	0.82371	0.563000	0.77884	GAT		0.612	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		28	99	0	0	0	0.003271	0	28	99				
ATRNL1	26033	broad.mit.edu	37	10	117075071	117075071	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:117075071A>G	ENST00000355044.3	+	18	2988	c.2862A>G	c.(2860-2862)gaA>gaG	p.E954E	ATRNL1_ENST00000423111.2_Silent_p.E51E|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	954	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTGTTTGGAACAGCCTGGAT	0.418																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2860-2862)GAA>GAG		attractin-like 1 precursor							126.0	113.0	117.0					10																	117075071		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117075071A>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2862A>G	10.37:g.117075071A>G						ATRNL1_uc010qsm.1_Silent_p.E129E|ATRNL1_uc010qsn.1_RNA	p.E954E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	18	3248	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	954			PSI 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2862A>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	9.340	1.062869	0.19987	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.34	-4.41	0.03590	.	.	.	.	.	T	0.65688	0.2715	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64820	-0.6317	4	.	.	.	-20.4671	16.4181	0.83750	0.3898:0.0:0.6102:0.0	.	.	.	.	A	84	.	.	T	+	1	0	ATRNL1	117065061	0.988000	0.35896	0.891000	0.34965	0.970000	0.65996	0.348000	0.20031	-1.234000	0.02548	-0.475000	0.04921	ACA		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		51	70	0	0	0	0.00361	0	51	70				
GFRA1	2674	broad.mit.edu	37	10	117853292	117853292	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:117853292C>A	ENST00000355422.6	-	8	1486	c.936G>T	c.(934-936)tgG>tgT	p.W312C	GFRA1_ENST00000544592.1_Missense_Mutation_p.W191C|GFRA1_ENST00000439649.3_Missense_Mutation_p.W307C|GFRA1_ENST00000369236.1_Missense_Mutation_p.W307C	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	312					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAGTCACACCATGGGGCCA	0.393																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(934-936)TGG>TGT		GDNF family receptor alpha 1 isoform a							89.0	86.0	87.0					10																	117853292		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117853292C>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.936G>T	10.37:g.117853292C>A	ENSP00000347591:p.Trp312Cys					GFRA1_uc001lci.2_Missense_Mutation_p.W307C|GFRA1_uc009xyr.2_Missense_Mutation_p.W307C	p.W312C	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	8	1634	-		Lung NSC(174;0.21)	312			3.		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.936G>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567076	0.65651	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.52526	1.26;0.66	5.82	5.82	0.92795	GDNF/GAS1 (2);	0.259435	0.48767	D	0.000177	T	0.73210	0.3558	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.96	T	0.75947	-0.3138	10	0.87932	D	0	-21.1578	20.0979	0.97857	0.0:1.0:0.0:0.0	.	312;307	P56159;P56159-2	GFRA1_HUMAN;.	C	312;307;307;191;307	ENSP00000358239:W307C;ENSP00000442179:W191C	ENSP00000347591:W307C	W	-	3	0	GFRA1	117843282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.842000	0.48230	2.761000	0.94854	0.591000	0.81541	TGG		0.393	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		18	84	1	0	5.01169e-05	0.00499	5.2361e-05	18	84				
TACC2	10579	broad.mit.edu	37	10	123844559	123844559	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:123844559G>T	ENST00000369005.1	+	4	2884	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H	TACC2_ENST00000453444.2_Missense_Mutation_p.Q848H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.Q848H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q848H|TACC2_ENST00000515273.1_Missense_Mutation_p.Q848H|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	848					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAAGGAGCAGGCCCAGCCAC	0.532																																							uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2542-2544)CAG>CAT		transforming, acidic coiled-coil containing							134.0	135.0	135.0					10																	123844559		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844559G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2544G>T	10.37:g.123844559G>T	ENSP00000358001:p.Gln848His					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.Q848H|TACC2_uc010qtv.1_Missense_Mutation_p.Q848H	p.Q848H	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2904	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	848					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2544G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747879	0.30955	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.07;4.06;4.06;4.07;4.06	5.66	-0.936	0.10419	.	0.874477	0.09501	N	0.793656	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	P;P;P	0.42337	0.776;0.776;0.776	B;B;B	0.34652	0.187;0.187;0.187	T	0.44050	-0.9353	10	0.51188	T	0.08	-2.8304	2.1438	0.03782	0.305:0.1229:0.4462:0.1259	.	848;848;848	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	H	848;848;848;848;848;838	ENSP00000358001:Q848H;ENSP00000424467:Q848H;ENSP00000427618:Q848H;ENSP00000334280:Q848H;ENSP00000395048:Q848H	ENSP00000334280:Q848H	Q	+	3	2	TACC2	123834549	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.046000	0.11983	0.349000	0.23975	-0.275000	0.10095	CAG		0.532	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			79	104	1	0	7.63117e-38	0.00361	1.10958e-37	79	104				
C10orf120	399814	broad.mit.edu	37	10	124457976	124457976	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:124457976G>C	ENST00000329446.4	-	3	312	c.281C>G	c.(280-282)gCa>gGa	p.A94G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	94										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AAGCCTTCTTGCTGCTATGGT	0.463																																							uc001lgn.2		NA																	0				kidney(1)	1						c.(280-282)GCA>GGA		hypothetical protein LOC399814							210.0	220.0	217.0					10																	124457976		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457976G>C		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.281C>G	10.37:g.124457976G>C	ENSP00000331012:p.Ala94Gly						p.A94G	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	313	-		all_neural(114;0.169)|Glioma(114;0.222)	94					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.281C>G	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.763594|3.763594	0.69878|0.69878	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000329446|ENST00000432000	T|.	0.45276|.	0.9|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.721113|.	0.12514|.	N|.	0.462218|.	T|T	0.59376|0.59376	0.2189|0.2189	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	0.999993|0.999993	P|.	0.50156|.	0.932|.	P|.	0.45856|.	0.495|.	T|T	0.53107|0.53107	-0.8485|-0.8485	10|5	0.66056|.	D|.	0.02|.	-7.3098|-7.3098	13.6001|13.6001	0.62013|0.62013	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	94|.	Q5SQS8|.	CJ120_HUMAN|.	G|E	94|87	ENSP00000331012:A94G|.	ENSP00000331012:A94G|.	A|Q	-|-	2|1	0|0	C10orf120|C10orf120	124447966|124447966	0.066000|0.066000	0.20996|0.20996	0.237000|0.237000	0.24090|0.24090	0.885000|0.885000	0.51271|0.51271	3.894000|3.894000	0.56250|0.56250	2.652000|2.652000	0.90054|0.90054	0.603000|0.603000	0.83216|0.83216	GCA|CAA		0.463	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		242	280	0	0	0	0.00361	0	242	280				
BCCIP	56647	broad.mit.edu	37	10	127512263	127512263	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:127512263A>G	ENST00000278100.6	+	1	149	c.137A>G	c.(136-138)aAg>aGg	p.K46R	UROS_ENST00000368774.1_5'Flank|BCCIP_ENST00000368759.5_Missense_Mutation_p.K46R|BCCIP_ENST00000299130.3_Missense_Mutation_p.K46R|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368797.4_5'Flank|BCCIP_ENST00000429863.2_Missense_Mutation_p.K46R	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	46					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				gacaaggaaaaggatgaagag	0.512																																							uc001ljb.3		NA																	0				ovary(1)|breast(1)	2						c.(136-138)AAG>AGG		BRCA2 and CDKN1A-interacting protein isoform							196.0	168.0	177.0					10																	127512263		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512263A>G	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.137A>G	10.37:g.127512263A>G	ENSP00000278100:p.Lys46Arg					BCCIP_uc001ljd.3_Missense_Mutation_p.K46R|UROS_uc001lix.3_5'Flank|UROS_uc001liy.3_5'Flank|BCCIP_uc010qui.1_Missense_Mutation_p.K46R|BCCIP_uc001ljc.3_Missense_Mutation_p.K46R|BCCIP_uc010quj.1_Missense_Mutation_p.K46R	p.K46R	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			1	160	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	46					B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.137A>G	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	A	9.329	1.060133	0.19987	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.44482	0.95;0.93;0.92;0.93	4.21	4.21	0.49690	.	0.698919	0.13674	N	0.370670	T	0.22820	0.0551	N	0.08118	0	0.20074	N	0.999931	B;B;B;B;B	0.22146	0.039;0.039;0.065;0.065;0.039	B;B;B;B;B	0.19946	0.012;0.012;0.027;0.027;0.007	T	0.12167	-1.0558	10	0.29301	T	0.29	-1.8221	9.6258	0.39750	1.0:0.0:0.0:0.0	.	46;46;46;46;46	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	R	46	ENSP00000278100:K46R;ENSP00000299130:K46R;ENSP00000357748:K46R;ENSP00000394758:K46R	ENSP00000278100:K46R	K	+	2	0	BCCIP	127502253	0.993000	0.37304	0.913000	0.36048	0.015000	0.08874	4.074000	0.57577	1.783000	0.52377	0.459000	0.35465	AAG		0.512	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			3	132	0	0	0	0.004672	0	3	132				
B4GALNT4	338707	broad.mit.edu	37	11	375893	375893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:375893C>A	ENST00000329962.6	+	11	1032	c.1032C>A	c.(1030-1032)tgC>tgA	p.C344*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	344					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCCCTGCGCCTACGCCC	0.677																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(1030-1032)TGC>TGA		beta							38.0	30.0	33.0					11																	375893		2189	4293	6482	SO:0001587	stop_gained	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375893C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1032C>A	11.37:g.375893C>A	ENSP00000328277:p.Cys344*						p.C344*	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1041	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	344			Lumenal (Potential).		Q96LV2	Nonsense_Mutation	SNP	ENST00000329962.6	37	c.1032C>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.729075	0.69074	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.61	-1.91	0.07641	.	0.497608	0.21124	N	0.079776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.2046	10.687	0.45850	0.0:0.4264:0.0:0.5736	.	.	.	.	X	344	.	ENSP00000328277:C344X	C	+	3	2	B4GALNT4	365893	0.000000	0.05858	0.919000	0.36401	0.567000	0.35839	-1.241000	0.02911	-0.580000	0.05944	-1.579000	0.00862	TGC		0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		7	28	1	0	2.7689e-08	0.001984	3.04547e-08	7	28				
B4GALNT4	338707	broad.mit.edu	37	11	379880	379880	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379880C>A	ENST00000329962.6	+	16	2503	c.2503C>A	c.(2503-2505)Cgg>Agg	p.R835R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	835					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAACCAGGCACGGTGGGTGGC	0.642																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(2503-2505)CGG>AGG		beta							31.0	31.0	31.0					11																	379880		2202	4300	6502	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379880C>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2503C>A	11.37:g.379880C>A							p.R835R	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2512	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	835			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.2503C>A	CCDS7694.1																																																																																				0.642	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		12	37	1	0	7.93312e-07	0.00245	8.58108e-07	12	37				
B4GALNT4	338707	broad.mit.edu	37	11	379894	379894	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379894G>A	ENST00000329962.6	+	16	2517	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	839					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTGGCACAGTTCCTGGCGG	0.657																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(2515-2517)CAG>CAA		beta							33.0	34.0	34.0					11																	379894		2203	4300	6503	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379894G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2517G>A	11.37:g.379894G>A							p.Q839Q	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2526	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	839			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.2517G>A	CCDS7694.1																																																																																				0.657	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		14	41	0	0	0	0.004007	0	14	41				
B4GALNT4	338707	broad.mit.edu	37	11	379903	379903	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379903G>A	ENST00000329962.6	+	16	2526	c.2526G>A	c.(2524-2526)gcG>gcA	p.A842A		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	842					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCCTGGCGGACATGGCTG	0.677																																							uc001lpb.2		NA																	0				pancreas(1)	1						c.(2524-2526)GCG>GCA		beta							33.0	34.0	34.0					11																	379903		2203	4299	6502	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379903G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2526G>A	11.37:g.379903G>A							p.A842A	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	2535	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	842			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.2526G>A	CCDS7694.1																																																																																				0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		15	43	0	0	0	0.00499	0	15	43				
EPS8L2	64787	broad.mit.edu	37	11	720113	720113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:720113G>T	ENST00000533256.1	+	6	592	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	EPS8L2_ENST00000318562.8_Missense_Mutation_p.D73Y|EPS8L2_ENST00000526198.1_Missense_Mutation_p.D73Y|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.D73Y			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	73	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGTGGACGACGCCATCCG	0.612																																							uc001lqt.2		NA																	0				pancreas(1)	1						c.(217-219)GAC>TAC		epidermal growth factor receptor pathway							76.0	54.0	61.0					11																	720113		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:720113G>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.217G>T	11.37:g.720113G>T	ENSP00000435585:p.Asp73Tyr					EPS8L2_uc010qwj.1_Missense_Mutation_p.D73Y|EPS8L2_uc001lqu.2_Missense_Mutation_p.D73Y|EPS8L2_uc010qwk.1_Missense_Mutation_p.D73Y|EPS8L2_uc001lqv.2_Missense_Mutation_p.D28Y|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	p.D73Y	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	464	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	73			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.217G>T	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142286	0.57044	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	3.81	3.81	0.43845	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.968;0.997;0.977	T	0.81357	-0.0969	10	0.87932	D	0	-35.4429	14.9903	0.71381	0.0:0.0:1.0:0.0	.	73;101;73	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	Y	73	ENSP00000435128:D73Y;ENSP00000320828:D73Y;ENSP00000435585:D73Y;ENSP00000432923:D73Y;ENSP00000433223:D73Y;ENSP00000432765:D73Y;ENSP00000436035:D73Y;ENSP00000436230:D73Y	ENSP00000320828:D73Y	D	+	1	0	EPS8L2	710113	1.000000	0.71417	0.082000	0.20525	0.218000	0.24690	9.078000	0.94023	2.125000	0.65367	0.511000	0.50034	GAC		0.612	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		18	44	1	0	6.94344e-10	0.006122	7.84841e-10	18	44				
MUC6	4588	broad.mit.edu	37	11	1017204	1017204	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:1017204G>C	ENST00000421673.2	-	31	5647	c.5597C>G	c.(5596-5598)tCt>tGt	p.S1866C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1866	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.572																																							uc001lsw.2		NA																	0				ovary(1)	1						c.(5596-5598)TCT>TGT		mucin 6, gastric							408.0	390.0	396.0					11																	1017204		2199	4286	6485	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017204G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5597C>G	11.37:g.1017204G>C	ENSP00000406861:p.Ser1866Cys						p.S1866C	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5648	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1866			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5597C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115144	0.37339	.	.	ENSG00000184956	ENST00000421673	T	0.38722	1.12	2.91	1.98	0.26296	.	.	.	.	.	T	0.57770	0.2076	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.41787	-0.9489	9	0.54805	T	0.06	.	8.1502	0.31137	0.1345:0.0:0.8655:0.0	.	1866	Q6W4X9	MUC6_HUMAN	C	1866	ENSP00000406861:S1866C	ENSP00000406861:S1866C	S	-	2	0	MUC6	1007204	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	1.386000	0.34419	0.521000	0.28445	0.313000	0.20887	TCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	544	0	0	0	0.010729	0	14	544				
MMP26	56547	broad.mit.edu	37	11	4825658	4825658	+	Intron	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4825658G>A	ENST00000380390.1	+	1	72				OR52R1_ENST00000356069.2_5'Flank|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Silent_p.L64L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACTCTCTGCAGATGATAACAA	0.408																																							uc010qym.1		NA																	0				skin(1)	1						c.(190-192)CTG>TTG		olfactory receptor, family 52, subfamily R,							100.0	96.0	97.0					11																	4825658		2201	4298	6499	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825658G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37087G>A	11.37:g.4825658G>A							p.L64L	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	190	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Error:Variant_position_missing_in_Q8NGF1_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.190C>T	CCDS7752.1																																																																																				0.408	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		36	87	0	0	0	0.00623	0	36	87				
OR51G2	81282	broad.mit.edu	37	11	4936269	4936269	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4936269C>A	ENST00000322013.3	-	1	653	c.625G>T	c.(625-627)Gtc>Ttc	p.V209F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTAGAGACGATGACAAAC	0.512																																							uc001lzr.1		NA																	0				skin(2)	2						c.(625-627)GTC>TTC		olfactory receptor, family 51, subfamily G,							136.0	109.0	118.0					11																	4936269		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936269C>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.625G>T	11.37:g.4936269C>A	ENSP00000322593:p.Val209Phe						p.V209F	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	625	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	209			Helical; Name=5; (Potential).		Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.625G>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049087	0.19827	.	.	ENSG00000176893	ENST00000322013	T	0.39592	1.07	5.28	-2.68	0.06041	GPCR, rhodopsin-like superfamily (1);	0.675461	0.12926	N	0.427792	T	0.28995	0.0720	N	0.17764	0.52	0.09310	N	1	D	0.54772	0.968	P	0.52217	0.693	T	0.14896	-1.0456	10	0.41790	T	0.15	.	2.661	0.05027	0.1026:0.4437:0.2004:0.2533	.	209	Q8NGK0	O51G2_HUMAN	F	209	ENSP00000322593:V209F	ENSP00000322593:V209F	V	-	1	0	OR51G2	4892845	0.000000	0.05858	0.090000	0.20809	0.152000	0.21847	-2.731000	0.00805	-0.239000	0.09710	-1.662000	0.00750	GTC		0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		25	40	1	0	5.35047e-06	0.00333	5.68089e-06	25	40				
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4944910G>T	ENST00000321961.2	-	1	727	c.660C>A	c.(658-660)taC>taA	p.Y220*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547																																							uc010qyr.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(658-660)TAC>TAA		olfactory receptor, family 51, subfamily G,							115.0	95.0	102.0					11																	4944910		2201	4298	6499	SO:0001587	stop_gained	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944910G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.660C>A	11.37:g.4944910G>T	ENSP00000322546:p.Tyr220*						p.Y220*	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	660	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	220			Cytoplasmic (Potential).		B9EGW8|Q6IFH6	Nonsense_Mutation	SNP	ENST00000321961.2	37	c.660C>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361474	0.24684	.	.	ENSG00000176879	ENST00000321961	.	.	.	4.28	0.495	0.16890	.	0.000000	0.35739	U	0.003015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0499	0.36369	0.7327:0.0:0.2673:0.0	.	.	.	.	X	220	.	ENSP00000322546:Y220X	Y	-	3	2	OR51G1	4901486	0.000000	0.05858	0.431000	0.26735	0.015000	0.08874	-0.172000	0.09868	-0.076000	0.12775	-1.280000	0.01385	TAC		0.547	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		53	71	1	0	4.86159e-25	0.00361	6.52652e-25	53	71				
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4944978G>T	ENST00000321961.2	-	1	659	c.592C>A	c.(592-594)Cac>Aac	p.H198N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532																																							uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(592-594)CAC>AAC		olfactory receptor, family 51, subfamily G,							99.0	88.0	92.0					11																	4944978		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944978G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.592C>A	11.37:g.4944978G>T	ENSP00000322546:p.His198Asn						p.H198N	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	592	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	198			Extracellular (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.592C>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	2.627	-0.287290	0.05605	.	.	ENSG00000176879	ENST00000321961	T	0.00044	8.83	4.41	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.584637	0.14090	U	0.342068	T	0.00073	0.0002	N	0.00686	-1.255	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.07158	-1.0787	10	0.27785	T	0.31	.	13.7541	0.62926	0.0:0.408:0.592:0.0	.	198	Q8NGK1	O51G1_HUMAN	N	198	ENSP00000322546:H198N	ENSP00000322546:H198N	H	-	1	0	OR51G1	4901554	0.000000	0.05858	0.948000	0.38648	0.121000	0.20230	0.419000	0.21247	1.035000	0.39972	0.557000	0.71058	CAC		0.532	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		43	82	1	0	1.8453e-21	0.010771	2.39522e-21	43	82				
UBQLN3	50613	broad.mit.edu	37	11	5529609	5529609	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:5529609G>T	ENST00000311659.4	-	2	1327	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	394										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAGGCTGGCCTGACCCA	0.577																																					Ovarian(72;684 1260 12332 41642 52180)	Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(1180-1182)CAG>AAG		ubiquilin 3							114.0	123.0	120.0					11																	5529609		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529609G>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1180C>A	11.37:g.5529609G>T	ENSP00000347997:p.Gln394Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.Q394K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1266	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	394					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1180C>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	5.640	0.302734	0.10678	.	.	ENSG00000175520	ENST00000311659	T	0.35421	1.31	4.68	3.77	0.43336	.	0.402479	0.18794	N	0.130969	T	0.36276	0.0961	M	0.72479	2.2	0.09310	N	0.999999	B	0.16603	0.018	B	0.14023	0.01	T	0.29610	-1.0006	10	0.48119	T	0.1	-31.7226	9.1067	0.36703	0.1005:0.0:0.8995:0.0	.	394	Q9H347	UBQL3_HUMAN	K	394	ENSP00000347997:Q394K	ENSP00000347997:Q394K	Q	-	1	0	UBQLN3	5486185	0.639000	0.27234	0.590000	0.28732	0.499000	0.33736	2.160000	0.42348	1.324000	0.45282	-0.137000	0.14449	CAG		0.577	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		42	222	1	0	1.61863e-15	0.00361	1.97787e-15	42	222				
ARFIP2	23647	broad.mit.edu	37	11	6501223	6501223	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6501223C>G	ENST00000254584.2	-	3	258	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R	ARFIP2_ENST00000525235.1_Missense_Mutation_p.G59R|ARFIP2_ENST00000423813.2_Missense_Mutation_p.G21R|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Silent_p.L13L|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000530751.1_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.G59R	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	59					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCCATCACCAGAGCCCCCA	0.527																																					Melanoma(119;796 1674 9049 20480 24794)	Melanoma(119;796 1674 9049 20480 24794)	uc001mdk.2		NA																	0					0						c.(175-177)GGT>CGT		ADP-ribosylation factor interacting protein 2							188.0	181.0	184.0					11																	6501223		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6501223C>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.175G>C	11.37:g.6501223C>G	ENSP00000254584:p.Gly59Arg					ARFIP2_uc001mdl.2_Missense_Mutation_p.G59R|ARFIP2_uc010ral.1_Missense_Mutation_p.G21R|ARFIP2_uc010ram.1_Silent_p.L4L|ARFIP2_uc010ran.1_Missense_Mutation_p.G59R|ARFIP2_uc001mdm.2_RNA|ARFIP2_uc009yfe.1_Missense_Mutation_p.G59R|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	p.G59R	NM_012402	NP_036534	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	312	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	59					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.175G>C	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438820	0.43326	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.78126	-1.02;-1.02;-1.15	5.12	5.12	0.69794	.	0.102417	0.64402	D	0.000003	T	0.66528	0.2798	.	.	.	0.80722	D	1	P;P;B	0.39391	0.611;0.671;0.361	B;B;B	0.34301	0.179;0.143;0.143	T	0.65340	-0.6192	9	0.18276	T	0.48	.	17.125	0.86711	0.0:1.0:0.0:0.0	.	59;59;59	B4DUZ3;E9PPY7;P53365	.;.;ARFP2_HUMAN	R	59;59;21;59	ENSP00000254584:G59R;ENSP00000379998:G59R;ENSP00000398375:G21R	ENSP00000254584:G59R	G	-	1	0	ARFIP2	6457799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.026000	0.64103	2.373000	0.80994	0.563000	0.77884	GGT		0.527	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		46	270	0	0	0	0.00361	0	46	270				
DCHS1	8642	broad.mit.edu	37	11	6653736	6653736	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6653736G>T	ENST00000299441.3	-	6	3418	c.3007C>A	c.(3007-3009)Cct>Act	p.P1003T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1003	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTAGGTAGGGCTGTTGAAT	0.642																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3007-3009)CCT>ACT		dachsous 1 precursor							24.0	22.0	23.0					11																	6653736		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653736G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3007C>A	11.37:g.6653736G>T	ENSP00000299441:p.Pro1003Thr						p.P1003T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3417	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1003			Cadherin 10.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3007C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815553	0.16607	.	.	ENSG00000166341	ENST00000299441	T	0.69435	-0.4	4.84	3.91	0.45181	Cadherin (2);Cadherin-like (1);	0.141184	0.32901	N	0.005507	T	0.67961	0.2949	L	0.28556	0.865	0.34729	D	0.729578	D	0.76494	0.999	D	0.78314	0.991	T	0.68569	-0.5374	10	0.13470	T	0.59	.	11.6612	0.51347	0.0:0.0:0.8011:0.1989	.	1003	Q96JQ0	PCD16_HUMAN	T	1003	ENSP00000299441:P1003T	ENSP00000299441:P1003T	P	-	1	0	DCHS1	6610312	1.000000	0.71417	0.999000	0.59377	0.695000	0.40330	2.559000	0.45888	1.334000	0.45468	0.561000	0.74099	CCT		0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	10	1	0	0.00116845	0.001168	0.00119778	6	10				
DCHS1	8642	broad.mit.edu	37	11	6661762	6661762	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6661762G>T	ENST00000299441.3	-	2	1494	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	361	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAGTCATGGAGGGCTGAT	0.582																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1081-1083)TCC>TCA		dachsous 1 precursor							102.0	102.0	102.0					11																	6661762		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661762G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1083C>A	11.37:g.6661762G>T							p.S361S	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1493	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	361			Extracellular (Potential).|Cadherin 3.		O15098	Silent	SNP	ENST00000299441.3	37	c.1083C>A	CCDS7771.1																																																																																				0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		55	127	1	0	2.41709e-19	0.00361	3.05251e-19	55	127				
OR2AG1	144125	broad.mit.edu	37	11	6806516	6806516	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6806516C>A	ENST00000307401.4	+	1	269	c.248C>A	c.(247-249)gCg>gAg	p.A83E		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	83						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)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCCTTGCGGACTTTCTG	0.572																																							uc001mer.1		NA																	0				central_nervous_system(1)	1						c.(247-249)GCG>GAG		olfactory receptor, family 2, subfamily AG,							132.0	120.0	124.0					11																	6806516		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806516C>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.248C>A	11.37:g.6806516C>A	ENSP00000307447:p.Ala83Glu						p.A83E	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	248	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	83			Extracellular (Potential).		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.248C>A	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175768	0.06421	.	.	ENSG00000170803	ENST00000307401	T	0.00008	9.61	4.03	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	1.594120	0.03893	N	0.278995	T	0.00073	0.0002	L	0.33293	1	0.09310	N	1	P	0.39443	0.674	B	0.34301	0.179	T	0.27331	-1.0077	10	0.56958	D	0.05	.	7.1573	0.25645	0.0:0.1143:0.0:0.8857	.	83	Q9H205	O2AG1_HUMAN	E	83	ENSP00000307447:A83E	ENSP00000307447:A83E	A	+	2	0	OR2AG1	6763092	0.000000	0.05858	0.027000	0.17364	0.000000	0.00434	-0.351000	0.07711	0.727000	0.32360	-0.469000	0.05056	GCG		0.572	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		75	130	1	0	5.41795e-27	0.00361	7.44684e-27	75	130				
OR10A5	144124	broad.mit.edu	37	11	6867170	6867170	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6867170T>A	ENST00000299454.4	+	1	288	c.257T>A	c.(256-258)cTg>cAg	p.L86Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.L90Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	86					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGGGGACCCTGCTTGCCCAG	0.502																																					Pancreas(44;21 1072 25662 28041 45559)	Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(256-258)CTG>CAG		olfactory receptor, family 10, subfamily A,							91.0	93.0	93.0					11																	6867170		2201	4293	6494	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867170T>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.257T>A	11.37:g.6867170T>A	ENSP00000299454:p.Leu86Gln						p.L86Q	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	257	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	86			Extracellular (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.257T>A	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.885681	0.51908	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00411	7.53;7.53	3.42	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.147655	0.31472	N	0.007599	T	0.01092	0.0036	M	0.88241	2.94	0.30861	N	0.733472	D	0.89917	1.0	D	0.76071	0.987	T	0.05068	-1.0908	10	0.87932	D	0	.	5.4264	0.16427	0.0:0.1272:0.0:0.8728	.	86	Q9H207	O10A5_HUMAN	Q	86;90	ENSP00000299454:L86Q;ENSP00000369159:L90Q	ENSP00000299454:L86Q	L	+	2	0	OR10A5	6823746	0.706000	0.27856	0.988000	0.46212	0.994000	0.84299	4.759000	0.62227	1.765000	0.52091	0.482000	0.46254	CTG		0.502	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		78	135	0	0	0	0.00361	0	78	135				
NLRP10	338322	broad.mit.edu	37	11	7982771	7982771	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:7982771G>T	ENST00000328600.2	-	2	549	c.388C>A	c.(388-390)Ccc>Acc	p.P130T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	130					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGAGCTGGGCTTGGCCACC	0.562																																							uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(388-390)CCC>ACC		NLR family, pyrin domain containing 10							64.0	64.0	64.0					11																	7982771		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982771G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.388C>A	11.37:g.7982771G>T	ENSP00000327763:p.Pro130Thr						p.P130T	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	405	-			130					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.388C>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999270	0.19121	.	.	ENSG00000182261	ENST00000328600	T	0.79247	-1.25	4.85	-1.67	0.08238	.	1.025880	0.07799	N	0.956206	T	0.57257	0.2041	N	0.19112	0.55	0.09310	N	1	B	0.33135	0.399	B	0.32533	0.147	T	0.42766	-0.9432	10	0.15499	T	0.54	.	5.2395	0.15464	0.32:0.2694:0.4106:0.0	.	130	Q86W26	NAL10_HUMAN	T	130	ENSP00000327763:P130T	ENSP00000327763:P130T	P	-	1	0	NLRP10	7939347	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.669000	0.01958	-0.293000	0.08986	-0.797000	0.03246	CCC		0.562	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		47	91	1	0	1.23103e-26	0.013114	1.6779e-26	47	91				
MUC15	143662	broad.mit.edu	37	11	26586850	26586850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:26586850C>A	ENST00000455601.2	-	2	674	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	MUC15_ENST00000529533.1_Nonsense_Mutation_p.E213*|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Nonsense_Mutation_p.E213*|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Nonsense_Mutation_p.E213*|MUC15_ENST00000281268.8_Nonsense_Mutation_p.E213*	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	186					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCACTTGGTTCCACTATCAAG	0.418																																							uc001mqx.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(556-558)GAA>TAA		mucin 15 isoform b							121.0	117.0	118.0					11																	26586850		2203	4300	6503	SO:0001587	stop_gained	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586850C>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.556G>T	11.37:g.26586850C>A	ENSP00000397339:p.Glu186*					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Nonsense_Mutation_p.E213*|MUC15_uc001mqy.2_Nonsense_Mutation_p.E213*	p.E186*	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	822	-			186			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Nonsense_Mutation	SNP	ENST00000455601.2	37	c.556G>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949335	0.73787	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	.	.	.	4.34	2.44	0.29823	.	0.698156	0.13074	N	0.415858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.8931	7.2382	0.26082	0.0:0.785:0.0:0.215	.	.	.	.	X	186;213;213;213;213	.	ENSP00000281268:E213X	E	-	1	0	MUC15	26543426	0.001000	0.12720	0.007000	0.13788	0.055000	0.15305	-0.122000	0.10627	0.537000	0.28751	0.650000	0.86243	GAA		0.418	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		42	85	1	0	4.32679e-17	0.006999	5.38787e-17	42	85				
CCDC34	91057	broad.mit.edu	37	11	27378962	27378962	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:27378962C>T	ENST00000328697.6	-	2	1159	c.486G>A	c.(484-486)ctG>ctA	p.L162L	CCDC34_ENST00000317945.6_Silent_p.L162L	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	162										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CTAGAGCTTTCAGTTGCAGCC	0.398																																							uc001mrh.1		NA																	0					0						c.(484-486)CTG>CTA		coiled-coil domain containing 34 isoform 1							134.0	132.0	133.0					11																	27378962		2202	4299	6501	SO:0001819	synonymous_variant	91057							g.chr11:27378962C>T	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.486G>A	11.37:g.27378962C>T						CCDC34_uc001mri.1_Silent_p.L162L	p.L162L	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			2	540	-			162			Potential.		B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Silent	SNP	ENST00000328697.6	37	c.486G>A	CCDS31448.1																																																																																				0.398	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		38	82	0	0	0	0.00874	0	38	82				
KCNA4	3739	broad.mit.edu	37	11	30033093	30033093	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:30033093C>G	ENST00000328224.6	-	2	2366	c.1133G>C	c.(1132-1134)tGt>tCt	p.C378S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	378					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCATACAATACAGACTGTTTC	0.458																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1132-1134)TGT>TCT		potassium voltage-gated channel, shaker-related							84.0	79.0	81.0					11																	30033093		2022	4209	6231	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033093C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1133G>C	11.37:g.30033093C>G	ENSP00000328511:p.Cys378Ser						p.C378S	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2285	-			378			Helical; Name=Segment S2; (Potential).			Missense_Mutation	SNP	ENST00000328224.6	37	c.1133G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114391	0.56505	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.99864	1.1087	10	0.87932	D	0	.	18.9734	0.92724	0.0:1.0:0.0:0.0	.	378	P22459	KCNA4_HUMAN	S	378	ENSP00000328511:C378S	ENSP00000328511:C378S	C	-	2	0	KCNA4	29989669	1.000000	0.71417	0.779000	0.31741	0.312000	0.27988	7.818000	0.86416	2.485000	0.83878	0.563000	0.77884	TGT		0.458	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		43	72	0	0	0	0.009718	0	43	72				
KIAA1549L	25758	broad.mit.edu	37	11	33581407	33581407	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:33581407C>T	ENST00000321505.4	+	6	3257	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1032V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1032V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1026						integral component of membrane (GO:0016021)											CAGCTCTCGGCTGAGCTGGTG	0.592																																							uc001mup.3		NA																	0				ovary(2)	2						c.(3094-3096)GCT>GTT		hypothetical protein LOC25758							116.0	123.0	121.0					11																	33581407		2126	4220	6346	SO:0001583	missense	25758					integral to membrane		g.chr11:33581407C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3077C>T	11.37:g.33581407C>T	ENSP00000315295:p.Ala1026Val					C11orf41_uc001mun.1_Missense_Mutation_p.A1032V	p.A1032V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			6	3219	+			1026					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3095C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148895	0.78001	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	5.45	0.79879	.	0.047371	0.85682	D	0.000000	T	0.67078	0.2855	L	0.41710	1.295	0.38851	D	0.956275	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.63620	-0.6596	9	0.27785	T	0.31	-16.2548	15.1597	0.72775	0.0:0.8593:0.1407:0.0	.	1032;1032	E9PAT2;Q6ZVL6-2	.;.	V	1026;1032;1032;865	.	ENSP00000265654:A1032V	A	+	2	0	C11orf41	33537983	1.000000	0.71417	0.288000	0.24862	0.970000	0.65996	5.642000	0.67888	2.715000	0.92844	0.573000	0.79308	GCT		0.592	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		73	205	0	0	0	0.00361	0	73	205				
FJX1	24147	broad.mit.edu	37	11	35640940	35640940	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:35640940G>T	ENST00000317811.4	+	1	1206	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	252					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCACGGACGTGGTGGTGCCCG	0.746																																					Melanoma(161;10 2587 27165 47356)	Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NA																	0					0						c.(754-756)GTG>GTT		four jointed box 1 precursor							8.0	9.0	8.0					11																	35640940		2039	4150	6189	SO:0001819	synonymous_variant	24147					extracellular space		g.chr11:35640940G>T	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.756G>T	11.37:g.35640940G>T							p.V252V	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	1206	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	252					B2RCA9|Q9UGK6	Silent	SNP	ENST00000317811.4	37	c.756G>T	CCDS44570.1																																																																																				0.746	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		10	19	1	0	1.33987e-11	0.008291	1.55026e-11	10	19				
ACCS	84680	broad.mit.edu	37	11	44104832	44104832	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:44104832G>T	ENST00000263776.8	+	13	1659	c.1225G>T	c.(1225-1227)Ggc>Tgc	p.G409C		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	409					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCGTGGGGCTGGCTTCTTCAT	0.582																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1225-1227)GGC>TGC		1-aminocyclopropane-1-carboxylate synthase							96.0	90.0	92.0					11																	44104832		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44104832G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1225G>T	11.37:g.44104832G>T	ENSP00000263776:p.Gly409Cys					EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.G409C	p.G409C	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			13	1369	+			409					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.1225G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529617	0.85706	.	.	ENSG00000110455	ENST00000263776	T	0.30714	1.52	5.7	5.7	0.88788	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.110965	0.64402	D	0.000011	T	0.71459	0.3342	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81516	-0.0897	10	0.87932	D	0	-22.5311	19.4446	0.94841	0.0:0.0:1.0:0.0	.	409	Q96QU6	1A1L1_HUMAN	C	409	ENSP00000263776:G409C	ENSP00000263776:G409C	G	+	1	0	ACCS	44061408	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	5.055000	0.64282	2.689000	0.91719	0.511000	0.50034	GGC		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		32	89	1	0	1.06801e-11	0.009535	1.23718e-11	32	89				
PEX16	9409	broad.mit.edu	37	11	45937052	45937052	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:45937052G>A	ENST00000378750.5	-	5	670	c.427C>T	c.(427-429)Cca>Tca	p.P143S	PEX16_ENST00000241041.3_Missense_Mutation_p.P143S|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000532681.1_Missense_Mutation_p.P48S			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	143					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCCAGTGGAACGATAGGG	0.602																																							uc001nbu.2		NA																	0				ovary(2)|skin(1)	3						c.(427-429)CCA>TCA		peroxisomal biogenesis factor 16 isoform 1							76.0	79.0	78.0					11																	45937052		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45937052G>A	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.427C>T	11.37:g.45937052G>A	ENSP00000368024:p.Pro143Ser					PEX16_uc001nbt.2_Missense_Mutation_p.P143S	p.P143S	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	5	739	-			143			Cytoplasmic (Potential).		Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.427C>T	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703283	0.88924	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000525192	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.15	5.15	0.70609	.	0.131711	0.52532	D	0.000076	T	0.40619	0.1124	M	0.73962	2.25	0.80722	D	1	P;D	0.57899	0.916;0.981	P;P	0.54889	0.686;0.763	T	0.17715	-1.0360	10	0.30854	T	0.27	-23.2074	18.2166	0.89887	0.0:0.0:1.0:0.0	.	143;143	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	S	143;143;48;48	ENSP00000241041:P143S;ENSP00000368024:P143S;ENSP00000434654:P48S;ENSP00000431309:P48S	ENSP00000241041:P143S	P	-	1	0	PEX16	45893628	1.000000	0.71417	0.900000	0.35374	0.993000	0.82548	8.865000	0.92300	2.392000	0.81423	0.561000	0.74099	CCA		0.602	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		44	72	0	0	0	0.013114	0	44	72				
RAPSN	5913	broad.mit.edu	37	11	47463472	47463472	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:47463472T>A	ENST00000298854.2	-	4	905	c.692A>T	c.(691-693)gAg>gTg	p.E231V	RAPSN_ENST00000524487.1_Splice_Site_p.E178V|RAPSN_ENST00000528356.1_5'Flank|RAPSN_ENST00000529341.1_Splice_Site_p.E231V|RNU6-1302P_ENST00000516518.1_RNA|RAPSN_ENST00000352508.3_Splice_Site_p.E231V	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	231					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTTCATAGACTCCTGCGAGGG	0.662																																							uc001nfi.1		NA																	0				ovary(1)	1						c.(691-693)GAG>GTG		43 kD receptor-associated protein of the synapse							14.0	14.0	14.0					11																	47463472		2196	4279	6475	SO:0001630	splice_region_variant	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47463472T>A		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.691-1A>T	11.37:g.47463472T>A						RAPSN_uc001nfj.1_Missense_Mutation_p.E231V|RAPSN_uc009yls.1_Missense_Mutation_p.E231V	p.E231V	NM_005055	NP_005046	Q13702	RAPSN_HUMAN			4	906	-			231			TPR 5.		Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.692A>T	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429159	0.83776	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	D;T;T;T	0.94828	-3.53;1.16;1.04;1.16	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.73962	2.25	0.80722	D	1	P;P;P	0.51933	0.949;0.767;0.94	P;P;P	0.60117	0.688;0.661;0.869	D	0.97022	0.9744	10	0.87932	D	0	-40.0146	15.167	0.72837	0.0:0.0:0.0:1.0	.	231;231;231	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	V	231;231;178;231	ENSP00000298854:E231V;ENSP00000298853:E231V;ENSP00000435551:E178V;ENSP00000431732:E231V	ENSP00000298854:E231V	E	-	2	0	RAPSN	47420048	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.437000	0.80417	2.043000	0.60533	0.460000	0.39030	GAG		0.662	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1		Missense_Mutation	7	12	0	0	0	0.001984	0	7	12				
NUP160	23279	broad.mit.edu	37	11	47857258	47857258	+	Missense_Mutation	SNP	G	G	C	rs368348720		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:47857258G>C	ENST00000378460.2	-	7	1092	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.S235C|NUP160_ENST00000530326.1_Missense_Mutation_p.S235C	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	349					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATGGTGGGGGAATAAGCAAG	0.458																																							uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1045-1047)TCC>TGC		nucleoporin 160kDa							151.0	129.0	137.0					11																	47857258		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47857258G>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1046C>G	11.37:g.47857258G>C	ENSP00000367721:p.Ser349Cys					NUP160_uc009ylw.2_RNA	p.S349C	NM_015231	NP_056046	Q12769	NU160_HUMAN			7	1131	-			349					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.1046C>G	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872691	0.91587	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071	T;T;T	0.47869	0.83;0.83;0.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70784	-0.4778	10	0.54805	T	0.06	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	349	Q12769	NU160_HUMAN	C	349;99;235;235	ENSP00000367721:S349C;ENSP00000433590:S235C;ENSP00000432367:S235C	ENSP00000367721:S349C	S	-	2	0	NUP160	47813834	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.661000	0.91125	2.545000	0.85829	0.591000	0.81541	TCC		0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		45	79	0	0	0	0.00361	0	45	79				
OR4C3	256144	broad.mit.edu	37	11	48347244	48347244	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:48347244G>T	ENST00000319856.4	+	1	773	c.752G>T	c.(751-753)aGg>aTg	p.R251M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TACTCCTTGAGGTCCCACAGT	0.488																																							uc010rhv.1		NA																	0				skin(1)	1						c.(751-753)AGG>ATG		olfactory receptor, family 4, subfamily C,							257.0	190.0	213.0					11																	48347244		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347244G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.752G>T	11.37:g.48347244G>T	ENSP00000321419:p.Arg251Met						p.R251M	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	752	+			224			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.752G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371518	0.42003	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00265	8.39	5.88	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.00552	0.0018	M	0.89715	3.055	0.19775	N	0.999952	D	0.71674	0.998	D	0.72075	0.976	T	0.31223	-0.9951	10	0.87932	D	0	.	7.4165	0.27047	0.3916:0.0:0.6084:0.0	.	224	Q8NH37	OR4C3_HUMAN	M	251;114	ENSP00000321419:R251M	ENSP00000321419:R251M	R	+	2	0	OR4C3	48303820	0.000000	0.05858	0.996000	0.52242	0.520000	0.34377	0.465000	0.22004	0.865000	0.35603	0.549000	0.68633	AGG		0.488	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		34	106	1	0	3.67414e-24	0.012213	4.90553e-24	34	106				
OR5D14	219436	broad.mit.edu	37	11	55563103	55563104	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55563103_55563104GC>TT	ENST00000335605.1	+	1	72_73	c.72_73GC>TT	c.(70-75)aaGCtt>aaTTtt	p.24_25KL>NF		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTACCCAAAGCTTCAGATTCC	0.391																																							uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(70-75)AAGCTT>AATTTT		olfactory receptor, family 5, subfamily D,																																				SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563103_55563104GC>TT	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	Exception_encountered	11.37:g.55563103_55563104delinsTT	ENSP00000334456:p.K24_L25delinsNF						p.24_25KL>NF	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	72_73	+		all_epithelial(135;0.196)	24_25			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	DNP	ENST00000335605.1	37	c.72_73GC>TT	CCDS31508.1																																																																																				0.391	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		56	102	0	0	0	0.004672	0	56	102				
OR5L1	219437	broad.mit.edu	37	11	55579401	55579401	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55579401G>T	ENST00000333973.2	+	1	548	c.459G>T	c.(457-459)acG>acT	p.T153T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						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)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGTGGGACGGTGTGTTCTC	0.458																																							uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(457-459)ACG>ACT		olfactory receptor, family 5, subfamily L,							217.0	182.0	194.0					11																	55579401		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579401G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.459G>T	11.37:g.55579401G>T							p.T153T	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	459	+		all_epithelial(135;0.208)	153			Helical; Name=4; (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.459G>T	CCDS31509.1																																																																																				0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		31	246	1	0	8.88839e-20	0.010818	1.12978e-19	31	246				
OR5D18	219438	broad.mit.edu	37	11	55587802	55587802	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55587802A>T	ENST00000333976.4	+	1	717	c.697A>T	c.(697-699)Agt>Tgt	p.S233C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCGTTCAGTCAGTGGGCGCCG	0.493																																							uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(697-699)AGT>TGT		olfactory receptor, family 5, subfamily D,							145.0	122.0	130.0					11																	55587802		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587802A>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.697A>T	11.37:g.55587802A>T	ENSP00000335025:p.Ser233Cys						p.S233C	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	697	+		all_epithelial(135;0.208)	233			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.697A>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	5.987	0.365995	0.11352	.	.	ENSG00000186119	ENST00000333976	T	0.00179	8.61	4.9	-0.139	0.13460	GPCR, rhodopsin-like superfamily (1);	0.154043	0.30989	N	0.008480	T	0.00210	0.0006	M	0.78637	2.42	0.09310	N	1	B	0.19073	0.033	B	0.30316	0.114	T	0.45731	-0.9241	10	0.87932	D	0	-6.5586	4.2175	0.10542	0.5148:0.0:0.3344:0.1509	.	233	Q8NGL1	OR5DI_HUMAN	C	233	ENSP00000335025:S233C	ENSP00000335025:S233C	S	+	1	0	OR5D18	55344378	0.000000	0.05858	0.032000	0.17829	0.109000	0.19521	-1.646000	0.01998	0.020000	0.15106	-0.508000	0.04489	AGT		0.493	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		70	78	0	0	0	0.00361	0	70	78				
OR5L2	26338	broad.mit.edu	37	11	55595399	55595399	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55595399C>A	ENST00000378397.1	+	1	705	c.705C>A	c.(703-705)caC>caA	p.H235Q		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGAGCAGGCACAAAGCTTTCT	0.493										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(703-705)CAC>CAA		olfactory receptor, family 5, subfamily L,							178.0	151.0	160.0					11																	55595399		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595399C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.705C>A	11.37:g.55595399C>A	ENSP00000367650:p.His235Gln	HNSCC(27;0.073)					p.H235Q	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	705	+		all_epithelial(135;0.208)	235			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.705C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.173	-1.069455	0.01918	.	.	ENSG00000205030	ENST00000378397	T	0.00198	8.57	5.24	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.944591	0.08848	N	0.884905	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	0.999998	B	0.31705	0.336	B	0.29440	0.102	T	0.00763	-1.1576	10	0.08381	T	0.77	0.5347	6.2766	0.20983	0.1316:0.6626:0.1284:0.0774	.	235	Q8NGL0	OR5L2_HUMAN	Q	235	ENSP00000367650:H235Q	ENSP00000367650:H235Q	H	+	3	2	OR5L2	55351975	0.000000	0.05858	0.856000	0.33681	0.019000	0.09904	-0.802000	0.04545	1.313000	0.45069	-0.252000	0.11476	CAC		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		68	99	1	0	2.19297e-23	0.00361	2.91207e-23	68	99				
TRIM51	84767	broad.mit.edu	37	11	55658693	55658693	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55658693C>A	ENST00000449290.2	+	7	1036	c.944C>A	c.(943-945)cCt>cAt	p.P315H	TRIM51_ENST00000244891.3_Missense_Mutation_p.P172H	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGATGTGACCCTCAAGATGAT	0.408																																							uc010rip.1		NA																	0					0						c.(943-945)CCT>CAT		SPRY domain containing 5							95.0	102.0	100.0					11																	55658693		2065	3947	6012	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658693C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.944C>A	11.37:g.55658693C>A	ENSP00000395086:p.Pro315His					SPRYD5_uc010riq.1_Missense_Mutation_p.P172H	p.P315H	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1036	+		all_epithelial(135;0.226)	315			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.944C>A		.	.	.	.	.	.	.	.	.	.	.	1.436	-0.568932	0.03910	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.02606	4.23;4.23	1.17	-2.35	0.06684	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.21967	N	0.99945	B	0.06786	0.001	B	0.06405	0.002	T	0.48670	-0.9015	9	0.09843	T	0.71	.	1.41	0.02289	0.3475:0.3341:0.0:0.3184	.	315	Q9BSJ1	SPRY5_HUMAN	H	315;172	ENSP00000395086:P315H;ENSP00000244891:P172H	ENSP00000244891:P172H	P	+	2	0	SPRYD5	55415269	0.000000	0.05858	0.132000	0.22025	0.334000	0.28698	-0.076000	0.11412	-0.673000	0.05259	0.162000	0.16502	CCT		0.408	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		47	144	1	0	1.81118e-26	0.00361	2.4618e-26	47	144				
OR5I1	10798	broad.mit.edu	37	11	55703105	55703105	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55703105G>T	ENST00000301532.3	-	1	771	c.772C>A	c.(772-774)Ctc>Atc	p.L258I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	258					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAAATAAAGAGGAGAGTCCCT	0.443																																							uc010ris.1		NA																	0				ovary(1)	1						c.(772-774)CTC>ATC		olfactory receptor, family 5, subfamily I,							76.0	75.0	75.0					11																	55703105		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703105G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.772C>A	11.37:g.55703105G>T	ENSP00000301532:p.Leu258Ile						p.L258I	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	772	-			258			Helical; Name=6; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.772C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419089	0.25552	.	.	ENSG00000167825	ENST00000301532	T	0.38887	1.11	5.16	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000807	T	0.36082	0.0954	N	0.13140	0.3	0.09310	N	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.25187	-1.0139	10	0.08179	T	0.78	.	5.9398	0.19186	0.0921:0.0:0.6142:0.2936	.	258	Q13606	OR5I1_HUMAN	I	258	ENSP00000301532:L258I	ENSP00000301532:L258I	L	-	1	0	OR5I1	55459681	0.000000	0.05858	0.475000	0.27278	0.316000	0.28119	0.116000	0.15561	1.298000	0.44778	0.643000	0.83706	CTC		0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		10	36	1	0	0.00010058	0.001368	0.000104748	10	36				
OR8H2	390151	broad.mit.edu	37	11	55873187	55873187	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55873187T>C	ENST00000313503.1	+	1	669	c.669T>C	c.(667-669)ttT>ttC	p.F223F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	223						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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCATTCTCTTTACCATCCTGA	0.393										HNSCC(53;0.14)																													uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(667-669)TTT>TTC		olfactory receptor, family 8, subfamily H,							146.0	137.0	140.0					11																	55873187		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873187T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.669T>C	11.37:g.55873187T>C		HNSCC(53;0.14)					p.F223F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	669	+	Esophageal squamous(21;0.00693)		223			Cytoplasmic (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.669T>C	CCDS31518.1																																																																																				0.393	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		8	175	0	0	0	0.00308	0	8	175				
TNKS1BP1	85456	broad.mit.edu	37	11	57088056	57088056	+	Missense_Mutation	SNP	C	C	A	rs375631541		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:57088056C>A	ENST00000532437.1	-	2	536	c.225G>T	c.(223-225)ttG>ttT	p.L75F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L75F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	75	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGCAGAAGGCAACTCAGCCA	0.677																																							uc001njr.2		NA																	0				skin(1)	1						c.(223-225)TTG>TTT		tankyrase 1-binding protein 1							20.0	23.0	22.0					11																	57088056		2200	4296	6496	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088056C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.225G>T	11.37:g.57088056C>A	ENSP00000437271:p.Leu75Phe					TNKS1BP1_uc001njs.2_Missense_Mutation_p.L75F|TNKS1BP1_uc009ymd.1_5'UTR	p.L75F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			2	537	-		all_epithelial(135;0.21)	75			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.225G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604082	0.66445	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.51071	0.72;0.72	4.58	1.57	0.23409	.	0.000000	0.30658	N	0.009142	T	0.47985	0.1475	N	0.24115	0.695	0.27813	N	0.942054	D	0.76494	0.999	D	0.76575	0.988	T	0.35276	-0.9795	10	0.35671	T	0.21	-9.6039	8.7648	0.34696	0.0:0.7465:0.0:0.2535	.	75	Q9C0C2	TB182_HUMAN	F	75	ENSP00000350990:L75F;ENSP00000437271:L75F	ENSP00000350990:L75F	L	-	3	2	TNKS1BP1	56844632	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.339000	0.19875	0.522000	0.28464	0.563000	0.77884	TTG		0.677	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		32	40	1	0	4.74835e-14	0.010818	5.63364e-14	32	40				
SMTNL1	219537	broad.mit.edu	37	11	57309022	57309023	+	5'Flank	DNP	CC	CC	AA			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:57309022_57309023CC>AA	ENST00000399154.2	+	0	0				SMTNL1_ENST00000457912.1_Missense_Mutation_p.A15E|SMTNL1_ENST00000527972.1_5'Flank			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TCAGCAGAGGCCAGGGAGAGTA	0.51																																							uc009ymh.1		NA																	0				ovary(1)	1						c.(43-45)GCC>GAA		smoothelin-like 1																																				SO:0001631	upstream_gene_variant	219537							g.chr11:57309022_57309023CC>AA	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		Exception_encountered	11.37:g.57309022_57309023delinsAA	Exception_encountered						p.A15E	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			1	44_45	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	DNP	ENST00000399154.2	37	c.44_45CC>AA																																																																																					0.510	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		53	138	0	0	0	0.004672	0	53	138				
OR4D10	390197	broad.mit.edu	37	11	59245074	59245074	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:59245074C>A	ENST00000530162.1	+	1	229	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	58						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(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTCACACGCCCATGTATTT	0.433																																							uc001nnz.1		NA																	0				ovary(2)|skin(1)	3						c.(172-174)CCC>ACC		olfactory receptor, family 4, subfamily D,							192.0	198.0	196.0					11																	59245074		2136	4261	6397	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245074C>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.172C>A	11.37:g.59245074C>A	ENSP00000436424:p.Pro58Thr						p.P58T	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	172	+			58			Helical; Name=2; (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.172C>A	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992259	0.18966	.	.	ENSG00000254466	ENST00000530162	T	0.02032	4.49	4.22	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17280	0.0415	H	0.94925	3.6	0.37594	D	0.920299	D	0.69078	0.997	D	0.74348	0.983	T	0.21586	-1.0241	9	0.66056	D	0.02	.	12.7983	0.57571	0.0:0.8335:0.1665:0.0	.	58	Q8NGI6	OR4DA_HUMAN	T	58	ENSP00000436424:P58T	ENSP00000436424:P58T	P	+	1	0	OR4D10	59001650	0.998000	0.40836	0.873000	0.34254	0.032000	0.12392	3.854000	0.55949	0.824000	0.34613	0.655000	0.94253	CCC		0.433	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		116	247	1	0	4.94232e-47	0.00361	7.41726e-47	116	247				
OR4D11	219986	broad.mit.edu	37	11	59271114	59271114	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:59271114C>G	ENST00000313253.1	+	1	66	c.66C>G	c.(64-66)gaC>gaG	p.D22E		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AATCCCAAGACCAGAGTTTGG	0.413																																							uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(64-66)GAC>GAG		olfactory receptor, family 4, subfamily D,							75.0	70.0	71.0					11																	59271114		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271114C>G	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.66C>G	11.37:g.59271114C>G	ENSP00000320077:p.Asp22Glu						p.D22E	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	66	+			22			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.66C>G	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.079108	0.00375	.	.	ENSG00000176200	ENST00000313253	T	0.00428	7.44	5.45	-2.02	0.07388	.	0.726087	0.12293	N	0.481850	T	0.00073	0.0002	N	0.00315	-1.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42582	-0.9443	10	0.02654	T	1	-5.4709	1.4255	0.02322	0.3327:0.2087:0.3027:0.1559	.	22	Q8NGI4	OR4DB_HUMAN	E	22	ENSP00000320077:D22E	ENSP00000320077:D22E	D	+	3	2	OR4D11	59027690	0.000000	0.05858	0.948000	0.38648	0.185000	0.23345	-2.563000	0.00919	0.010000	0.14839	-0.311000	0.09066	GAC		0.413	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		43	113	0	0	0	0.006999	0	43	113				
INCENP	3619	broad.mit.edu	37	11	61897893	61897893	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:61897893G>A	ENST00000394818.3	+	4	1096	c.894G>A	c.(892-894)acG>acA	p.T298T	INCENP_ENST00000278849.4_Silent_p.T298T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	298					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCTCGCACGGACTCTCAAT	0.632																																							uc001nsw.1		NA																	0				lung(1)	1						c.(892-894)ACG>ACA		inner centromere protein antigens 135/155kDa							68.0	71.0	70.0					11																	61897893		2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61897893G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.894G>A	11.37:g.61897893G>A						INCENP_uc009ynv.2_Silent_p.T298T|INCENP_uc009ynw.1_Silent_p.T298T|INCENP_uc001nsx.1_Silent_p.T298T	p.T298T	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			4	1096	+			298					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.894G>A	CCDS44624.1																																																																																				0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		119	123	0	0	0	0.00361	0	119	123				
SLC22A12	116085	broad.mit.edu	37	11	64359265	64359265	+	Silent	SNP	G	G	T	rs571307205		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:64359265G>T	ENST00000377574.1	+	1	984	c.237G>T	c.(235-237)ccG>ccT	p.P79P	SLC22A12_ENST00000377572.1_Silent_p.P79P|SLC22A12_ENST00000336464.7_Silent_p.P79P|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.P79P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	79					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCATCCCGCCGGGCCCCAACC	0.687																																							uc001oam.1		NA																	0				ovary(1)	1						c.(235-237)CCG>CCT		urate anion exchanger 1 isoform a							30.0	33.0	32.0					11																	64359265		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359265G>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.237G>T	11.37:g.64359265G>T						SLC22A12_uc009ypr.1_Silent_p.P79P|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.P79P|SLC22A12_uc001oan.1_Silent_p.P79P|SLC22A12_uc009ypt.2_5'Flank	p.P79P	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	984	+			79					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.237G>T	CCDS8075.1																																																																																				0.687	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		11	79	1	0	5.16669e-11	0.010729	5.92205e-11	11	79				
TM7SF2	7108	broad.mit.edu	37	11	64882807	64882807	+	Missense_Mutation	SNP	G	G	T	rs369865834		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:64882807G>T	ENST00000279263.7	+	8	1076	c.914G>T	c.(913-915)cGt>cTt	p.R305L	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.R189L|TM7SF2_ENST00000345348.5_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	305					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACATCTTCCGTGGGGCGAAT	0.557																																							uc001oct.2		NA																	0				ovary(1)	1						c.(913-915)CGT>CTT		transmembrane 7 superfamily member 2							141.0	143.0	142.0					11																	64882807		1932	4132	6064	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64882807G>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.914G>T	11.37:g.64882807G>T	ENSP00000279263:p.Arg305Leu					TM7SF2_uc010rny.1_Missense_Mutation_p.R189L|TM7SF2_uc001ocu.2_Intron|TM7SF2_uc001ocv.2_Missense_Mutation_p.R326L|uc009yqb.1_5'Flank	p.R305L	NM_003273	NP_003264	O76062	ERG24_HUMAN			8	1061	+			305					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.914G>T	CCDS41669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.011348|4.011348	0.75046|0.75046	.|.	.|.	ENSG00000149809|ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000531321;ENST00000527968|ENST00000528802	D;D;D;D;D;D;D|.	0.98164|.	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87728|0.87728	0.6250|0.6250	H|H	0.97077|0.97077	3.935|3.935	0.49051|0.49051	D|D	0.999743|0.999743	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	D|D	0.91595|0.91595	0.5290|0.5290	10|5	0.72032|.	D|.	0.01|.	-15.5502|-15.5502	15.8004|15.8004	0.78450|0.78450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;305|.	F5GYV3;O76062|.	.;ERG24_HUMAN|.	L|L	187;305;237;189;276;211;137|133	ENSP00000432171:R187L;ENSP00000279263:R305L;ENSP00000432187:R237L;ENSP00000441215:R189L;ENSP00000433325:R276L;ENSP00000431300:R211L;ENSP00000431685:R137L|.	ENSP00000279263:R305L|.	R|V	+|+	2|1	0|0	TM7SF2|TM7SF2	64639383|64639383	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.052000|3.052000	0.49893|0.49893	2.584000|2.584000	0.87258|0.87258	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.557	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		21	219	1	0	3.62473e-10	0.012319	4.12093e-10	21	219				
SPTBN2	6712	broad.mit.edu	37	11	66460452	66460452	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:66460452C>A	ENST00000533211.1	-	25	5305	c.4974G>T	c.(4972-4974)gaG>gaT	p.E1658D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1658D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1658D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1658					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCTGGGTGCTCGTGGTCAA	0.657																																							uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4972-4974)GAG>GAT		spectrin, beta, non-erythrocytic 2							86.0	96.0	93.0					11																	66460452		2200	4294	6494	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460452C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4974G>T	11.37:g.66460452C>A	ENSP00000432568:p.Glu1658Asp						p.E1658D	NM_006946	NP_008877	O15020	SPTN2_HUMAN			24	5046	-			1658			Spectrin 13.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4974G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	8.141	0.785145	0.16189	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.51574	0.7;0.7;0.7	4.7	-3.26	0.05064	.	0.592277	0.18569	N	0.137384	T	0.33731	0.0873	L	0.45051	1.395	0.27615	N	0.948545	B	0.02656	0.0	B	0.10450	0.005	T	0.17319	-1.0373	10	0.30078	T	0.28	.	10.7418	0.46158	0.0751:0.6707:0.1493:0.1049	.	1658	O15020	SPTN2_HUMAN	D	1658	ENSP00000432568:E1658D;ENSP00000311489:E1658D;ENSP00000433593:E1658D	ENSP00000311489:E1658D	E	-	3	2	SPTBN2	66217028	0.000000	0.05858	0.281000	0.24762	0.461000	0.32589	-0.877000	0.04197	-0.867000	0.04063	0.462000	0.41574	GAG		0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		542	206	1	0	4.45376e-183	0.00361	7.07404e-183	542	206				
MOGAT2	80168	broad.mit.edu	37	11	75438495	75438495	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:75438495G>C	ENST00000198801.5	+	3	356	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E14Q	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	96					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CAAGACTGCTGAGCTGGACCC	0.622																																							uc010rru.1		NA																	0				ovary(2)	2						c.(286-288)GAG>CAG		monoacylglycerol O-acyltransferase 2							50.0	50.0	50.0					11																	75438495		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438495G>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.286G>C	11.37:g.75438495G>C	ENSP00000198801:p.Glu96Gln					MOGAT2_uc001oww.1_Missense_Mutation_p.E96Q|MOGAT2_uc010rrv.1_Missense_Mutation_p.E14Q	p.E96Q	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			3	286	+	Ovarian(111;0.103)		96					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.286G>C	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402239	0.83230	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.17528	2.27;2.27	5.78	5.78	0.91487	.	0.202434	0.51477	D	0.000086	T	0.42517	0.1206	M	0.76727	2.345	0.80722	D	1	D;D	0.63046	0.979;0.992	P;D	0.63113	0.821;0.911	T	0.16778	-1.0391	10	0.56958	D	0.05	-31.6226	18.59	0.91206	0.0:0.0:1.0:0.0	.	96;96	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	Q	96;14	ENSP00000198801:E96Q;ENSP00000436283:E14Q	ENSP00000198801:E96Q	E	+	1	0	MOGAT2	75116143	1.000000	0.71417	0.963000	0.40424	0.949000	0.60115	4.508000	0.60441	2.706000	0.92434	0.655000	0.94253	GAG		0.622	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		6	69	0	0	0	0.004482	0	6	69				
GAB2	9846	broad.mit.edu	37	11	77934641	77934641	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:77934641G>T	ENST00000361507.4	-	6	1469	c.1384C>A	c.(1384-1386)Ctg>Atg	p.L462M	GAB2_ENST00000340149.2_Missense_Mutation_p.L424M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	462					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ATGGCCAACAGGGTGGAAGAA	0.522																																							uc001ozh.2		NA																	0				ovary(5)|lung(1)	6						c.(1384-1386)CTG>ATG		GRB2-associated binding protein 2 isoform a							253.0	250.0	251.0					11																	77934641		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934641G>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1384C>A	11.37:g.77934641G>T	ENSP00000354952:p.Leu462Met					GAB2_uc001ozg.2_Missense_Mutation_p.L424M	p.L462M	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		6	1384	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		462					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.1384C>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433166	0.43224	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.16073	2.37;2.59	4.97	3.04	0.35103	.	0.719775	0.12708	N	0.445809	T	0.17323	0.0416	L	0.50333	1.59	0.39094	D	0.961159	B	0.21452	0.056	B	0.24701	0.055	T	0.03524	-1.1028	10	0.33940	T	0.23	-6.4871	9.7511	0.40477	0.073:0.0:0.7779:0.1492	.	462	Q9UQC2	GAB2_HUMAN	M	424;462	ENSP00000343959:L424M;ENSP00000354952:L462M	ENSP00000343959:L424M	L	-	1	2	GAB2	77612289	1.000000	0.71417	0.971000	0.41717	0.980000	0.70556	2.160000	0.42348	0.634000	0.30469	0.561000	0.74099	CTG		0.522	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		97	307	1	0	5.25376e-55	0.00361	8.00729e-55	97	307				
RAB30	27314	broad.mit.edu	37	11	82705138	82705138	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:82705138G>A	ENST00000533486.1	-	4	404	c.120C>T	c.(118-120)gcC>gcT	p.A40A	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Silent_p.A40A|RAB30_ENST00000260056.2_Silent_p.A40A|RAB30_ENST00000532548.1_Silent_p.A40A|RAB30_ENST00000527633.1_Silent_p.A40A|RAB30_ENST00000525117.1_Intron	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	40					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCAATTGTGGCTCCTTGAC	0.378																																							uc001ozu.2		NA																	0					0						c.(118-120)GCC>GCT		RAB30, member RAS oncogene family							129.0	128.0	128.0					11																	82705138		2203	4300	6503	SO:0001819	synonymous_variant	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82705138G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.120C>T	11.37:g.82705138G>A						RAB30_uc009yve.2_Silent_p.A38A|RAB30_uc010rst.1_Silent_p.A38A|RAB30_uc001ozv.2_Silent_p.A38A|RAB30_uc009yvg.1_Intron	p.A40A	NM_014488	NP_055303	Q15771	RAB30_HUMAN			4	381	-			40			Effector region (By similarity).		Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	ENST00000533486.1	37	c.120C>T	CCDS8264.1																																																																																				0.378	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		49	86	0	0	0	0.00361	0	49	86				
TYR	7299	broad.mit.edu	37	11	88961012	88961012	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:88961012G>T	ENST00000263321.5	+	3	1560	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	353					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCACTTACTGGGATAGCGGAT	0.373																																							uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1057-1059)GGG>GTG		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						116.0	98.0	104.0					11																	88961012		2201	4298	6499	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88961012G>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1058G>T	11.37:g.88961012G>T	ENSP00000263321:p.Gly353Val						p.G353V	NM_000372	NP_000363	P14679	TYRO_HUMAN			3	1140	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	353			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1058G>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745736	0.69418	.	.	ENSG00000077498	ENST00000263321	D	0.98914	-5.23	5.12	4.14	0.48551	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.106321	0.64402	D	0.000005	D	0.99086	0.9686	H	0.96430	3.82	0.80722	D	1	P	0.46859	0.885	P	0.51324	0.666	D	0.99194	1.0871	9	.	.	.	.	14.5376	0.67971	0.0:0.2268:0.7732:0.0	.	353	P14679	TYRO_HUMAN	V	353	ENSP00000263321:G353V	.	G	+	2	0	TYR	88600660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.706000	0.61845	2.546000	0.85860	0.650000	0.86243	GGG		0.373	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		27	54	1	0	2.41591e-17	0.004656	3.0122e-17	27	54				
CNTN5	53942	broad.mit.edu	37	11	99715877	99715877	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:99715877G>T	ENST00000524871.1	+	6	750	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	CNTN5_ENST00000528682.1_Missense_Mutation_p.D154Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.D80Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.D154Y|CNTN5_ENST00000527185.1_Missense_Mutation_p.D154Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	154	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTTTGATAGATGGCACCTT	0.383																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(460-462)GAT>TAT		contactin 5 isoform long							124.0	117.0	119.0					11																	99715877		1855	4105	5960	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715877G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.460G>T	11.37:g.99715877G>T	ENSP00000435637:p.Asp154Tyr					CNTN5_uc009ywv.1_Missense_Mutation_p.D154Y|CNTN5_uc001pfz.2_Missense_Mutation_p.D154Y|CNTN5_uc001pgb.2_Missense_Mutation_p.D80Y	p.D154Y	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	799	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	154			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.460G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243069	0.79912	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.222920	0.45867	D	0.000332	T	0.79221	0.4409	L	0.60957	1.885	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.998	D;P;D	0.66084	0.92;0.707;0.941	T	0.80730	-0.1252	10	0.87932	D	0	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	154;80;154	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Y	154;154;154;80;154	ENSP00000433575:D154Y;ENSP00000436185:D154Y;ENSP00000435637:D154Y;ENSP00000393229:D80Y;ENSP00000279463:D154Y	ENSP00000279463:D154Y	D	+	1	0	CNTN5	99221087	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	9.476000	0.97823	2.597000	0.87782	0.650000	0.86243	GAT		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		34	99	1	0	6.50621e-10	0.002836	7.36269e-10	34	99				
GUCY1A2	2977	broad.mit.edu	37	11	106810187	106810187	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:106810187T>A	ENST00000526355.2	-	4	1673	c.1205A>T	c.(1204-1206)aAg>aTg	p.K402M	GUCY1A2_ENST00000282249.2_Splice_Site_p.K402M|GUCY1A2_ENST00000347596.2_Splice_Site_p.K402M	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	402					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AGCACTTACCTTGTCTTTATT	0.423																																							uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1204-1206)AAG>ATG		guanylate cyclase 1, soluble, alpha 2							86.0	91.0	89.0					11																	106810187		2200	4297	6497	SO:0001630	splice_region_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810187T>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1206+1A>T	11.37:g.106810187T>A						GUCY1A2_uc010rvo.1_Missense_Mutation_p.K402M|GUCY1A2_uc009yxn.1_Missense_Mutation_p.K402M	p.K402M	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1595	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	402					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1205A>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976889	0.74360	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89270	-2.49;-2.49;-2.47	5.67	5.67	0.87782	Haem NO binding associated (1);	0.000000	0.47455	U	0.000240	D	0.94079	0.8102	M	0.78637	2.42	0.80722	D	1	D;P;D	0.71674	0.998;0.729;0.998	D;B;D	0.76071	0.987;0.439;0.98	D	0.94284	0.7522	10	0.54805	T	0.06	.	15.0761	0.72077	0.0:0.0:0.0:1.0	.	402;402;402	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	M	402	ENSP00000431245:K402M;ENSP00000282249:K402M;ENSP00000344874:K402M	ENSP00000282249:K402M	K	-	2	0	GUCY1A2	106315397	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.162000	0.67917	0.482000	0.46254	AAG		0.423	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		Missense_Mutation	29	137	0	0	0	0.009535	0	29	137				
EXPH5	23086	broad.mit.edu	37	11	108380380	108380380	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:108380380G>C	ENST00000265843.4	-	6	5964	c.5854C>G	c.(5854-5856)Cca>Gca	p.P1952A	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1876A|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1945A|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1764A	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1952					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTTCACTTGGAGATAAGCCA	0.448																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(5854-5856)CCA>GCA		exophilin 5 isoform a							122.0	122.0	122.0					11																	108380380		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380380G>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5854C>G	11.37:g.108380380G>C	ENSP00000265843:p.Pro1952Ala					EXPH5_uc010rvy.1_Missense_Mutation_p.P1764A|EXPH5_uc010rvz.1_Missense_Mutation_p.P1796A|EXPH5_uc010rwa.1_Missense_Mutation_p.P1876A	p.P1952A	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5965	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1952					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5854C>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385185	0.61956	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.93	5.02	0.67125	.	0.195383	0.36703	N	0.002445	T	0.69052	0.3068	M	0.61703	1.905	0.23030	N	0.998408	P	0.51351	0.944	P	0.50825	0.651	T	0.65504	-0.6152	10	0.62326	D	0.03	-2.3073	15.4096	0.74908	0.0668:0.0:0.9332:0.0	.	1952	Q8NEV8	EXPH5_HUMAN	A	1952;1876;1764;1945;782	ENSP00000265843:P1952A;ENSP00000391966:P1876A;ENSP00000411390:P1764A;ENSP00000432546:P1945A	ENSP00000265843:P1952A	P	-	1	0	EXPH5	107885590	1.000000	0.71417	0.014000	0.15608	0.809000	0.45718	4.033000	0.57282	1.510000	0.48803	0.655000	0.94253	CCA		0.448	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		9	123	0	0	0	0.004482	0	9	123				
NCAM1	4684	broad.mit.edu	37	11	113103515	113103515	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:113103515G>A	ENST00000533760.1	+	11	1716	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	NCAM1_ENST00000316851.7_Missense_Mutation_p.E491K|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E500K	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	501	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGAGTCCTTGGAATTCATCCT	0.502																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(1225-1227)GAA>AAA		neural cell adhesion molecule 1 isoform 3							83.0	87.0	86.0					11																	113103515		1940	4138	6078	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113103515G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1117G>A	11.37:g.113103515G>A	ENSP00000473281:p.Glu373Lys						p.E409K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1919	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	501			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1225G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.693327	0.96793	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.65732	-0.17;-0.17	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.81513	0.4838	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.997;0.997;0.998;0.998	T	0.83251	-0.0053	9	0.87932	D	0	-17.3003	19.7622	0.96325	0.0:0.0:1.0:0.0	.	501;491;501;491	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	K	373;500;491	ENSP00000384055:E500K;ENSP00000318472:E491K	ENSP00000318472:E491K	E	+	1	0	NCAM1	112608725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.785000	0.99042	2.732000	0.93576	0.650000	0.86243	GAA		0.502	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		20	60	0	0	0	0.007413	0	20	60				
HTR3B	9177	broad.mit.edu	37	11	113780085	113780085	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:113780085C>A	ENST00000260191.2	+	2	378	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	HTR3B_ENST00000537778.1_Missense_Mutation_p.Q30K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	41					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCAGCTATTACAGAAATATCA	0.418																																							uc001pok.2		NA																	0					0						c.(121-123)CAG>AAG		5-hydroxytryptamine (serotonin) receptor 3B							128.0	114.0	119.0					11																	113780085		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113780085C>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.121C>A	11.37:g.113780085C>A	ENSP00000260191:p.Gln41Lys					HTR3B_uc001pol.2_Missense_Mutation_p.Q30K	p.Q41K	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	2	188	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	41			Extracellular (Potential).		B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.121C>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.584495	0.00872	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.78364	-1.17;-1.17	5.79	2.78	0.32641	Neurotransmitter-gated ion-channel ligand-binding (3);	0.192366	0.44097	D	0.000486	T	0.58595	0.2133	N	0.11870	0.19	0.19775	N	0.999959	B;P	0.34462	0.05;0.454	B;B	0.31946	0.015;0.138	T	0.42189	-0.9466	10	0.13853	T	0.58	-4.671	15.2833	0.73806	0.0:0.6024:0.3976:0.0	.	30;41	O95264-2;O95264	.;5HT3B_HUMAN	K	41;30	ENSP00000260191:Q41K;ENSP00000443118:Q30K	ENSP00000260191:Q41K	Q	+	1	0	HTR3B	113285295	0.043000	0.20138	0.006000	0.13384	0.140000	0.21249	0.522000	0.22909	0.308000	0.22923	0.655000	0.94253	CAG		0.418	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		23	98	1	0	1.10923e-09	0.00278	1.24519e-09	23	98				
DSCAML1	57453	broad.mit.edu	37	11	117389416	117389416	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:117389416G>T	ENST00000321322.6	-	7	1456	c.1455C>A	c.(1453-1455)ttC>ttA	p.F485L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F215L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	425	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACATCAGTGAGAACTGCTCCC	0.677																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1453-1455)TTC>TTA		Down syndrome cell adhesion molecule like 1							38.0	39.0	38.0					11																	117389416		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389416G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1455C>A	11.37:g.117389416G>T	ENSP00000315465:p.Phe485Leu					DSCAML1_uc001pri.1_Missense_Mutation_p.F289L	p.F485L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1457	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	425			Extracellular (Potential).|Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1455C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064780	0.55432	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.36157	1.27;1.27	4.3	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.	.	.	.	T	0.24044	0.0582	N	0.12961	0.28	0.80722	D	1	B;B	0.17852	0.019;0.024	B;B	0.28011	0.051;0.085	T	0.07121	-1.0789	9	0.41790	T	0.15	.	10.5797	0.45248	0.089:0.0:0.911:0.0	.	215;425	G3V1B5;Q8TD84	.;DSCL1_HUMAN	L	215;485;192	ENSP00000434335:F215L;ENSP00000315465:F485L	ENSP00000315465:F485L	F	-	3	2	DSCAML1	116894626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.305000	0.51873	2.203000	0.70933	0.555000	0.69702	TTC		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		11	45	1	0	9.70103e-10	0.008291	1.09276e-09	11	45				
MPZL3	196264	broad.mit.edu	37	11	118122970	118122970	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:118122970G>A	ENST00000278949.4	-	1	95	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	MPZL3_ENST00000525386.1_Missense_Mutation_p.L14F|MPZL3_ENST00000527472.1_Missense_Mutation_p.L14F			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	14					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGGGAAGAGAGCGCAGCCA	0.612																																							uc001psm.2		NA																	0					0						c.(40-42)CTC>TTC		myelin protein zero-like 3 precursor							66.0	71.0	69.0					11																	118122970		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118122970G>A	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.40C>T	11.37:g.118122970G>A	ENSP00000278949:p.Leu14Phe					MPZL3_uc010rxy.1_Missense_Mutation_p.L14F|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_RNA	p.L14F	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	1	42	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	14					A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.40C>T	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517791	0.44763	.	.	ENSG00000160588	ENST00000278949;ENST00000525386;ENST00000527472	D;D	0.97186	-3.79;-4.28	5.79	2.48	0.30137	.	0.405543	0.21532	N	0.073028	D	0.92525	0.7626	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.10450	0.002;0.005	D	0.85613	0.1259	10	0.44086	T	0.13	.	7.793	0.29131	0.3342:0.0:0.6658:0.0	.	14;14	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	F	14	ENSP00000278949:L14F;ENSP00000432106:L14F	ENSP00000278949:L14F	L	-	1	0	MPZL3	117628180	0.962000	0.33011	0.188000	0.23233	0.182000	0.23217	1.130000	0.31393	0.797000	0.33971	0.655000	0.94253	CTC		0.612	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		11	137	0	0	0	0.001368	0	11	137				
BCL9L	283149	broad.mit.edu	37	11	118773142	118773142	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:118773142C>A	ENST00000334801.3	-	6	2274	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	437	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTCACCCGCTCCTCCTGGGGG	0.682																																							uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1309-1311)GGA>GTA		B-cell CLL/lymphoma 9-like							11.0	15.0	13.0					11																	118773142		2117	4179	6296	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773142C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1310G>T	11.37:g.118773142C>A	ENSP00000335320:p.Gly437Val					BCL9L_uc009zal.2_Missense_Mutation_p.G432V	p.G437V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2275	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	437			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1310G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.056840	0.01965	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.66638	-0.22	4.76	1.54	0.23209	.	0.783976	0.10599	N	0.655830	T	0.54062	0.1835	N	0.14661	0.345	0.20403	N	0.999905	B;B	0.27882	0.16;0.192	B;B	0.34824	0.119;0.19	T	0.54397	-0.8300	10	0.72032	D	0.01	-0.245	12.8773	0.57998	0.1064:0.5525:0.3411:0.0	.	432;437	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	437;400;437;437	ENSP00000335320:G437V	ENSP00000335320:G437V	G	-	2	0	BCL9L	118278352	0.000000	0.05858	0.041000	0.18516	0.182000	0.23217	0.411000	0.21115	0.569000	0.29329	0.305000	0.20034	GGA		0.682	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		22	35	1	0	1.87028e-06	0.012319	1.99877e-06	22	35				
C11orf63	79864	broad.mit.edu	37	11	122830098	122830098	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:122830098G>C	ENST00000531316.1	+	8	2374	c.2282G>C	c.(2281-2283)aGa>aCa	p.R761T	C11orf63_ENST00000227349.2_Missense_Mutation_p.R761T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	761					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTGCAGAACAGACACGAAAGG	0.408																																							uc001pym.2		NA																	0				ovary(3)	3						c.(2281-2283)AGA>ACA		hypothetical protein LOC79864 isoform 1							100.0	92.0	95.0					11																	122830098		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122830098G>C	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.2282G>C	11.37:g.122830098G>C	ENSP00000431669:p.Arg761Thr						p.R761T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	9	2579	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	761					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.2282G>C	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723283	0.89298	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.63096	-0.02;-0.02	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.76002	2.32	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.81217	-0.1033	10	0.87932	D	0	-25.725	18.374	0.90430	0.0:0.0:1.0:0.0	.	761	Q6NUN7	CK063_HUMAN	T	761	ENSP00000227349:R761T;ENSP00000431669:R761T	ENSP00000227349:R761T	R	+	2	0	C11orf63	122335308	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.318000	0.89990	2.779000	0.95612	0.591000	0.81541	AGA		0.408	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		3	67	0	0	0	0.004672	0	3	67				
OR8D1	283159	broad.mit.edu	37	11	124179778	124179778	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124179778C>A	ENST00000357821.2	-	1	955	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCTTCACATCCTTATTCCTCA	0.418																																							uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(883-885)AAG>AAT		olfactory receptor, family 8, subfamily D,							105.0	106.0	105.0					11																	124179778		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179778C>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.885G>T	11.37:g.124179778C>A	ENSP00000350474:p.Lys295Asn						p.K295N	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	885	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	295			Cytoplasmic (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.885G>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.904983	0.33628	.	.	ENSG00000196341	ENST00000357821	T	0.45668	0.89	4.29	0.0848	0.14439	.	0.000000	0.38381	U	0.001709	T	0.44561	0.1299	M	0.87038	2.855	0.32043	N	0.597914	B	0.28667	0.219	B	0.33042	0.157	T	0.51434	-0.8706	10	0.72032	D	0.01	.	5.4123	0.16354	0.0:0.5387:0.1346:0.3267	.	295	Q8WZ84	OR8D1_HUMAN	N	295	ENSP00000350474:K295N	ENSP00000350474:K295N	K	-	3	2	OR8D1	123684988	0.084000	0.21492	0.690000	0.30148	0.169000	0.22640	-0.184000	0.09698	0.105000	0.17753	0.508000	0.49915	AAG		0.418	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		23	80	1	0	1.87028e-06	0.012319	1.99877e-06	23	80				
OR8D1	283159	broad.mit.edu	37	11	124180649	124180649	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124180649T>A	ENST00000357821.2	-	1	84	c.14A>T	c.(13-15)aAt>aTt	p.N5I		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CATAGAATAATTTTCCATGGT	0.418																																							uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(13-15)AAT>ATT		olfactory receptor, family 8, subfamily D,							45.0	49.0	47.0					11																	124180649		2199	4295	6494	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180649T>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.14A>T	11.37:g.124180649T>A	ENSP00000350474:p.Asn5Ile						p.N5I	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	14	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	5			Extracellular (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.14A>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	t	14.69	2.609241	0.46527	.	.	ENSG00000196341	ENST00000357821	T	0.02197	4.4	4.42	4.42	0.53409	.	0.000000	0.39210	U	0.001438	T	0.15869	0.0382	H	0.95574	3.69	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.20075	-1.0286	10	0.87932	D	0	.	6.5819	0.22598	0.0:0.1063:0.0:0.8937	.	5	Q8WZ84	OR8D1_HUMAN	I	5	ENSP00000350474:N5I	ENSP00000350474:N5I	N	-	2	0	OR8D1	123685859	1.000000	0.71417	0.062000	0.19696	0.009000	0.06853	3.281000	0.51685	1.869000	0.54173	0.491000	0.48974	AAT		0.418	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		15	108	0	0	0	0.004007	0	15	108				
OR8B4	283162	broad.mit.edu	37	11	124294248	124294248	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124294248C>A	ENST00000356130.3	-	1	541	c.520G>T	c.(520-522)Gac>Tac	p.D174Y		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGATAATGGTCAATGACGTTG	0.502																																							uc010sak.1		NA																	0				skin(1)	1						c.(520-522)GAC>TAC		olfactory receptor, family 8, subfamily B,							94.0	64.0	74.0					11																	124294248		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294248C>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.520G>T	11.37:g.124294248C>A	ENSP00000348449:p.Asp174Tyr						p.D174Y	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	520	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	174			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.520G>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	2.785	-0.252718	0.05829	.	.	ENSG00000198657	ENST00000356130	T	0.00193	8.58	4.02	-4.94	0.03057	GPCR, rhodopsin-like superfamily (1);	0.540328	0.16222	N	0.224012	T	0.00144	0.0004	M	0.62154	1.92	0.09310	N	0.999996	B	0.09022	0.002	B	0.12837	0.008	T	0.47368	-0.9123	10	0.87932	D	0	.	3.1429	0.06462	0.0869:0.2538:0.3425:0.3169	.	174	Q96RC9	OR8B4_HUMAN	Y	174	ENSP00000348449:D174Y	ENSP00000348449:D174Y	D	-	1	0	OR8B4	123799458	0.000000	0.05858	0.003000	0.11579	0.079000	0.17450	-0.658000	0.05329	-1.027000	0.03325	-0.841000	0.03054	GAC		0.502	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		14	26	1	0	9.31168e-06	0.001855	9.82287e-06	14	26				
ROBO4	54538	broad.mit.edu	37	11	124763875	124763875	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124763875C>T	ENST00000306534.3	-	9	1870	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.R317K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	462					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGGTAGCCCTCAGCTGCTC	0.642																																							uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(1384-1386)AGG>AAG		roundabout homolog 4, magic roundabout							37.0	34.0	35.0					11																	124763875		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763875C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1385G>A	11.37:g.124763875C>T	ENSP00000304945:p.Arg462Lys					ROBO4_uc010sas.1_Missense_Mutation_p.R317K|ROBO4_uc001qbh.2_Missense_Mutation_p.R352K|ROBO4_uc001qbi.2_Missense_Mutation_p.R20K|ROBO4_uc010sat.1_Missense_Mutation_p.R20K	p.R462K	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	9	1525	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	462					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1385G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	4.499	0.092531	0.08632	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.62639	0.01;0.37	5.03	1.56	0.23342	.	0.588822	0.14273	N	0.330006	T	0.36936	0.0985	N	0.22421	0.69	0.26218	N	0.979202	B;B;B	0.15473	0.0;0.002;0.013	B;B;B	0.08055	0.003;0.002;0.002	T	0.27905	-1.0060	10	0.02654	T	1	.	5.1447	0.14979	0.0:0.5101:0.0:0.4899	.	462;352;462	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	K	462;352;317	ENSP00000304945:R462K;ENSP00000437129:R317K	ENSP00000304945:R462K	R	-	2	0	ROBO4	124269085	0.400000	0.25295	0.996000	0.52242	0.758000	0.43043	-0.187000	0.09656	0.476000	0.27440	0.655000	0.94253	AGG		0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		6	16	0	0	0	0.001168	0	6	16				
HEPN1	641654	broad.mit.edu	37	11	124793277	124793277	+	IGR	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124793277C>A	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Silent_p.V254V	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TCACCAAGGTCACAAGGAGGA	0.522																																							uc001qbk.2		NA																	0				pancreas(1)	1						c.(760-762)GTG>GTT		hepatocyte cell adhesion molecule precursor							160.0	150.0	154.0					11																	124793277		2201	4299	6500	SO:0001628	intergenic_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793277C>A	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124793277C>A						HEPACAM_uc009zbj.2_5'UTR|HEPACAM_uc001qbl.1_Silent_p.V254V	p.V254V	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	4	1168	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	254			Helical; (Potential).			Silent	SNP	ENST00000408930.5	37	c.762G>T	CCDS41729.1																																																																																				0.522	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		73	112	1	0	4.37588e-27	0.00361	6.02298e-27	73	112				
NTM	50863	broad.mit.edu	37	11	132204977	132204977	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:132204977G>C	ENST00000374786.1	+	7	1451	c.972G>C	c.(970-972)tcG>tcC	p.S324S	NTM_ENST00000427481.2_Silent_p.S326S|NTM_ENST00000425719.2_Silent_p.S335S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.S335S|NTM_ENST00000374791.3_Silent_p.S324S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	324					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACGGCACGTCGAGGAGGGCAG	0.607																																							uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(970-972)TCG>TCC		neurotrimin isoform 1							109.0	109.0	109.0					11																	132204977		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132204977G>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.972G>C	11.37:g.132204977G>C						NTM_uc001qgm.2_Silent_p.S324S|NTM_uc010sch.1_Silent_p.S326S|NTM_uc010sci.1_Silent_p.S335S|NTM_uc010scj.1_Silent_p.S283S|NTM_uc001qgq.2_Silent_p.S335S|NTM_uc001qgr.2_Silent_p.S106S	p.S324S	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			7	1636	+			324					A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.972G>C	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	1.671	-0.508989	0.04231	.	.	ENSG00000182667	ENST00000457381	.	.	.	5.13	0.166	0.14999	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27468	-1.0073	4	.	.	.	0.8325	5.6693	0.17713	0.3794:0.1405:0.4802:0.0	.	.	.	.	P	99	.	.	R	+	2	0	NTM	131710187	0.010000	0.17322	0.211000	0.23655	0.694000	0.40290	-0.123000	0.10611	0.326000	0.23384	0.650000	0.86243	CGA		0.607	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		36	162	0	0	0	0.006999	0	36	162				
OPCML	4978	broad.mit.edu	37	11	132399049	132399049	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:132399049G>A	ENST00000331898.7	-	3	1010	c.432C>T	c.(430-432)gaC>gaT	p.D144D	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.D137D|OPCML_ENST00000541867.1_Silent_p.D144D|OPCML_ENST00000374778.4_Silent_p.D103D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	144	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.D144E(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGTGATGTCTGAGGAGA	0.453																																							uc001qgs.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(430-432)GAC>GAT		opioid binding protein/cell adhesion							113.0	89.0	97.0					11																	132399049		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132399049G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.432C>T	11.37:g.132399049G>A						OPCML_uc001qgu.2_Silent_p.D137D|OPCML_uc010sck.1_Silent_p.D144D|OPCML_uc001qgt.2_Silent_p.D144D|OPCML_uc010scl.1_Silent_p.D103D	p.D144D	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	3	482	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	144			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.432C>T	CCDS8492.1																																																																																				0.453	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		17	47	0	0	0	0.004007	0	17	47				
ACAD8	27034	broad.mit.edu	37	11	134132438	134132438	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:134132438C>T	ENST00000281182.4	+	10	1223	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	ACAD8_ENST00000374752.4_Missense_Mutation_p.H246Y|ACAD8_ENST00000537423.1_Missense_Mutation_p.H296Y|ACAD8_ENST00000543332.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	373					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	CTTGCAGATGCACGGGGGCTA	0.552											OREG0021549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(65;238 1125 33403 41853 48889)	GBM(65;238 1125 33403 41853 48889)	uc001qhk.2		NA																	0					0						c.(1117-1119)CAC>TAC		acyl-Coenzyme A dehydrogenase family, member 8							62.0	51.0	55.0					11																	134132438		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134132438C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.1117C>T	11.37:g.134132438C>T	ENSP00000281182:p.His373Tyr		OREG0021549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1608	ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.H296Y|ACAD8_uc001qhl.2_Missense_Mutation_p.H246Y	p.H373Y	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	10	1178	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	373			FAD; shared with dimeric partner.		B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.1117C>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	C	36	5.655119	0.96724	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.96300	-3.97;-3.97;-3.97	5.75	5.75	0.90469	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.69248	2.105	0.80722	D	1	P;P;P	0.43578	0.65;0.811;0.811	B;P;B	0.44673	0.27;0.457;0.361	D	0.95597	0.8659	10	0.42905	T	0.14	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	296;246;373	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	Y	373;296;246	ENSP00000281182:H373Y;ENSP00000443763:H296Y;ENSP00000363884:H246Y	ENSP00000281182:H373Y	H	+	1	0	ACAD8	133637648	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.575000	0.82447	2.725000	0.93324	0.655000	0.94253	CAC		0.552	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		15	28	0	0	0	0.006122	0	15	28				
SCNN1A	6337	broad.mit.edu	37	12	6457372	6457372	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:6457372G>A	ENST00000228916.2	-	13	1775	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Silent_p.F581F|SCNN1A_ENST00000543768.1_Silent_p.F582F|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000540037.1_Silent_p.F259F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567																																							uc001qnx.2		NA																	0					0						c.(1675-1677)TTC>TTT		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						66.0	64.0	65.0					12																	6457372		2203	4300	6503	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457372G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1677C>T	12.37:g.6457372G>A						SCNN1A_uc001qnv.2_Silent_p.F259F|SCNN1A_uc001qnw.2_Silent_p.F618F|SCNN1A_uc010sfb.1_Silent_p.F582F	p.F559F	NM_001038	NP_001029	P37088	SCNNA_HUMAN			13	1966	-			559			Helical; (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1677C>T	CCDS8543.1																																																																																				0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			23	117	0	0	0	0.00333	0	23	117				
NCAPD2	9918	broad.mit.edu	37	12	6635486	6635486	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:6635486C>T	ENST00000315579.5	+	20	3314	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.L794L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	839					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCCTTCCGGCTGCCTCAGGA	0.562																																							uc001qoo.2		NA																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(2515-2517)CTG>TTG		non-SMC condensin I complex, subunit D2							88.0	86.0	87.0					12																	6635486		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6635486C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2515C>T	12.37:g.6635486C>T						NCAPD2_uc009zen.1_Silent_p.L711L|NCAPD2_uc010sfd.1_Silent_p.L794L	p.L839L	NM_014865	NP_055680	Q15021	CND1_HUMAN			20	2561	+			839					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.2515C>T	CCDS8548.1																																																																																				0.562	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		80	48	0	0	0	0.00361	0	80	48				
DUSP16	80824	broad.mit.edu	37	12	12629939	12629939	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:12629939G>A	ENST00000228862.2	-	7	2457	c.1826C>T	c.(1825-1827)tCg>tTg	p.S609L	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	609					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCTCCGCCGCGAGTCAGCTCT	0.542																																					Ovarian(158;443 1896 15437 36069 46477)	Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NA																	0					0						c.(1825-1827)TCG>TTG		dual specificity phosphatase 16							96.0	102.0	100.0					12																	12629939		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12629939G>A	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1826C>T	12.37:g.12629939G>A	ENSP00000228862:p.Ser609Leu					DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S461L	p.S609L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	2458	-		Prostate(47;0.0687)	609					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1826C>T	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215036	0.79352	.	.	ENSG00000111266	ENST00000228862	T	0.02067	4.47	4.88	4.88	0.63580	.	1.695430	0.03281	N	0.186104	T	0.13243	0.0321	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61874	0.895;0.895	T	0.02031	-1.1226	10	0.62326	D	0.03	.	18.5778	0.91161	0.0:0.0:1.0:0.0	.	609;609	Q9BY84;Q96N49	DUS16_HUMAN;.	L	609	ENSP00000228862:S609L	ENSP00000228862:S609L	S	-	2	0	DUSP16	12521206	1.000000	0.71417	0.959000	0.39883	0.638000	0.38207	9.336000	0.96533	2.679000	0.91253	0.655000	0.94253	TCG		0.542	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		12	216	0	0	0	0.010729	0	12	216				
CAPZA3	93661	broad.mit.edu	37	12	18889244	18889244	+	5'Flank	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:18889244C>A	ENST00000317658.3	+	0	0				PLCZ1_ENST00000266505.7_Missense_Mutation_p.G16C|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G16C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G14C|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G14C	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.G16S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATTTTTCCACCTCTGAAGTCA	0.303																																							uc010sid.1		NA																	1	Substitution - Missense(1)		NS(1)	ovary(1)|lung(1)|skin(1)	3						c.(46-48)GGT>TGT		phospholipase C, zeta 1							68.0	69.0	69.0					12																	18889244		2203	4300	6503	SO:0001631	upstream_gene_variant	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18889244C>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889244C>A	Exception_encountered					PLCZ1_uc001rdv.3_Translation_Start_Site|PLCZ1_uc001rdw.3_Translation_Start_Site|CAPZA3_uc001rdy.2_5'Flank	p.G16C	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			3	237	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		16					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.46G>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931182	0.52866	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.45276	0.9;0.9;1.77;1.77;0.9	5.5	3.56	0.40772	.	0.541402	0.18255	N	0.146823	T	0.43211	0.1237	L	0.55481	1.735	0.80722	D	1	D	0.63880	0.993	P	0.49999	0.628	T	0.42032	-0.9475	10	0.87932	D	0	.	6.0516	0.19789	0.3396:0.5741:0.0:0.0863	.	16	Q86YW0	PLCZ1_HUMAN	C	16;14;14;16;36	ENSP00000266505:G16C;ENSP00000402358:G14C;ENSP00000400504:G14C;ENSP00000445026:G16C;ENSP00000438629:G36C	ENSP00000266505:G16C	G	-	1	0	PLCZ1	18780511	0.988000	0.35896	1.000000	0.80357	0.676000	0.39594	0.966000	0.29331	1.324000	0.45282	0.313000	0.20887	GGT		0.303	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		14	46	1	0	0.000219431	0.00245	0.0002278	14	46				
SOX5	6660	broad.mit.edu	37	12	23757416	23757416	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:23757416G>C	ENST00000451604.2	-	9	1170	c.1069C>G	c.(1069-1071)Ctg>Gtg	p.L357V	SOX5_ENST00000545921.1_Missense_Mutation_p.L347V|SOX5_ENST00000546136.1_Missense_Mutation_p.L344V|SOX5_ENST00000309359.1_Missense_Mutation_p.L344V|SOX5_ENST00000381381.2_Missense_Mutation_p.L344V|SOX5_ENST00000537393.1_Missense_Mutation_p.L322V|SOX5_ENST00000541536.1_Missense_Mutation_p.L344V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	357					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATGCCTGGCAGCTTCCCTCCT	0.488																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1069-1071)CTG>GTG		SRY (sex determining region Y)-box 5 isoform a							127.0	108.0	114.0					12																	23757416		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23757416G>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1069C>G	12.37:g.23757416G>C	ENSP00000398273:p.Leu357Val					SOX5_uc001rfx.2_Missense_Mutation_p.L344V|SOX5_uc001rfy.2_Missense_Mutation_p.L344V|SOX5_uc010siv.1_Missense_Mutation_p.L344V|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.L309V	p.L357V	NM_006940	NP_008871	P35711	SOX5_HUMAN			9	1171	-			357					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1069C>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758346	0.31137	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.09;-4.14;-4.13;-4.09;-4.14	6.16	4.04	0.47022	.	0.451630	0.21017	N	0.081581	D	0.90686	0.7078	N	0.17474	0.49	0.30000	N	0.81613	B;B;B	0.33919	0.013;0.432;0.001	B;B;B	0.37833	0.036;0.259;0.002	D	0.85718	0.1323	10	0.17832	T	0.49	.	8.2571	0.31763	0.1547:0.0:0.6838:0.1615	.	322;344;357	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	V	344;344;344;357;309;322;344;347	ENSP00000437487:L344V;ENSP00000308927:L344V;ENSP00000370788:L344V;ENSP00000398273:L357V;ENSP00000439832:L322V;ENSP00000441973:L344V;ENSP00000443520:L347V	ENSP00000308927:L344V	L	-	1	2	SOX5	23648683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	1.616000	0.50265	0.650000	0.86243	CTG		0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		31	74	0	0	0	0.004878	0	31	74				
OVCH1	341350	broad.mit.edu	37	12	29649551	29649551	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:29649551A>C	ENST00000318184.5	-	2	120	c.121T>G	c.(121-123)Tct>Gct	p.S41A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	41	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AAGAATCTAGATCCCACGGCA	0.428																																							uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(121-123)TCT>GCT		ovochymase 1 precursor							145.0	138.0	140.0					12																	29649551		1873	4099	5972	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649551A>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.121T>G	12.37:g.29649551A>C	ENSP00000326708:p.Ser41Ala						p.S41A	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			2	121	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		41			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.121T>G		.	.	.	.	.	.	.	.	.	.	A	0.010	-1.756449	0.00657	.	.	ENSG00000187950	ENST00000318184	D	0.92805	-3.11	2.89	0.34	0.15985	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.80549	0.4644	N	0.16307	0.4	0.09310	N	1	B	0.26363	0.147	B	0.17433	0.018	T	0.66288	-0.5961	9	0.25106	T	0.35	.	3.5082	0.07699	0.5336:0.2372:0.0:0.2292	.	41	Q7RTY7	OVCH1_HUMAN	A	41	ENSP00000326708:S41A	ENSP00000326708:S41A	S	-	1	0	OVCH1	29540818	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.491000	0.06474	0.058000	0.16222	0.459000	0.35465	TCT		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		78	104	0	0	0	0.00361	0	78	104				
PFKM	5213	broad.mit.edu	37	12	48527166	48527166	+	Missense_Mutation	SNP	G	G	A	rs150522604		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:48527166G>A	ENST00000312352.7	+	6	535	c.496G>A	c.(496-498)Gac>Aac	p.D166N	PFKM_ENST00000340802.6_Missense_Mutation_p.D237N|PFKM_ENST00000359794.5_Missense_Mutation_p.D166N|PFKM_ENST00000547587.1_Missense_Mutation_p.D166N|PFKM_ENST00000395233.2_Missense_Mutation_p.D166N|PFKM_ENST00000551804.1_Missense_Mutation_p.D166N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	166	N-terminal catalytic PFK domain 1.|Substrate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGTCAATTGACAATGACTT	0.507																																							uc001rrc.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(496-498)GAC>AAC		phosphofructokinase, muscle							180.0	144.0	156.0					12																	48527166		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48527166G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.496G>A	12.37:g.48527166G>A	ENSP00000309438:p.Asp166Asn					PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Missense_Mutation_p.D237N|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Missense_Mutation_p.D166N|PFKM_uc001rrg.1_Missense_Mutation_p.D166N	p.D166N	NM_000289	NP_000280	P08237	K6PF_HUMAN			6	666	+			166				Proton acceptor (By similarity).	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.496G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541343	0.96474	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	4.22	4.22	0.49857	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95484	0.8533	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97092	0.9791	9	.	.	.	-27.7015	16.5511	0.84473	0.0:0.0:1.0:0.0	.	166;166;237	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	N	237;166;166;166;166;166	ENSP00000345771:D237N;ENSP00000352842:D166N;ENSP00000378656:D166N;ENSP00000448177:D166N;ENSP00000449426:D166N;ENSP00000309438:D166N	.	D	+	1	0	PFKM	46813433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.637000	0.89404	0.555000	0.69702	GAC		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		33	91	0	0	0	0.010818	0	33	91				
PRPH	5630	broad.mit.edu	37	12	49691154	49691154	+	Silent	SNP	C	C	T	rs571876859		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:49691154C>T	ENST00000257860.4	+	6	2510	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGGCGCTGCTCAGGCAGTTGA	0.662											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rtu.2		NA																	0					0						c.(1009-1011)CTC>CTT		peripherin							18.0	22.0	21.0					12																	49691154		2201	4297	6498	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49691154C>T		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1011C>T	12.37:g.49691154C>T			OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964		p.L337L	NM_006262	NP_006253	P41219	PERI_HUMAN			6	1086	+			337			Coil 2.|Rod.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.1011C>T	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307239	0.60305	.	.	ENSG00000135406	ENST00000532332	.	.	.	5.86	0.904	0.19302	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7538	0.18162	0.1175:0.3199:0.4819:0.0806	.	.	.	.	X	66	.	.	Q	+	1	0	PRPH	47977421	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	2.121000	0.41977	0.790000	0.33803	0.655000	0.94253	CAG		0.662	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		7	52	0	0	0	0.001984	0	7	52				
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	G	A	rs530407671		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:52827609G>A	ENST00000252245.5	-	1	700	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	160	Coil 1A.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18826	0.0		0.0	False		,,,				2504	0.0						uc001saj.2		NA																	0					0						c.(478-480)TTC>TTT		keratin 75							157.0	157.0	157.0					12																	52827609		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52827609G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.480C>T	12.37:g.52827609G>A							p.F160F	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	502	-			160			Coil 1A.|Rod.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.480C>T	CCDS8827.1																																																																																				0.562	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		28	190	0	0	0	0.010818	0	28	190				
KRT3	3850	broad.mit.edu	37	12	53186142	53186142	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:53186142G>C	ENST00000417996.2	-	5	1143	c.1069C>G	c.(1069-1071)Ctg>Gtg	p.L357V	KRT3_ENST00000309505.3_Missense_Mutation_p.L357V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	357	Linker 12.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCATGGACAGCACCACAGAT	0.512																																							uc001say.2		NA																	0					0						c.(1069-1071)CTG>GTG		keratin 3							73.0	72.0	73.0					12																	53186142		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53186142G>C		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1069C>G	12.37:g.53186142G>C	ENSP00000413479:p.Leu357Val						p.L357V	NM_057088	NP_476429	P12035	K2C3_HUMAN			5	1135	-			357			Rod.|Linker 12.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1069C>G	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616460	0.66672	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.85088	-1.94;-1.94	4.51	3.53	0.40419	Filament (1);	0.000000	0.35235	N	0.003360	D	0.85435	0.5696	L	0.41415	1.275	0.38394	D	0.945496	D	0.56746	0.977	P	0.55303	0.773	D	0.87894	0.2686	10	0.62326	D	0.03	.	13.6298	0.62189	0.0:0.2546:0.7454:0.0	.	357	P12035	K2C3_HUMAN	V	357	ENSP00000413479:L357V;ENSP00000312206:L357V	ENSP00000312206:L357V	L	-	1	2	KRT3	51472409	0.052000	0.20516	0.992000	0.48379	0.974000	0.67602	0.477000	0.22196	2.204000	0.70986	0.491000	0.48974	CTG		0.512	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		29	29	0	0	0	0.005524	0	29	29				
CAND1	55832	broad.mit.edu	37	12	67696224	67696224	+	Silent	SNP	C	C	T	rs201264410	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:67696224C>T	ENST00000545606.1	+	8	1559	c.1122C>T	c.(1120-1122)acC>acT	p.T374T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	374					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTACAAGACCGTCTCTCCTG	0.433													C|||	19	0.00379393	0.0	0.0	5008	,	,		19923	0.0		0.0	False		,,,				2504	0.0194						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1120-1122)ACC>ACT		TIP120 protein							208.0	193.0	198.0					12																	67696224		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67696224C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1122C>T	12.37:g.67696224C>T						CAND1_uc001sto.2_Silent_p.T52T	p.T374T	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	8	1559	+			374			HEAT 9.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.1122C>T	CCDS8977.1																																																																																				0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		87	53	0	0	0	0.00361	0	87	53				
YEATS4	8089	broad.mit.edu	37	12	69759413	69759413	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:69759413G>C	ENST00000247843.2	+	3	442	c.172G>C	c.(172-174)Gat>Cat	p.D58H	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	58	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TATATTTTAGGATATGTCAGC	0.269																																							uc001sux.2		NA																	0					0						c.(172-174)GAT>CAT		glioma-amplified sequence-41							64.0	69.0	68.0					12																	69759413		2198	4287	6485	SO:0001630	splice_region_variant	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69759413G>C	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.172-1G>C	12.37:g.69759413G>C							p.D58H	NM_006530	NP_006521	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		3	393	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		58			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.172G>C	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809923	0.90707	.	.	ENSG00000127337	ENST00000247843;ENST00000552955	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.93808	3.46	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.89518	0.3776	8	.	.	.	-30.019	20.0625	0.97681	0.0:0.0:1.0:0.0	.	58	O95619	YETS4_HUMAN	H	58;99	.	.	D	+	1	0	YEATS4	68045680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.332000	0.96446	2.816000	0.96949	0.561000	0.74099	GAT		0.269	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530	Missense_Mutation	54	37	0	0	0	0.00361	0	54	37				
LRRC10	376132	broad.mit.edu	37	12	70003877	70003877	+	Missense_Mutation	SNP	C	C	T	rs373847240		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:70003877C>T	ENST00000361484.3	-	1	1065	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	248					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.D248N(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTTCTAGGGTCGGGCTCTGGC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19837	0.0		0.0	False		,,,				2504	0.001						uc001svc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(742-744)GAC>AAC		leucine rich repeat containing 10		C	ASN/ASP	0,4406		0,0,2203	96.0	80.0	86.0		742	3.7	1.0	12		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC10	NM_201550.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	248/278	70003877	1,13005	2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70003877C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.742G>A	12.37:g.70003877C>T	ENSP00000355166:p.Asp248Asn						p.D248N	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1066	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		248					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.742G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209351	0.39003	0.0	1.16E-4	ENSG00000198812	ENST00000361484	T	0.56611	0.45	5.63	3.69	0.42338	.	0.461225	0.26029	N	0.026772	T	0.38532	0.1044	L	0.44542	1.39	0.29690	N	0.840995	B	0.15719	0.014	B	0.08055	0.003	T	0.22695	-1.0209	10	0.17832	T	0.49	.	7.3461	0.26664	0.0:0.7409:0.1695:0.0896	.	248	Q5BKY1	LRC10_HUMAN	N	248	ENSP00000355166:D248N	ENSP00000355166:D248N	D	-	1	0	LRRC10	68290144	.	.	0.975000	0.42487	0.911000	0.54048	.	.	1.513000	0.48852	0.561000	0.74099	GAC		0.587	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		24	57	0	0	0	0.00333	0	24	57				
PTPRR	5801	broad.mit.edu	37	12	71092123	71092123	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:71092123G>T	ENST00000283228.2	-	8	1653	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PTPRR_ENST00000549308.1_Missense_Mutation_p.P156T|PTPRR_ENST00000342084.4_Missense_Mutation_p.P289T|PTPRR_ENST00000440835.2_Missense_Mutation_p.P156T|PTPRR_ENST00000378778.1_Missense_Mutation_p.P195T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	401	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGTTCATTGGTATTTCCTGC	0.338																																							uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.(1201-1203)CCA>ACA		protein tyrosine phosphatase, receptor type, R							60.0	63.0	62.0					12																	71092123		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71092123G>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1201C>A	12.37:g.71092123G>T	ENSP00000283228:p.Pro401Thr					PTPRR_uc001swh.1_Missense_Mutation_p.P156T|PTPRR_uc009zrs.2_Missense_Mutation_p.P250T|PTPRR_uc010stq.1_Missense_Mutation_p.P289T|PTPRR_uc010str.1_Missense_Mutation_p.P250T	p.P401T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	8	1617	-			401			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1201C>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320291	0.81469	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.52532	D	0.000070	T	0.57607	0.2065	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.57648	-0.7775	10	0.87932	D	0	-10.3634	20.0341	0.97551	0.0:0.0:1.0:0.0	.	250;289;195;401	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	T	156;401;195;289;156;156	ENSP00000391750:P156T;ENSP00000283228:P401T;ENSP00000368054:P195T;ENSP00000339605:P289T;ENSP00000446943:P156T;ENSP00000449616:P156T	ENSP00000283228:P401T	P	-	1	0	PTPRR	69378390	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.521000	0.90569	2.753000	0.94483	0.555000	0.69702	CCA		0.338	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		43	17	1	0	2.35958e-20	0.009718	3.03464e-20	43	17				
NAV3	89795	broad.mit.edu	37	12	78515788	78515788	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:78515788C>T	ENST00000397909.2	+	16	3991	c.3818C>T	c.(3817-3819)tCa>tTa	p.S1273L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1273L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1273L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1273	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATCTTCCTCAGTAATGCCC	0.527										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3817-3819)TCA>TTA		neuron navigator 3							51.0	51.0	51.0					12																	78515788		2060	4209	6269	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515788C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3818C>T	12.37:g.78515788C>T	ENSP00000381007:p.Ser1273Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1273L|NAV3_uc010sub.1_Missense_Mutation_p.S773L|NAV3_uc009zsf.2_Intron	p.S1273L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	3991	+			1273			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3818C>T		.	.	.	.	.	.	.	.	.	.	C	29.4	5.003493	0.93287	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.29655	1.56;1.58;1.56	6.06	6.06	0.98353	.	0.000000	0.33959	U	0.004394	T	0.58424	0.2121	M	0.69823	2.125	0.80722	D	1	P;D;P	0.76494	0.949;0.999;0.493	P;D;B	0.80764	0.642;0.994;0.205	T	0.54221	-0.8326	10	0.52906	T	0.07	-11.8482	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1273;1273;1273	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	L	1273	ENSP00000446132:S1273L;ENSP00000381007:S1273L;ENSP00000228327:S1273L	ENSP00000228327:S1273L	S	+	2	0	NAV3	77039919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.871000	0.98454	0.655000	0.94253	TCA		0.527	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	62	0	0	0	0.001984	0	7	62				
MGAT4C	25834	broad.mit.edu	37	12	86374139	86374139	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:86374139G>A	ENST00000604798.1	-	8	1569	c.365C>T	c.(364-366)tCa>tTa	p.S122L	MGAT4C_ENST00000549405.2_Missense_Mutation_p.S122L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.S122L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.S151L			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	122					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCAAAAATTGACTTAATTGT	0.373																																							uc001tai.3		NA																	0				ovary(3)	3						c.(364-366)TCA>TTA		alpha-1,3-mannosyl-glycoprotein							64.0	66.0	65.0					12																	86374139		2203	4299	6502	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374139G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.365C>T	12.37:g.86374139G>A	ENSP00000474896:p.Ser122Leu					MGAT4C_uc001tal.3_Missense_Mutation_p.S122L|MGAT4C_uc001taj.3_Missense_Mutation_p.S122L|MGAT4C_uc001tak.3_Missense_Mutation_p.S122L|MGAT4C_uc010sum.1_Missense_Mutation_p.S146L|MGAT4C_uc001tah.3_Missense_Mutation_p.S122L	p.S122L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	1615	-			122			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.365C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066831	0.76301	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.19	5.19	0.71726	.	0.138948	0.49305	D	0.000156	D	0.95921	0.8672	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96355	0.9261	10	0.87932	D	0	-16.4879	19.0859	0.93202	0.0:0.0:1.0:0.0	.	151;122	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	L	122;151;122;122;122;122;122	ENSP00000331664:S122L;ENSP00000376900:S151L;ENSP00000449022:S122L;ENSP00000446647:S122L;ENSP00000447253:S122L;ENSP00000449172:S122L	ENSP00000331664:S122L	S	-	2	0	MGAT4C	84898270	1.000000	0.71417	0.856000	0.33681	0.763000	0.43281	9.809000	0.99208	2.565000	0.86533	0.591000	0.81541	TCA		0.373	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		10	52	0	0	0	0.006214	0	10	52				
EPYC	1833	broad.mit.edu	37	12	91371958	91371958	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:91371958C>T	ENST00000261172.3	-	3	339	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	83	Poly-Glu.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.E83K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCTCCTCTTCCTCTTCCTGG	0.507											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001tbk.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(247-249)GAA>AAA		dermatan sulfate proteoglycan 3 precursor							108.0	109.0	108.0					12																	91371958		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91371958C>T	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.247G>A	12.37:g.91371958C>T	ENSP00000261172:p.Glu83Lys		OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282		p.E83K	NM_004950	NP_004941	Q99645	EPYC_HUMAN			3	340	-			83			Poly-Glu.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.247G>A	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	C	8.551	0.875415	0.17395	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66815	0.48;-0.23	4.4	4.4	0.53042	.	0.383609	0.32671	N	0.005791	T	0.49830	0.1580	L	0.27053	0.805	0.37563	D	0.919152	B	0.24258	0.1	B	0.21708	0.036	T	0.47573	-0.9107	10	0.06757	T	0.87	.	15.295	0.73898	0.0:1.0:0.0:0.0	.	83	Q99645	EPYC_HUMAN	K	83	ENSP00000261172:E83K;ENSP00000448272:E83K	ENSP00000261172:E83K	E	-	1	0	EPYC	89896089	0.939000	0.31865	0.923000	0.36655	0.216000	0.24613	3.324000	0.52022	2.741000	0.93983	0.555000	0.69702	GAA		0.507	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		15	117	0	0	0	0.004007	0	15	117				
CEP83	51134	broad.mit.edu	37	12	94763742	94763742	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:94763742C>G	ENST00000397809.5	-	9	1553	c.1004G>C	c.(1003-1005)aGt>aCt	p.S335T	CCDC41_ENST00000547575.1_Missense_Mutation_p.S335T|CCDC41_ENST00000339839.5_Missense_Mutation_p.S335T|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.S302T	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		327					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTCTAGCTCACTCTTAGCTCT	0.348																																							uc001tdd.2		NA																	0					0						c.(1003-1005)AGT>ACT		NY-REN-58 antigen							269.0	259.0	262.0					12																	94763742		1912	4154	6066	SO:0001583	missense	51134							g.chr12:94763742C>G																												ENST00000397809.5:c.1004G>C	12.37:g.94763742C>G	ENSP00000380911:p.Ser335Thr					CCDC41_uc001tde.2_Missense_Mutation_p.S335T|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.S335T	p.S335T	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			9	1590	-			327			Potential.		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1004G>C	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714299	0.30413	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.46819	1.97;1.97;1.97;0.86	5.24	5.24	0.73138	.	.	.	.	.	T	0.47078	0.1426	L	0.44542	1.39	0.26314	N	0.97777	D;P;P	0.55605	0.972;0.902;0.925	P;B;P	0.51550	0.673;0.342;0.54	T	0.28267	-1.0049	9	0.15066	T	0.55	-10.197	10.8126	0.46555	0.0:0.8525:0.0:0.1475	.	335;302;327	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	T	335;335;302;335	ENSP00000344655:S335T;ENSP00000380911:S335T;ENSP00000380909:S302T;ENSP00000448913:S335T	ENSP00000344655:S335T	S	-	2	0	CCDC41	93287873	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.966000	0.49208	2.607000	0.88179	0.650000	0.86243	AGT		0.348	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			23	225	0	0	0	0.003954	0	23	225				
MYBPC1	4604	broad.mit.edu	37	12	102074275	102074275	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:102074275C>A	ENST00000550270.1	+	28	3380	c.3380C>A	c.(3379-3381)aCa>aAa	p.T1127K	MYBPC1_ENST00000547405.1_Missense_Mutation_p.T1083K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T1134K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T1109K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T1096K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.T1095K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T1127K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T1127K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T1097K|MYBPC1_ENST00000549145.1_Missense_Mutation_p.T1140K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T1109K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T1010K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T1090K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T1127K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T1134K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1127	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCTTGGGACAGTGGAGATT	0.433																																							uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(3379-3381)ACA>AAA		myosin binding protein C, slow type isoform 3							92.0	86.0	88.0					12																	102074275		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102074275C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.3380C>A	12.37:g.102074275C>A	ENSP00000449702:p.Thr1127Lys					MYBPC1_uc001tig.2_Missense_Mutation_p.T1134K|MYBPC1_uc010svq.1_Missense_Mutation_p.T1096K|MYBPC1_uc001tih.2_Missense_Mutation_p.T1134K|MYBPC1_uc001tij.2_Missense_Mutation_p.T1109K|MYBPC1_uc010svr.1_Missense_Mutation_p.T1109K|MYBPC1_uc010svs.1_Missense_Mutation_p.T1127K|MYBPC1_uc010svt.1_Missense_Mutation_p.T1097K|MYBPC1_uc010svu.1_Missense_Mutation_p.T1090K|MYBPC1_uc001tik.2_Missense_Mutation_p.T1083K|MYBPC1_uc001til.2_Missense_Mutation_p.T152K|MYBPC1_uc001tim.2_Missense_Mutation_p.T152K	p.T1127K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			28	3482	+			1127			Ig-like C2-type 7.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.3380C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749617	0.15778	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.41	2.35	0.29111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.672301	0.13601	N	0.375836	T	0.56877	0.2015	L	0.31157	0.91	0.30221	N	0.796801	B;B;B;B;B;B;B;B;B;B	0.26445	0.004;0.149;0.004;0.014;0.042;0.004;0.123;0.087;0.006;0.125	B;B;B;B;B;B;B;B;B;B	0.37731	0.02;0.174;0.026;0.069;0.08;0.012;0.167;0.257;0.007;0.209	T	0.61058	-0.7139	10	0.52906	T	0.07	.	13.6774	0.62462	0.6338:0.3662:0.0:0.0	.	1090;1097;1127;1109;1096;1083;1109;1127;1134;1134	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	K	1083;1127;1127;1127;1096;1095;1134;1140;1109;1109;1090;1097;1134;1010;1127	ENSP00000448175:T1083K;ENSP00000400908:T1127K;ENSP00000388989:T1127K;ENSP00000353822:T1127K;ENSP00000376665:T1096K;ENSP00000447362:T1095K;ENSP00000354845:T1134K;ENSP00000447660:T1140K;ENSP00000447900:T1109K;ENSP00000440034:T1109K;ENSP00000446128:T1090K;ENSP00000442847:T1097K;ENSP00000354849:T1134K;ENSP00000447116:T1010K;ENSP00000449702:T1127K	ENSP00000353822:T1127K	T	+	2	0	MYBPC1	100598406	0.998000	0.40836	0.020000	0.16555	0.018000	0.09664	4.254000	0.58798	0.754000	0.32968	-1.028000	0.02416	ACA		0.433	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			49	40	1	0	1.48341e-19	0.00361	1.88065e-19	49	40				
FOXN4	121643	broad.mit.edu	37	12	109723185	109723185	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:109723185G>C	ENST00000299162.5	-	8	929	c.825C>G	c.(823-825)atC>atG	p.I275M	FOXN4_ENST00000355216.1_Missense_Mutation_p.I95M	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	275					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CCATCTTGTCGATGCGGGCCA	0.612																																							uc001toe.3		NA																	0				ovary(1)|lung(1)	2						c.(823-825)ATC>ATG		forkhead box N4							84.0	67.0	72.0					12																	109723185		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723185G>C	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.825C>G	12.37:g.109723185G>C	ENSP00000299162:p.Ile275Met					FOXN4_uc009zvg.2_Missense_Mutation_p.I72M|FOXN4_uc001tof.3_Missense_Mutation_p.I95M	p.I275M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	930	-			275			Fork-head.		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.825C>G	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.094|8.094	0.775166|0.775166	0.16051|0.16051	.|.	.|.	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95554|.	-3.74;-3.74|.	4.71|4.71	0.839|0.839	0.18907|0.18907	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62221|0.62221	0.2410|0.2410	M|M	0.64080|0.64080	1.96|1.96	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.988|.	T|T	0.61317|0.61317	-0.7087|-0.7087	10|6	0.35671|0.87932	T|D	0.21|0	-18.0698|-18.0698	9.1595|9.1595	0.37014|0.37014	0.4636:0.0:0.5364:0.0|0.4636:0.0:0.5364:0.0	.|.	275;275|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	M|G	95;275|234	ENSP00000347354:I95M;ENSP00000299162:I275M|.	ENSP00000299162:I275M|ENSP00000266856:R234G	I|R	-|-	3|1	3|2	FOXN4|FOXN4	108207568|108207568	0.282000|0.282000	0.24268|0.24268	0.997000|0.997000	0.53966|0.53966	0.873000|0.873000	0.50193|0.50193	-0.242000|-0.242000	0.08928|0.08928	-0.047000|-0.047000	0.13423|0.13423	-1.092000|-1.092000	0.02172|0.02172	ATC|CGA		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		10	37	0	0	0	0.006214	0	10	37				
MYL2	4633	broad.mit.edu	37	12	111353570	111353570	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:111353570T>A	ENST00000228841.8	-	3	165	c.118A>T	c.(118-120)Agg>Tgg	p.R40W	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AAGCCATCCCTGTTCTGGTCC	0.522																																					GBM(14;268 426 18829 21617 25540)	GBM(14;268 426 18829 21617 25540)	uc001try.3		NA																	0				ovary(1)	1						c.(118-120)AGG>TGG		slow cardiac myosin regulatory light chain 2							231.0	198.0	209.0					12																	111353570		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111353570T>A		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.118A>T	12.37:g.111353570T>A	ENSP00000228841:p.Arg40Trp					MYL2_uc001trx.3_Missense_Mutation_p.R21W	p.R40W	NM_000432	NP_000423	P10916	MLRV_HUMAN			3	189	-			40			|EF-hand 1.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.118A>T	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120096	0.77323	.	.	ENSG00000111245	ENST00000228841;ENST00000550439	T	0.64803	-0.12	5.06	2.7	0.31948	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	H	0.97240	3.965	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.87214	0.2249	10	0.87932	D	0	.	11.1091	0.48221	0.0:0.0:0.5925:0.4075	.	40	P10916	MLRV_HUMAN	W	40;21	ENSP00000228841:R40W	ENSP00000228841:R40W	R	-	1	2	MYL2	109837953	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.134000	0.50538	0.742000	0.32697	0.459000	0.35465	AGG		0.522	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		121	79	0	0	0	0.00361	0	121	79				
CUX2	23316	broad.mit.edu	37	12	111779639	111779639	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:111779639G>T	ENST00000261726.6	+	21	3595	c.3441G>T	c.(3439-3441)ccG>ccT	p.P1147P	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1147					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGAGTCCCCGGCCACCCGCT	0.667																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3439-3441)CCG>CCT		cut-like 2							53.0	60.0	58.0					12																	111779639		2039	4182	6221	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111779639G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3441G>T	12.37:g.111779639G>T							p.P1147P	NM_015267	NP_056082	O14529	CUX2_HUMAN			21	3594	+			1147					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3441G>T	CCDS41837.1																																																																																				0.667	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		69	36	1	0	3.07281e-33	0.00361	4.37062e-33	69	36				
PTPN11	5781	broad.mit.edu	37	12	112888228	112888228	+	Missense_Mutation	SNP	A	A	G	rs397507515		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:112888228A>G	ENST00000351677.2	+	3	442	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	PTPN11_ENST00000392597.1_Missense_Mutation_p.M82V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	82	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGTATTACATGGAACATCA	0.428			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																														uc001ttx.2		NA		Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		0				haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						c.(244-246)ATG>GTG		protein tyrosine phosphatase, non-receptor type							147.0	135.0	139.0					12																	112888228		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888228A>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.244A>G	12.37:g.112888228A>G	ENSP00000340944:p.Met82Val					PTPN11_uc001ttw.1_Missense_Mutation_p.M82V	p.M82V	NM_002834	NP_002825	Q06124	PTN11_HUMAN			3	624	+			82			SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.244A>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304377	0.40795	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96136	-3.92;-3.92	5.9	5.9	0.94986	.	0.038194	0.85682	D	0.000000	D	0.90978	0.7163	N	0.25245	0.725	0.80722	D	1	B;B	0.21905	0.062;0.011	B;B	0.12156	0.007;0.007	D	0.87473	0.2415	10	0.24483	T	0.36	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	82;82	Q06124-2;Q06124-3	.;.	V	82	ENSP00000376376:M82V;ENSP00000340944:M82V	ENSP00000340944:M82V	M	+	1	0	PTPN11	111372611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	2.257000	0.74773	0.528000	0.53228	ATG		0.428	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			78	54	0	0	0	0.00361	0	78	54				
RIMBP2	23504	broad.mit.edu	37	12	130926751	130926751	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:130926751G>T	ENST00000261655.4	-	8	1258	c.1095C>A	c.(1093-1095)cgC>cgA	p.R365R	RIMBP2_ENST00000535703.1_Silent_p.R273R|RIMBP2_ENST00000536002.1_Silent_p.R273R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	365	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGAGATGCGGTAGGTGC	0.632																																							uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1093-1095)CGC>CGA		RIM-binding protein 2							153.0	146.0	148.0					12																	130926751		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926751G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1095C>A	12.37:g.130926751G>T						RIMBP2_uc001uim.2_Silent_p.R273R|RIMBP2_uc001uin.1_Silent_p.R24R	p.R365R	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1259	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	365			Fibronectin type-III 1.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1095C>A	CCDS31925.1																																																																																				0.632	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		66	23	1	0	4.45325e-31	0.00361	6.22566e-31	66	23				
POLE	5426	broad.mit.edu	37	12	133208909	133208909	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:133208909C>A	ENST00000320574.5	-	45	6365	c.6322G>T	c.(6322-6324)Gtg>Ttg	p.V2108L	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.V2081L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2108					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACCTTGCACACGTATTTGATG	0.532								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6322-6324)GTG>TTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							89.0	72.0	78.0					12																	133208909		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133208909C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6322G>T	12.37:g.133208909C>A	ENSP00000322570:p.Val2108Leu					POLE_uc001ukq.1_Missense_Mutation_p.V318L|POLE_uc001ukr.1_Missense_Mutation_p.V912L|POLE_uc010tbq.1_RNA	p.V2108L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	45	6366	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2108					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6322G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322525	0.60634	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.18810	2.19;2.19;2.19	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.37697	1.125	0.80722	D	1	B;P	0.45827	0.205;0.867	B;B	0.41946	0.09;0.371	T	0.01413	-1.1361	10	0.40728	T	0.16	.	18.5666	0.91119	0.0:1.0:0.0:0.0	.	2108;318	Q07864;B3KS74	DPOE1_HUMAN;.	L	318;2108;2119;23;2081	ENSP00000322570:V2108L;ENSP00000406383:V2119L;ENSP00000445753:V2081L	ENSP00000322473:V23L	V	-	1	0	POLE	131718982	1.000000	0.71417	0.950000	0.38849	0.976000	0.68499	7.665000	0.83852	2.383000	0.81215	0.484000	0.47621	GTG		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		42	23	1	0	1.07121e-22	0.006999	1.411e-22	42	23				
MIPEP	4285	broad.mit.edu	37	13	24415543	24415543	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:24415543C>A	ENST00000382172.3	-	11	1289	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	397					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAATCCCCAACAGTCTGTTAA	0.473																																							uc001uox.3		NA																	0				central_nervous_system(1)	1						c.(1189-1191)CTG>CTT		mitochondrial intermediate peptidase precursor							109.0	99.0	102.0					13																	24415543		2203	4300	6503	SO:0001819	synonymous_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24415543C>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1191G>T	13.37:g.24415543C>A							p.L397L	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	11	1291	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	397					Q5JV15|Q5T9Q9|Q96G65	Silent	SNP	ENST00000382172.3	37	c.1191G>T	CCDS9303.1																																																																																				0.473	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			19	28	1	0	1.64113e-05	0.010504	1.71828e-05	19	28				
ATP8A2	51761	broad.mit.edu	37	13	26116178	26116178	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:26116178G>A	ENST00000381655.2	+	9	915	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G218E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	218					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AACTTAGATGGGAAAAGGTAT	0.363																																							uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(772-774)GGG>GAG		ATPase, aminophospholipid transporter-like,							84.0	81.0	82.0					13																	26116178		1852	4086	5938	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26116178G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.773G>A	13.37:g.26116178G>A	ENSP00000371070:p.Gly258Glu					ATP8A2_uc010tdi.1_Missense_Mutation_p.G218E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.G218E	p.G258E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	9	915	+		Breast(139;0.0201)|Lung SC(185;0.0225)	218			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.773G>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.275038	0.40194	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.73789	-0.78;-0.78	5.24	5.24	0.73138	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.407819	0.29073	N	0.013238	T	0.66771	0.2823	L	0.33339	1.005	0.48040	D	0.99957	B;B;B	0.29671	0.02;0.254;0.02	B;B;B	0.32022	0.049;0.139;0.072	T	0.67248	-0.5718	10	0.54805	T	0.06	.	14.7585	0.69588	0.0:0.1444:0.8556:0.0	.	218;218;218	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	E	258;218;38	ENSP00000371070:G258E;ENSP00000255283:G218E	ENSP00000255283:G218E	G	+	2	0	ATP8A2	25014178	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.687000	0.54692	2.610000	0.88304	0.448000	0.29417	GGG		0.363	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		15	32	0	0	0	0.00499	0	15	32				
MEDAG	84935	broad.mit.edu	37	13	31495911	31495911	+	Silent	SNP	C	C	T	rs138341583		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:31495911C>T	ENST00000380482.4	+	4	1040	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	239					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											TAAGTTATTTCTGGAAAAAAT	0.373																																							uc001uth.3		NA																	0					0						c.(715-717)CTG>TTG		hypothetical protein LOC84935							57.0	58.0	57.0					13																	31495911		2203	4300	6503	SO:0001819	synonymous_variant	84935							g.chr13:31495911C>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.715C>T	13.37:g.31495911C>T						uc001utg.1_Intron	p.L239L	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)	4	1056	+		Lung SC(185;0.0281)	239					Q8IXF1|Q96K26|Q96NC8	Silent	SNP	ENST00000380482.4	37	c.715C>T	CCDS9338.1																																																																																				0.373	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		17	59	0	0	0	0.007413	0	17	59				
FRY	10129	broad.mit.edu	37	13	32811588	32811588	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:32811588G>A	ENST00000380250.3	+	44	6379	c.5883G>A	c.(5881-5883)atG>atA	p.M1961I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1961						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACTAAACATGAACCCGGGAA	0.478																																							uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(5881-5883)ATG>ATA		furry homolog							64.0	71.0	69.0					13																	32811588		1985	4181	6166	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32811588G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5883G>A	13.37:g.32811588G>A	ENSP00000369600:p.Met1961Ile					FRY_uc010tdw.1_RNA	p.M1961I	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6379	+		Lung SC(185;0.0271)	1961					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5883G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186023	0.09495	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.21191	2.02	6.17	4.43	0.53597	.	0.134260	0.51477	D	0.000088	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18085	-1.0348	10	0.14656	T	0.56	.	8.1943	0.31387	0.1309:0.2512:0.6179:0.0	.	1961	Q5TBA9	FRY_HUMAN	I	1961;798	ENSP00000369600:M1961I	ENSP00000369600:M1961I	M	+	3	0	FRY	31709588	1.000000	0.71417	0.992000	0.48379	0.122000	0.20287	1.262000	0.32992	0.909000	0.36697	0.655000	0.94253	ATG		0.478	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	112	0	0	0	0.001168	0	5	112				
NBEA	26960	broad.mit.edu	37	13	35683448	35683448	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:35683448A>G	ENST00000400445.3	+	12	2236	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	NBEA_ENST00000310336.4_Missense_Mutation_p.R568G|NBEA_ENST00000540320.1_Missense_Mutation_p.R568G|NBEA_ENST00000379939.2_Missense_Mutation_p.R568G	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	568					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCATATAACTAGAGCTGTCCT	0.328																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(1702-1704)AGA>GGA		neurobeachin							79.0	73.0	75.0					13																	35683448		1818	4069	5887	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35683448A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1702A>G	13.37:g.35683448A>G	ENSP00000383295:p.Arg568Gly						p.R568G	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	13	1908	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	568					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1702A>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822365	0.50739	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.62501	-0.6841	10	0.26408	T	0.33	.	14.5834	0.68308	1.0:0.0:0.0:0.0	.	568	Q5T321	.	G	568	ENSP00000440951:R568G;ENSP00000383295:R568G;ENSP00000369271:R568G;ENSP00000308534:R568G	ENSP00000308534:R568G	R	+	1	2	NBEA	34581448	0.991000	0.36638	1.000000	0.80357	0.739000	0.42172	1.182000	0.32029	1.854000	0.53819	0.383000	0.25322	AGA		0.328	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		31	123	0	0	0	0.003271	0	31	123				
EPSTI1	94240	broad.mit.edu	37	13	43469156	43469156	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:43469156C>T	ENST00000398762.3	-	11	936	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	EPSTI1_ENST00000313624.7_Missense_Mutation_p.G302S|EPSTI1_ENST00000313640.7_Missense_Mutation_p.G313S			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	313										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CAGCTGTTACCGCTATTCATA	0.378																																							uc001uyw.1		NA																	0				ovary(1)	1						c.(937-939)GGT>AGT		epithelial stromal interaction 1 isoform 1							55.0	56.0	56.0					13																	43469156		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43469156C>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.937G>A	13.37:g.43469156C>T	ENSP00000381746:p.Gly313Ser					EPSTI1_uc001uyx.1_Missense_Mutation_p.G302S	p.G313S	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	11	1013	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	313					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.937G>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.802029	0.31869	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.18960	2.18	5.41	0.494	0.16884	.	0.561306	0.17670	N	0.165986	T	0.11153	0.0272	L	0.27053	0.805	0.09310	N	1	B;B	0.28636	0.098;0.218	B;B	0.21151	0.021;0.033	T	0.18555	-1.0333	10	0.39692	T	0.17	-0.0015	5.4793	0.16715	0.0:0.4997:0.2665:0.2338	.	302;313	Q96J88-2;Q96J88-3	.;.	S	313;302;313	ENSP00000318982:G313S	ENSP00000318643:G302S	G	-	1	0	EPSTI1	42367156	0.000000	0.05858	0.109000	0.21407	0.936000	0.57629	-0.292000	0.08332	-0.162000	0.10964	-0.254000	0.11334	GGT		0.378	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		19	75	0	0	0	0.010504	0	19	75				
LACC1	144811	broad.mit.edu	37	13	44455682	44455682	+	Splice_Site	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:44455682A>T	ENST00000441843.1	+	2	1046	c.561A>T	c.(559-561)ccA>ccT	p.P187P	CCDC122_ENST00000444614.3_5'Flank|LACC1_ENST00000325686.6_Splice_Site_p.P187P|CCDC122_ENST00000476570.2_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	187																	CTTTGATCCCAGGTATATTAA	0.343																																							uc010acg.2		NA																	0					0						c.(559-561)CCA>CCT		hypothetical protein LOC144811							46.0	49.0	48.0					13																	44455682		2132	4266	6398	SO:0001630	splice_region_variant	144811							g.chr13:44455682A>T	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.562+1A>T	13.37:g.44455682A>T						CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Silent_p.P187P	p.P187P	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)	2	1046	+		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)	187					A2A3Z6|Q8N8X5	Silent	SNP	ENST00000441843.1	37	c.561A>T	CCDS9391.1																																																																																				0.343	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218	Silent	23	56	0	0	0	0.002299	0	23	56				
NUFIP1	26747	broad.mit.edu	37	13	45517783	45517783	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:45517783C>T	ENST00000379161.4	-	9	1211	c.1165G>A	c.(1165-1167)Gtt>Att	p.V389I		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	389					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTGCCAAAACGTCTGCTTCA	0.368																																							uc001uzp.2		NA																	0					0						c.(1165-1167)GTT>ATT		nuclear fragile X mental retardation protein							77.0	79.0	78.0					13																	45517783		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45517783C>T	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1165G>A	13.37:g.45517783C>T	ENSP00000368459:p.Val389Ile						p.V389I	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	9	1207	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	389					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1165G>A	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	5.399	0.258855	0.10239	.	.	ENSG00000083635	ENST00000379161	T	0.47177	0.85	5.97	-10.0	0.00425	.	1.479880	0.03264	N	0.183660	T	0.22399	0.0540	N	0.11756	0.17	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08868	-1.0701	10	0.34782	T	0.22	.	4.4165	0.11459	0.1635:0.2066:0.0813:0.5487	.	389	Q9UHK0	NUFP1_HUMAN	I	389	ENSP00000368459:V389I	ENSP00000368459:V389I	V	-	1	0	NUFIP1	44415783	0.000000	0.05858	0.031000	0.17742	0.642000	0.38348	-1.391000	0.02525	-1.725000	0.01371	-0.414000	0.06135	GTT		0.368	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		9	154	0	0	0	0.008291	0	9	154				
ARL11	115761	broad.mit.edu	37	13	50204848	50204848	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:50204848G>A	ENST00000282026.1	+	2	600	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	89					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GTACGTGCTGGACAGCACAGA	0.612																																							uc001vdf.1		NA																	0					0						c.(265-267)GAC>AAC		ADP-ribosylation factor-like 11							85.0	85.0	85.0					13																	50204848		2203	4300	6503	SO:0001583	missense	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204848G>A	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.265G>A	13.37:g.50204848G>A	ENSP00000282026:p.Asp89Asn						p.D89N	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	411	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	89						Missense_Mutation	SNP	ENST00000282026.1	37	c.265G>A	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426009	0.83667	.	.	ENSG00000152213	ENST00000282026	T	0.79653	-1.29	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93733	0.7997	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95754	0.8794	10	0.87932	D	0	-10.5375	18.2104	0.89868	0.0:0.0:1.0:0.0	.	89	Q969Q4	ARL11_HUMAN	N	89	ENSP00000282026:D89N	ENSP00000282026:D89N	D	+	1	0	ARL11	49102849	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	9.420000	0.97426	2.538000	0.85594	0.655000	0.94253	GAC		0.612	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		8	241	0	0	0	0.006214	0	8	241				
PCDH17	27253	broad.mit.edu	37	13	58298763	58298763	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:58298763A>G	ENST00000377918.3	+	4	2841	c.2815A>G	c.(2815-2817)Aat>Gat	p.N939D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	939					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGTGTGTTAATTGCACAGA	0.428																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2815-2817)AAT>GAT		protocadherin 17 precursor							53.0	53.0	53.0					13																	58298763		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298763A>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2815A>G	13.37:g.58298763A>G	ENSP00000367151:p.Asn939Asp					PCDH17_uc010aec.1_Missense_Mutation_p.N938D|PCDH17_uc001vhr.1_Missense_Mutation_p.N28D	p.N939D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3707	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	939			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2815A>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.875829	0.51695	.	.	ENSG00000118946	ENST00000377918	T	0.53857	0.6	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.48642	1.525	0.49051	D	0.999744	P	0.42871	0.792	B	0.42138	0.377	T	0.47535	-0.9110	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	939	O14917	PCD17_HUMAN	D	939	ENSP00000367151:N939D	.	N	+	1	0	PCDH17	57196764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.884000	0.69729	2.326000	0.78906	0.533000	0.62120	AAT		0.428	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		19	81	0	0	0	0.002299	0	19	81				
PCDH9	5101	broad.mit.edu	37	13	66879088	66879088	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:66879088T>G	ENST00000377865.2	-	4	3547	c.3413A>C	c.(3412-3414)cAc>cCc	p.H1138P	PCDH9_ENST00000456367.1_Missense_Mutation_p.H1104P|PCDH9_ENST00000544246.1_Missense_Mutation_p.H1138P|PCDH9_ENST00000328454.5_Missense_Mutation_p.H1104P|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1138					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATTATCAGAGTGACCCAAAAC	0.493																																							uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(3412-3414)CAC>CCC		protocadherin 9 isoform 1 precursor							90.0	79.0	83.0					13																	66879088		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879088T>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3413A>C	13.37:g.66879088T>G	ENSP00000367096:p.His1138Pro					PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.H1104P|PCDH9_uc010thl.1_Missense_Mutation_p.H1096P	p.H1138P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4105	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1138			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3413A>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171338	0.78452	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	D;D;D;D	0.93906	-3.31;-3.31;-3.16;-3.16	6.07	6.07	0.98685	.	0.000000	0.51477	D	0.000086	D	0.94009	0.8081	M	0.65677	2.01	0.49582	D	0.999807	P;D;P	0.53745	0.949;0.962;0.949	P;P;P	0.48304	0.449;0.573;0.449	D	0.94506	0.7714	10	0.87932	D	0	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	1096;1104;1138	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	P	1138;1138;1104;1104	ENSP00000442186:H1138P;ENSP00000367096:H1138P;ENSP00000401699:H1104P;ENSP00000332060:H1104P	ENSP00000332060:H1104P	H	-	2	0	PCDH9	65777089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.330000	0.79161	0.528000	0.53228	CAC		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		45	118	0	0	0	0.010771	0	45	118				
MYCBP2	23077	broad.mit.edu	37	13	77713445	77713445	+	Silent	SNP	C	C	T	rs375236072		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:77713445C>T	ENST00000544440.2	-	52	7448	c.7431G>A	c.(7429-7431)ctG>ctA	p.L2477L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.L2515L|MYCBP2_ENST00000357337.6_Silent_p.L2477L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATTCAGCCTCAGCCACACAC	0.428																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7429-7431)CTG>CTA		MYC binding protein 2		C		1,4405	2.1+/-5.4	0,1,2202	184.0	160.0	168.0		7545	3.6	1.0	13		168	0,8600		0,0,4300	no	coding-synonymous	MYCBP2	NM_015057.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2515/4679	77713445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77713445C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7431G>A	13.37:g.77713445C>T						MYCBP2_uc010aev.2_Silent_p.L1881L	p.L2477L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	53	7522	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2477						Silent	SNP	ENST00000544440.2	37	c.7431G>A																																																																																					0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		26	177	0	0	0	0.004656	0	26	177				
CLDN10	9071	broad.mit.edu	37	13	96205172	96205172	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:96205172C>T	ENST00000299339.2	+	1	194	c.165C>T	c.(163-165)acC>acT	p.T55T	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	55					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CGTGCGTTACCGACTCCACGG	0.647																																							uc001vmh.2		NA																	0				ovary(1)	1						c.(163-165)ACC>ACT		claudin 10 isoform b							99.0	86.0	90.0					13																	96205172		2203	4300	6503	SO:0001819	synonymous_variant	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96205172C>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.165C>T	13.37:g.96205172C>T						CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	p.T55T	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	226	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		55			Extracellular (Potential).		Q6IBF9|Q96N78	Silent	SNP	ENST00000299339.2	37	c.165C>T	CCDS9476.1																																																																																				0.647	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		5	112	0	0	0	0.001168	0	5	112				
DOCK9	23348	broad.mit.edu	37	13	99534165	99534165	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:99534165C>A	ENST00000376460.1	-	24	2736	c.2656G>T	c.(2656-2658)Gtc>Ttc	p.V886F	DOCK9_ENST00000339416.2_Missense_Mutation_p.V887F|DOCK9_ENST00000448493.2_Missense_Mutation_p.V898F|DOCK9_ENST00000442173.1_Missense_Mutation_p.V886F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	887					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAACCGCGACTTCTTCCTGT	0.532																																							uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(2659-2661)GTC>TTC		dedicator of cytokinesis 9 isoform a							107.0	108.0	108.0					13																	99534165		2154	4251	6405	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99534165C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2656G>T	13.37:g.99534165C>A	ENSP00000365643:p.Val886Phe					DOCK9_uc001vnw.2_Missense_Mutation_p.V886F|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V887F|DOCK9_uc010tis.1_Missense_Mutation_p.V886F|DOCK9_uc010tit.1_Missense_Mutation_p.V887F|DOCK9_uc010afu.1_Missense_Mutation_p.V733F	p.V887F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			24	2714	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		887					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.2659G>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813552	0.90790	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.72394	-0.65;-0.65;-0.09;1.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84488	0.5483	M	0.80847	2.515	0.80722	D	1	P;D;B;P;D	0.63046	0.483;0.988;0.344;0.886;0.992	B;P;B;P;P	0.61940	0.178;0.873;0.18;0.896;0.866	D	0.86093	0.1551	10	0.87932	D	0	.	19.7174	0.96129	0.0:1.0:0.0:0.0	.	887;886;886;886;887	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	F	886;887;887;887;886;887;898;886	ENSP00000365643:V886F;ENSP00000341086:V887F;ENSP00000401958:V898F;ENSP00000406883:V886F	ENSP00000341086:V887F	V	-	1	0	DOCK9	98332166	1.000000	0.71417	0.712000	0.30502	0.870000	0.49936	7.469000	0.80959	2.653000	0.90120	0.655000	0.94253	GTC		0.532	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		5	18	1	0	1.23904e-05	0.000602	1.30146e-05	5	18				
NALCN	259232	broad.mit.edu	37	13	101997749	101997749	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:101997749C>A	ENST00000251127.6	-	7	748	c.667G>T	c.(667-669)Gct>Tct	p.A223S	NALCN_ENST00000376196.3_Missense_Mutation_p.A223S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGAATAGCTAAACTATTC	0.398																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(667-669)GCT>TCT		voltage gated channel like 1							126.0	111.0	116.0					13																	101997749		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997749C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.667G>T	13.37:g.101997749C>A	ENSP00000251127:p.Ala223Ser					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.A223S|NALCN_uc001vpa.2_Missense_Mutation_p.A223S	p.A223S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			7	856	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		223			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.667G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278121	0.80692	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98493	-4.59;-4.96	5.75	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.70842	2.15	0.80722	D	1	D;P	0.58970	0.984;0.619	D;B	0.63381	0.914;0.445	D	0.97907	1.0306	10	0.37606	T	0.19	.	15.1904	0.73038	0.0:0.9315:0.0:0.0685	.	223;223	F2Z323;Q8IZF0	.;NALCN_HUMAN	S	223	ENSP00000251127:A223S;ENSP00000365367:A223S	ENSP00000251127:A223S	A	-	1	0	NALCN	100795750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.701000	0.92244	0.650000	0.86243	GCT		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		54	129	1	0	5.57489e-27	0.00361	7.63044e-27	54	129				
COL4A2	1284	broad.mit.edu	37	13	111077165	111077165	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:111077165G>A	ENST00000360467.5	+	5	571	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	89					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACGTAAAGGAGACAAGGGTGA	0.622																																							uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(265-267)GAC>AAC		alpha 2 type IV collagen preproprotein							86.0	97.0	93.0					13																	111077165		1934	4133	6067	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077165G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.265G>A	13.37:g.111077165G>A	ENSP00000353654:p.Asp89Asn						p.D89N	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		5	554	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	89					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.265G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583138	0.46006	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.94184	-3.37;-1.66	5.08	5.08	0.68730	.	0.118294	0.37178	N	0.002202	D	0.93726	0.7995	L	0.38838	1.175	0.34679	D	0.72446	D	0.64830	0.994	D	0.64042	0.921	D	0.94397	0.7619	10	0.27785	T	0.31	.	15.2105	0.73219	0.0:0.151:0.849:0.0	.	89	P08572	CO4A2_HUMAN	N	89	ENSP00000383027:D89N;ENSP00000353654:D89N	ENSP00000257309:D89N	D	+	1	0	COL4A2	109875166	1.000000	0.71417	0.991000	0.47740	0.676000	0.39594	4.572000	0.60886	2.395000	0.81488	0.650000	0.86243	GAC		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		48	187	0	0	0	0.00361	0	48	187				
ARHGEF7	8874	broad.mit.edu	37	13	111862229	111862229	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:111862229G>T	ENST00000375741.2	+	5	661	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000317133.5_Silent_p.L116L|ARHGEF7_ENST00000375739.2_Silent_p.L87L|ARHGEF7_ENST00000375737.5_Silent_p.L34L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	137					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATCGGGCTGGGGAGTGACT	0.527																																							uc001vrs.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(409-411)CTG>CTT		PAK-interacting exchange factor beta isoform c							230.0	231.0	231.0					13																	111862229		2203	4300	6503	SO:0001819	synonymous_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862229G>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.411G>T	13.37:g.111862229G>T						ARHGEF7_uc001vrr.2_Silent_p.L116L|ARHGEF7_uc001vrt.2_Silent_p.L87L|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_5'UTR|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_5'UTR|ARHGEF7_uc001vrx.3_5'UTR|ARHGEF7_uc010tjo.1_Silent_p.L34L	p.L137L	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	661	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		137					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	c.411G>T	CCDS45068.1																																																																																				0.527	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		201	452	1	0	8.86189e-83	0.00361	1.39625e-82	201	452				
ADPRHL1	113622	broad.mit.edu	37	13	114077292	114077292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:114077292C>A	ENST00000375418.3	-	7	996	c.910G>T	c.(910-912)Gag>Tag	p.E304*	ADPRHL1_ENST00000356501.4_Nonsense_Mutation_p.E222*	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	304					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCCGCGCTCTCCCCTGAAACG	0.642																																							uc001vtq.1		NA																	0					0						c.(910-912)GAG>TAG		ADP-ribosylhydrolase like 1 isoform 1							62.0	57.0	59.0					13																	114077292		2203	4293	6496	SO:0001587	stop_gained	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114077292C>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.910G>T	13.37:g.114077292C>A	ENSP00000364567:p.Glu304*					ADPRHL1_uc001vtp.1_Nonsense_Mutation_p.E222*	p.E304*	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		7	997	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	304					Q5JUG2|Q96GD1	Nonsense_Mutation	SNP	ENST00000375418.3	37	c.910G>T	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.901374	0.72754	.	.	ENSG00000153531	ENST00000356501;ENST00000375418	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.8832	18.2188	0.89895	0.0:1.0:0.0:0.0	.	.	.	.	X	222;304	.	ENSP00000348894:E222X	E	-	1	0	ADPRHL1	113125293	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.124000	0.77185	2.290000	0.77057	0.556000	0.70494	GAG		0.642	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		52	100	1	0	9.16383e-17	0.00361	1.13248e-16	52	100				
RASA3	22821	broad.mit.edu	37	13	114782760	114782760	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:114782760C>A	ENST00000334062.7	-	12	1280	c.1159G>T	c.(1159-1161)Gcg>Tcg	p.A387S	RASA3_ENST00000542651.1_3'UTR|RASA3_ENST00000389544.4_Missense_Mutation_p.A355S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	387	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGCATCCCCGCCAGCTTCATG	0.612											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.(1159-1161)GCG>TCG		RAS p21 protein activator 3							200.0	147.0	165.0					13																	114782760		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114782760C>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1159G>T	13.37:g.114782760C>A	ENSP00000335029:p.Ala387Ser		OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1460	RASA3_uc010tkk.1_Missense_Mutation_p.A355S|RASA3_uc001vuj.2_Missense_Mutation_p.A4S|RASA3_uc010tkl.1_RNA	p.A387S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		12	1290	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	387			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1159G>T	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613027	0.66672	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.17054	2.3;2.3	4.86	4.86	0.63082	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.39514	1.22	0.80722	D	1	P	0.48294	0.908	P	0.56343	0.796	T	0.00961	-1.1499	9	.	.	.	.	16.7723	0.85541	0.0:1.0:0.0:0.0	.	387	Q14644	RASA3_HUMAN	S	387;355	ENSP00000335029:A387S;ENSP00000374195:A355S	.	A	-	1	0	RASA3	113800862	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	4.953000	0.63624	2.232000	0.73038	0.655000	0.94253	GCG		0.612	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		63	178	1	0	3.28615e-30	0.00361	4.58098e-30	63	178				
OR4Q3	441669	broad.mit.edu	37	14	20216521	20216521	+	Missense_Mutation	SNP	C	C	A	rs202062074	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20216521C>A	ENST00000331723.1	+	1	935	c.935C>A	c.(934-936)cCt>cAt	p.P312H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCCATTGCCTTGTTAAGGA	0.393																																							uc010tkt.1		NA																	0				breast(3)	3						c.(934-936)CCT>CAT		olfactory receptor, family 4, subfamily Q,							62.0	59.0	60.0					14																	20216521		2203	4297	6500	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216521C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.935C>A	14.37:g.20216521C>A	ENSP00000330049:p.Pro312His						p.P312H	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	935	+	all_cancers(95;0.00108)		312			Cytoplasmic (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.935C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	5.902	0.350464	0.11182	.	.	ENSG00000182652	ENST00000331723	T	0.05447	3.44	3.7	-1.01	0.10169	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.34038	0.174	T	0.43196	-0.9406	9	0.87932	D	0	.	6.9029	0.24293	0.0:0.3995:0.0:0.6005	.	312	Q8NH05	OR4Q3_HUMAN	H	312	ENSP00000330049:P312H	ENSP00000330049:P312H	P	+	2	0	OR4Q3	19286361	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.286000	0.01152	-0.163000	0.10946	-1.318000	0.01297	CCT		0.393	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			26	33	1	0	4.7796e-09	0.004656	5.29866e-09	26	33				
OR4K2	390431	broad.mit.edu	37	14	20344728	20344728	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20344728T>C	ENST00000298642.2	+	1	338	c.302T>C	c.(301-303)aTa>aCa	p.I101T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTACCCAGATATTCTTTCTC	0.418																																							uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(301-303)ATA>ACA		olfactory receptor, family 4, subfamily K,							196.0	202.0	200.0					14																	20344728		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344728T>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.302T>C	14.37:g.20344728T>C	ENSP00000298642:p.Ile101Thr						p.I101T	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	302	+	all_cancers(95;0.00108)		101			Helical; Name=3; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.302T>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	15.39	2.818861	0.50633	.	.	ENSG00000165762	ENST00000298642	T	0.00500	6.96	5.12	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.113799	0.39210	N	0.001433	T	0.01254	0.0041	M	0.67397	2.05	0.30056	N	0.811294	D	0.63880	0.993	D	0.67382	0.951	T	0.22977	-1.0201	10	0.66056	D	0.02	.	8.8544	0.35219	0.0:0.0888:0.0:0.9112	.	101	Q8NGD2	OR4K2_HUMAN	T	101	ENSP00000298642:I101T	ENSP00000298642:I101T	I	+	2	0	OR4K2	19414568	0.000000	0.05858	0.999000	0.59377	0.955000	0.61496	0.739000	0.26173	0.979000	0.38497	0.460000	0.39030	ATA		0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			92	190	0	0	0	0.00361	0	92	190				
OR4K17	390436	broad.mit.edu	37	14	20585657	20585657	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20585657C>A	ENST00000315543.4	+	1	92	c.92C>A	c.(91-93)gCc>gAc	p.A31D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGGATGGAGGCCATGAAACTA	0.418																																							uc001vwo.1		NA																	0				skin(3)	3						c.(91-93)GCC>GAC		olfactory receptor, family 4, subfamily K,							164.0	151.0	156.0					14																	20585657		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585657C>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.92C>A	14.37:g.20585657C>A	ENSP00000319197:p.Ala31Asp						p.A31D	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	92	+	all_cancers(95;0.00108)		3			Extracellular (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.92C>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	1.398	-0.578859	0.03854	.	.	ENSG00000176230	ENST00000315543	T	0.06687	3.27	2.3	-0.69	0.11309	.	.	.	.	.	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	P	0.36465	0.554	B	0.32465	0.146	T	0.43147	-0.9409	9	0.30854	T	0.27	.	4.9874	0.14196	0.0:0.4922:0.0:0.5078	.	3	Q8NGC6	OR4KH_HUMAN	D	31	ENSP00000319197:A31D	ENSP00000319197:A31D	A	+	2	0	OR4K17	19655497	0.004000	0.15560	0.001000	0.08648	0.514000	0.34195	-0.129000	0.10515	-0.202000	0.10268	0.404000	0.27445	GCC		0.418	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			51	137	1	0	5.85753e-14	0.00361	6.93283e-14	51	137				
LRRC16B	90668	broad.mit.edu	37	14	24534852	24534852	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:24534852G>C	ENST00000342740.5	+	34	3572	c.3418G>C	c.(3418-3420)Ggg>Cgg	p.G1140R	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1140						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTCAGAGCCAGGGGAGGGGGG	0.607																																							uc001wlj.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3418-3420)GGG>CGG		leucine rich repeat containing 16B							70.0	78.0	75.0					14																	24534852		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24534852G>C	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3418G>C	14.37:g.24534852G>C	ENSP00000340467:p.Gly1140Arg					LRRC16B_uc001wlk.2_Intron	p.G1140R	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	34	3575	+			1140					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3418G>C	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014002	0.35511	.	.	ENSG00000186648	ENST00000342740	T	0.17528	2.27	5.4	3.55	0.40652	.	0.138885	0.33631	N	0.004707	T	0.10035	0.0246	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14227	-1.0480	10	0.40728	T	0.16	-13.569	6.7363	0.23411	0.0908:0.0:0.7338:0.1754	.	1140	Q8ND23	LR16B_HUMAN	R	1140	ENSP00000340467:G1140R	ENSP00000340467:G1140R	G	+	1	0	LRRC16B	23604692	1.000000	0.71417	0.496000	0.27539	0.726000	0.41606	2.502000	0.45398	0.627000	0.30340	0.655000	0.94253	GGG		0.607	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		93	68	0	0	0	0.00361	0	93	68				
CHMP4A	29082	broad.mit.edu	37	14	24679976	24679976	+	Splice_Site	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:24679976T>C	ENST00000609024.1	-	4	408		c.e4-2		TM9SF1_ENST00000530611.1_Splice_Site|CHMP4A_ENST00000530996.1_Splice_Site|TM9SF1_ENST00000556387.1_Splice_Site|CHMP4A_ENST00000347519.6_Splice_Site|CHMP4A_ENST00000542700.2_Splice_Site|AL136419.6_ENST00000565988.1_RNA			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCAATGTCCCTGAGAATGAGA	0.488																																							uc010tob.1		NA																	0				ovary(1)	1						c.e4-1		transmembrane 9 superfamily member 1 isoform a							191.0	150.0	164.0					14																	24679976		2203	4300	6503	SO:0001630	splice_region_variant	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679976T>C	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.360-2A>G	14.37:g.24679976T>C						CHMP4A_uc001wni.2_Splice_Site_p.M163_splice|CHMP4A_uc010toc.1_Splice_Site|CHMP4A_uc001wnj.2_Splice_Site_p.M163_splice	p.M146_splice	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	4	1072	-								Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Splice_Site	SNP	ENST00000609024.1	37	c.438_splice		.	.	.	.	.	.	.	.	.	.	T	19.04	3.749618	0.69533	.	.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.256	0.60079	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TM9SF1;AL096870.1;RP11-468E2.1	23749816	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	7.443000	0.80521	2.234000	0.73211	0.459000	0.35465	.		0.488	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169	Intron	7	122	0	0	0	0.004482	0	7	122				
HECTD1	25831	broad.mit.edu	37	14	31592131	31592131	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:31592131C>T	ENST00000399332.1	-	27	5592	c.5104G>A	c.(5104-5106)Gag>Aag	p.E1702K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1702K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1702					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATAACCTCCTCGTATTCTTGG	0.388																																							uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(5104-5106)GAG>AAG		HECT domain containing 1							218.0	211.0	213.0					14																	31592131		1991	4170	6161	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31592131C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5104G>A	14.37:g.31592131C>T	ENSP00000382269:p.Glu1702Lys					HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.E1170K	p.E1702K	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	27	5593	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1702					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5104G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923452	0.92319	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41400	1.0;1.0;3.17	5.44	5.44	0.79542	.	0.000000	0.64402	U	0.000001	T	0.49762	0.1576	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.62649	0.905;0.905	T	0.32903	-0.9889	10	0.21540	T	0.41	-9.8366	19.2633	0.93977	0.0:1.0:0.0:0.0	.	1702;1702	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	1702;1704;1702;1129	ENSP00000450697:E1702K;ENSP00000382269:E1702K;ENSP00000451860:E1129K	ENSP00000261312:E1704K	E	-	1	0	HECTD1	30661882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.567000	0.86603	0.455000	0.32223	GAG		0.388	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			38	140	0	0	0	0.00623	0	38	140				
PRPF39	55015	broad.mit.edu	37	14	45584071	45584071	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:45584071G>C	ENST00000355765.6	+	14	2135	c.1965G>C	c.(1963-1965)caG>caC	p.Q655H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	655					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACAATTATCAGAATCCTTGGA	0.308																																							uc001wvz.3		NA																	0				ovary(1)|breast(1)	2						c.(1963-1965)CAG>CAC		PRP39 pre-mRNA processing factor 39 homolog							108.0	106.0	106.0					14																	45584071		2203	4297	6500	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45584071G>C	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1965G>C	14.37:g.45584071G>C	ENSP00000348010:p.Gln655His					PRPF39_uc001wvy.3_Missense_Mutation_p.Q534H|PRPF39_uc010and.2_Missense_Mutation_p.Q445H|PRPF39_uc001wwa.1_3'UTR	p.Q655H	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN			14	2135	+			655					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.1965G>C	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711992	0.30322	.	.	ENSG00000185246	ENST00000355765	T	0.50813	0.73	5.71	4.81	0.61882	.	0.487586	0.23708	N	0.045341	T	0.36908	0.0984	L	0.46157	1.445	0.42698	D	0.993602	B	0.14012	0.009	B	0.14023	0.01	T	0.17048	-1.0382	10	0.18710	T	0.47	-7.4619	7.9936	0.30254	0.0732:0.0:0.6399:0.287	.	655	Q86UA1	PRP39_HUMAN	H	655	ENSP00000348010:Q655H	ENSP00000348010:Q655H	Q	+	3	2	PRPF39	44653821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.938000	0.48987	1.393000	0.46605	0.655000	0.94253	CAG		0.308	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			4	55	0	0	0	0.009096	0	4	55				
MAX	4149	broad.mit.edu	37	14	65544682	65544682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:65544682G>A	ENST00000358664.4	-	4	374	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_Nonsense_Mutation_p.Q82*|MAX_ENST00000555667.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000556443.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000557746.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Nonsense_Mutation_p.Q82*|MAX_ENST00000555932.1_Intron|MAX_ENST00000358402.4_Nonsense_Mutation_p.Q73*|MAX_ENST00000555419.1_Nonsense_Mutation_p.Q46*	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	82	Leucine-zipper.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ATATCTTGCTGGTGTGTGTGG	0.542																																							uc001xif.1		NA																	0				lung(1)	1						c.(244-246)CAG>TAG		MAX protein isoform a							139.0	117.0	124.0					14																	65544682		2203	4300	6503	SO:0001587	stop_gained	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544682G>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.244C>T	14.37:g.65544682G>A	ENSP00000351490:p.Gln82*					MAX_uc001xic.1_Intron|MAX_uc001xie.1_Nonsense_Mutation_p.Q82*|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Nonsense_Mutation_p.Q73*|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Nonsense_Mutation_p.Q73*|MAX_uc001xij.1_Nonsense_Mutation_p.Q82*	p.Q82*	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	414	-			82			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Nonsense_Mutation	SNP	ENST00000358664.4	37	c.244C>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072933	0.76415	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556892;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.0435	17.4403	0.87563	0.0:0.0:1.0:0.0	.	.	.	.	X	73;82;82;46;9;89;82;73;73;73	.	ENSP00000284165:Q82X	Q	-	1	0	MAX	64614435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.750000	0.98875	2.382000	0.81193	0.557000	0.71058	CAG		0.542	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		74	49	0	0	0	0.00361	0	74	49				
RGS6	9628	broad.mit.edu	37	14	72921245	72921245	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:72921245T>A	ENST00000553530.1	+	4	401	c.194T>A	c.(193-195)aTt>aAt	p.I65N	RGS6_ENST00000555571.1_Missense_Mutation_p.I65N|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Missense_Mutation_p.I65N|RGS6_ENST00000355512.6_Missense_Mutation_p.I65N|RGS6_ENST00000343854.6_Missense_Mutation_p.I65N|RGS6_ENST00000434263.2_5'UTR|RGS6_ENST00000402788.2_Missense_Mutation_p.I65N|RGS6_ENST00000553525.1_Missense_Mutation_p.I65N|RGS6_ENST00000406236.4_Missense_Mutation_p.I65N|RGS6_ENST00000407322.4_Missense_Mutation_p.I65N|RGS6_ENST00000556437.1_Missense_Mutation_p.I65N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	65	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGTACTGACATTGTGCAGTGG	0.448																																					Ovarian(143;1926 2468 21071 48641)	Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(193-195)ATT>AAT		regulator of G-protein signalling 6							249.0	211.0	224.0					14																	72921245		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72921245T>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.194T>A	14.37:g.72921245T>A	ENSP00000452331:p.Ile65Asn					RGS6_uc010ttn.1_Missense_Mutation_p.I65N|RGS6_uc001xmx.3_Missense_Mutation_p.I65N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.I65N|RGS6_uc010ttp.1_Translation_Start_Site|RGS6_uc010arg.2_RNA	p.I65N	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	4	717	+			65			DEP.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.194T>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072965	0.76415	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330	T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.03	6.03	0.97812	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.269951	0.42172	D	0.000745	T	0.50684	0.1630	M	0.76170	2.325	0.58432	D	0.999996	D;D	0.60160	0.987;0.987	P;P	0.62885	0.908;0.866	T	0.53606	-0.8415	10	0.87932	D	0	-3.9665	16.5655	0.84588	0.0:0.0:0.0:1.0	.	70;65	Q59FJ8;P49758	.;RGS6_HUMAN	N	65;65;65;65;65;65;65;65;65;65;37	ENSP00000451030:I65N;ENSP00000450936:I65N;ENSP00000452331:I65N;ENSP00000451855:I65N;ENSP00000347699:I65N;ENSP00000385243:I65N;ENSP00000384218:I65N;ENSP00000384612:I65N;ENSP00000383953:I65N;ENSP00000341199:I65N	ENSP00000341199:I65N	I	+	2	0	RGS6	71990998	1.000000	0.71417	0.453000	0.27007	0.819000	0.46315	7.202000	0.77856	2.302000	0.77476	0.533000	0.62120	ATT		0.448	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			7	160	0	0	0	0.00308	0	7	160				
SYNE3	161176	broad.mit.edu	37	14	95932297	95932297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:95932297C>A	ENST00000334258.5	-	3	612	c.598G>T	c.(598-600)Gag>Tag	p.E200*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.E200*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.E200*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	200					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GCATCGTACTCAGCCTTCATT	0.602																																							uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(598-600)GAG>TAG		nesprin-3							144.0	113.0	124.0					14																	95932297		2203	4300	6503	SO:0001587	stop_gained	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932297C>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.598G>T	14.37:g.95932297C>A	ENSP00000334308:p.Glu200*					C14orf49_uc010avi.2_Nonsense_Mutation_p.E200*|C14orf49_uc001yej.1_Nonsense_Mutation_p.E200*	p.E200*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	3	613	-		all_cancers(154;0.0937)	200			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	ENST00000334258.5	37	c.598G>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	15.64	2.894514	0.52121	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	.	.	.	4.12	3.22	0.36961	.	0.193203	0.25175	N	0.032574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.9303	14.9164	0.70801	0.0:0.9203:0.0:0.0797	.	.	.	.	X	200	.	ENSP00000334308:E200X	E	-	1	0	C14orf49	95002050	0.889000	0.30405	0.047000	0.18901	0.022000	0.10575	1.791000	0.38744	0.219000	0.20840	-1.902000	0.00527	GAG		0.602	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		16	57	1	0	3.41278e-10	0.00499	3.88447e-10	16	57				
ATG2B	55102	broad.mit.edu	37	14	96752139	96752139	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:96752139C>G	ENST00000359933.4	-	42	7083	c.6190G>C	c.(6190-6192)Gat>Cat	p.D2064H		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2064					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCCGGACATCTGGCCTAATT	0.537																																							uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(6190-6192)GAT>CAT		ATG2 autophagy related 2 homolog B							150.0	114.0	126.0					14																	96752139		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96752139C>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6190G>C	14.37:g.96752139C>G	ENSP00000353010:p.Asp2064His						p.D2064H	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	42	6555	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	2064					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.6190G>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	32	5.123946	0.94429	.	.	ENSG00000066739	ENST00000359933	T	0.12147	2.71	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50668	-0.8801	10	0.72032	D	0.01	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	2064	Q96BY7	ATG2B_HUMAN	H	2064	ENSP00000353010:D2064H	ENSP00000353010:D2064H	D	-	1	0	ATG2B	95821892	1.000000	0.71417	0.896000	0.35187	0.875000	0.50365	7.468000	0.80943	2.713000	0.92767	0.655000	0.94253	GAT		0.537	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		20	74	0	0	0	0.008871	0	20	74				
BCL11B	64919	broad.mit.edu	37	14	99641922	99641922	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:99641922C>A	ENST00000357195.3	-	4	1260	c.1251G>T	c.(1249-1251)acG>acT	p.T417T	BCL11B_ENST00000345514.2_Silent_p.T346T|BCL11B_ENST00000443726.2_Silent_p.T223T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	417					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGGGGGCGGCGTGCCGCCAG	0.687			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1249-1251)ACG>ACT		B-cell CLL/lymphoma 11B isoform 1							10.0	13.0	12.0					14																	99641922		2153	4253	6406	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641922C>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1251G>T	14.37:g.99641922C>A						BCL11B_uc001ygb.2_Silent_p.T346T	p.T417T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	1518	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	417					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1251G>T	CCDS9950.1																																																																																				0.687	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		28	9	1	0	1.74197e-06	0.00632	1.86776e-06	28	9				
RTL1	388015	broad.mit.edu	37	14	101348393	101348393	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:101348393G>T	ENST00000534062.1	-	1	2791	c.2733C>A	c.(2731-2733)tcC>tcA	p.S911S	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	911					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCTCGATAGGGGAGATGTTGC	0.587																																							uc010txj.1		NA																	0				pancreas(1)	1						c.(2731-2733)TCC>TCA		retrotransposon-like 1							28.0	26.0	27.0					14																	101348393		692	1591	2283	SO:0001819	synonymous_variant	388015							g.chr14:101348393G>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2733C>A	14.37:g.101348393G>T						uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.S911S	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	2792	-			911					E9PKS8	Silent	SNP	ENST00000534062.1	37	c.2733C>A	CCDS53910.1																																																																																				0.587	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		7	22	1	0	2.0095e-06	0.001984	2.14522e-06	7	22				
DYNC1H1	1778	broad.mit.edu	37	14	102493027	102493027	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:102493027C>T	ENST00000360184.4	+	44	8918	c.8754C>T	c.(8752-8754)caC>caT	p.H2918H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2918	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCTAGACCACGTGCTGAGGA	0.478																																							uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(8752-8754)CAC>CAT		cytoplasmic dynein 1 heavy chain 1							106.0	98.0	100.0					14																	102493027		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493027C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8754C>T	14.37:g.102493027C>T							p.H2918H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			44	8918	+			2918			AAA 4 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.8754C>T	CCDS9966.1																																																																																				0.478	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		36	29	0	0	0	0.002836	0	36	29				
CEP170B	283638	broad.mit.edu	37	14	105350319	105350319	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:105350319G>A	ENST00000414716.3	+	9	1431	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	CEP170B_ENST00000453495.1_Silent_p.Q402Q|CEP170B_ENST00000556508.1_Silent_p.Q331Q|CEP170B_ENST00000418279.1_Silent_p.Q331Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	401						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TACATAACCAGCAGGCCTTTG	0.662																																							uc010axb.2		NA																	0				breast(1)	1						c.(1201-1203)CAG>CAA		hypothetical protein LOC283638 isoform 1							34.0	40.0	38.0					14																	105350319		2051	4177	6228	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105350319G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1203G>A	14.37:g.105350319G>A						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.Q331Q|KIAA0284_uc001yps.2_Silent_p.Q307Q	p.Q401Q	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	9	1427	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	401					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.1203G>A	CCDS45175.1																																																																																				0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		12	12	0	0	0	0.001368	0	12	12				
OR4M2	390538	broad.mit.edu	37	15	22368735	22368735	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:22368735C>T	ENST00000332663.2	+	1	258	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTAGACCCTCATCTGACCTC	0.403																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(160-162)CAT>TAT		olfactory receptor, family 4, subfamily M,							510.0	444.0	466.0					15																	22368735		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368735C>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.160C>T	15.37:g.22368735C>T	ENSP00000329467:p.His54Tyr					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.H54Y	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	160	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	54			Cytoplasmic (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.160C>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	9.236	1.037019	0.19669	.	.	ENSG00000182974	ENST00000332663	T	0.00792	5.69	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.01730	0.0055	M	0.87547	2.89	0.22827	N	0.998682	P	0.46578	0.88	B	0.43575	0.424	T	0.43669	-0.9377	10	0.16896	T	0.51	-5.7579	10.8078	0.46529	0.0:1.0:0.0:0.0	.	54	Q8NGB6	OR4M2_HUMAN	Y	54	ENSP00000329467:H54Y	ENSP00000329467:H54Y	H	+	1	0	OR4M2	19870099	0.000000	0.05858	0.530000	0.27963	0.824000	0.46624	0.353000	0.20130	1.422000	0.47177	0.448000	0.29417	CAT		0.403	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			17	741	0	0	0	0.008871	0	17	741				
OR4M2	390538	broad.mit.edu	37	15	22368914	22368914	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:22368914C>A	ENST00000332663.2	+	1	437	c.339C>A	c.(337-339)ttC>ttA	p.F113L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGGAGATGTTCTTGCTCACAG	0.468																																							uc010tzu.1		NA																	0				ovary(1)	1						c.(337-339)TTC>TTA		olfactory receptor, family 4, subfamily M,							292.0	242.0	259.0					15																	22368914		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368914C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.339C>A	15.37:g.22368914C>A	ENSP00000329467:p.Phe113Leu					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.F113L	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	339	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	113			Helical; Name=3; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.339C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.291209	0.23564	.	.	ENSG00000182974	ENST00000332663	T	0.05382	3.45	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000105	T	0.03095	0.0091	N	0.04705	-0.18	0.25359	N	0.988794	B	0.17667	0.023	B	0.20184	0.028	T	0.39840	-0.9594	10	0.40728	T	0.16	-17.7881	7.3831	0.26868	0.0:0.7261:0.2739:0.0	.	113	Q8NGB6	OR4M2_HUMAN	L	113	ENSP00000329467:F113L	ENSP00000329467:F113L	F	+	3	2	OR4M2	19870278	0.000000	0.05858	1.000000	0.80357	0.930000	0.56654	-0.704000	0.05058	1.422000	0.47177	0.448000	0.29417	TTC		0.468	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			72	423	1	0	7.46257e-40	0.00361	1.09975e-39	72	423				
NIPA1	123606	broad.mit.edu	37	15	23052651	23052651	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:23052651G>A	ENST00000337435.4	-	4	446	c.422C>T	c.(421-423)cCa>cTa	p.P141L	NIPA1_ENST00000561183.1_Missense_Mutation_p.P66L|NIPA1_ENST00000437912.2_Missense_Mutation_p.P66L|NIPA1_ENST00000538684.1_5'UTR	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	141					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTCAGACTTTGGGGAGTGGAT	0.493																																							uc001yvc.2		NA																	0					0						c.(421-423)CCA>CTA		non-imprinted in Prader-Willi/Angelman syndrome							144.0	135.0	138.0					15																	23052651		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23052651G>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.422C>T	15.37:g.23052651G>A	ENSP00000337452:p.Pro141Leu					NIPA1_uc001yvd.2_5'UTR|NIPA1_uc001yve.2_Missense_Mutation_p.P66L	p.P141L	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	447	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	141			Extracellular (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.422C>T	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894214	0.91889	.	.	ENSG00000170113	ENST00000337435;ENST00000437912	D;D	0.96265	-3.96;-3.96	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.98563	0.9520	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99671	1.0996	10	0.87932	D	0	-24.0551	18.0109	0.89222	0.0:0.0:1.0:0.0	.	141	Q7RTP0	NIPA1_HUMAN	L	141;66	ENSP00000337452:P141L;ENSP00000393962:P66L	ENSP00000337452:P141L	P	-	2	0	NIPA1	20604092	1.000000	0.71417	0.981000	0.43875	0.914000	0.54420	9.274000	0.95731	2.510000	0.84645	0.555000	0.69702	CCA		0.493	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		71	128	0	0	0	0.00361	0	71	128				
SNRPN	6638	broad.mit.edu	37	15	25222062	25222062	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:25222062A>T	ENST00000400100.1	+	10	1196	c.306A>T	c.(304-306)ggA>ggT	p.G102G	SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000390687.4_Silent_p.G102G|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Silent_p.G102G|SNRPN_ENST00000444203.2_Silent_p.G106G|SNRPN_ENST00000400098.1_Silent_p.G102G|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Silent_p.G106G|SNRPN_ENST00000577565.1_Silent_p.G102G|SNRPN_ENST00000400097.1_Silent_p.G102G	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	102					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GAGCTGCTGGAGGCCCTGGGG	0.527									Prader-Willi syndrome																														uc001ywp.1		NA																	0				ovary(1)	1						c.(304-306)GGA>GGT		small nuclear ribonucleoprotein polypeptide N							81.0	84.0	83.0					15																	25222062		1937	4146	6083	SO:0001819	synonymous_variant	6638	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222062A>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.306A>T	15.37:g.25222062A>T						SNRPN_uc001ywq.1_Silent_p.G102G|SNRPN_uc001ywr.1_Silent_p.G102G|SNRPN_uc001yws.1_Silent_p.G102G|SNRPN_uc001ywt.1_Silent_p.G102G|SNRPN_uc001ywv.1_Silent_p.G105G|SNRPN_uc001yww.1_Silent_p.G102G|SNRPN_uc001ywx.1_Silent_p.G102G|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G102G	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1196	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	102					B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.306A>T	CCDS10017.1																																																																																				0.527	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		33	114	0	0	0	0.004289	0	33	114				
HERC2	8924	broad.mit.edu	37	15	28473435	28473435	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:28473435C>A	ENST00000261609.7	-	35	5501	c.5393G>T	c.(5392-5394)gGc>gTc	p.G1798V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTGTTTGCGCCGTGCTGCAG	0.617																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5392-5394)GGC>GTC		hect domain and RLD 2							88.0	66.0	73.0					15																	28473435		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28473435C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5393G>T	15.37:g.28473435C>A	ENSP00000261609:p.Gly1798Val						p.G1798V	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	35	5499	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1798						Missense_Mutation	SNP	ENST00000261609.7	37	c.5393G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	8.103	0.777036	0.16120	.	.	ENSG00000128731	ENST00000261609	T	0.38722	1.12	4.21	4.21	0.49690	.	0.120421	0.53938	D	0.000041	T	0.33614	0.0869	L	0.36672	1.1	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.11518	-1.0584	10	0.17369	T	0.5	.	17.1056	0.86662	0.0:1.0:0.0:0.0	.	1798	O95714	HERC2_HUMAN	V	1798	ENSP00000261609:G1798V	ENSP00000261609:G1798V	G	-	2	0	HERC2	26147030	1.000000	0.71417	0.149000	0.22428	0.335000	0.28730	5.489000	0.66875	2.315000	0.78130	0.555000	0.69702	GGC		0.617	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		18	44	1	0	2.94398e-08	0.007413	3.23442e-08	18	44				
HERC2	8924	broad.mit.edu	37	15	28493784	28493784	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:28493784G>A	ENST00000261609.7	-	21	3257	c.3149C>T	c.(3148-3150)tCa>tTa	p.S1050L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATCCAATGAAGCAGATCT	0.388																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3148-3150)TCA>TTA		hect domain and RLD 2							102.0	93.0	96.0					15																	28493784		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28493784G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3149C>T	15.37:g.28493784G>A	ENSP00000261609:p.Ser1050Leu						p.S1050L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	21	3255	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1050						Missense_Mutation	SNP	ENST00000261609.7	37	c.3149C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397954	0.62177	.	.	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.70595	2.14	0.80722	D	1	B	0.33694	0.421	B	0.32864	0.154	T	0.66284	-0.5962	10	0.72032	D	0.01	.	18.8403	0.92182	0.0:0.0:1.0:0.0	.	1050	O95714	HERC2_HUMAN	L	1050	ENSP00000261609:S1050L	ENSP00000261609:S1050L	S	-	2	0	HERC2	26167379	1.000000	0.71417	0.088000	0.20740	0.170000	0.22686	9.403000	0.97302	2.524000	0.85096	0.467000	0.42956	TCA		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	46	0	0	0	0.010729	0	11	46				
FAN1	22909	broad.mit.edu	37	15	31197848	31197848	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:31197848G>C	ENST00000362065.4	+	2	1273	c.982G>C	c.(982-984)Gat>Cat	p.D328H	FAN1_ENST00000561607.1_Missense_Mutation_p.D328H|FAN1_ENST00000565466.1_Missense_Mutation_p.D328H|FAN1_ENST00000561594.1_Missense_Mutation_p.D328H	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	328					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAGTTCTGCAGATGATGCTTC	0.433								Direct reversal of damage																															uc001zff.2		NA																	0					0						c.(982-984)GAT>CAT	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							78.0	73.0	74.0					15																	31197848		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197848G>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.982G>C	15.37:g.31197848G>C	ENSP00000354497:p.Asp328His					MTMR15_uc001zfc.3_Missense_Mutation_p.D328H|MTMR15_uc010azw.2_Missense_Mutation_p.D328H|MTMR15_uc001zfd.3_Missense_Mutation_p.D328H|MTMR15_uc001zfe.2_5'UTR	p.D328H	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	1273	+		all_lung(180;2.23e-09)	328					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.982G>C	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684086	0.14907	.	.	ENSG00000198690	ENST00000362065	T	0.43688	0.94	5.45	-7.34	0.01427	.	2.201550	0.01519	N	0.018278	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.13575	-1.0504	10	0.42905	T	0.14	1.8377	4.7554	0.13080	0.2874:0.2704:0.3673:0.0749	.	328;328	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	H	328	ENSP00000354497:D328H	ENSP00000354497:D328H	D	+	1	0	FAN1	28985140	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.286000	0.02788	-1.343000	0.02219	-1.099000	0.02127	GAT		0.433	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	59	0	0	0	0.009096	0	4	59				
NUTM1	256646	broad.mit.edu	37	15	34648927	34648927	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:34648927T>A	ENST00000333756.4	+	7	2789	c.2634T>A	c.(2632-2634)ccT>ccA	p.P878P	NUTM1_ENST00000438749.3_Silent_p.P896P|NUTM1_ENST00000537011.1_Silent_p.P906P	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	878						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCCTTGCCTGAAGCCAGTC	0.498																																							uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2632-2634)CCT>CCA		nuclear protein in testis							55.0	52.0	53.0					15																	34648927		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34648927T>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2634T>A	15.37:g.34648927T>A						C15orf55_uc010ucc.1_Silent_p.P906P|C15orf55_uc010ucd.1_Silent_p.P896P	p.P878P	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2789	+		all_lung(180;2.78e-08)	878					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2634T>A	CCDS32190.1																																																																																				0.498	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		24	66	0	0	0	0.00278	0	24	66				
FSIP1	161835	broad.mit.edu	37	15	40068673	40068673	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:40068673G>C	ENST00000350221.3	-	2	262	c.53C>G	c.(52-54)tCa>tGa	p.S18*	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	18								p.S18L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCGTATTCTTGAATTTGAAGC	0.358																																							uc001zki.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(2)|skin(1)	3						c.(52-54)TCA>TGA		fibrous sheath interacting protein 1							133.0	129.0	131.0					15																	40068673		2203	4300	6503	SO:0001587	stop_gained	161835							g.chr15:40068673G>C	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.53C>G	15.37:g.40068673G>C	ENSP00000280236:p.Ser18*						p.S18*	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	2	271	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	18					Q6X2C8|Q86Y89	Nonsense_Mutation	SNP	ENST00000350221.3	37	c.53C>G	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	37	6.295688	0.97449	.	.	ENSG00000150667	ENST00000350221	.	.	.	4.99	4.99	0.66335	.	0.246709	0.28182	N	0.016294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3472	15.6532	0.77112	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	.	S	-	2	0	FSIP1	37855965	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.955000	0.63638	2.754000	0.94517	0.603000	0.83216	TCA		0.358	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		7	98	0	0	0	0.00308	0	7	98				
LTK	4058	broad.mit.edu	37	15	41799484	41799484	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:41799484C>A	ENST00000263800.6	-	11	1446	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	LTK_ENST00000355166.5_Missense_Mutation_p.K389N|LTK_ENST00000453182.2_Intron|LTK_ENST00000561619.1_Missense_Mutation_p.K148N	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	450					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACTTCTTCTGCTTCACTGGGG	0.602										TSP Lung(18;0.14)																													uc001zoa.3		NA																	0				lung(6)|central_nervous_system(1)	7						c.(1348-1350)AAG>AAT		leukocyte receptor tyrosine kinase isoform 1							26.0	28.0	28.0					15																	41799484		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41799484C>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1350G>T	15.37:g.41799484C>A	ENSP00000263800:p.Lys450Asn	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.K389N|LTK_uc010ucx.1_Intron|LTK_uc010bcg.2_Missense_Mutation_p.K148N	p.K450N	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	11	1528	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	450			Cytoplasmic (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1350G>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113562	0.08831	.	.	ENSG00000062524	ENST00000355166;ENST00000263800	T;T	0.76578	-1.03;-0.8	4.71	2.83	0.33086	.	0.686127	0.11933	N	0.515498	T	0.45935	0.1367	N	0.01048	-1.04	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.28202	-1.0051	10	0.30854	T	0.27	.	4.7112	0.12873	0.1964:0.1928:0.6108:0.0	.	389;450	P29376-4;P29376	.;LTK_HUMAN	N	389;450	ENSP00000347293:K389N;ENSP00000263800:K450N	ENSP00000263800:K450N	K	-	3	2	LTK	39586776	0.999000	0.42202	0.997000	0.53966	0.117000	0.20001	0.831000	0.27476	0.613000	0.30089	-0.321000	0.08615	AAG		0.602	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			15	32	1	0	1.5739e-10	0.004007	1.79979e-10	15	32				
MAP1A	4130	broad.mit.edu	37	15	43817250	43817250	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:43817250C>A	ENST00000300231.5	+	4	4029	c.3579C>A	c.(3577-3579)gaC>gaA	p.D1193E	MAP1A_ENST00000399453.1_Missense_Mutation_p.D1193E|MAP1A_ENST00000382031.1_Missense_Mutation_p.D1431E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1193					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCCAGAAGACACCCAGTCAC	0.552																																							uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3577-3579)GAC>GAA		microtubule-associated protein 1A	Estramustine(DB01196)						83.0	86.0	85.0					15																	43817250		1961	4140	6101	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817250C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3579C>A	15.37:g.43817250C>A	ENSP00000300231:p.Asp1193Glu						p.D1193E	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4046	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1193					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3579C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931285	0.18131	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01397	4.94;4.94;4.94	5.11	-3.88	0.04205	.	0.222920	0.22881	N	0.054517	T	0.01765	0.0056	M	0.80183	2.485	0.20074	N	0.999936	B	0.31931	0.347	B	0.27715	0.082	T	0.48410	-0.9038	10	0.13470	T	0.59	-11.962	9.3281	0.38005	0.1038:0.2595:0.0:0.6367	.	1193	P78559	MAP1A_HUMAN	E	1431;1193;1193	ENSP00000371462:D1431E;ENSP00000382380:D1193E;ENSP00000300231:D1193E	ENSP00000300231:D1193E	D	+	3	2	MAP1A	41604542	0.000000	0.05858	0.910000	0.35882	0.657000	0.38888	-3.115000	0.00598	-0.597000	0.05813	-0.982000	0.02568	GAC		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		43	81	1	0	1.62957e-23	0.00874	2.16687e-23	43	81				
SERINC4	619189	broad.mit.edu	37	15	44088828	44088828	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:44088828A>G	ENST00000319327.6	-	8	1287	c.1053T>C	c.(1051-1053)tgT>tgC	p.C351C	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|MIR1282_ENST00000408865.1_RNA|HYPK_ENST00000406925.1_5'UTR|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000249714.3_Silent_p.C107C|SERINC4_ENST00000299969.6_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	351					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAAAAAGCACACAAGCATACA	0.498																																							uc010bds.1		NA																	0					0						c.(319-321)TGT>TGC		serine incorporator 4							148.0	131.0	136.0					15																	44088828		2198	4298	6496	SO:0001819	synonymous_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44088828A>G	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1053T>C	15.37:g.44088828A>G						ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Silent_p.C107C	p.C107C	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	5	789	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	351			Helical; (Potential).		B2RN41|Q3YL75	Silent	SNP	ENST00000319327.6	37	c.321T>C	CCDS58360.1																																																																																				0.498	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			49	112	0	0	0	0.00361	0	49	112				
GALK2	2585	broad.mit.edu	37	15	49620315	49620315	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:49620315A>T	ENST00000560031.1	+	10	1643	c.1336A>T	c.(1336-1338)Acc>Tcc	p.T446S	GALK2_ENST00000543495.1_3'UTR|GALK2_ENST00000559454.1_Missense_Mutation_p.T422S|GALK2_ENST00000544523.1_Missense_Mutation_p.T422S|GALK2_ENST00000327171.3_Missense_Mutation_p.T435S|GALK2_ENST00000396509.2_Missense_Mutation_p.T422S			Q01415	GALK2_HUMAN	galactokinase 2	446					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TTTGTTTGCTACCAAACCTGG	0.463																																							uc001zxj.1		NA																	0				breast(1)	1						c.(1336-1338)ACC>TCC		galactokinase 2 isoform 1							69.0	68.0	69.0					15																	49620315		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49620315A>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.1336A>T	15.37:g.49620315A>T	ENSP00000453129:p.Thr446Ser					GALK2_uc001zxi.1_Missense_Mutation_p.T435S|GALK2_uc010ufb.1_Missense_Mutation_p.T422S|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.T422S	p.T446S	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	10	1434	+		all_lung(180;0.000325)	446					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.1336A>T	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350359	0.41599	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.83419	-1.72;-1.71	5.65	5.65	0.86999	.	0.048823	0.85682	D	0.000000	T	0.80042	0.4551	L	0.31120	0.905	0.80722	D	1	B;B	0.32467	0.372;0.033	B;B	0.42995	0.404;0.083	T	0.75758	-0.3205	10	0.21014	T	0.42	-16.693	16.0399	0.80667	1.0:0.0:0.0:0.0	.	446;435	Q01415;Q7Z4Q4	GALK2_HUMAN;.	S	435;446;422	ENSP00000316632:T435S;ENSP00000440312:T422S	ENSP00000316632:T435S	T	+	1	0	GALK2	47407607	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.695000	0.68279	2.371000	0.80710	0.533000	0.62120	ACC		0.463	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			21	46	0	0	0	0.010504	0	21	46				
ATP8B4	79895	broad.mit.edu	37	15	50154487	50154487	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:50154487T>C	ENST00000284509.6	-	27	3393	c.3252A>G	c.(3250-3252)gcA>gcG	p.A1084A	ATP8B4_ENST00000559829.1_Silent_p.A1084A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1084						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAATCTGAATGCCACCACTG	0.423																																							uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3250-3252)GCA>GCG		ATPase class I type 8B member 4							84.0	76.0	79.0					15																	50154487		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50154487T>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3252A>G	15.37:g.50154487T>C						ATP8B4_uc010ber.2_Silent_p.A957A|ATP8B4_uc010ufd.1_Silent_p.A894A|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Silent_p.A87A	p.A1084A	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	27	3394	-		all_lung(180;0.00183)	1084			Helical; (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.3252A>G	CCDS32238.1																																																																																				0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		16	39	0	0	0	0.003163	0	16	39				
DMXL2	23312	broad.mit.edu	37	15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428																																							uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(6493-6495)CAT>TAT		Dmx-like 2							101.0	105.0	104.0					15																	51772810		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772810G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6493C>T	15.37:g.51772810G>A	ENSP00000251076:p.His2165Tyr					DMXL2_uc002abd.2_Missense_Mutation_p.H235Y|DMXL2_uc010ufy.1_Missense_Mutation_p.H2165Y|DMXL2_uc010bfa.2_Missense_Mutation_p.H1529Y	p.H2165Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6718	-			2165					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6493C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553488	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79749	-1.3;-1.3;-1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.76727	2.345	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;0.994;0.998	D;P;D;D	0.87578	0.998;0.885;0.977;0.948	D	0.89821	0.3989	10	0.59425	D	0.04	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	2165;1529;2165;2165	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2165;2165;1529	ENSP00000251076:H2165Y;ENSP00000441858:H2165Y;ENSP00000400855:H1529Y	ENSP00000251076:H2165Y	H	-	1	0	DMXL2	49560102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.729000	0.93468	0.655000	0.94253	CAT		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		5	143	0	0	0	0.000602	0	5	143				
UNC13C	440279	broad.mit.edu	37	15	54542458	54542458	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:54542458G>T	ENST00000260323.11	+	7	3264	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L	UNC13C_ENST00000537900.1_Silent_p.L1086L|UNC13C_ENST00000545554.1_Silent_p.L1088L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1088					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAGGCACTGATCTACCCTA	0.463																																							uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3262-3264)CTG>CTT		unc-13 homolog C							103.0	97.0	99.0					15																	54542458		2052	4224	6276	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542458G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3264G>T	15.37:g.54542458G>T							p.L1088L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	6	3264	+			1088					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3264G>T	CCDS45264.1																																																																																				0.463	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	67	1	0	2.32078e-09	0.003163	2.59631e-09	14	67				
ADAM10	102	broad.mit.edu	37	15	58974496	58974496	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:58974496A>T	ENST00000260408.3	-	3	667	c.224T>A	c.(223-225)aTg>aAg	p.M75K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	75					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GTCCCTCTTCATTCGTAGGTT	0.294																																							uc002afd.1		NA																	0				skin(2)	2						c.(223-225)ATG>AAG		ADAM metallopeptidase domain 10 precursor							78.0	78.0	78.0					15																	58974496		2192	4289	6481	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58974496A>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.224T>A	15.37:g.58974496A>T	ENSP00000260408:p.Met75Lys					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.M75K	p.M75K	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	3	668	-			75			Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.224T>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522938	0.85600	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;T	0.06608	3.28;3.28	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	M	0.66939	2.045	0.80722	D	1	D;D	0.58970	0.984;0.98	P;P	0.58780	0.845;0.845	T	0.00145	-1.1993	10	0.87932	D	0	-24.9693	15.8921	0.79305	1.0:0.0:0.0:0.0	.	75;75	A0AV88;O14672	.;ADA10_HUMAN	K	75	ENSP00000260408:M75K;ENSP00000391930:M75K	ENSP00000260408:M75K	M	-	2	0	ADAM10	56761788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.870000	0.92336	2.162000	0.67917	0.482000	0.46254	ATG		0.294	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		26	50	0	0	0	0.012213	0	26	50				
VPS13C	54832	broad.mit.edu	37	15	62169227	62169227	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:62169227T>A	ENST00000261517.5	-	75	10242	c.10169A>T	c.(10168-10170)cAg>cTg	p.Q3390L	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3347L|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3390L|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3347L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTGTAGAACTGATATCGAAT	0.289																																							uc002agz.2		NA																	0				ovary(2)	2						c.(10168-10170)CAG>CTG		vacuolar protein sorting 13C protein isoform 2A							99.0	107.0	104.0					15																	62169227		2203	4294	6497	SO:0001583	missense	54832				protein localization			g.chr15:62169227T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10169A>T	15.37:g.62169227T>A	ENSP00000261517:p.Gln3390Leu					VPS13C_uc002aha.2_Missense_Mutation_p.Q3347L|VPS13C_uc002ahb.1_Missense_Mutation_p.Q3390L|VPS13C_uc002ahc.1_Missense_Mutation_p.Q3347L	p.Q3390L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			75	10243	-			3390						Missense_Mutation	SNP	ENST00000261517.5	37	c.10169A>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752628	0.69533	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.79845	-1.31;-1.31;-1.31	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	M	0.82323	2.585	0.80722	D	1	P;D;D;P	0.54772	0.934;0.968;0.968;0.945	P;P;D;P	0.64144	0.804;0.895;0.922;0.616	D	0.87332	0.2325	10	0.27785	T	0.31	.	13.6621	0.62374	0.0:0.0:0.0:1.0	.	3347;3390;3347;3390	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	3347;3390;3390;3390	ENSP00000249837:Q3347L;ENSP00000261517:Q3390L;ENSP00000379233:Q3390L	ENSP00000249837:Q3347L	Q	-	2	0	VPS13C	59956519	1.000000	0.71417	0.993000	0.49108	0.466000	0.32739	7.101000	0.76997	2.031000	0.59945	0.477000	0.44152	CAG		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		47	120	0	0	0	0.00361	0	47	120				
PEAK1	79834	broad.mit.edu	37	15	77425939	77425939	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:77425939C>T	ENST00000560626.2	-	6	3960	c.3485G>A	c.(3484-3486)aGa>aAa	p.R1162K	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1162K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1162					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTATTGGCTCTTATGATCAT	0.493																																							uc002bcm.2		NA																	0					0						c.(3484-3486)AGA>AAA		NKF3 kinase family member							120.0	114.0	116.0					15																	77425939		1911	4130	6041	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425939C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3485G>A	15.37:g.77425939C>T	ENSP00000452796:p.Arg1162Lys						p.R1162K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	5	3793	-			1162					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3485G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960484	0.92791	.	.	ENSG00000173517	ENST00000312493	T	0.74421	-0.84	5.71	5.71	0.89125	.	0.120339	0.53938	D	0.000055	T	0.80374	0.4611	L	0.29908	0.895	0.45899	D	0.998746	D	0.69078	0.997	D	0.72625	0.978	T	0.81980	-0.0684	10	0.72032	D	0.01	-8.0398	18.0479	0.89338	0.0:1.0:0.0:0.0	.	1162	Q9H792	PEAK1_HUMAN	K	1162	ENSP00000309230:R1162K	ENSP00000309230:R1162K	R	-	2	0	AC087465.1	75212994	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.435000	0.66532	2.709000	0.92574	0.655000	0.94253	AGA		0.493	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			32	162	0	0	0	0.008361	0	32	162				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																							uc010bky.2		NA																	0					0						c.(217-219)CAA>CAG		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78211548T>C																													15.37:g.78211548T>C							p.Q73Q	NR_027024						11	983	-									Silent	SNP	ENST00000565869.1	37	c.219A>G																																																																																					0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	308	0	0	0	0.009096	0	4	308				
RASGRF1	5923	broad.mit.edu	37	15	79291123	79291123	+	Missense_Mutation	SNP	G	G	A	rs368623142		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:79291123G>A	ENST00000419573.3	-	19	3113	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	947					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R947C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTGCTCTGCGGATCACAAAC	0.612																																							uc002beq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2839-2841)CGC>TGC		Ras protein-specific guanine		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4392		0,0,2196	118.0	108.0	111.0		2791,2839,487	2.7	1.0	15		111	1,8585		0,1,4292	no	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	180,180,180	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	931/1258,947/1274,163/490	79291123	1,12977	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291123G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2839C>T	15.37:g.79291123G>A	ENSP00000405963:p.Arg947Cys					RASGRF1_uc002bep.2_Missense_Mutation_p.R931C|RASGRF1_uc010blm.1_Missense_Mutation_p.R856C|RASGRF1_uc002ber.3_Missense_Mutation_p.R931C|RASGRF1_uc010unh.1_Missense_Mutation_p.R342C|RASGRF1_uc002beo.2_Missense_Mutation_p.R163C	p.R947C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			19	3214	-			949					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2839C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795045	0.70452	0.0	1.16E-4	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.30714	1.52;1.52	4.74	2.66	0.31614	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74348	0.983;0.915;0.953;0.961	T	0.55347	-0.8155	10	0.66056	D	0.02	.	9.9283	0.41505	0.0:0.0:0.4981:0.5019	.	343;931;949;931	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	C	947;931;163	ENSP00000405963:R947C;ENSP00000378228:R163C	ENSP00000378224:R931C	R	-	1	0	RASGRF1	77078178	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.555000	0.36277	1.174000	0.42811	0.591000	0.81541	CGC		0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		21	92	0	0	0	0.002299	0	21	92				
FAM154B	283726	broad.mit.edu	37	15	82574765	82574765	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:82574765G>T	ENST00000339465.5	+	3	628	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.D172Y	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	187										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCACCGGTGTGACTTTCAGGG	0.443																																							uc002bgv.2		NA																	0				skin(2)	2						c.(559-561)GAC>TAC		hypothetical protein LOC283726							60.0	55.0	56.0					15																	82574765		2203	4300	6503	SO:0001583	missense	283726							g.chr15:82574765G>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.559G>T	15.37:g.82574765G>T	ENSP00000340445:p.Asp187Tyr					FAM154B_uc010unr.1_Missense_Mutation_p.D172Y|FAM154B_uc010uns.1_RNA	p.D187Y	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	628	+			187					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.559G>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384954	0.42308	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18174	2.23;2.23	3.9	3.9	0.45041	.	0.225576	0.34879	N	0.003610	T	0.38825	0.1055	M	0.73962	2.25	0.43156	D	0.994935	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.27640	-1.0068	10	0.87932	D	0	-11.3307	10.161	0.42851	0.094:0.0:0.906:0.0	.	172;187	B4E2M2;Q658L1	.;F154B_HUMAN	Y	187;172	ENSP00000340445:D187Y;ENSP00000403743:D172Y	ENSP00000340445:D187Y	D	+	1	0	FAM154B	80361820	1.000000	0.71417	0.859000	0.33776	0.290000	0.27261	5.106000	0.64597	2.158000	0.67659	0.536000	0.68110	GAC		0.443	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		29	63	1	0	2.48779e-11	0.005443	2.85819e-11	29	63				
AP3B2	8120	broad.mit.edu	37	15	83331452	83331452	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:83331452C>T	ENST00000261722.3	-	22	2977	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.E943K|AP3B2_ENST00000535348.1_Missense_Mutation_p.E892K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	924					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACCAATTTCGGGAAATTCT	0.577																																							uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2770-2772)GAA>AAA		adaptor-related protein complex 3, beta 2							31.0	34.0	33.0					15																	83331452		1941	4142	6083	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83331452C>T	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2770G>A	15.37:g.83331452C>T	ENSP00000261722:p.Glu924Lys					AP3B2_uc010uoi.1_Missense_Mutation_p.E943K|AP3B2_uc010uoj.1_Missense_Mutation_p.E892K|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.E560K	p.E924K	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		22	2947	-			924					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.2770G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863510	0.71949	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.57436	0.4;0.4;0.42	5.95	5.95	0.96441	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.981;0.981	T	0.65397	-0.6178	10	0.20046	T	0.44	-21.3809	20.3748	0.98911	0.0:1.0:0.0:0.0	.	892;943;924	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	K	924;892;943	ENSP00000261722:E924K;ENSP00000438721:E892K;ENSP00000440984:E943K	ENSP00000261722:E924K	E	-	1	0	AP3B2	81128507	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	7.697000	0.84279	2.817000	0.96982	0.563000	0.77884	GAA		0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			5	14	0	0	0	0.000602	0	5	14				
ACAN	176	broad.mit.edu	37	15	89381918	89381918	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:89381918G>C	ENST00000561243.1	+	2	95	c.95G>C	c.(94-96)aGc>aCc	p.S32T	ACAN_ENST00000558207.1_Missense_Mutation_p.S32T|ACAN_ENST00000439576.2_Missense_Mutation_p.S32T|ACAN_ENST00000559004.1_Missense_Mutation_p.S32T|ACAN_ENST00000352105.7_Missense_Mutation_p.S32T			P16112	PGCA_HUMAN	aggrecan	32					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAGTGTCAGCATCCCCCAA	0.612																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(94-96)AGC>ACC		aggrecan isoform 2 precursor							111.0	122.0	118.0					15																	89381918		2040	4181	6221	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89381918G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.95G>C	15.37:g.89381918G>C	ENSP00000453342:p.Ser32Thr					ACAN_uc002bmx.2_Missense_Mutation_p.S32T|ACAN_uc010upp.1_Missense_Mutation_p.S32T|ACAN_uc002bna.2_RNA	p.S32T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	469	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		32					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.95G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622794	0.46840	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02236	4.6;4.38	4.95	4.95	0.65309	.	.	.	.	.	T	0.05181	0.0138	L	0.39085	1.19	0.27764	N	0.94371	D;D;B	0.61697	0.99;0.99;0.06	P;P;B	0.60173	0.87;0.87;0.224	T	0.35919	-0.9769	9	0.52906	T	0.07	-22.2594	6.2892	0.21051	0.0985:0.0:0.7159:0.1856	.	32;32;32	E7ENV9;E7EX88;Q6PID9	.;.;.	T	32	ENSP00000387356:S32T;ENSP00000341615:S32T	ENSP00000268134:S32T	S	+	2	0	ACAN	87182922	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.413000	0.66399	2.464000	0.83262	0.591000	0.81541	AGC		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	157	0	0	0	0.004482	0	8	157				
ACAN	176	broad.mit.edu	37	15	89386626	89386626	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:89386626C>T	ENST00000561243.1	+	5	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ACAN_ENST00000558207.1_Silent_p.F266F|ACAN_ENST00000439576.2_Silent_p.F266F|ACAN_ENST00000559004.1_Silent_p.F266F|ACAN_ENST00000352105.7_Silent_p.F266F			P16112	PGCA_HUMAN	aggrecan	266	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTTCACCTTCCAGGAAGCAG	0.632																																							uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(796-798)TTC>TTT		aggrecan isoform 2 precursor							24.0	26.0	25.0					15																	89386626		1933	4150	6083	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386626C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.798C>T	15.37:g.89386626C>T						ACAN_uc002bmx.2_Silent_p.F266F|ACAN_uc010upp.1_Silent_p.F266F|ACAN_uc002bna.2_RNA	p.F266F	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1172	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		266					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.798C>T	CCDS53970.1																																																																																				0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		18	29	0	0	0	0.010504	0	18	29				
MAN2A2	4122	broad.mit.edu	37	15	91456191	91456191	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:91456191C>T	ENST00000559717.1	+	17	3013	c.2554C>T	c.(2554-2556)Cac>Tac	p.H852Y	MAN2A2_ENST00000431652.2_Missense_Mutation_p.H360Y|MAN2A2_ENST00000430376.2_Missense_Mutation_p.H42Y|MAN2A2_ENST00000360468.3_Missense_Mutation_p.H852Y			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	852					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGAGCACATTCACCAGGCGGT	0.567																																							uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(2554-2556)CAC>TAC		mannosidase, alpha, class 2A, member 2							113.0	102.0	106.0					15																	91456191		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91456191C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2554C>T	15.37:g.91456191C>T	ENSP00000452948:p.His852Tyr					MAN2A2_uc002bqc.2_Missense_Mutation_p.H852Y|MAN2A2_uc010uql.1_Missense_Mutation_p.H514Y|MAN2A2_uc010uqm.1_Missense_Mutation_p.H431Y|MAN2A2_uc010uqn.1_RNA	p.H852Y	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		17	2669	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		852					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2554C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	1.984	-0.433380	0.04669	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;T;T	0.78707	-1.2;-1.2;-1.2	5.02	5.02	0.67125	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.328507	0.38837	N	0.001542	T	0.71239	0.3316	L	0.36672	1.1	0.41576	D	0.988716	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.66040	-0.6022	10	0.38643	T	0.18	-28.7764	18.5937	0.91223	0.0:1.0:0.0:0.0	.	360;480;852	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	Y	852;360;42	ENSP00000353655:H852Y;ENSP00000388221:H360Y;ENSP00000394372:H42Y	ENSP00000353655:H852Y	H	+	1	0	MAN2A2	89257195	1.000000	0.71417	0.795000	0.32087	0.273000	0.26683	5.773000	0.68898	2.635000	0.89317	0.549000	0.68633	CAC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		5	98	0	0	0	0.001168	0	5	98				
VPS33B	26276	broad.mit.edu	37	15	91561108	91561108	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:91561108C>T	ENST00000333371.3	-	2	457	c.104G>A	c.(103-105)gGa>gAa	p.G35E	VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Intron	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	35					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATCCTTTTTTCCAGGAAGCTG	0.498																																							uc002bqp.1		NA																	0				ovary(2)	2						c.(103-105)GGA>GAA		vacuolar protein sorting 33B (yeast homolog))							113.0	98.0	103.0					15																	91561108		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91561108C>T	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.104G>A	15.37:g.91561108C>T	ENSP00000327650:p.Gly35Glu					VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Intron	p.G35E	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			2	458	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		35					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.104G>A	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929879	0.73327	.	.	ENSG00000184056	ENST00000333371	D	0.81996	-1.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	P	0.50192	0.634	T	0.79869	-0.1621	10	0.42905	T	0.14	-2.7457	17.8351	0.88693	0.0:1.0:0.0:0.0	.	35	Q9H267	VP33B_HUMAN	E	35	ENSP00000327650:G35E	ENSP00000327650:G35E	G	-	2	0	VPS33B	89362112	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	5.523000	0.67099	2.573000	0.86826	0.462000	0.41574	GGA		0.498	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		5	98	0	0	0	0.001984	0	5	98				
TARSL2	123283	broad.mit.edu	37	15	102242533	102242533	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:102242533T>C	ENST00000335968.3	-	9	1346	c.1130A>G	c.(1129-1131)tAt>tGt	p.Y377C		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	377					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATATTCCATAGATCCTCTG	0.403																																							uc002bxm.2		NA																	0				ovary(2)	2						c.(1129-1131)TAT>TGT		threonyl-tRNA synthetase-like 2							219.0	187.0	198.0					15																	102242533		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242533T>C	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1130A>G	15.37:g.102242533T>C	ENSP00000338093:p.Tyr377Cys					TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA	p.Y377C	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1185	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		377					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1130A>G	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207605	0.79240	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.48	5.48	0.80851	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94006	0.7280	9	0.87932	D	0	-22.0082	13.5445	0.61695	0.0:0.0:0.0:1.0	.	377	A2RTX5	SYTC2_HUMAN	C	377;282;377	.	ENSP00000329291:Y282C	Y	-	2	0	TARSL2	100060056	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.792000	0.85828	2.084000	0.62774	0.533000	0.62120	TAT		0.403	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		38	113	0	0	0	0.004878	0	38	113				
ITFG3	83986	broad.mit.edu	37	16	313761	313761	+	Missense_Mutation	SNP	G	G	T	rs201772118		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:313761G>T	ENST00000399932.3	+	10	1626	c.1175G>T	c.(1174-1176)gGc>gTc	p.G392V	ITFG3_ENST00000301678.3_Missense_Mutation_p.G392V|ITFG3_ENST00000301679.2_Missense_Mutation_p.G392V|ITFG3_ENST00000450082.2_Missense_Mutation_p.G392V|ITFG3_ENST00000442458.2_Missense_Mutation_p.G392V|ITFG3_ENST00000600536.1_Missense_Mutation_p.G392V	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	392						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AACGGAACTGGCACCGACAGA	0.552																																							uc002cgf.2		NA																	0				central_nervous_system(1)	1						c.(1174-1176)GGC>GTC		integrin alpha FG-GAP repeat containing 3							75.0	82.0	80.0					16																	313761		2008	4174	6182	SO:0001583	missense	83986					integral to membrane		g.chr16:313761G>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1175G>T	16.37:g.313761G>T	ENSP00000382814:p.Gly392Val					ITFG3_uc002cgg.2_Missense_Mutation_p.G392V|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.G392V	p.G392V	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			10	1370	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	392			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.1175G>T	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.83|12.83	2.056619|2.056619	0.36277|0.36277	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000424016|ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082	.|.	.|.	.|.	5.29|5.29	4.33|4.33	0.51752|0.51752	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.196785	.|0.53938	.|D	.|0.000051	T|T	0.76421|0.76421	0.3985|0.3985	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.77557	.|0.975;0.99	T|T	0.78708|0.78708	-0.2099|-0.2099	5|9	.|0.72032	.|D	.|0.01	-16.0881|-16.0881	11.6318|11.6318	0.51181|0.51181	0.0835:0.0:0.9165:0.0|0.0835:0.0:0.9165:0.0	.|.	.|392;392	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	S|V	84|392	.|.	.|ENSP00000301678:G392V	A|G	+|+	1|2	0|0	ITFG3|ITFG3	253762|253762	0.255000|0.255000	0.24002|0.24002	0.182000|0.182000	0.23118|0.23118	0.013000|0.013000	0.08279|0.08279	2.099000|2.099000	0.41767|0.41767	2.478000|2.478000	0.83669|0.83669	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.552	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		26	72	1	0	1.2476e-16	0.00632	1.53986e-16	26	72				
SSTR5	6755	broad.mit.edu	37	16	1129862	1129862	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1129862G>A	ENST00000293897.4	+	1	1082	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SSTR5_ENST00000397547.2_Missense_Mutation_p.A332T|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	332					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGACGCTGACGCCACGGAGCC	0.662																																							uc002ckq.2		NA																	0				lung(1)	1						c.(994-996)GCC>ACC		somatostatin receptor 5	Octreotide(DB00104)						35.0	33.0	34.0					16																	1129862		2183	4293	6476	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129862G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.994G>A	16.37:g.1129862G>A	ENSP00000293897:p.Ala332Thr					LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.A332T	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	1082	+		Hepatocellular(780;0.00369)	332			Cytoplasmic (Potential).		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.994G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	2.655	-0.280964	0.05642	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.71934	-0.61;-0.61	4.49	-0.491	0.12045	.	0.483489	0.20540	U	0.090330	T	0.54191	0.1843	M	0.63428	1.95	0.22896	N	0.998599	P	0.38729	0.644	B	0.26416	0.069	T	0.44251	-0.9340	10	0.21540	T	0.41	.	7.133	0.25512	0.2087:0.5065:0.2848:0.0	.	332	P35346	SSR5_HUMAN	T	332	ENSP00000380680:A332T;ENSP00000293897:A332T	ENSP00000293897:A332T	A	+	1	0	SSTR5	1069863	0.000000	0.05858	0.005000	0.12908	0.039000	0.13416	0.177000	0.16801	0.002000	0.14630	0.561000	0.74099	GCC		0.662	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			23	32	0	0	0	0.002299	0	23	32				
CLCN7	1186	broad.mit.edu	37	16	1499037	1499037	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1499037T>A	ENST00000382745.4	-	19	2332	c.1727A>T	c.(1726-1728)aAc>aTc	p.N576I	LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Missense_Mutation_p.N552I|LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.N552I	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	576					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTAGGTCACGTTGCTGGTGGC	0.622																																							uc002clv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1726-1728)AAC>ATC		chloride channel 7 isoform a							93.0	71.0	78.0					16																	1499037		2198	4300	6498	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1499037T>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1727A>T	16.37:g.1499037T>A	ENSP00000372193:p.Asn576Ile					CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Missense_Mutation_p.N24I|CLCN7_uc002clw.2_Missense_Mutation_p.N552I	p.N576I	NM_001287	NP_001278	P51798	CLCN7_HUMAN			19	1837	-		Hepatocellular(780;0.0893)	576					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1727A>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181847	0.57800	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93712	-3.27;-3.27	5.27	4.17	0.49024	Chloride channel, core (2);	0.040848	0.85682	D	0.000000	D	0.96756	0.8941	M	0.90425	3.115	0.80722	D	1	B;P;D	0.89917	0.151;0.861;1.0	P;P;D	0.85130	0.467;0.877;0.997	D	0.96228	0.9166	10	0.72032	D	0.01	-27.3272	9.9937	0.41887	0.0:0.0811:0.0:0.9189	.	552;576;25	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	I	552;529;576;518	ENSP00000410907:N552I;ENSP00000372193:N576I	ENSP00000262318:N529I	N	-	2	0	CLCN7	1439038	0.998000	0.40836	0.971000	0.41717	0.921000	0.55340	2.777000	0.47717	0.836000	0.34901	0.459000	0.35465	AAC		0.622	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		12	68	0	0	0	0.001368	0	12	68				
IFT140	9742	broad.mit.edu	37	16	1634398	1634398	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1634398C>T	ENST00000426508.2	-	11	1542	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	393					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTTCACTGCCAGCAGGTTCT	0.557																																							uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1177-1179)CTG>CTA		intraflagellar transport 140							40.0	32.0	35.0					16																	1634398		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1634398C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1179G>A	16.37:g.1634398C>T						IFT140_uc002clz.2_Silent_p.L44L	p.L393L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			11	1541	-		Hepatocellular(780;0.219)	393					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.1179G>A	CCDS10439.1																																																																																				0.557	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	29	0	0	0	0.001168	0	6	29				
HS3ST6	64711	broad.mit.edu	37	16	1961980	1961980	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1961980C>G	ENST00000293937.3	-	2	639	c.640G>C	c.(640-642)Ggc>Cgc	p.G214R	HS3ST6_ENST00000454677.2_Missense_Mutation_p.G231R|HS3ST6_ENST00000443547.1_Missense_Mutation_p.G183R			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	214					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCCACGGGGCCCAGGCCGTGG	0.711																																							uc002cnf.2		NA																	0					0						c.(547-549)GGC>CGC		heparan sulfate (glucosamine)							15.0	21.0	19.0					16																	1961980		2140	4271	6411	SO:0001583	missense	64711							g.chr16:1961980C>G			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.640G>C	16.37:g.1961980C>G	ENSP00000293937:p.Gly214Arg						p.G183R	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	547	-			183					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.547G>C		.	.	.	.	.	.	.	.	.	.	C	15.89	2.966889	0.53507	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.54866	0.55;0.55	4.84	4.84	0.62591	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.56124	1.755	0.80722	D	1	P	0.36959	0.575	B	0.43445	0.42	T	0.62690	-0.6801	10	0.66056	D	0.02	.	16.9861	0.86340	0.0:1.0:0.0:0.0	.	214	Q96QI5	HS3S6_HUMAN	R	214;183;253	ENSP00000293937:G214R;ENSP00000390354:G183R	ENSP00000293937:G214R	G	-	1	0	HS3ST6	1901981	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	5.806000	0.69150	2.252000	0.74401	0.505000	0.49811	GGC		0.711	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		42	16	0	0	0	0.007835	0	42	16				
CASKIN1	57524	broad.mit.edu	37	16	2239047	2239047	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2239047C>T	ENST00000343516.6	-	6	690	c.598G>A	c.(598-600)Ggc>Agc	p.G200S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	200					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TCGATGTGGCCGTTTTTAGCT	0.652																																							uc010bsg.1		NA																	0				skin(2)	2						c.(598-600)GGC>AGC		CASK interacting protein 1							79.0	87.0	84.0					16																	2239047		2085	4210	6295	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239047C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.598G>A	16.37:g.2239047C>T	ENSP00000345436:p.Gly200Ser						p.G200S	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			6	630	-			200			ANK 5.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.598G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332597	0.81801	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.77229	-1.08	3.46	3.46	0.39613	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.86276	0.5894	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88018	0.2767	9	0.72032	D	0.01	-24.045	14.0324	0.64624	0.0:1.0:0.0:0.0	.	200	Q8WXD9	CSKI1_HUMAN	S	200;29	ENSP00000345436:G200S	ENSP00000345436:G200S	G	-	1	0	CASKIN1	2179048	1.000000	0.71417	0.968000	0.41197	0.636000	0.38137	7.473000	0.81007	1.954000	0.56735	0.561000	0.74099	GGC		0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		29	114	0	0	0	0.008361	0	29	114				
KCTD5	54442	broad.mit.edu	37	16	2749879	2749879	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2749879A>T	ENST00000301738.4	+	4	585	c.511A>T	c.(511-513)Atg>Ttg	p.M171L	KCTD5_ENST00000564195.1_Missense_Mutation_p.D140V	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	171					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCTCACGCAGATGGTGTCCAC	0.622																																					Ovarian(56;981 1456 4301 50892)	Ovarian(56;981 1456 4301 50892)	uc002crd.2		NA																	0					0						c.(511-513)ATG>TTG		potassium channel tetramerisation domain							166.0	115.0	132.0					16																	2749879		2198	4300	6498	SO:0001583	missense	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2749879A>T	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.511A>T	16.37:g.2749879A>T	ENSP00000301738:p.Met171Leu						p.M171L	NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN			4	566	+			171					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.511A>T	CCDS10475.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169481	0.57584	.	.	ENSG00000167977	ENST00000301738	T	0.51071	0.72	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.67700	2.07	0.58432	D	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.34782	T	0.22	-34.6578	12.6731	0.56878	1.0:0.0:0.0:0.0	.	171	Q9NXV2	KCTD5_HUMAN	L	171	ENSP00000301738:M171L	ENSP00000301738:M171L	M	+	1	0	KCTD5	2689880	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.852000	0.75430	1.880000	0.54463	0.459000	0.35465	ATG		0.622	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		35	104	0	0	0	0.004289	0	35	104				
SRRM2	23524	broad.mit.edu	37	16	2813036	2813036	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2813036C>T	ENST00000301740.8	+	11	3056	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	836	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAAGTCATTCCAGTTCATCT	0.483																																							uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2506-2508)TCC>TTC		splicing coactivator subunit SRm300							199.0	197.0	198.0					16																	2813036		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813036C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2507C>T	16.37:g.2813036C>T	ENSP00000301740:p.Ser836Phe					SRRM2_uc002crj.1_Missense_Mutation_p.S740F|SRRM2_uc002crl.1_Missense_Mutation_p.S836F|SRRM2_uc010bsu.1_Missense_Mutation_p.S740F	p.S836F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3056	+			836			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2507C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.121	1.008938	0.19199	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.38401	1.14	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000037	T	0.44540	0.1298	N	0.14661	0.345	0.38939	D	0.958112	D	0.71674	0.998	D	0.80764	0.994	T	0.54289	-0.8316	10	0.87932	D	0	-7.6555	16.6174	0.84920	0.0:1.0:0.0:0.0	.	836	Q9UQ35	SRRM2_HUMAN	F	836;836;88;801	ENSP00000301740:S836F	ENSP00000301740:S836F	S	+	2	0	SRRM2	2753037	0.962000	0.33011	0.584000	0.28653	0.853000	0.48598	4.265000	0.58865	2.522000	0.85027	0.655000	0.94253	TCC		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			71	334	0	0	0	0.00361	0	71	334				
CREBBP	1387	broad.mit.edu	37	16	3790432	3790432	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:3790432C>G	ENST00000262367.5	-	24	4910	c.4101G>C	c.(4099-4101)aaG>aaC	p.K1367N	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1329N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1367	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCCACCGTCTTGTCTGAGC	0.592			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4099-4101)AAG>AAC		CREB binding protein isoform a							80.0	72.0	75.0					16																	3790432		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3790432C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4101G>C	16.37:g.3790432C>G	ENSP00000262367:p.Lys1367Asn					CREBBP_uc002cvw.2_Missense_Mutation_p.K1329N	p.K1367N	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4305	-		Ovarian(90;0.0266)	1367			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4101G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	16.94	3.260062	0.59321	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.94184	-3.37;-3.37	5.26	4.08	0.47627	.	0.067733	0.64402	D	0.000013	D	0.96747	0.8938	H	0.94925	3.6	0.58432	D	0.999994	D;D	0.71674	0.998;0.998	P;P	0.62184	0.899;0.899	D	0.96554	0.9410	10	0.87932	D	0	-22.6383	9.4581	0.38767	0.0:0.8082:0.0:0.1918	.	1397;1367	Q4LE28;Q92793	.;CBP_HUMAN	N	1367;1397;1329	ENSP00000262367:K1367N;ENSP00000371502:K1329N	ENSP00000262367:K1367N	K	-	3	2	CREBBP	3730433	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.130000	0.50508	2.614000	0.88457	0.555000	0.69702	AAG		0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	92	0	0	0	0.006122	0	15	92				
GLYR1	84656	broad.mit.edu	37	16	4862237	4862237	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:4862237T>A	ENST00000321919.9	-	13	1208	c.1132A>T	c.(1132-1134)Agg>Tgg	p.R378W	GLYR1_ENST00000591451.1_Missense_Mutation_p.R372W|GLYR1_ENST00000381983.3_Missense_Mutation_p.R361W|GLYR1_ENST00000436648.5_Missense_Mutation_p.R297W	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	378					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGCCCCCCCCTGGACACAATC	0.582																																							uc002cxx.3		NA																	0					0						c.(1132-1134)AGG>TGG		cytokine-like nuclear factor n-pac							35.0	36.0	36.0					16																	4862237		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4862237T>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1132A>T	16.37:g.4862237T>A	ENSP00000322716:p.Arg378Trp					GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R292W|GLYR1_uc002cya.2_Missense_Mutation_p.R372W|GLYR1_uc010uxv.1_Missense_Mutation_p.R297W	p.R378W	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			13	1169	-			378					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.1132A>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505435	0.64410	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.71341	-0.24;-0.24;-0.56	4.84	3.73	0.42828	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	M	0.87097	2.86	0.58432	D	0.999999	P;D;P;D	0.76494	0.91;0.999;0.742;0.999	P;D;P;D	0.75020	0.541;0.969;0.515;0.985	D	0.84758	0.0760	10	0.66056	D	0.02	-19.5055	10.2367	0.43288	0.0:0.0:0.3191:0.6809	.	297;372;361;378	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	W	378;361;297	ENSP00000322716:R378W;ENSP00000371413:R361W;ENSP00000390276:R297W	ENSP00000322716:R378W	R	-	1	2	GLYR1	4802238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.533000	0.36040	0.948000	0.37687	0.533000	0.62120	AGG		0.582	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		11	35	0	0	0	0.001368	0	11	35				
NUBP1	4682	broad.mit.edu	37	16	10855248	10855248	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:10855248G>C	ENST00000283027.5	+	8	653	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q	NUBP1_ENST00000433392.2_Missense_Mutation_p.E201Q|TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TGTCCGGAAAGAAATCAACTT	0.542																																							uc002daa.1		NA																	0				ovary(1)|skin(1)	2						c.(634-636)GAA>CAA		nucleotide binding protein 1							111.0	97.0	102.0					16																	10855248		2197	4300	6497	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855248G>C	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.634G>C	16.37:g.10855248G>C	ENSP00000283027:p.Glu212Gln					FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_RNA|NUBP1_uc010bum.1_Missense_Mutation_p.E77Q|NUBP1_uc002dab.1_Missense_Mutation_p.E201Q	p.E212Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN			8	657	+			212						Missense_Mutation	SNP	ENST00000283027.5	37	c.634G>C	CCDS10543.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750405	0.89753	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.39997	1.05;1.05	5.37	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.86178	2.8	0.80722	D	1	D;D	0.69078	0.997;0.991	P;D	0.63283	0.902;0.913	T	0.71133	-0.4681	10	0.66056	D	0.02	-14.8206	13.3501	0.60597	0.0759:0.0:0.9241:0.0	.	201;212	P53384-2;P53384	.;NUBP1_HUMAN	Q	212;201	ENSP00000283027:E212Q;ENSP00000409654:E201Q	ENSP00000283027:E212Q	E	+	1	0	NUBP1	10762749	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.611000	0.98342	1.253000	0.44018	0.655000	0.94253	GAA		0.542	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		6	94	0	0	0	0.001168	0	6	94				
TNP2	7142	broad.mit.edu	37	16	11362792	11362792	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:11362792C>G	ENST00000312693.3	-	1	397	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	110					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGCTTGCCTTCCAAGTTCTTT	0.537																																							uc002das.2		NA																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(328-330)GAA>CAA		transition protein 2 (during histone to							75.0	75.0	75.0					16																	11362792		1949	4151	6100	SO:0001583	missense	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362792C>G		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.328G>C	16.37:g.11362792C>G	ENSP00000325738:p.Glu110Gln					C16orf75_uc002daq.1_Intron	p.E110Q	NM_005425	NP_005416	Q05952	STP2_HUMAN			1	369	-			110					Q9NZB0	Missense_Mutation	SNP	ENST00000312693.3	37	c.328G>C	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006335	0.07773	.	.	ENSG00000178279	ENST00000312693	T	0.59224	0.28	3.69	0.704	0.18121	.	0.732309	0.11186	N	0.590383	T	0.52821	0.1758	L	0.47190	1.495	0.09310	N	1	P	0.43287	0.802	P	0.46419	0.516	T	0.45249	-0.9274	10	0.66056	D	0.02	-0.0841	5.6679	0.17704	0.0:0.6476:0.0:0.3524	.	110	Q05952	STP2_HUMAN	Q	110	ENSP00000325738:E110Q	ENSP00000325738:E110Q	E	-	1	0	TNP2	11270293	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.253000	0.18296	0.185000	0.20105	0.650000	0.86243	GAA		0.537	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		3	110	0	0	0	0.004672	0	3	110				
NPIPA1	9284	broad.mit.edu	37	16	15023187	15023188	+	3'UTR	DNP	GG	GG	TT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:15023187_15023188GG>TT	ENST00000472413.1	+	0	1966_1967							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CATCGCGGATGGTGGCGTCCCA	0.668																																							uc010uzk.1		NA																	0					NA						c.(754-759)ATGGTG>ATTTTG		SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																																				SO:0001624	3_prime_UTR_variant	0							g.chr16:15023187_15023188GG>TT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	Exception_encountered	16.37:g.15023187_15023188delinsTT						NPIP_uc002dcx.3_RNA	p.252_253MV>IL							6	1032_1033	+								O15102	Missense_Mutation	DNP	ENST00000472413.1	37	c.756_757GG>TT																																																																																					0.668	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000207327.1	NM_006985		10	7	0	0	0	0.004672	0	10	7				
MYH11	4629	broad.mit.edu	37	16	15844070	15844070	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:15844070C>A	ENST00000300036.5	-	16	2092	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	MYH11_ENST00000396324.3_Silent_p.L668L|MYH11_ENST00000576790.2_Silent_p.L661L|MYH11_ENST00000452625.2_Silent_p.L668L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	661	Actin-binding. {ECO:0000250}.|Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAGCTTGCCCAGCTGCTCCT	0.632			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1981-1983)CTG>CTT		smooth muscle myosin heavy chain 11 isoform							157.0	119.0	132.0					16																	15844070		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844070C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1983G>T	16.37:g.15844070C>A						MYH11_uc002ddv.2_Silent_p.L668L|MYH11_uc002ddw.2_Silent_p.L661L|MYH11_uc002ddx.2_Silent_p.L668L|MYH11_uc010bvg.2_Silent_p.L493L|MYH11_uc002dea.1_Silent_p.L367L	p.L661L	NM_002474	NP_002465	P35749	MYH11_HUMAN			16	2090	-			661			Myosin head-like.|Actin-binding (By similarity).		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1983G>T	CCDS10565.1																																																																																				0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		60	68	1	0	9.40535e-28	0.00361	1.29638e-27	60	68				
ACSM2A	123876	broad.mit.edu	37	16	20480947	20480947	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20480947G>C	ENST00000573854.1	+	4	616	c.502G>C	c.(502-504)Gac>Cac	p.D168H	ACSM2A_ENST00000219054.6_Missense_Mutation_p.D168H|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D89H|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D168H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D168H|ACSM2A_ENST00000424070.1_Missense_Mutation_p.D168H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	168					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCAAGAAGTGGACACAGTGGC	0.453																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(502-504)GAC>CAC		acyl-CoA synthetase medium-chain family member							97.0	96.0	96.0					16																	20480947		2203	4297	6500	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20480947G>C	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.502G>C	16.37:g.20480947G>C	ENSP00000459451:p.Asp168His					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.D89H|ACSM2A_uc002dhf.3_Missense_Mutation_p.D168H|ACSM2A_uc002dhg.3_Missense_Mutation_p.D168H|ACSM2A_uc010vay.1_Missense_Mutation_p.D89H	p.D168H	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			5	741	+			168					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.502G>C	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476296	0.44044	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.04	4.04	0.47022	AMP-dependent synthetase/ligase (1);	0.000000	0.46442	D	0.000295	T	0.64416	0.2596	M	0.78637	2.42	0.45403	D	0.99838	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.70691	-0.4802	10	0.66056	D	0.02	-24.3153	14.9983	0.71451	0.0:0.0:1.0:0.0	.	89;168	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	H	89;168;168;168	ENSP00000392169:D89H;ENSP00000219054:D168H;ENSP00000394904:D168H;ENSP00000379411:D168H	ENSP00000219054:D168H	D	+	1	0	ACSM2A	20388448	1.000000	0.71417	0.902000	0.35471	0.096000	0.18686	5.605000	0.67634	1.806000	0.52798	0.298000	0.19748	GAC		0.453	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		42	198	0	0	0	0.00361	0	42	198				
ACSM2A	123876	broad.mit.edu	37	16	20487072	20487072	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20487072G>A	ENST00000573854.1	+	8	1189	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ACSM2A_ENST00000219054.6_Missense_Mutation_p.E359K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E131K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E280K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E359K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E359K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	359					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGACATCCGAGAATCCTATGG	0.488																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1075-1077)GAA>AAA		acyl-CoA synthetase medium-chain family member							154.0	160.0	158.0					16																	20487072		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20487072G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1075G>A	16.37:g.20487072G>A	ENSP00000459451:p.Glu359Lys					ACSM2A_uc010vax.1_Missense_Mutation_p.E280K|ACSM2A_uc002dhf.3_Missense_Mutation_p.E359K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E359K|ACSM2A_uc010vay.1_Missense_Mutation_p.E280K|ACSM2A_uc002dhh.3_5'UTR	p.E359K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1314	+			359			ATP.		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1075G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424285	0.62733	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	3.76	3.76	0.43208	AMP-dependent synthetase/ligase (1);	0.000000	0.48286	D	0.000186	T	0.72581	0.3478	M	0.90252	3.1	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.67548	0.924;0.952	T	0.81111	-0.1081	10	0.87932	D	0	-23.3582	15.5854	0.76479	0.0:0.0:1.0:0.0	.	280;359	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	280;359;131;359	ENSP00000392169:E280K;ENSP00000219054:E359K;ENSP00000445082:E131K;ENSP00000379411:E359K	ENSP00000219054:E359K	E	+	1	0	ACSM2A	20394573	1.000000	0.71417	0.963000	0.40424	0.244000	0.25665	7.394000	0.79862	1.809000	0.52856	0.298000	0.19748	GAA		0.488	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		51	317	0	0	0	0.00361	0	51	317				
ACSM2A	123876	broad.mit.edu	37	16	20492161	20492161	+	Missense_Mutation	SNP	C	C	G	rs75603553	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20492161C>G	ENST00000573854.1	+	12	1541	c.1427C>G	c.(1426-1428)tCg>tGg	p.S476W	ACSM2A_ENST00000219054.6_Missense_Mutation_p.S476W|ACSM2A_ENST00000536134.1_Missense_Mutation_p.S248W|ACSM2A_ENST00000417235.2_Missense_Mutation_p.S397W|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S476W|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S476W	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATTGGACCCTCGGAGGTAGAG	0.567																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(1426-1428)TCG>TGG		acyl-CoA synthetase medium-chain family member							103.0	93.0	96.0					16																	20492161		2203	4299	6502	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492161C>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1427C>G	16.37:g.20492161C>G	ENSP00000459451:p.Ser476Trp					ACSM2A_uc010vax.1_Missense_Mutation_p.S397W|ACSM2A_uc002dhf.3_Missense_Mutation_p.S476W|ACSM2A_uc002dhg.3_Missense_Mutation_p.S476W|ACSM2A_uc010vay.1_Missense_Mutation_p.S397W|ACSM2A_uc002dhh.3_Missense_Mutation_p.S106W	p.S476W	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			13	1666	+			476					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1427C>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365968	0.41902	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	3.26	2.17	0.27698	AMP-dependent synthetase/ligase (1);	1.192460	0.06372	N	0.713684	T	0.60301	0.2258	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.75020	0.985;0.846	T	0.63475	-0.6629	10	0.87932	D	0	-0.0041	2.8666	0.05603	0.0:0.4574:0.2526:0.2899	.	397;476	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	W	397;476;248;476	ENSP00000392169:S397W;ENSP00000219054:S476W;ENSP00000445082:S248W;ENSP00000379411:S476W	ENSP00000219054:S476W	S	+	2	0	ACSM2A	20399662	0.132000	0.22450	0.995000	0.50966	0.794000	0.44872	0.811000	0.27198	1.560000	0.49568	0.289000	0.19496	TCG		0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		20	116	0	0	0	0.012319	0	20	116				
ACSM3	6296	broad.mit.edu	37	16	20793094	20793094	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20793094A>G	ENST00000289416.5	+	7	1479	c.1004A>G	c.(1003-1005)cAg>cGg	p.Q335R	ACSM3_ENST00000440284.2_Missense_Mutation_p.Q335R|RNU6-944P_ENST00000364023.1_RNA|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.Q327R	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	335					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTTGTACAGAATGATATA	0.393																																							uc002dhr.2		NA																	0				ovary(1)	1						c.(1003-1005)CAG>CGG		SA hypertension-associated homolog isoform 1							102.0	95.0	97.0					16																	20793094		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20793094A>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1004A>G	16.37:g.20793094A>G	ENSP00000289416:p.Gln335Arg					ACSM3_uc002dhq.2_Missense_Mutation_p.Q335R|ACSM3_uc010vba.1_Missense_Mutation_p.Q364R|ERI2_uc002dhs.2_Intron	p.Q335R	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			7	1191	+			335					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1004A>G	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771729	0.31320	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.48201	0.82;0.82;0.82	5.67	3.17	0.36434	AMP-dependent synthetase/ligase (1);	0.304109	0.31542	N	0.007467	T	0.34600	0.0903	L	0.28776	0.89	0.39810	D	0.972681	B;B;B	0.23937	0.045;0.029;0.094	B;B;B	0.32022	0.139;0.094;0.095	T	0.18023	-1.0350	10	0.39692	T	0.17	-0.0513	6.7827	0.23654	0.7108:0.0:0.073:0.2162	.	327;335;335	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	R	335;335;327	ENSP00000289416:Q335R;ENSP00000394565:Q335R;ENSP00000395297:Q327R	ENSP00000289416:Q335R	Q	+	2	0	ACSM3	20700595	0.860000	0.29831	0.935000	0.37517	0.956000	0.61745	2.312000	0.43726	1.090000	0.41315	0.533000	0.62120	CAG		0.393	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		36	55	0	0	0	0.004878	0	36	55				
METTL9	51108	broad.mit.edu	37	16	21611105	21611105	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:21611105G>A	ENST00000358154.3	+	1	309	c.51G>A	c.(49-51)ctG>ctA	p.L17L	METTL9_ENST00000396014.4_Silent_p.L17L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	17										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CCGTGTGGCTGGCGCGGAGGA	0.766																																							uc002dje.2		NA																	0				ovary(1)	1						c.(49-51)CTG>CTA		methyltransferase like 9 isoform 1							6.0	8.0	8.0					16																	21611105		1896	3875	5771	SO:0001819	synonymous_variant	51108							g.chr16:21611105G>A	NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.51G>A	16.37:g.21611105G>A						uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.L17L	p.L17L	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN		GBM - Glioblastoma multiforme(48;0.0759)	1	250	+			17					Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Silent	SNP	ENST00000358154.3	37	c.51G>A	CCDS10598.2																																																																																				0.766	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1	NM_016025		5	22	0	0	0	0.000602	0	5	22				
VWA3A	146177	broad.mit.edu	37	16	22163858	22163858	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:22163858T>A	ENST00000389398.5	+	31	3404	c.3308T>A	c.(3307-3309)cTg>cAg	p.L1103Q	VWA3A_ENST00000563755.1_Missense_Mutation_p.L205Q|VWA3A_ENST00000389397.4_Missense_Mutation_p.L205Q	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1103	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGAGAAAGCTGGCTTCCTTC	0.562																																							uc010vbq.1		NA																	0				skin(1)	1						c.(3307-3309)CTG>CAG		von Willebrand factor A domain containing 3A							37.0	39.0	38.0					16																	22163858		2031	4185	6216	SO:0001583	missense	146177					extracellular region		g.chr16:22163858T>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3308T>A	16.37:g.22163858T>A	ENSP00000374049:p.Leu1103Gln					VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.L181Q|VWA3A_uc010bxe.1_Missense_Mutation_p.L205Q	p.L1103Q	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	31	3404	+			1103			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.3308T>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749455	0.69533	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.28255	1.62;1.62	5.41	5.41	0.78517	von Willebrand factor, type A (3);	0.201631	0.32473	N	0.006051	T	0.64327	0.2588	M	0.92833	3.35	0.46678	D	0.999152	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73739	-0.3888	10	0.87932	D	0	.	13.6816	0.62489	0.0:0.0:0.0:1.0	.	1103;205	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	Q	1103;205;726	ENSP00000374049:L1103Q;ENSP00000374048:L205Q	ENSP00000299840:L726Q	L	+	2	0	VWA3A	22071359	1.000000	0.71417	0.865000	0.33974	0.687000	0.40016	5.506000	0.66993	2.178000	0.69098	0.533000	0.62120	CTG		0.562	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			7	26	0	0	0	0.004482	0	7	26				
ERN2	10595	broad.mit.edu	37	16	23713772	23713772	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:23713772G>T	ENST00000457008.2	-	10	1058	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	ERN2_ENST00000256797.4_Silent_p.P388P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGCAGTGCTGGGTGAGCCCT	0.577																																							uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1162-1164)CCC>CCA		endoplasmic reticulum to nucleus signalling 2							107.0	113.0	111.0					16																	23713772		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23713772G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1020C>A	16.37:g.23713772G>T						ERN2_uc010bxp.2_Silent_p.P388P|ERN2_uc010bxq.1_Silent_p.P196P	p.P388P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	10	1333	-			340			Lumenal (Potential).			Silent	SNP	ENST00000457008.2	37	c.1164C>A																																																																																					0.577	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			142	154	1	0	1.89244e-60	0.00361	2.91603e-60	142	154				
TNRC6A	27327	broad.mit.edu	37	16	24804935	24804935	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:24804935C>G	ENST00000395799.3	+	7	3446	c.3317C>G	c.(3316-3318)tCc>tGc	p.S1106C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1106C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1106	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACGTGGGGCTCCAGCTCTGTT	0.502																																							uc002dmm.2		NA																	0				ovary(2)	2						c.(3316-3318)TCC>TGC		trinucleotide repeat containing 6A							84.0	85.0	85.0					16																	24804935		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24804935C>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3317C>G	16.37:g.24804935C>G	ENSP00000379144:p.Ser1106Cys					TNRC6A_uc010bxs.2_Missense_Mutation_p.S853C|TNRC6A_uc010vcc.1_Missense_Mutation_p.S853C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S853C|TNRC6A_uc002dmo.2_Intron	p.S1106C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	7	3431	+			1106			Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.3317C>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062792	0.55432	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.48201	0.82;0.82	6.06	4.03	0.46877	Argonaute hook domain (1);	0.380726	0.30401	N	0.009705	T	0.48572	0.1507	L	0.49126	1.545	0.80722	D	1	D;D	0.60160	0.968;0.987	P;P	0.54499	0.754;0.75	T	0.52457	-0.8573	10	0.72032	D	0.01	0.0036	3.9073	0.09188	0.2857:0.4306:0.2103:0.0734	.	853;1106	Q8NDV7-2;Q8NDV7	.;TNR6A_HUMAN	C	1106	ENSP00000326900:S1106C;ENSP00000379144:S1106C	ENSP00000326900:S1106C	S	+	2	0	TNRC6A	24712436	0.998000	0.40836	1.000000	0.80357	0.610000	0.37248	1.175000	0.31944	1.583000	0.49898	-0.142000	0.14014	TCC		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		22	184	0	0	0	0.012319	0	22	184				
GTF3C1	2975	broad.mit.edu	37	16	27472818	27472818	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:27472818G>A	ENST00000356183.4	-	37	6198	c.6183C>T	c.(6181-6183)ttC>ttT	p.F2061F	GTF3C1_ENST00000561623.1_Silent_p.F2036F|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2061					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGGGTGTAGAGAAGAGCGAGA	0.627																																							uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6181-6183)TTC>TTT		general transcription factor IIIC, polypeptide							102.0	88.0	93.0					16																	27472818		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472818G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6183C>T	16.37:g.27472818G>A						GTF3C1_uc002dou.2_Silent_p.F2036F	p.F2061F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			37	6223	-			2061					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.6183C>T	CCDS32414.1																																																																																				0.627	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		83	111	0	0	0	0.00361	0	83	111				
ITGAM	3684	broad.mit.edu	37	16	31336590	31336590	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:31336590C>A	ENST00000287497.8	+	20	2445	c.2370C>A	c.(2368-2370)gaC>gaA	p.D790E	ITGAM_ENST00000544665.3_Missense_Mutation_p.D791E			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	790					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACAGCCTGGACTGCCTCGTGG	0.597																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(2368-2370)GAC>GAA		integrin alpha M isoform 2 precursor							49.0	51.0	50.0					16																	31336590		2034	4190	6224	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336590C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2370C>A	16.37:g.31336590C>A	ENSP00000287497:p.Asp790Glu					ITGAM_uc002ebr.2_Missense_Mutation_p.D791E|ITGAM_uc010can.2_Missense_Mutation_p.D196E|ITGAM_uc002ebs.1_Missense_Mutation_p.D196E|ITGAM_uc010vfj.1_RNA	p.D790E	NM_000632	NP_000623	P11215	ITAM_HUMAN			20	2468	+			790			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2370C>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.401017	0.11696	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.39592	1.07;1.07	5.03	-4.85	0.03142	Integrin alpha-2 (1);	.	.	.	.	T	0.23886	0.0578	L	0.50919	1.6	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.003	B;B;B	0.15870	0.014;0.006;0.006	T	0.38286	-0.9668	9	0.09338	T	0.73	.	0.2166	0.00163	0.2683:0.2734:0.1844:0.2739	.	196;790;790	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	E	791;790	ENSP00000441691:D791E;ENSP00000287497:D790E	ENSP00000287497:D790E	D	+	3	2	ITGAM	31244091	0.001000	0.12720	0.003000	0.11579	0.717000	0.41224	-0.441000	0.06879	-0.445000	0.07159	-0.181000	0.13052	GAC		0.597	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		10	48	1	0	1.58986e-06	0.008291	1.70841e-06	10	48				
SHCBP1	79801	broad.mit.edu	37	16	46633756	46633756	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:46633756T>A	ENST00000303383.3	-	9	1598	c.1332A>T	c.(1330-1332)gtA>gtT	p.V444V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	444					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGATTCCCTCTACAGCATCAT	0.358																																							uc002eec.3		NA																	0				ovary(1)|breast(1)	2						c.(1330-1332)GTA>GTT		SHC SH2-domain binding protein 1							91.0	86.0	88.0					16																	46633756		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46633756T>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1332A>T	16.37:g.46633756T>A							p.V444V	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			9	1372	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	444			PbH1 1.		Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1332A>T	CCDS10720.1																																																																																				0.358	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		28	33	0	0	0	0.010818	0	28	33				
MMP2	4313	broad.mit.edu	37	16	55516994	55516994	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:55516994C>T	ENST00000219070.4	+	2	836	c.327C>T	c.(325-327)aaC>aaT	p.N109N	MMP2_ENST00000570308.1_Silent_p.N33N|MMP2_ENST00000437642.2_Silent_p.N59N|MMP2_ENST00000543485.1_Silent_p.N33N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	109					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ATGTGGCCAACTACAACTTCT	0.582																																							uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(325-327)AAC>AAT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						106.0	98.0	101.0					16																	55516994		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55516994C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.327C>T	16.37:g.55516994C>T						MMP2_uc010vhd.1_Silent_p.N33N|MMP2_uc010ccc.2_Silent_p.N59N	p.N109N	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	2	638	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	109					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.327C>T	CCDS10752.1																																																																																				0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			25	121	0	0	0	0.004656	0	25	121				
MMP2	4313	broad.mit.edu	37	16	55519238	55519238	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:55519238G>T	ENST00000219070.4	+	4	1066	c.557G>T	c.(556-558)gGt>gTt	p.G186V	MMP2_ENST00000570308.1_Missense_Mutation_p.G110V|MMP2_ENST00000437642.2_Missense_Mutation_p.G136V|MMP2_ENST00000543485.1_Missense_Mutation_p.G110V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	186	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.G186fs*16(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCCTTTGACGGTAAGGACGGA	0.562																																							uc002ehz.3		NA																	1	Deletion - Frameshift(1)		breast(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(556-558)GGT>GTT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						163.0	135.0	145.0					16																	55519238		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519238G>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.557G>T	16.37:g.55519238G>T	ENSP00000219070:p.Gly186Val					MMP2_uc010vhd.1_Missense_Mutation_p.G110V|MMP2_uc010ccc.2_Missense_Mutation_p.G136V	p.G186V	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	4	868	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	186			Collagenase-like 1.	Calcium 3; via carbonyl oxygen (By similarity).	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.557G>T	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552376	0.86127	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.28666	1.6;1.6;1.6	4.77	4.77	0.60923	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.70008	-0.4990	10	0.87932	D	0	.	17.7946	0.88566	0.0:0.0:1.0:0.0	.	136;186	E9PE45;P08253	.;MMP2_HUMAN	V	186;110;136	ENSP00000219070:G186V;ENSP00000444143:G110V;ENSP00000394237:G136V	ENSP00000219070:G186V	G	+	2	0	MMP2	54076739	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	9.859000	0.99545	2.194000	0.70268	0.544000	0.68410	GGT		0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			79	93	1	0	2.84431e-33	0.00361	4.05149e-33	79	93				
MT1H	4496	broad.mit.edu	37	16	56704873	56704873	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:56704873C>G	ENST00000332374.4	+	3	229	c.158C>G	c.(157-159)gCg>gGg	p.A53G	MT1H_ENST00000569155.1_3'UTR|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	53	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A53V(2)		lung(5)	5						TGCAAAGGGGCGTCAGAGAAG	0.532																																							uc002ejw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(157-159)GCG>GGG		metallothionein 1H							107.0	100.0	103.0					16																	56704873		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56704873C>G	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.158C>G	16.37:g.56704873C>G	ENSP00000330587:p.Ala53Gly					MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	p.A53G	NM_005951	NP_005942	P80294	MT1H_HUMAN			3	229	+			53			Alpha.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.158C>G	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	C	5.647	0.303939	0.10678	.	.	ENSG00000205358	ENST00000332374	T	0.08458	3.09	2.6	1.62	0.23740	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.364113	0.24856	U	0.035060	T	0.05731	0.0150	.	.	.	0.26408	N	0.976309	B	0.30686	0.29	B	0.26693	0.072	T	0.30060	-0.9991	9	0.49607	T	0.09	5.5811	5.8878	0.18892	0.0:0.8339:0.0:0.1661	.	53	P80294	MT1H_HUMAN	G	53	ENSP00000330587:A53G	ENSP00000330587:A53G	A	+	2	0	MT1H	55262374	0.331000	0.24713	0.767000	0.31495	0.017000	0.09413	1.752000	0.38349	0.206000	0.20587	-0.698000	0.03680	GCG		0.532	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		12	126	0	0	0	0.00245	0	12	126				
ZNF319	57567	broad.mit.edu	37	16	58030659	58030659	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:58030659T>G	ENST00000299237.2	-	2	2133	c.1511A>C	c.(1510-1512)cAc>cCc	p.H504P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TACCCGCCGGTGCCGCTGCAG	0.637																																							uc002emx.1		NA																	0					0						c.(1510-1512)CAC>CCC		zinc finger protein 319							47.0	39.0	42.0					16																	58030659		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030659T>G	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1511A>C	16.37:g.58030659T>G	ENSP00000299237:p.His504Pro						p.H504P	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	2134	-			504			C2H2-type 14.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1511A>C	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985851	0.35036	.	.	ENSG00000166188	ENST00000299237	D	0.86865	-2.18	5.21	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	H	0.95712	3.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94634	0.7824	10	0.87932	D	0	-20.4757	10.6553	0.45671	0.1435:0.0:0.0:0.8565	.	504	Q9P2F9	ZN319_HUMAN	P	504	ENSP00000299237:H504P	ENSP00000299237:H504P	H	-	2	0	ZNF319	56588160	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	8.026000	0.88783	0.787000	0.33731	0.533000	0.62120	CAC		0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			15	13	0	0	0	0.003163	0	15	13				
CMTM1	113540	broad.mit.edu	37	16	66612833	66612833	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:66612833G>A	ENST00000457188.2	+	4	560	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CMTM2_ENST00000379486.2_5'Flank|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000533953.1_Missense_Mutation_p.E216K|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Missense_Mutation_p.E48K|CMTM1_ENST00000328020.6_3'UTR|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000531885.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.E93K|CMTM1_ENST00000336328.6_Missense_Mutation_p.E94K|CMTM1_ENST00000379500.2_Missense_Mutation_p.E264K|CMTM1_ENST00000332695.7_Missense_Mutation_p.E100K|CMTM1_ENST00000528324.1_3'UTR	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	147					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGTCGAAGTTGAAAGGAAGCT	0.607																																							uc002epi.3		NA																	0					0						c.(439-441)GAA>AAA		chemokine-like factor superfamily 1 isoform 1							135.0	120.0	125.0					16																	66612833		2201	4300	6501	SO:0001583	missense	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66612833G>A	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.439G>A	16.37:g.66612833G>A	ENSP00000405729:p.Glu147Lys					CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.E100K|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.E94K|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.E264K|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	p.E147K	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	4	562	+		Ovarian(137;0.0563)	147					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	c.439G>A	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	G	9.471	1.095624	0.20471	.	.	ENSG00000254788;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505;ENSG00000089505	ENST00000527729;ENST00000332695;ENST00000336328;ENST00000457188;ENST00000533953;ENST00000379500	T;T;T;T;T	0.55760	0.57;0.59;1.75;0.5;1.78	3.04	-0.466	0.12153	.	3.711600	0.01284	N	0.009829	T	0.42966	0.1226	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24576	0.05;0.106;0.039;0.106	B;B;B;B	0.26416	0.047;0.042;0.042;0.069	T	0.09662	-1.0664	10	0.20519	T	0.43	-0.004	5.6658	0.17695	0.4365:0.0:0.5635:0.0	.	264;100;94;147	Q6PEV5;Q8IZ96-5;Q8IZ96-6;Q8IZ96	.;.;.;CKLF1_HUMAN	K	93;100;94;147;216;264	ENSP00000331428:E100K;ENSP00000337119:E94K;ENSP00000405729:E147K;ENSP00000435786:E216K;ENSP00000368814:E264K	ENSP00000433998:E93K	E	+	1	0	CMTM1;CKLF-CMTM1	65170334	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.920000	0.04013	-0.045000	0.13468	0.561000	0.74099	GAA		0.607	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		35	168	0	0	0	0.004289	0	35	168				
FUK	197258	broad.mit.edu	37	16	70497154	70497154	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:70497154A>T	ENST00000288078.6	+	2	293	c.61A>T	c.(61-63)Agt>Tgt	p.S21C	FUK_ENST00000378912.2_Missense_Mutation_p.S21C|FUK_ENST00000428974.2_Missense_Mutation_p.S21C|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	21						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTACAAGGACAGTGTCCAGGT	0.572																																							uc002eyy.2		NA																	0				ovary(1)	1						c.(61-63)AGT>TGT		fucokinase							84.0	91.0	89.0					16																	70497154		1982	4160	6142	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70497154A>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.61A>T	16.37:g.70497154A>T	ENSP00000288078:p.Ser21Cys					FUK_uc010vmb.1_Missense_Mutation_p.S21C|FUK_uc010cft.2_Missense_Mutation_p.S21C|FUK_uc002eyz.2_Intron	p.S21C	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			2	119	+		Ovarian(137;0.0694)	21					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.61A>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547880	0.65311	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.49720	3.17;3.11;0.77	4.9	3.79	0.43588	.	0.053621	0.64402	N	0.000001	T	0.58221	0.2107	L	0.57536	1.79	0.36394	D	0.862705	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.921;0.992;0.994	T	0.62784	-0.6781	10	0.44086	T	0.13	-7.6144	5.742	0.18100	0.7645:0.0:0.084:0.1515	.	21;21;21	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	C	21	ENSP00000288078:S21C;ENSP00000368192:S21C;ENSP00000408007:S21C	ENSP00000288078:S21C	S	+	1	0	FUK	69054655	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.102000	0.50291	0.814000	0.34374	0.397000	0.26171	AGT		0.572	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		46	33	0	0	0	0.00361	0	46	33				
HYDIN	54768	broad.mit.edu	37	16	70908800	70908800	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:70908800T>A	ENST00000393567.2	-	63	10730	c.10580A>T	c.(10579-10581)gAg>gTg	p.E3527V	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3527					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCTAGCTCATCCTGCAG	0.522																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(10576-10578)GAG>GTG		hydrocephalus inducing isoform a							28.0	26.0	26.0					16																	70908800		1819	4063	5882	SO:0001583	missense	54768							g.chr16:70908800T>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10580A>T	16.37:g.70908800T>A	ENSP00000377197:p.Glu3527Val						p.E3526V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			63	10705	-		Ovarian(137;0.0654)	3527					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10577A>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	7.164	0.586367	0.13749	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00986	5.47	4.66	2.28	0.28536	.	0.590157	0.12416	U	0.470885	T	0.00906	0.0030	N	0.25647	0.755	0.09310	N	1	B	0.22346	0.068	B	0.26614	0.071	T	0.48222	-0.9054	10	0.32370	T	0.25	.	6.1027	0.20057	0.0:0.0875:0.1607:0.7518	.	3526	F8WD23	.	V	3527;3526	ENSP00000377197:E3527V	ENSP00000313052:E3526V	E	-	2	0	HYDIN	69466301	0.956000	0.32656	0.799000	0.32177	0.017000	0.09413	1.574000	0.36482	0.579000	0.29504	0.418000	0.28097	GAG		0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			21	11	0	0	0	0.00632	0	21	11				
ZFHX3	463	broad.mit.edu	37	16	72830446	72830446	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:72830446T>G	ENST00000268489.5	-	9	6807	c.6135A>C	c.(6133-6135)ccA>ccC	p.P2045P	ZFHX3_ENST00000397992.5_Silent_p.P1131P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2045	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGGAGGGGGTGGAGGGGGAG	0.632																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(6133-6135)CCA>CCC		zinc finger homeobox 3 isoform A							23.0	32.0	29.0					16																	72830446		2158	4173	6331	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830446T>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6135A>C	16.37:g.72830446T>G						ZFHX3_uc002fcl.2_Silent_p.P1131P	p.P2045P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	6808	-		Ovarian(137;0.13)	2045			Poly-Pro.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6135A>C	CCDS10908.1																																																																																				0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	83	0	0	0	0.002299	0	11	83				
ZNRF1	84937	broad.mit.edu	37	16	75127513	75127513	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:75127513G>C	ENST00000335325.4	+	2	1110	c.468G>C	c.(466-468)gaG>gaC	p.E156D	ZNRF1_ENST00000566250.1_Missense_Mutation_p.E156D|ZNRF1_ENST00000320619.6_Missense_Mutation_p.E156D|ZNRF1_ENST00000567962.1_Missense_Mutation_p.E156D|ZNRF1_ENST00000564320.1_3'UTR	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	156					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CTTCTGACGAGATGGAAATGC	0.502																																							uc002fdk.2		NA																	0					0						c.(466-468)GAG>GAC		zinc and ring finger protein 1							183.0	155.0	165.0					16																	75127513		2198	4300	6498	SO:0001583	missense	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75127513G>C	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.468G>C	16.37:g.75127513G>C	ENSP00000335091:p.Glu156Asp					ZNRF1_uc010vmz.1_Missense_Mutation_p.E156D|ZNRF1_uc002fdl.1_Missense_Mutation_p.E156D|ZNRF1_uc010cgr.1_Missense_Mutation_p.E156D	p.E156D	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN			2	1123	+			156					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.468G>C	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709595	0.30322	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.53423	0.62	5.9	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	N	0.16708	0.43	0.58432	D	0.999996	D;B;P	0.56035	0.974;0.257;0.956	D;B;P	0.67725	0.953;0.204;0.899	T	0.42666	-0.9438	10	0.27082	T	0.32	-16.9836	11.9733	0.53075	0.1487:0.0:0.8513:0.0	.	156;156;156	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	D	156	ENSP00000335091:E156D	ENSP00000323362:E156D	E	+	3	2	ZNRF1	73685014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	1.326000	0.45319	0.650000	0.86243	GAG		0.502	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			43	31	0	0	0	0.013114	0	43	31				
BCO1	53630	broad.mit.edu	37	16	81320966	81320966	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:81320966G>A	ENST00000258168.2	+	10	1830	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E388K	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTGGCCAGCGGAACCCCTGTT	0.493																																							uc002fgn.1		NA																	0					0						c.(1369-1371)GAA>AAA		beta-carotene 15,15'-monooxygenase							75.0	75.0	75.0					16																	81320966		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81320966G>A																												ENST00000258168.2:c.1369G>A	16.37:g.81320966G>A	ENSP00000258168:p.Glu457Lys					BCMO1_uc010vnp.1_Missense_Mutation_p.E388K	p.E457K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			10	1587	+			457						Missense_Mutation	SNP	ENST00000258168.2	37	c.1369G>A	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321907	0.81580	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.99089	-5.41;-5.41	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.986	D	0.98452	1.0592	10	0.87932	D	0	-37.7935	19.4436	0.94836	0.0:0.0:1.0:0.0	.	388;457	E7EM88;Q9HAY6	.;BCDO1_HUMAN	K	457;388	ENSP00000258168:E457K;ENSP00000400586:E388K	ENSP00000258168:E457K	E	+	1	0	BCMO1	79878467	1.000000	0.71417	0.374000	0.26016	0.316000	0.28119	7.844000	0.86867	2.894000	0.99253	0.591000	0.81541	GAA		0.493	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			4	106	0	0	0	0.001984	0	4	106				
MPHOSPH6	10200	broad.mit.edu	37	16	82182995	82182995	+	Missense_Mutation	SNP	T	T	A	rs528242898		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:82182995T>A	ENST00000258169.4	-	4	319	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.Q61L	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	90					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						AGCATTCATCTGAAGCATCAA	0.433																																							uc002fgw.2		NA																	0					0						c.(268-270)CAG>CTG		M-phase phosphoprotein 6							204.0	179.0	187.0					16																	82182995		2201	4300	6501	SO:0001583	missense	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182995T>A	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.269A>T	16.37:g.82182995T>A	ENSP00000258169:p.Gln90Leu						p.Q90L	NM_005792	NP_005783	Q99547	MPH6_HUMAN			4	318	-			90					B2RAF0	Missense_Mutation	SNP	ENST00000258169.4	37	c.269A>T	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917248	0.33815	.	.	ENSG00000135698	ENST00000258169	T	0.44482	0.92	5.67	4.51	0.55191	.	0.125660	0.53938	D	0.000045	T	0.31702	0.0805	L	0.36672	1.1	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.09207	-1.0685	10	0.29301	T	0.29	-7.9646	10.9655	0.47410	0.1398:0.0:0.0:0.8602	.	90	Q99547	MPH6_HUMAN	L	90	ENSP00000258169:Q90L	ENSP00000258169:Q90L	Q	-	2	0	MPHOSPH6	80740496	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.017000	0.40981	2.150000	0.67090	0.533000	0.62120	CAG		0.433	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		71	63	0	0	0	0.00361	0	71	63				
EMC8	10328	broad.mit.edu	37	16	85814046	85814046	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:85814046C>A	ENST00000253457.3	-	4	656	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	RNU1-103P_ENST00000516502.1_RNA|EMC8_ENST00000435200.2_Intron	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	138						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ATCGTAGGCGCTACGCAGTCC	0.602																																							uc002fjd.2		NA																	0					0						c.(412-414)GCG>TCG		COX4 neighbor isoform 1							139.0	95.0	110.0					16																	85814046		2198	4300	6498	SO:0001583	missense	10328					mitochondrion|nucleus		g.chr16:85814046C>A	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.412G>T	16.37:g.85814046C>A	ENSP00000253457:p.Ala138Ser					COX4NB_uc010vol.1_Intron	p.A138S	NM_006067	NP_006058	O43402	CX4NB_HUMAN			4	659	-			138					C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	c.412G>T	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052212	0.19827	.	.	ENSG00000131148	ENST00000253457	T	0.42900	0.96	5.12	5.12	0.69794	.	0.313001	0.36034	N	0.002827	T	0.17577	0.0422	N	0.04018	-0.295	0.54753	D	0.99998	B	0.06786	0.001	B	0.08055	0.003	T	0.15607	-1.0431	10	0.09338	T	0.73	-8.772	7.9864	0.30213	0.1601:0.7601:0.0:0.0798	.	138	O43402	CX4NB_HUMAN	S	138	ENSP00000253457:A138S	ENSP00000253457:A138S	A	-	1	0	COX4NB	84371547	0.377000	0.25106	0.030000	0.17652	0.961000	0.63080	2.915000	0.48805	2.377000	0.81083	0.561000	0.74099	GCG		0.602	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		14	41	1	0	4.14922e-12	0.004007	4.82926e-12	14	41				
BANP	54971	broad.mit.edu	37	16	88039714	88039714	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:88039714G>T	ENST00000393207.1	+	6	695	c.474G>T	c.(472-474)cgG>cgT	p.R158R	BANP_ENST00000286122.7_Silent_p.R158R|BANP_ENST00000355022.4_Silent_p.R127R|BANP_ENST00000538234.1_Silent_p.R166R|BANP_ENST00000393208.2_Silent_p.R127R|BANP_ENST00000355163.5_Silent_p.R133R|BANP_ENST00000479780.2_Silent_p.R127R	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	158	Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CTGGGCGTCGGCAGAACACCA	0.612																																							uc002fkr.2		NA																	0					0						c.(469-471)CGG>CGT		BTG3 associated nuclear protein isoform b							97.0	90.0	92.0					16																	88039714		2198	4300	6498	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88039714G>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.474G>T	16.37:g.88039714G>T						BANP_uc002fkp.2_Silent_p.R127R|BANP_uc002fkq.2_Silent_p.R127R|BANP_uc010vow.1_Silent_p.R165R|BANP_uc002fks.3_Silent_p.R126R|BANP_uc002fko.1_Silent_p.R63R|BANP_uc010vov.1_Silent_p.R132R	p.R157R	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	6	695	+			158			Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.471G>T	CCDS54054.1																																																																																				0.612	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		80	63	1	0	5.02048e-33	0.00361	7.13054e-33	80	63				
CDH15	1013	broad.mit.edu	37	16	89259965	89259965	+	Missense_Mutation	SNP	G	G	C	rs376932804		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:89259965G>C	ENST00000289746.2	+	12	2008	c.1943G>C	c.(1942-1944)cGa>cCa	p.R648P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	648					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGACCTTCGAGACAATGTC	0.672																																							uc002fmt.2		NA																	0				skin(1)	1						c.(1942-1944)CGA>CCA		cadherin 15 preproprotein							25.0	25.0	25.0					16																	89259965		2183	4289	6472	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89259965G>C	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1943G>C	16.37:g.89259965G>C	ENSP00000289746:p.Arg648Pro						p.R648P	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	12	2020	+			648			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.1943G>C	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656803	0.88154	.	.	ENSG00000129910	ENST00000289746	D	0.84516	-1.86	4.47	4.47	0.54385	Cadherin, cytoplasmic domain (1);	0.312194	0.20250	U	0.096106	D	0.93255	0.7851	M	0.91872	3.25	0.58432	D	0.999997	P	0.52061	0.95	P	0.61874	0.895	D	0.94814	0.7981	10	0.87932	D	0	.	15.9132	0.79488	0.0:0.0:1.0:0.0	.	648	P55291	CAD15_HUMAN	P	648	ENSP00000289746:R648P	ENSP00000289746:R648P	R	+	2	0	CDH15	87787466	0.993000	0.37304	0.946000	0.38457	0.921000	0.55340	6.075000	0.71261	2.012000	0.59069	0.557000	0.71058	CGA		0.672	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		6	38	0	0	0	0.001168	0	6	38				
OR1D2	4991	broad.mit.edu	37	17	2995893	2995893	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:2995893G>T	ENST00000331459.1	-	1	397	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	133					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CATGGCTGTGGTGTAGTGGAG	0.552																																							uc010vrb.1		NA																	0				ovary(1)	1						c.(397-399)ACC>AAC		olfactory receptor, family 1, subfamily D,							85.0	91.0	89.0					17																	2995893		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995893G>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.398C>A	17.37:g.2995893G>T	ENSP00000327585:p.Thr133Asn						p.T133N	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	398	-			133			Cytoplasmic (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.398C>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	8.748	0.920687	0.17982	.	.	ENSG00000184166	ENST00000331459	T	0.01335	5.0	3.0	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02688	0.0081	M	0.75884	2.315	0.09310	N	1	B	0.23540	0.087	B	0.29353	0.101	T	0.33574	-0.9863	9	0.66056	D	0.02	.	6.0753	0.19911	0.1181:0.192:0.6899:0.0	.	133	P34982	OR1D2_HUMAN	N	133	ENSP00000327585:T133N	ENSP00000327585:T133N	T	-	2	0	OR1D2	2942643	0.000000	0.05858	0.505000	0.27651	0.898000	0.52572	-0.631000	0.05496	0.455000	0.26910	-0.256000	0.11100	ACC		0.552	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		88	42	1	0	8.6838e-40	0.00361	1.27588e-39	88	42				
OR1E2	8388	broad.mit.edu	37	17	3336698	3336698	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:3336698G>T	ENST00000248384.1	-	1	437	c.438C>A	c.(436-438)agC>agA	p.S146R		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	146					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AGAGCATGGGGCTCATGATGG	0.567																																							uc010vre.1		NA																	0				large_intestine(1)	1						c.(436-438)AGC>AGA		olfactory receptor, family 1, subfamily E,							85.0	74.0	78.0					17																	3336698		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336698G>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.438C>A	17.37:g.3336698G>T	ENSP00000248384:p.Ser146Arg						p.S146R	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	438	-			146			Cytoplasmic (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.438C>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	6.971	0.549068	0.13312	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.03831	3.79	5.47	-0.107	0.13592	GPCR, rhodopsin-like superfamily (1);	0.148993	0.48286	D	0.000187	T	0.02156	0.0067	N	0.08118	0	0.20821	N	0.999845	B	0.20261	0.043	B	0.20767	0.031	T	0.40942	-0.9536	10	0.46703	T	0.11	.	3.3225	0.07056	0.2052:0.1168:0.5578:0.1203	.	146	P47887	OR1E2_HUMAN	R	146;136	ENSP00000248384:S146R	ENSP00000248384:S146R	S	-	3	2	OR1E2	3283448	0.000000	0.05858	0.943000	0.38184	0.304000	0.27724	-0.266000	0.08631	0.128000	0.18479	-0.854000	0.03029	AGC		0.567	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			50	26	1	0	3.39706e-21	0.00361	4.39777e-21	50	26				
ITGAE	3682	broad.mit.edu	37	17	3660400	3660400	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:3660400G>T	ENST00000263087.4	-	10	1147	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	350	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCCCTCGCAGTCCTAGCACT	0.597																																					NSCLC(182;635 2928 8995 38788)	NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(1048-1050)ACT>AAT		integrin, alpha E precursor							262.0	246.0	252.0					17																	3660400		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3660400G>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1049C>A	17.37:g.3660400G>T	ENSP00000263087:p.Thr350Asn						p.T350N	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	10	1148	-			350			VWFA.|Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1049C>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511277	0.27036	.	.	ENSG00000083457	ENST00000263087	T	0.81078	-1.45	4.32	3.32	0.38043	von Willebrand factor, type A (3);	.	.	.	.	T	0.70272	0.3205	L	0.33485	1.01	0.09310	N	1	B	0.29253	0.239	B	0.30855	0.121	T	0.56878	-0.7906	9	0.27785	T	0.31	.	9.6464	0.39870	0.0:0.0:0.7913:0.2087	.	350	P38570	ITAE_HUMAN	N	350	ENSP00000263087:T350N	ENSP00000263087:T350N	T	-	2	0	ITGAE	3607149	0.620000	0.27068	0.001000	0.08648	0.012000	0.07955	5.760000	0.68793	0.906000	0.36621	0.407000	0.27541	ACT		0.597	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		190	109	1	0	6.82201e-104	0.00361	1.08006e-103	190	109				
DLG4	1742	broad.mit.edu	37	17	7107548	7107548	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:7107548G>A	ENST00000399506.2	-	3	311	c.120C>T	c.(118-120)gtC>gtT	p.V40V	DLG4_ENST00000485100.1_Silent_p.V40V|DLG4_ENST00000302955.6_Silent_p.V40V|DLG4_ENST00000399510.2_Silent_p.V83V			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	40					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TATCTGTGTTGACAATCACTG	0.527																																							uc002get.3		NA																	0				ovary(1)|breast(1)	2						c.(247-249)GTC>GTT		post-synaptic density protein 95 isoform 1							86.0	90.0	89.0					17																	7107548		1902	4111	6013	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7107548G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.120C>T	17.37:g.7107548G>A						DLG4_uc010vtm.1_5'Flank|DLG4_uc010vtn.1_5'UTR|DLG4_uc010cly.2_Silent_p.V40V|DLG4_uc010vto.1_Silent_p.V83V|DLG4_uc002geu.2_Silent_p.V40V	p.V83V	NM_001365	NP_001356	P78352	DLG4_HUMAN			5	1450	-			40					B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.249C>T																																																																																					0.527	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		15	25	0	0	0	0.004007	0	15	25				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; 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.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	32	1	0	4.88482e-21	0.00361	6.30715e-21	57	32				
PER1	5187	broad.mit.edu	37	17	8044469	8044469	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:8044469G>C	ENST00000317276.4	-	23	4027	c.3790C>G	c.(3790-3792)Cag>Gag	p.Q1264E	PER1_ENST00000581082.1_Missense_Mutation_p.Q1241E|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1264	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCAAGTCCTGAGAGCTTGAA	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3790-3792)CAG>GAG	Other_conserved_DNA_damage_response_genes	period 1							174.0	185.0	181.0					17																	8044469		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044469G>C	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3790C>G	17.37:g.8044469G>C	ENSP00000314420:p.Gln1264Glu					PER1_uc010cns.2_Missense_Mutation_p.Q138E|PER1_uc010vuq.1_RNA	p.Q1264E	NM_002616	NP_002607	O15534	PER1_HUMAN			23	4028	-			1264			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3790C>G	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805659	0.31961	.	.	ENSG00000179094	ENST00000317276	T	0.12672	2.66	4.97	4.97	0.65823	.	0.368648	0.24925	N	0.034505	T	0.08403	0.0209	N	0.14661	0.345	0.80722	D	1	P;B	0.42735	0.788;0.116	B;B	0.35813	0.211;0.031	T	0.19614	-1.0300	10	0.49607	T	0.09	-15.3352	13.5833	0.61915	0.0:0.0:1.0:0.0	.	1255;1264	A2I2P6;O15534	.;PER1_HUMAN	E	1264	ENSP00000314420:Q1264E	ENSP00000314420:Q1264E	Q	-	1	0	PER1	7985194	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.625000	0.61262	2.583000	0.87209	0.491000	0.48974	CAG		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			72	265	0	0	0	0.00361	0	72	265				
MYH13	8735	broad.mit.edu	37	17	10265445	10265445	+	Silent	SNP	G	G	A	rs371002897		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10265445G>A	ENST00000418404.3	-	4	658	c.495C>T	c.(493-495)ttC>ttT	p.F165F	MYH13_ENST00000252172.4_Silent_p.F165F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	165	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGTCAGCATGAACTGATAGG	0.483																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(493-495)TTC>TTT		myosin, heavy polypeptide 13, skeletal muscle		G		0,4406		0,0,2203	116.0	128.0	124.0		495	3.1	1.0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH13	NM_003802.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		165/1939	10265445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265445G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.495C>T	17.37:g.10265445G>A							p.F165F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			5	585	-			165			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.495C>T	CCDS45613.1																																																																																				0.483	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		61	213	0	0	0	0.00361	0	61	213				
MYH4	4622	broad.mit.edu	37	17	10351986	10351986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10351986C>A	ENST00000255381.2	-	32	4590	c.4480G>T	c.(4480-4482)Gaa>Taa	p.E1494*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1494					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGGATTCCTCGTAGGCA	0.438																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4480-4482)GAA>TAA		myosin, heavy polypeptide 4, skeletal muscle							108.0	108.0	108.0					17																	10351986		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351986C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4480G>T	17.37:g.10351986C>A	ENSP00000255381:p.Glu1494*					uc002gml.1_Intron	p.E1494*	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4591	-			1494			Potential.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.4480G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	43	10.487551	0.99414	.	.	ENSG00000141048	ENST00000255381	.	.	.	4.97	4.97	0.65823	.	0.000000	0.37857	U	0.001914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5711	0.91136	0.0:1.0:0.0:0.0	.	.	.	.	X	1494	.	ENSP00000255381:E1494X	E	-	1	0	MYH4	10292711	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.773000	0.85462	2.480000	0.83734	0.561000	0.74099	GAA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		66	45	1	0	1.34159e-35	0.00361	1.93918e-35	66	45				
MYH4	4622	broad.mit.edu	37	17	10360956	10360956	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10360956G>T	ENST00000255381.2	-	16	1788	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	560	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GATTTTCCAAGATGTTGTTCA	0.498																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1678-1680)CTT>ATT		myosin, heavy polypeptide 4, skeletal muscle							155.0	159.0	158.0					17																	10360956		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360956G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1678C>A	17.37:g.10360956G>T	ENSP00000255381:p.Leu560Ile					uc002gml.1_Intron	p.L560I	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1789	-			560			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1678C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641093	0.47153	.	.	ENSG00000141048	ENST00000255381	D	0.87571	-2.27	5.19	3.16	0.36331	Myosin head, motor domain (2);	0.000000	0.27164	U	0.020624	D	0.92561	0.7637	M	0.93808	3.46	0.48341	D	0.99963	B	0.20671	0.047	B	0.41510	0.359	D	0.92551	0.6050	10	0.62326	D	0.03	.	12.4954	0.55925	0.1444:0.0:0.8556:0.0	.	560	Q9Y623	MYH4_HUMAN	I	560	ENSP00000255381:L560I	ENSP00000255381:L560I	L	-	1	0	MYH4	10301681	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	3.202000	0.51067	1.334000	0.45468	0.491000	0.48974	CTT		0.498	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		15	168	1	0	1.05317e-09	0.00245	1.18497e-09	15	168				
MYH4	4622	broad.mit.edu	37	17	10367813	10367813	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10367813C>T	ENST00000255381.2	-	7	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	208	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGCAGGTTCCTCTTTTTTCT	0.423																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(622-624)GAG>GAA		myosin, heavy polypeptide 4, skeletal muscle							75.0	74.0	74.0					17																	10367813		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10367813C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.624G>A	17.37:g.10367813C>T						uc002gml.1_Intron	p.E208E	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			7	735	-			208			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.624G>A	CCDS11154.1																																																																																				0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		41	24	0	0	0	0.00623	0	41	24				
MYH1	4619	broad.mit.edu	37	17	10397893	10397893	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10397893G>C	ENST00000226207.5	-	38	5658	c.5564C>G	c.(5563-5565)aCt>aGt	p.T1855S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1855					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTTGGTAAGTGAGTTCCTT	0.378																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5563-5565)ACT>AGT		myosin, heavy chain 1, skeletal muscle, adult							207.0	189.0	195.0					17																	10397893		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397893G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5564C>G	17.37:g.10397893G>C	ENSP00000226207:p.Thr1855Ser					uc002gml.1_Intron	p.T1855S	NM_005963	NP_005954	P12882	MYH1_HUMAN			38	5658	-			1855			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5564C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741750	0.30865	.	.	ENSG00000109061	ENST00000226207	T	0.78246	-1.16	5.09	4.12	0.48240	Myosin tail (1);	0.000000	0.44483	U	0.000453	T	0.68924	0.3054	L	0.33189	0.99	0.25631	N	0.986304	B	0.09022	0.002	B	0.12156	0.007	T	0.51505	-0.8697	10	0.23891	T	0.37	.	16.9647	0.86282	0.0:0.2421:0.7579:0.0	.	1855	P12882	MYH1_HUMAN	S	1855	ENSP00000226207:T1855S	ENSP00000226207:T1855S	T	-	2	0	MYH1	10338618	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.786000	0.62425	0.654000	0.30846	-1.268000	0.01426	ACT		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		68	46	0	0	0	0.00361	0	68	46				
DNAH9	1770	broad.mit.edu	37	17	11593679	11593679	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:11593679G>C	ENST00000262442.4	+	20	4608	c.4540G>C	c.(4540-4542)Gaa>Caa	p.E1514Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1514Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1514	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCTGGTTTGAAGTGCAGCG	0.493																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(4540-4542)GAA>CAA		dynein, axonemal, heavy chain 9 isoform 2							87.0	86.0	86.0					17																	11593679		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593679G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4540G>C	17.37:g.11593679G>C	ENSP00000262442:p.Glu1514Gln					DNAH9_uc010coo.2_Missense_Mutation_p.E808Q	p.E1514Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4608	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1514			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4540G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954777	0.53293	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61158	0.13;0.13	5.57	4.54	0.55810	Dynein heavy chain, domain-2 (1);	0.061985	0.64402	D	0.000006	T	0.60689	0.2288	L	0.54863	1.705	0.80722	D	1	B	0.33739	0.422	B	0.42653	0.394	T	0.61252	-0.7100	10	0.41790	T	0.15	.	15.9134	0.79491	0.0:0.1351:0.8649:0.0	.	1514	Q9NYC9	DYH9_HUMAN	Q	1514;1514;96	ENSP00000262442:E1514Q;ENSP00000414874:E1514Q	ENSP00000262442:E1514Q	E	+	1	0	DNAH9	11534404	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	5.098000	0.64548	2.630000	0.89119	0.655000	0.94253	GAA		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	107	0	0	0	0.004672	0	3	107				
TBC1D26	353149	broad.mit.edu	37	17	15641379	15641379	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:15641379G>T	ENST00000437605.2	+	6	517	c.267G>T	c.(265-267)agG>agT	p.R89S	AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.R89S|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	89							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAATATAGGAGCACCAAGA	0.527																																							uc010cov.2		NA																	0					0						c.(265-267)AGG>AGT		TBC1 domain family, member 26							154.0	145.0	148.0					17																	15641379		2017	4182	6199	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641379G>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.267G>T	17.37:g.15641379G>T	ENSP00000410111:p.Arg89Ser					TBC1D26_uc010cou.1_Missense_Mutation_p.R89S|TBC1D26_uc002gpb.3_RNA	p.R89S	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	6	517	+			89					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.267G>T	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	g	6.222	0.409076	0.11812	.	.	ENSG00000214946	ENST00000437605	T	0.29142	1.58	1.57	0.261	0.15592	Rab-GAP/TBC domain (1);	0.212522	0.37577	U	0.002034	T	0.16769	0.0403	N	0.25485	0.75	0.09310	N	1	B;B	0.27951	0.066;0.195	B;B	0.28385	0.041;0.089	T	0.12811	-1.0533	10	0.35671	T	0.21	.	4.9543	0.14031	0.0:0.0:0.6472:0.3527	.	89;89	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	S	89	ENSP00000410111:R89S	ENSP00000410111:R89S	R	+	3	2	TBC1D26	15582104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.362000	0.07602	-0.146000	0.11274	0.411000	0.27672	AGG		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		7	144	1	0	0.000442599	0.006214	0.000458023	7	144				
COPS3	8533	broad.mit.edu	37	17	17174123	17174123	+	Splice_Site	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:17174123T>C	ENST00000268717.5	-	4	405		c.e4-2		COPS3_ENST00000539941.2_Splice_Site|COPS3_ENST00000439936.2_Splice_Site	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3						cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCCCAGCAACTAGATACAATA	0.294																																							uc002grd.2		NA																	0				skin(1)	1						c.e4-1		COP9 constitutive photomorphogenic homolog							26.0	26.0	26.0					17																	17174123		2203	4299	6502	SO:0001630	splice_region_variant	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17174123T>C	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.299-2A>G	17.37:g.17174123T>C						COPS3_uc010vwv.1_Splice_Site_p.F80_splice|COPS3_uc010vww.1_Splice_Site	p.F100_splice	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			4	390	-								B2R683|B4DY81|O43191|Q7LDR6	Splice_Site	SNP	ENST00000268717.5	37	c.299_splice	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.638312	0.67130	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6284	0.76882	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPS3	17114848	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.913000	0.87471	2.281000	0.76405	0.533000	0.62120	.		0.294	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		Intron	3	8	0	0	0	0.004672	0	3	8				
ULK2	9706	broad.mit.edu	37	17	19705183	19705183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:19705183C>A	ENST00000395544.4	-	16	1847	c.1348G>T	c.(1348-1350)Gga>Tga	p.G450*	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Nonsense_Mutation_p.G450*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	450					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GAGCATGATCCCGGCCGGAGG	0.502																																							uc002gwm.3		NA																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(1348-1350)GGA>TGA		unc-51-like kinase 2							183.0	184.0	184.0					17																	19705183		2203	4300	6503	SO:0001587	stop_gained	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19705183C>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1348G>T	17.37:g.19705183C>A	ENSP00000378914:p.Gly450*					ULK2_uc002gwn.2_Nonsense_Mutation_p.G450*	p.G450*	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			16	1857	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		450					A8MY69|O75119	Nonsense_Mutation	SNP	ENST00000395544.4	37	c.1348G>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	43	10.292540	0.99377	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	.	.	.	6.02	6.02	0.97574	.	0.050227	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-8.5346	19.5289	0.95219	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000354877:G450X	G	-	1	0	ULK2	19645775	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.503000	0.66962	2.865000	0.98341	0.655000	0.94253	GGA		0.502	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		85	328	1	0	9.24773e-40	0.00361	1.3567e-39	85	328				
EFCAB5	374786	broad.mit.edu	37	17	28405430	28405430	+	Silent	SNP	C	C	A	rs376451950		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:28405430C>A	ENST00000394835.3	+	15	3127	c.2935C>A	c.(2935-2937)Cgg>Agg	p.R979R	EFCAB5_ENST00000320856.5_Silent_p.R855R|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	979							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCCAGGCGGAAATGGCT	0.493																																							uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(2935-2937)CGG>AGG		EF-hand calcium binding domain 5 isoform a							83.0	83.0	83.0					17																	28405430		1928	4130	6058	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28405430C>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2935C>A	17.37:g.28405430C>A						EFCAB5_uc010cse.2_Silent_p.R734R|EFCAB5_uc010csf.2_Intron	p.R979R	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			15	3127	+			979					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.2935C>A	CCDS11254.2																																																																																				0.493	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		56	114	1	0	1.11015e-26	0.00361	1.51525e-26	56	114				
TMIGD1	388364	broad.mit.edu	37	17	28651841	28651841	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:28651841A>T	ENST00000328886.4	-	4	705	c.633T>A	c.(631-633)atT>atA	p.I211I	TMIGD1_ENST00000538566.2_Silent_p.I211I	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	211						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TACCTTTAACAATCAGGTGAA	0.403																																							uc002hfa.1		NA																	0					0						c.(631-633)ATT>ATA		transmembrane and immunoglobulin domain							94.0	93.0	93.0					17																	28651841		2203	4300	6503	SO:0001819	synonymous_variant	388364					integral to membrane		g.chr17:28651841A>T	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.633T>A	17.37:g.28651841A>T						TMIGD1_uc010csh.1_Silent_p.I211I	p.I211I	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN			4	706	-			211			Extracellular (Potential).		A8K2K1|Q6ZMC6	Silent	SNP	ENST00000328886.4	37	c.633T>A	CCDS32605.1																																																																																				0.403	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		32	92	0	0	0	0.009535	0	32	92				
TMEM98	26022	broad.mit.edu	37	17	31263396	31263396	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:31263396C>G	ENST00000579849.1	+	6	775	c.344C>G	c.(343-345)tCt>tGt	p.S115C	TMEM98_ENST00000578289.1_Missense_Mutation_p.S115C|TMEM98_ENST00000394642.3_Missense_Mutation_p.S115C	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	115						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACAATGGGCTCTGGGGCCAAG	0.572																																							uc002hhq.2		NA																	0					0						c.(343-345)TCT>TGT		transmembrane protein 98							117.0	105.0	109.0					17																	31263396		2203	4300	6503	SO:0001583	missense	26022					endoplasmic reticulum|integral to membrane		g.chr17:31263396C>G	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.344C>G	17.37:g.31263396C>G	ENSP00000463245:p.Ser115Cys					TMEM98_uc002hhr.2_Missense_Mutation_p.S115C	p.S115C	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		6	802	+		Ovarian(249;0.182)|Breast(31;0.244)	115					E1P631|Q9UFK2	Missense_Mutation	SNP	ENST00000579849.1	37	c.344C>G	CCDS11274.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887873	0.91814	.	.	ENSG00000006042	ENST00000394642;ENST00000261713;ENST00000395149;ENST00000439138	T;T;T;T	0.50548	0.85;0.74;0.74;0.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	L	0.34521	1.04	0.33616	D	0.604259	D	0.69078	0.997	P	0.58520	0.84	T	0.65582	-0.6133	10	0.66056	D	0.02	-27.963	16.8304	0.85942	0.0:1.0:0.0:0.0	.	115	Q9Y2Y6	TMM98_HUMAN	C	115	ENSP00000378138:S115C;ENSP00000261713:S115C;ENSP00000398446:S115C;ENSP00000406394:S115C	ENSP00000261713:S115C	S	+	2	0	TMEM98	28287509	1.000000	0.71417	0.153000	0.22517	0.995000	0.86356	7.091000	0.76923	-3.689000	0.00120	-0.339000	0.08088	TCT		0.572	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		6	182	0	0	0	0.00308	0	6	182				
UNC45B	146862	broad.mit.edu	37	17	33475423	33475423	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:33475423G>T	ENST00000268876.5	+	2	238	c.141G>T	c.(139-141)cgG>cgT	p.R47R	UNC45B_ENST00000394570.2_Silent_p.R47R|UNC45B_ENST00000591048.1_Silent_p.R47R|UNC45B_ENST00000433649.1_Silent_p.R47R|UNC45B_ENST00000378449.1_Silent_p.R47R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	47					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGCTTTATCGGAACCGGGCAG	0.637																																							uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(139-141)CGG>CGT		cardiomyopathy associated 4 isoform 1							55.0	52.0	53.0					17																	33475423		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33475423G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.141G>T	17.37:g.33475423G>T						UNC45B_uc002hjb.2_Silent_p.R47R|UNC45B_uc002hjc.2_Silent_p.R47R|UNC45B_uc010cto.2_Silent_p.R47R	p.R47R	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			2	238	+		Ovarian(249;0.17)	47			TPR 2.		Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.141G>T	CCDS11292.1																																																																																				0.637	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		23	56	1	0	5.45024e-15	0.00333	6.56978e-15	23	56				
UNC45B	146862	broad.mit.edu	37	17	33501353	33501353	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:33501353C>A	ENST00000268876.5	+	14	2026	c.1929C>A	c.(1927-1929)gcC>gcA	p.A643A	UNC45B_ENST00000394570.2_Silent_p.A641A|UNC45B_ENST00000591048.1_Silent_p.A562A|UNC45B_ENST00000433649.1_Silent_p.A641A|UNC45B_ENST00000378449.1_Silent_p.A562A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	643					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGATAGTGCCATCCTCACTG	0.602																																							uc002hja.2		NA																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1927-1929)GCC>GCA		cardiomyopathy associated 4 isoform 1							93.0	88.0	89.0					17																	33501353		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501353C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1929C>A	17.37:g.33501353C>A						UNC45B_uc002hjb.2_Silent_p.A641A|UNC45B_uc002hjc.2_Silent_p.A641A|UNC45B_uc010cto.2_Silent_p.A562A	p.A643A	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			14	2026	+		Ovarian(249;0.17)	643					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1929C>A	CCDS11292.1																																																																																				0.602	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		48	99	1	0	1.02687e-29	0.013114	1.42742e-29	48	99				
ACACA	31	broad.mit.edu	37	17	35609868	35609868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:35609868G>A	ENST00000394406.2	-	15	2000	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q546*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.Q641*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q526*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	604	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTCATCTGAAAGCTTTCA	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1810-1812)CAG>TAG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						173.0	173.0	173.0					17																	35609868		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35609868G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1810C>T	17.37:g.35609868G>A	ENSP00000377928:p.Gln604*					ACACA_uc002hnk.2_Nonsense_Mutation_p.Q526*|ACACA_uc002hnl.2_Nonsense_Mutation_p.Q546*|ACACA_uc002hnn.2_Nonsense_Mutation_p.Q604*|ACACA_uc002hno.2_Nonsense_Mutation_p.Q641*|ACACA_uc010cuz.2_Nonsense_Mutation_p.Q604*	p.Q604*	NM_198836	NP_942133	Q13085	ACACA_HUMAN			15	2001	-		Breast(25;0.00157)|Ovarian(249;0.15)	604			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.1810C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.781938	0.99466	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-14.4805	19.5674	0.95401	0.0:0.0:1.0:0.0	.	.	.	.	X	641;546;604;628;526	.	ENSP00000335323:Q526X	Q	-	1	0	ACACA	32683981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.873000	0.98535	0.561000	0.74099	CAG		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		10	201	0	0	0	0.006214	0	10	201				
MLLT6	4302	broad.mit.edu	37	17	36874193	36874193	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:36874193G>A	ENST00000325718.7	+	12	2020	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	643					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCCAAGCTGAGAGCAGCCACA	0.537			T	MLL	AL																																		uc002hqi.3		NA		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(1927-1929)GAG>GAA		myeloid/lymphoid or mixed-lineage leukemia							132.0	117.0	122.0					17																	36874193		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36874193G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1929G>A	17.37:g.36874193G>A						MLLT6_uc002hqj.2_Silent_p.E78E|MLLT6_uc002hqk.3_5'Flank	p.E643E	NM_005937	NP_005928	P55198	AF17_HUMAN			12	1942	+	Breast(7;4.43e-21)		643					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.1929G>A	CCDS11327.1																																																																																				0.537	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		68	122	0	0	0	0.00361	0	68	122				
THRA	7067	broad.mit.edu	37	17	38233829	38233829	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:38233829C>T	ENST00000264637.4	+	4	770	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	THRA_ENST00000546243.1_Missense_Mutation_p.H64Y|THRA_ENST00000394121.4_Missense_Mutation_p.H64Y|THRA_ENST00000584985.1_Missense_Mutation_p.H64Y|THRA_ENST00000450525.2_Missense_Mutation_p.H64Y	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	64					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AACTGGTTATCACTACCGCTG	0.542																																							uc002htw.2		NA																	0					0						c.(190-192)CAC>TAC		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						231.0	180.0	197.0					17																	38233829		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38233829C>T	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.190C>T	17.37:g.38233829C>T	ENSP00000264637:p.His64Tyr					THRA_uc010cwp.1_Missense_Mutation_p.H64Y|THRA_uc002htv.2_Missense_Mutation_p.H64Y|THRA_uc002htx.2_Missense_Mutation_p.H64Y	p.H64Y	NM_003250	NP_003241	P10827	THA_HUMAN			4	673	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	64			Nuclear receptor.|NR C4-type.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.190C>T	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462910	0.96257	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.84	5.84	0.93424	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	0.999;1.0;0.988	D	0.98725	1.0710	10	0.72032	D	0.01	.	18.9037	0.92453	0.0:1.0:0.0:0.0	.	64;64;64	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	Y	64	ENSP00000377679:H64Y;ENSP00000264637:H64Y;ENSP00000395641:H64Y;ENSP00000443972:H64Y	ENSP00000264637:H64Y	H	+	1	0	THRA	35487355	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.681000	0.84073	2.765000	0.95021	0.484000	0.47621	CAC		0.542	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			72	154	0	0	0	0.00361	0	72	154				
KRT9	3857	broad.mit.edu	37	17	39723617	39723617	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:39723617C>T	ENST00000246662.4	-	7	1845	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	KRT9_ENST00000588431.1_Missense_Mutation_p.G361S	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	594	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ccactttcacctccaaaacca	0.582																																							uc002hxe.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1780-1782)GGT>AGT		keratin 9							149.0	125.0	133.0					17																	39723617		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39723617C>T		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1780G>A	17.37:g.39723617C>T	ENSP00000246662:p.Gly594Ser					JUP_uc010wfs.1_Intron	p.G594S	NM_000226	NP_000217	P35527	K1C9_HUMAN			7	1846	-		Breast(137;0.000307)	594			Tail.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1780G>A	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929476	0.18131	.	.	ENSG00000171403	ENST00000246662	T	0.81415	-1.49	2.67	2.67	0.31697	.	0.000000	0.31897	N	0.006885	T	0.81875	0.4915	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.70594	-0.4829	10	0.87932	D	0	.	8.8538	0.35217	0.0:1.0:0.0:0.0	.	594	P35527	K1C9_HUMAN	S	594	ENSP00000246662:G594S	ENSP00000246662:G594S	G	-	1	0	KRT9	36977143	0.001000	0.12720	0.032000	0.17829	0.775000	0.43874	0.259000	0.18405	1.492000	0.48499	0.542000	0.68232	GGT		0.582	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		6	31	0	0	0	0.004482	0	6	31				
PLEKHH3	79990	broad.mit.edu	37	17	40820147	40820147	+	Nonstop_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:40820147A>T	ENST00000591022.1	-	13	2767	c.2380T>A	c.(2380-2382)Tga>Aga	p.*794R	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Nonstop_Mutation_p.*791R|PLEKHH3_ENST00000412503.1_Nonstop_Mutation_p.*617R	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	0					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCAGGCTCAGTCCTGCAGC	0.652																																							uc002iau.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2380-2382)TGA>AGA		pleckstrin homology domain containing, family H							11.0	12.0	12.0					17																	40820147		2192	4286	6478	SO:0001578	stop_lost	79990				signal transduction	cytoskeleton		g.chr17:40820147A>T	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2380T>A	17.37:g.40820147A>T						PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Nonstop_Mutation_p.*155R|PLEKHH3_uc002iaw.2_3'UTR	p.*794R	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	13	2847	-		Breast(137;0.00116)	794					C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Nonstop_Mutation	SNP	ENST00000591022.1	37	c.2380T>A	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646286	0.67358	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5675	0.45181	1.0:0.0:0.0:0.0	.	.	.	.	R	794;617	.	.	X	-	1	0	PLEKHH3	38073673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.774000	0.47694	2.073000	0.62155	0.454000	0.30748	TGA		0.652	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		8	20	0	0	0	0.00308	0	8	20				
RUNDC3A	10900	broad.mit.edu	37	17	42390611	42390611	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:42390611C>A	ENST00000426726.3	+	3	637	c.363C>A	c.(361-363)gcC>gcA	p.A121A	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.A121A|RUNDC3A_ENST00000590941.1_Silent_p.A116A	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	121	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGCACAGCCCGGGCCAAGG	0.602																																					Pancreas(82;1061 1416 11136 20771 23901)	Pancreas(82;1061 1416 11136 20771 23901)	uc002igl.3		NA																	0					0						c.(361-363)GCC>GCA		RUN domain containing 3A isoform 1							54.0	61.0	59.0					17																	42390611		2076	4204	6280	SO:0001819	synonymous_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390611C>A	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.363C>A	17.37:g.42390611C>A						RUNDC3A_uc002igi.2_Silent_p.A121A|RUNDC3A_uc002igj.2_Silent_p.A116A|RUNDC3A_uc002igk.2_Silent_p.A117A	p.A121A	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	3	637	+		Prostate(33;0.0233)	121			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	c.363C>A	CCDS45698.1																																																																																				0.602	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		23	58	1	0	7.92952e-12	0.003954	9.19637e-12	23	58				
HOXB8	3218	broad.mit.edu	37	17	46690639	46690639	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:46690639C>A	ENST00000239144.4	-	2	891	c.657G>T	c.(655-657)gaG>gaT	p.E219D	HOXB7_ENST00000239165.7_5'Flank|HOXB8_ENST00000576562.1_Missense_Mutation_p.E218D|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	219					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTTTCTCCAGCTCCTCCTGCT	0.582																																							uc002inw.2		NA																	0					0						c.(655-657)GAG>GAT		homeobox B8							93.0	92.0	92.0					17																	46690639		2203	4300	6503	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690639C>A		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.657G>T	17.37:g.46690639C>A	ENSP00000239144:p.Glu219Asp					HOXB7_uc002inv.2_5'Flank	p.E219D	NM_024016	NP_076921	P17481	HXB8_HUMAN			2	892	-			219					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.657G>T	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221943	0.39300	.	.	ENSG00000120068	ENST00000239144	D	0.89875	-2.58	3.04	3.04	0.35103	.	0.159531	0.23851	U	0.043957	T	0.76350	0.3975	N	0.19112	0.55	0.39994	D	0.975085	B	0.23058	0.079	B	0.14023	0.01	T	0.69075	-0.5241	10	0.22109	T	0.4	.	6.4019	0.21642	0.0:0.7557:0.0:0.2443	.	219	P17481	HXB8_HUMAN	D	219	ENSP00000239144:E219D	ENSP00000239144:E219D	E	-	3	2	HOXB8	44045638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.707000	0.25704	1.734000	0.51633	0.479000	0.44913	GAG		0.582	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			90	126	1	0	9.54843e-35	0.00361	1.3761e-34	90	126				
ANKRD40	91369	broad.mit.edu	37	17	48777142	48777142	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:48777142G>C	ENST00000285243.6	-	3	665	c.396C>G	c.(394-396)atC>atG	p.I132M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	132										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGGTGTATAGATAAAAGGGA	0.542																																							uc002iso.2		NA																	0					0						c.(394-396)ATC>ATG		ankyrin repeat domain 40							52.0	55.0	54.0					17																	48777142		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777142G>C	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.396C>G	17.37:g.48777142G>C	ENSP00000285243:p.Ile132Met						p.I132M	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	651	-			132					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.396C>G	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792392	0.31685	.	.	ENSG00000154945	ENST00000285243	T	0.23552	1.9	5.07	2.46	0.29980	.	0.323633	0.34223	N	0.004160	T	0.17534	0.0421	L	0.43152	1.355	0.22017	N	0.99942	B	0.22683	0.073	B	0.15870	0.014	T	0.17137	-1.0379	10	0.66056	D	0.02	-4.385	3.5794	0.07946	0.118:0.2329:0.496:0.1531	.	132	Q6AI12	ANR40_HUMAN	M	132	ENSP00000285243:I132M	ENSP00000285243:I132M	I	-	3	3	ANKRD40	46132141	0.984000	0.35163	1.000000	0.80357	0.956000	0.61745	0.552000	0.23376	1.216000	0.43427	0.555000	0.69702	ATC		0.542	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		8	110	0	0	0	0.004482	0	8	110				
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:53398080G>T	ENST00000226067.5	+	4	1201	c.728G>T	c.(727-729)cGc>cTc	p.R243L	HLF_ENST00000573945.1_Missense_Mutation_p.R158L|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.R158L|HLF_ENST00000430986.2_Missense_Mutation_p.R158L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	243	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL																																		uc002iug.1		NA		Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				ovary(2)	2						c.(727-729)CGC>CTC		hepatic leukemia factor							35.0	40.0	38.0					17																	53398080		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398080G>T		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.728G>T	17.37:g.53398080G>T	ENSP00000226067:p.Arg243Leu					HLF_uc010dce.1_Missense_Mutation_p.R158L|HLF_uc002iuh.2_Missense_Mutation_p.R158L|HLF_uc010wni.1_Missense_Mutation_p.R190L	p.R243L	NM_002126	NP_002117	Q16534	HLF_HUMAN			4	1253	+			243			Basic motif.		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.728G>T	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630715	0.87660	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.72051	-0.62;-0.62	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93764	0.7069	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	191;243	B4DIQ5;Q16534	.;HLF_HUMAN	L	243;158	ENSP00000226067:R243L;ENSP00000402496:R158L	ENSP00000226067:R243L	R	+	2	0	HLF	50753079	1.000000	0.71417	0.982000	0.44146	0.252000	0.25951	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	CGC		0.547	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		10	65	1	0	1.58986e-06	0.008291	1.70841e-06	10	65				
ANKFN1	162282	broad.mit.edu	37	17	54543802	54543802	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:54543802G>T	ENST00000318698.2	+	14	1687	c.1652G>T	c.(1651-1653)aGg>aTg	p.R551M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.R551M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	551										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTCACCATCAGGGAGGTGGAG	0.413																																							uc002iun.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1651-1653)AGG>ATG		ankyrin-repeat and fibronectin type III domain							127.0	112.0	118.0					17																	54543802		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54543802G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1652G>T	17.37:g.54543802G>T	ENSP00000321627:p.Arg551Met						p.R551M	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			14	1687	+			551						Missense_Mutation	SNP	ENST00000318698.2	37	c.1652G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496240	0.85069	.	.	ENSG00000153930	ENST00000318698	T	0.25250	1.81	5.69	5.69	0.88448	.	0.045770	0.85682	D	0.000000	T	0.49643	0.1569	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.49341	-0.8950	10	0.72032	D	0.01	-14.7194	19.8199	0.96589	0.0:0.0:1.0:0.0	.	551	Q8N957	ANKF1_HUMAN	M	551	ENSP00000321627:R551M	ENSP00000321627:R551M	R	+	2	0	ANKFN1	51898801	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	AGG		0.413	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		49	62	1	0	1.23713e-20	0.00361	1.59315e-20	49	62				
HELZ	9931	broad.mit.edu	37	17	65163772	65163772	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:65163772C>T	ENST00000358691.5	-	14	1737	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	HELZ_ENST00000580168.1_Missense_Mutation_p.G524E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	524						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCAGTCGTCCAGCCAAAGT	0.418																																							uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1570-1572)GGA>GAA		helicase with zinc finger domain							115.0	103.0	107.0					17																	65163772		1870	4112	5982	SO:0001583	missense	9931							g.chr17:65163772C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1571G>A	17.37:g.65163772C>T	ENSP00000351524:p.Gly524Glu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G524E	p.G524E	NM_014877	NP_055692					14	1758	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1571G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940241	0.52972	.	.	ENSG00000198265	ENST00000358691	D	0.90004	-2.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.94763	0.7938	10	0.87932	D	0	-15.0757	19.2049	0.93726	0.0:1.0:0.0:0.0	.	524;524	B7ZLW2;P42694	.;HELZ_HUMAN	E	524	ENSP00000351524:G524E	ENSP00000351524:G524E	G	-	2	0	HELZ	62594234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.269000	0.78482	2.527000	0.85204	0.563000	0.77884	GGA		0.418	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		7	105	0	0	0	0.001984	0	7	105				
ABCA10	10349	broad.mit.edu	37	17	67170883	67170883	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:67170883G>A	ENST00000269081.4	-	25	3822	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	971					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGAAGGCCAGAGGCCTGAAA	0.368																																							uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2911-2913)CTC>CTT		ATP-binding cassette, sub-family A, member 10							71.0	78.0	76.0					17																	67170883		2202	4298	6500	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67170883G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2913C>T	17.37:g.67170883G>A						ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA	p.L971L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			25	3792	-	Breast(10;6.95e-12)		971					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2913C>T	CCDS11684.1																																																																																				0.368	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		7	196	0	0	0	0.001984	0	7	196				
LLGL2	3993	broad.mit.edu	37	17	73559175	73559175	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:73559175G>A	ENST00000392550.3	+	7	726	c.609G>A	c.(607-609)caG>caA	p.Q203Q	LLGL2_ENST00000375227.4_Silent_p.Q203Q|LLGL2_ENST00000578363.1_Silent_p.Q203Q|LLGL2_ENST00000577200.1_Silent_p.Q203Q|LLGL2_ENST00000167462.5_Silent_p.Q203Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	203					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACCCCAACCAGATCCTGATCG	0.657																																							uc002joh.2		NA																	0				ovary(2)	2						c.(607-609)CAG>CAA		lethal giant larvae homolog 2 isoform c							48.0	49.0	49.0					17																	73559175		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73559175G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.609G>A	17.37:g.73559175G>A						LLGL2_uc002jog.1_Silent_p.Q203Q|LLGL2_uc010dgf.1_Silent_p.Q203Q|LLGL2_uc002joi.2_Silent_p.Q203Q|LLGL2_uc010dgg.1_Silent_p.Q203Q|LLGL2_uc002joj.2_Silent_p.Q192Q|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	p.Q203Q	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		7	763	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		203			WD 4.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.609G>A	CCDS32733.1																																																																																				0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		14	63	0	0	0	0.001855	0	14	63				
UNC13D	201294	broad.mit.edu	37	17	73831096	73831096	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:73831096G>C	ENST00000207549.4	-	21	2276	c.1897C>G	c.(1897-1899)Cta>Gta	p.L633V	UNC13D_ENST00000412096.2_Missense_Mutation_p.L633V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	633	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTGGATAGATCCACCGCT	0.592									Familial Hemophagocytic Lymphohistiocytosis																														uc002jpp.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1897-1899)CTA>GTA		unc-13 homolog D							85.0	78.0	80.0					17																	73831096		2203	4300	6503	SO:0001583	missense	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831096G>C	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1897C>G	17.37:g.73831096G>C	ENSP00000207549:p.Leu633Val					UNC13D_uc010wsk.1_Missense_Mutation_p.L633V|UNC13D_uc002jpq.1_Missense_Mutation_p.L283V	p.L633V	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		21	2277	-			633			MHD1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1897C>G	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861901	0.51482	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.64803	-0.09;-0.12	4.43	4.43	0.53597	Munc13 homology 1 (1);	0.000000	0.56097	D	0.000039	T	0.58104	0.2099	L	0.39020	1.185	0.48830	D	0.999717	D;P	0.63046	0.992;0.714	P;B	0.59424	0.857;0.314	T	0.59311	-0.7478	10	0.02654	T	1	-3.5509	8.3541	0.32321	0.1747:0.0:0.8253:0.0	.	633;633	Q70J99-3;Q70J99	.;UN13D_HUMAN	V	633	ENSP00000207549:L633V;ENSP00000388093:L633V	ENSP00000207549:L633V	L	-	1	2	UNC13D	71342691	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.402000	0.52608	2.279000	0.76181	0.563000	0.77884	CTA		0.592	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		17	112	0	0	0	0.004007	0	17	112				
CEP131	22994	broad.mit.edu	37	17	79166565	79166565	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:79166565C>T	ENST00000269392.4	-	19	2656	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000450824.2_Silent_p.E800E	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		803					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCGCTCCCTCTCCTCAGCCA	0.731																																							uc002jzp.1		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2407-2409)GAG>GAA		5-azacytidine induced 1 isoform a							14.0	17.0	16.0					17																	79166565		2065	4187	6252	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166565C>T																												ENST00000269392.4:c.2409G>A	17.37:g.79166565C>T						AZI1_uc002jzm.1_Silent_p.E230E|AZI1_uc002jzn.1_Silent_p.E800E|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron	p.E803E	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		19	2609	-	all_neural(118;0.0804)|Melanoma(429;0.242)		803					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.2409G>A																																																																																					0.731	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			4	38	0	0	0	0.000602	0	4	38				
CEP131	22994	broad.mit.edu	37	17	79166570	79166570	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:79166570C>G	ENST00000269392.4	-	19	2651	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.E799Q	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		802					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCTCTCCTCAGCCACCTCA	0.731																																							uc002jzp.1		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2404-2406)GAG>CAG		5-azacytidine induced 1 isoform a							14.0	17.0	16.0					17																	79166570		2069	4189	6258	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166570C>G																												ENST00000269392.4:c.2404G>C	17.37:g.79166570C>G	ENSP00000269392:p.Glu802Gln					AZI1_uc002jzm.1_Missense_Mutation_p.E229Q|AZI1_uc002jzn.1_Missense_Mutation_p.E799Q|AZI1_uc002jzo.1_Intron|AZI1_uc010wum.1_Intron|AZI1_uc002jzq.2_Intron	p.E802Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		19	2604	-	all_neural(118;0.0804)|Melanoma(429;0.242)		802					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2404G>C		.	.	.	.	.	.	.	.	.	.	C	12.01	1.811096	0.32053	.	.	ENSG00000141577	ENST00000450824;ENST00000269392	T;T	0.16457	2.34;2.35	3.28	3.28	0.37604	.	0.131761	0.49916	D	0.000132	T	0.36717	0.0977	M	0.64997	1.995	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.87578	0.998;0.543	T	0.12400	-1.0549	10	0.31617	T	0.26	-25.2205	14.7247	0.69336	0.0:1.0:0.0:0.0	.	802;799	Q9UPN4;Q9UPN4-2	AZI1_HUMAN;.	Q	799;802	ENSP00000393583:E799Q;ENSP00000269392:E802Q	ENSP00000269392:E802Q	E	-	1	0	AZI1	76781165	0.997000	0.39634	1.000000	0.80357	0.202000	0.24057	3.723000	0.54955	1.673000	0.50895	0.313000	0.20887	GAG		0.731	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			4	38	0	0	0	0.000602	0	4	38				
CCDC57	284001	broad.mit.edu	37	17	80137053	80137053	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:80137053C>T	ENST00000389641.4	-	9	1260	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	CCDC57_ENST00000392343.3_Silent_p.Q408Q|CCDC57_ENST00000327026.3_Intron|CCDC57_ENST00000392347.1_Silent_p.Q408Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	408										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCAGGGACAGCTGTTGCTTGT	0.587																																							uc002kdz.1		NA																	0				ovary(2)	2						c.(1222-1224)CAG>CAA		coiled-coil domain containing 57							52.0	53.0	53.0					17																	80137053		2123	4243	6366	SO:0001819	synonymous_variant	284001							g.chr17:80137053C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1224G>A	17.37:g.80137053C>T						CCDC57_uc002kdx.1_Silent_p.Q408Q|CCDC57_uc010dik.1_Intron	p.Q408Q	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		10	1579	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		408			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37	c.1224G>A																																																																																					0.587	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		13	58	0	0	0	0.001368	0	13	58				
TMEM200C	645369	broad.mit.edu	37	18	5891789	5891789	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:5891789C>A	ENST00000581347.2	-	3	919	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A92S|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	92						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTGCTGCCCGCAGGCGGCAGC	0.672																																							uc002kmx.1		NA																	0					0						c.(274-276)GCG>TCG		transmembrane protein 200C							30.0	38.0	36.0					18																	5891789		1948	4135	6083	SO:0001583	missense	645369					integral to membrane		g.chr18:5891789C>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.274G>T	18.37:g.5891789C>A	ENSP00000463375:p.Ala92Ser						p.A92S	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	315	-			92						Missense_Mutation	SNP	ENST00000581347.2	37	c.274G>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	2.878	-0.232402	0.05983	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.66	1.52	0.23074	.	.	.	.	.	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29971	-0.9994	8	0.07030	T	0.85	.	1.6928	0.02856	0.1407:0.4088:0.2569:0.1935	.	92	A6NKL6	T200C_HUMAN	S	92	.	ENSP00000372982:A92S	A	-	1	0	TMEM200C	5881789	0.003000	0.15002	0.005000	0.12908	0.281000	0.26958	-0.022000	0.12480	0.451000	0.26802	0.460000	0.39030	GCG		0.672	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		59	31	1	0	2.69953e-25	0.00361	3.63899e-25	59	31				
CEP192	55125	broad.mit.edu	37	18	13030463	13030463	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:13030463G>C	ENST00000325971.8	+	11	1470		c.e11-1		CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000506447.1_Splice_Site			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTATTTTTTAGAAACAGATCT	0.308																																							uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.e11-1		centrosomal protein 192kDa							54.0	48.0	50.0					18																	13030463		692	1589	2281	SO:0001630	splice_region_variant	55125							g.chr18:13030463G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-123-1G>C	18.37:g.13030463G>C						CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.K59_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krs.1_Intron	p.K464_splice	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			11	1471	+								A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Splice_Site	SNP	ENST00000325971.8	37	c.1391_splice		.	.	.	.	.	.	.	.	.	.	G	13.68	2.308371	0.40895	.	.	ENSG00000101639	ENST00000506447;ENST00000430049	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3628	0.74492	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP192	13020463	1.000000	0.71417	0.941000	0.38009	0.495000	0.33615	3.548000	0.53670	2.445000	0.82738	0.313000	0.20887	.		0.308	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	Intron	6	13	0	0	0	0.001168	0	6	13				
ANKRD29	147463	broad.mit.edu	37	18	21192080	21192080	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:21192080C>A	ENST00000592179.1	-	9	952	c.798G>T	c.(796-798)ggG>ggT	p.G266G	ANKRD29_ENST00000284207.7_Intron|ANKRD29_ENST00000322980.9_Intron	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	266										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGGGTCTGCCCCTGCTTCTA	0.488																																							uc002kun.2		NA																	0				ovary(3)|breast(1)	4						c.(796-798)GGG>GGT		ankyrin repeat domain 29							151.0	116.0	128.0					18																	21192080		2203	4300	6503	SO:0001819	synonymous_variant	147463							g.chr18:21192080C>A	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.798G>T	18.37:g.21192080C>A						ANKRD29_uc002kuo.2_Intron	p.G266G	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN			9	955	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		266			ANK 8.		B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	c.798G>T	CCDS11879.1																																																																																				0.488	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		61	70	1	0	5.82218e-30	0.00361	8.10474e-30	61	70				
ZNF521	25925	broad.mit.edu	37	18	22804919	22804919	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:22804919C>G	ENST00000361524.3	-	4	3111	c.2963G>C	c.(2962-2964)gGa>gCa	p.G988A	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.G988A|ZNF521_ENST00000584787.1_Missense_Mutation_p.G768A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	988					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGCAGTTTCCAGTATCAAG	0.473			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2962-2964)GGA>GCA		zinc finger protein 521							63.0	63.0	63.0					18																	22804919		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804919C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2963G>C	18.37:g.22804919C>G	ENSP00000354794:p.Gly988Ala					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G988A|ZNF521_uc002kvl.2_Missense_Mutation_p.G768A	p.G988A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3210	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		988					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2963G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921782	0.33908	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.04	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.24115	0.695	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	T	0.01524	-1.1333	10	0.34782	T	0.22	-19.3801	20.4239	0.99064	0.0:1.0:0.0:0.0	.	988	Q96K83	ZN521_HUMAN	A	988;1022;988	ENSP00000354794:G988A;ENSP00000382352:G988A	ENSP00000354794:G988A	G	-	2	0	ZNF521	21058917	1.000000	0.71417	0.942000	0.38095	0.997000	0.91878	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	GGA		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		59	113	0	0	0	0.00361	0	59	113				
DSG4	147409	broad.mit.edu	37	18	28991203	28991204	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:28991203_28991204CC>AG	ENST00000308128.4	+	15	2282_2283	c.2147_2148CC>AG	c.(2146-2148)aCC>aAG	p.T716K	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.T735K|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	716					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAATCTACACCAACACCTATG	0.619																																							uc002kwq.2		NA																	0				central_nervous_system(5)|ovary(3)	8						c.(2146-2148)ACC>AAG		desmoglein 4 isoform 2 preproprotein																																				SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991203_28991204CC>AG	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	Exception_encountered	18.37:g.28991203_28991204delinsAG	ENSP00000311859:p.Thr716Lys					DSG4_uc002kwr.2_Missense_Mutation_p.T735K	p.T716K	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2282_2283	+			716			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	DNP	ENST00000308128.4	37	c.2147_2148CC>AG	CCDS11897.1																																																																																				0.619	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		62	65	0	0	0	0.004672	0	62	65				
ASXL3	80816	broad.mit.edu	37	18	31324568	31324568	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:31324568C>G	ENST00000269197.5	+	12	4756	c.4756C>G	c.(4756-4758)Cca>Gca	p.P1586A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1586					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGCACGTGGCCCAGCTCCTTT	0.498											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(4756-4758)CCA>GCA		additional sex combs like 3							26.0	25.0	25.0					18																	31324568		1947	4160	6107	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324568C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4756C>G	18.37:g.31324568C>G	ENSP00000269197:p.Pro1586Ala		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.P1293A	p.P1586A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4811	+			1586					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4756C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443741	0.12164	.	.	ENSG00000141431	ENST00000269197	T	0.15372	2.43	5.87	-0.338	0.12651	.	.	.	.	.	T	0.10035	0.0246	N	0.24115	0.695	0.09310	N	1	B	0.24483	0.104	B	0.18871	0.023	T	0.28235	-1.0050	9	0.66056	D	0.02	.	5.3539	0.16050	0.3152:0.4857:0.0:0.1991	.	1586	Q9C0F0	ASXL3_HUMAN	A	1586	ENSP00000269197:P1586A	ENSP00000269197:P1586A	P	+	1	0	ASXL3	29578566	0.987000	0.35691	0.007000	0.13788	0.414000	0.31173	0.959000	0.29240	-0.284000	0.09102	0.655000	0.94253	CCA		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			23	5	0	0	0	0.004656	0	23	5				
DTNA	1837	broad.mit.edu	37	18	32391950	32391950	+	Missense_Mutation	SNP	G	G	T	rs147115867	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:32391950G>T	ENST00000399113.3	+	5	476	c.476G>T	c.(475-477)aGt>aTt	p.S159I	DTNA_ENST00000598334.1_Missense_Mutation_p.S159I|DTNA_ENST00000348997.5_Missense_Mutation_p.S159I|DTNA_ENST00000598774.1_Missense_Mutation_p.S159I|DTNA_ENST00000597599.1_Missense_Mutation_p.S159I|DTNA_ENST00000269190.7_Missense_Mutation_p.S159I|DTNA_ENST00000444659.1_Missense_Mutation_p.S159I|DTNA_ENST00000399121.5_Missense_Mutation_p.S159I|DTNA_ENST00000283365.9_Missense_Mutation_p.S159I|DTNA_ENST00000554864.3_Missense_Mutation_p.S159I|DTNA_ENST00000596745.1_Missense_Mutation_p.S159I|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000595022.1_Missense_Mutation_p.S159I|DTNA_ENST00000598142.1_Missense_Mutation_p.S159I|DTNA_ENST00000315456.6_Missense_Mutation_p.S159I|DTNA_ENST00000269191.6_Missense_Mutation_p.S159I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	159	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTGACTCCAGTGGGGTGATG	0.383																																							uc010dmn.1		NA																	0					0						c.(475-477)AGT>ATT		dystrobrevin alpha isoform 1							113.0	108.0	110.0					18																	32391950		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32391950G>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.476G>T	18.37:g.32391950G>T	ENSP00000382064:p.Ser159Ile					DTNA_uc002kxu.2_Missense_Mutation_p.S159I|DTNA_uc010xbx.1_Missense_Mutation_p.S159I|DTNA_uc002kxv.3_Missense_Mutation_p.S159I|DTNA_uc002kxw.2_Missense_Mutation_p.S159I|DTNA_uc002kxx.2_Missense_Mutation_p.S159I|DTNA_uc010dmj.2_Missense_Mutation_p.S159I|DTNA_uc002kxz.2_Missense_Mutation_p.S159I|DTNA_uc002kxy.2_Missense_Mutation_p.S159I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.S159I|DTNA_uc002kyb.3_Missense_Mutation_p.S159I|DTNA_uc010dmm.2_Missense_Mutation_p.S159I	p.S159I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			5	477	+			159			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.476G>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545458	0.65198	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.8	3.02	0.34903	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.207411	0.51477	D	0.000088	T	0.67411	0.2890	L	0.52573	1.65	0.80722	D	1	B;B;P;P;B;B;B;P;B;B;B;B	0.40144	0.411;0.316;0.704;0.592;0.214;0.404;0.363;0.464;0.254;0.214;0.358;0.214	B;P;P;P;B;B;B;B;B;B;B;B	0.45971	0.086;0.464;0.499;0.477;0.162;0.222;0.436;0.251;0.197;0.162;0.053;0.124	T	0.66878	-0.5812	10	0.72032	D	0.01	-6.3684	7.2114	0.25935	0.2011:0.1206:0.6784:0.0	.	159;159;159;159;159;159;159;170;159;159;159;159	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	I	159	ENSP00000283365:S159I;ENSP00000322519:S159I;ENSP00000269190:S159I;ENSP00000336682:S159I;ENSP00000382072:S159I;ENSP00000405819:S159I;ENSP00000269191:S159I;ENSP00000382064:S159I	ENSP00000269190:S159I	S	+	2	0	DTNA	30645948	0.931000	0.31567	1.000000	0.80357	0.998000	0.95712	2.200000	0.42724	0.793000	0.33875	0.563000	0.77884	AGT		0.383	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		32	24	1	0	2.08457e-15	0.010818	2.53459e-15	32	24				
TCEB3B	51224	broad.mit.edu	37	18	44559566	44559566	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:44559566G>C	ENST00000332567.4	-	1	2422	c.2070C>G	c.(2068-2070)agC>agG	p.S690R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	690					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						caccgccgctgctgctCTGGC	0.662																																							uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2068-2070)AGC>AGG		elongin A2							34.0	40.0	38.0					18																	44559566		2201	4299	6500	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559566G>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2070C>G	18.37:g.44559566G>C	ENSP00000331302:p.Ser690Arg					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.S690R	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2423	-			690					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.2070C>G	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	0.875	-0.730555	0.03135	.	.	ENSG00000206181	ENST00000332567	T	0.06933	3.24	0.963	-0.106	0.13596	.	0.249592	0.20884	U	0.083944	T	0.04318	0.0119	N	0.22421	0.69	0.09310	N	1	B	0.23650	0.089	B	0.20955	0.032	T	0.46076	-0.9217	10	0.14252	T	0.57	-0.7068	5.9453	0.19215	0.2392:0.0:0.7608:0.0	.	690	Q8IYF1	ELOA2_HUMAN	R	690	ENSP00000331302:S690R	ENSP00000331302:S690R	S	-	3	2	TCEB3B	42813564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.648000	0.05391	-0.663000	0.05331	-1.021000	0.02439	AGC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		61	39	0	0	0	0.00361	0	61	39				
ME2	4200	broad.mit.edu	37	18	48422209	48422209	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:48422209G>A	ENST00000321341.5	+	2	291	c.19G>A	c.(19-21)Gta>Ata	p.V7I	ME2_ENST00000382927.3_Missense_Mutation_p.V7I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	7					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CCGGTTAAGAGTAGTTTCCAC	0.388																																							uc002ley.2		NA																	0					0						c.(19-21)GTA>ATA		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						95.0	85.0	89.0					18																	48422209		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48422209G>A	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.19G>A	18.37:g.48422209G>A	ENSP00000321070:p.Val7Ile					ME2_uc010dpd.2_Missense_Mutation_p.V7I	p.V7I	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	2	275	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	7					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.19G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	6.462	0.453371	0.12283	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.17213	2.29;2.29	6.07	0.886	0.19194	.	1.367990	0.04306	N	0.348174	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36720	-0.9736	10	0.14252	T	0.57	-3.1935	11.9231	0.52803	0.2781:0.0:0.7219:0.0	.	7;7	Q9BWL6;P23368	.;MAOM_HUMAN	I	7	ENSP00000321070:V7I;ENSP00000372384:V7I	ENSP00000321070:V7I	V	+	1	0	ME2	46676207	0.004000	0.15560	0.001000	0.08648	0.791000	0.44710	-0.237000	0.08990	-0.117000	0.11872	0.655000	0.94253	GTA		0.388	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		28	17	0	0	0	0.00632	0	28	17				
TCF4	6925	broad.mit.edu	37	18	52942913	52942913	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:52942913C>A	ENST00000356073.4	-	10	1337	c.726G>T	c.(724-726)ttG>ttT	p.L242F	TCF4_ENST00000543082.1_Missense_Mutation_p.L200F|TCF4_ENST00000544241.2_Missense_Mutation_p.L171F|TCF4_ENST00000565018.2_Missense_Mutation_p.L242F|TCF4_ENST00000561992.1_Missense_Mutation_p.L112F|TCF4_ENST00000540999.1_Missense_Mutation_p.L218F|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564228.1_Missense_Mutation_p.L171F|TCF4_ENST00000566286.1_Missense_Mutation_p.L240F|TCF4_ENST00000568740.1_Missense_Mutation_p.L217F|TCF4_ENST00000561831.3_Missense_Mutation_p.L82F|TCF4_ENST00000566279.1_Missense_Mutation_p.L182F|TCF4_ENST00000457482.3_Missense_Mutation_p.L82F|TCF4_ENST00000570287.2_Missense_Mutation_p.L82F|TCF4_ENST00000564403.2_Missense_Mutation_p.L248F|TCF4_ENST00000354452.3_Missense_Mutation_p.L242F|TCF4_ENST00000570177.2_Missense_Mutation_p.L112F|TCF4_ENST00000537856.3_Missense_Mutation_p.L112F|TCF4_ENST00000564999.1_Missense_Mutation_p.L242F|TCF4_ENST00000567880.1_Missense_Mutation_p.L182F|TCF4_ENST00000398339.1_Missense_Mutation_p.L344F|TCF4_ENST00000568673.1_Missense_Mutation_p.L218F|TCF4_ENST00000537578.1_Missense_Mutation_p.L218F	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	242					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGTTGCCCAACATTCCTG	0.502																																							uc002lfz.2		NA																	0				ovary(1)|lung(1)	2						c.(724-726)TTG>TTT		transcription factor 4 isoform b							235.0	216.0	222.0					18																	52942913		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52942913C>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.726G>T	18.37:g.52942913C>A	ENSP00000348374:p.Leu242Phe					TCF4_uc002lfw.3_Missense_Mutation_p.L82F|TCF4_uc010xdu.1_Missense_Mutation_p.L112F|TCF4_uc010xdv.1_Missense_Mutation_p.L112F|TCF4_uc002lfx.2_Missense_Mutation_p.L171F|TCF4_uc010xdw.1_Missense_Mutation_p.L112F|TCF4_uc002lfy.2_Missense_Mutation_p.L200F|TCF4_uc010xdx.1_Missense_Mutation_p.L218F|TCF4_uc010dph.1_Missense_Mutation_p.L242F|TCF4_uc010xdy.1_Missense_Mutation_p.L218F|TCF4_uc002lga.2_Missense_Mutation_p.L344F|TCF4_uc002lgb.1_Missense_Mutation_p.L82F|TCF4_uc010dpi.2_Missense_Mutation_p.L248F|TCF4_uc002lgc.3_Missense_Mutation_p.L163F|TCF4_uc002lfv.2_Missense_Mutation_p.L26F	p.L242F	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	10	1338	-			242					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.726G>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641323	0.67244	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.87	4.99	0.66335	.	0.070496	0.56097	D	0.000034	T	0.71913	0.3396	M	0.83953	2.67	0.54753	D	0.99998	B;D;P;D;D;P;B;P;P;D	0.76494	0.389;0.995;0.749;0.999;0.999;0.948;0.389;0.57;0.905;0.992	B;D;B;D;D;B;B;B;P;P	0.91635	0.339;0.962;0.339;0.967;0.999;0.391;0.339;0.339;0.517;0.868	T	0.75611	-0.3258	10	0.87932	D	0	-4.6586	9.5538	0.39326	0.1409:0.7858:0.0:0.0733	.	218;242;218;82;344;242;200;171;82;240	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	F	242;82;242;200;218;218;171;112;344	ENSP00000346440:L242F;ENSP00000409447:L82F;ENSP00000348374:L242F;ENSP00000439656:L200F;ENSP00000445202:L218F;ENSP00000440731:L218F;ENSP00000441562:L171F;ENSP00000439827:L112F;ENSP00000381382:L344F	ENSP00000346440:L242F	L	-	3	2	TCF4	51093911	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.165000	0.31822	1.599000	0.50093	0.655000	0.94253	TTG		0.502	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		137	131	1	0	5.40711e-61	0.00361	8.35799e-61	137	131				
SERPINB5	5268	broad.mit.edu	37	18	61154262	61154262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:61154262C>A	ENST00000382771.4	+	3	544	c.252C>A	c.(250-252)taC>taA	p.Y84*	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Nonsense_Mutation_p.Y84*	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	84					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GTTCCTTTTACTCACTGAAAC	0.338																																							uc002liz.3		NA																	0				ovary(1)	1						c.(250-252)TAC>TAA		serine (or cysteine) proteinase inhibitor, clade							102.0	99.0	100.0					18																	61154262		2203	4300	6503	SO:0001587	stop_gained	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154262C>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.252C>A	18.37:g.61154262C>A	ENSP00000372221:p.Tyr84*					SERPINB5_uc002liy.2_Nonsense_Mutation_p.Y84*	p.Y84*	NM_002639	NP_002630	P36952	SPB5_HUMAN			3	394	+			84					B2R6Y4|Q6N0B4|Q8WW89	Nonsense_Mutation	SNP	ENST00000382771.4	37	c.252C>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876385	0.91664	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	.	.	.	5.12	0.0868	0.14448	.	0.200275	0.34906	N	0.003581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0855	0.42415	0.0:0.5627:0.0:0.4373	.	.	.	.	X	84	.	ENSP00000372221:Y84X	Y	+	3	2	SERPINB5	59305242	0.984000	0.35163	0.722000	0.30670	0.986000	0.74619	0.009000	0.13219	-0.214000	0.10078	0.650000	0.86243	TAC		0.338	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		47	29	1	0	1.00776e-21	0.00361	1.31155e-21	47	29				
SERPINB3	6317	broad.mit.edu	37	18	61323253	61323253	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:61323253T>G	ENST00000283752.5	-	8	954	c.811A>C	c.(811-813)Agt>Cgt	p.S271R	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.S219R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	271					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTCTGCAAACTTGTCCATTCC	0.388																																							uc002lji.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(811-813)AGT>CGT		serine (or cysteine) proteinase inhibitor, clade							112.0	99.0	103.0					18																	61323253		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323253T>G	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.811A>C	18.37:g.61323253T>G	ENSP00000283752:p.Ser271Arg					SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.S219R	p.S271R	NM_006919	NP_008850	P29508	SPB3_HUMAN			8	955	-			271					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.811A>C	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705530	0.30232	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84660	-1.88;-1.88	3.07	1.82	0.25136	Serpin domain (3);	0.134260	0.33895	N	0.004452	T	0.77011	0.4068	L	0.31804	0.96	0.09310	N	1	B;P	0.47484	0.289;0.896	B;P	0.49276	0.17;0.605	T	0.65549	-0.6141	10	0.19590	T	0.45	.	5.4787	0.16710	0.0:0.1033:0.1771:0.7196	.	219;271	P29508-2;P29508	.;SPB3_HUMAN	R	271;219	ENSP00000283752:S271R;ENSP00000329498:S219R	ENSP00000283752:S271R	S	-	1	0	SERPINB3	59474233	0.000000	0.05858	0.026000	0.17262	0.076000	0.17211	0.469000	0.22067	0.537000	0.28751	0.369000	0.22263	AGT		0.388	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		15	70	0	0	0	0.003163	0	15	70				
ATP9B	374868	broad.mit.edu	37	18	77105831	77105831	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:77105831G>A	ENST00000426216.2	+	23	2691	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	RP11-800A18.4_ENST00000592906.1_RNA|ATP9B_ENST00000307671.7_Missense_Mutation_p.E892K|ATP9B_ENST00000543761.1_Missense_Mutation_p.E213K	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	892					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATTGGGATTGAGGGAAAGGT	0.468																																							uc002lmx.2		NA																	0				ovary(3)	3						c.(2674-2676)GAG>AAG		ATPase, class II, type 9B							254.0	229.0	237.0					18																	77105831		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77105831G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2674G>A	18.37:g.77105831G>A	ENSP00000398076:p.Glu892Lys					ATP9B_uc002lmw.1_Missense_Mutation_p.E892K|ATP9B_uc002lmz.1_Missense_Mutation_p.E586K|ATP9B_uc002lna.2_5'UTR|ATP9B_uc002lnb.1_Missense_Mutation_p.E12K|ATP9B_uc010drb.2_5'Flank	p.E892K	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	23	2688	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	892			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.2674G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852593	0.91355	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;T	0.80909	-1.43;-1.43;-0.26	4.74	4.74	0.60224	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	L	0.40543	1.245	0.80722	D	1	B;P;P;P	0.50528	0.314;0.692;0.895;0.936	B;P;P;P	0.51415	0.041;0.541;0.468;0.669	T	0.81911	-0.0716	10	0.44086	T	0.13	.	17.3524	0.87327	0.0:0.0:1.0:0.0	.	265;213;892;892	B3KSI8;F5H8J1;O43861;O43861-2	.;.;ATP9B_HUMAN;.	K	892;892;213	ENSP00000398076:E892K;ENSP00000304500:E892K;ENSP00000442015:E213K	ENSP00000304500:E892K	E	+	1	0	ATP9B	75206819	1.000000	0.71417	0.929000	0.37066	0.889000	0.51656	9.030000	0.93725	2.193000	0.70182	0.655000	0.94253	GAG		0.468	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		57	183	0	0	0	0.00361	0	57	183				
POLR2E	5434	broad.mit.edu	37	19	1094056	1094056	+	Missense_Mutation	SNP	G	G	C	rs201623153		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:1094056G>C	ENST00000215587.7	-	2	362	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	POLR2E_ENST00000585838.1_5'Flank|POLR2E_ENST00000586746.1_Missense_Mutation_p.L27V			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	27					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTCACCAGATAGCCACGG	0.637																																							uc002lre.3		NA																	0					0						c.(79-81)CTG>GTG		DNA directed RNA polymerase II polypeptide E							45.0	40.0	42.0					19																	1094056		2203	4300	6503	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1094056G>C		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.79C>G	19.37:g.1094056G>C	ENSP00000215587:p.Leu27Val					POLR2E_uc010xgf.1_Intron	p.L27V	NM_002695	NP_002686	P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	156	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	27					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.79C>G	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093598	0.36952	.	.	ENSG00000099817	ENST00000215587	T	0.44083	0.93	3.64	2.52	0.30459	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.64402	D	0.000004	T	0.36303	0.0962	L	0.54965	1.715	0.58432	D	0.999994	B	0.23128	0.08	B	0.32090	0.14	T	0.31998	-0.9923	10	0.44086	T	0.13	-2.5371	6.0778	0.19925	0.3129:0.0:0.6871:0.0	.	27	P19388	RPAB1_HUMAN	V	27	ENSP00000215587:L27V	ENSP00000215587:L27V	L	-	1	2	POLR2E	1045056	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.930000	0.40124	1.884000	0.54569	0.511000	0.50034	CTG		0.637	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		11	45	0	0	0	0.001368	0	11	45				
DAZAP1	26528	broad.mit.edu	37	19	1434826	1434826	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:1434826G>T	ENST00000233078.4	+	12	1300	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	380	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGTGCCAGGGTcggggggc	0.706																																							uc002lsn.2		NA																	0				breast(1)	1						c.(1138-1140)GGG>GTG		DAZ associated protein 1 isoform b							15.0	18.0	17.0					19																	1434826		2200	4296	6496	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434826G>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1139G>T	19.37:g.1434826G>T	ENSP00000233078:p.Gly380Val					DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.G379V|DAZAP1_uc002lsl.1_Missense_Mutation_p.G379V	p.G380V	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1328	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	380			Pro-rich.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.1139G>T	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559573	0.45590	.	.	ENSG00000071626	ENST00000233078	T	0.36699	1.24	5.26	5.26	0.73747	.	0.216763	0.47852	D	0.000215	T	0.21267	0.0512	N	0.08118	0	0.54753	D	0.999987	B;B;B	0.18968	0.019;0.019;0.032	B;B;B	0.16289	0.007;0.007;0.015	T	0.05468	-1.0883	10	0.59425	D	0.04	.	12.9791	0.58554	0.0:0.275:0.725:0.0	.	447;380;146	Q5IRN4;Q96EP5;B3KS63	.;DAZP1_HUMAN;.	V	380	ENSP00000233078:G380V	ENSP00000233078:G380V	G	+	2	0	DAZAP1	1385826	1.000000	0.71417	0.200000	0.23457	0.908000	0.53690	4.981000	0.63819	2.454000	0.82982	0.561000	0.74099	GGG		0.706	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		22	18	1	0	1.22574e-08	0.002299	1.35121e-08	22	18				
CSNK1G2	1455	broad.mit.edu	37	19	1954019	1954019	+	Intron	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:1954019G>T	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000314315.3_RNA|CSNK1G2-AS1_ENST00000586395.1_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTCCGAGGACCGGCCCTG	0.637																																					Ovarian(91;880 1392 21236 36928 37598)		uc002lum.2		NA																	0					0						c.(16-18)CCT>ACT		chromosome 19 open reading frame 34							105.0	121.0	116.0					19																	1954019		2163	4248	6411	SO:0001627	intron_variant	255193							g.chr19:1954019G>T	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+12602G>T	19.37:g.1954019G>T						CSNK1G2_uc002lul.3_Intron	p.P6T	NM_152771	NP_689984				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	473	-		Ovarian(11;0.000137)						B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	c.16C>A	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	g	5.764	0.325345	0.10900	.	.	ENSG00000180846	ENST00000314315	.	.	.	0.724	-0.464	0.12160	.	.	.	.	.	T	0.38214	0.1032	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.50791	0.65	T	0.26224	-1.0109	6	0.87932	D	0	.	.	.	.	.	6	Q8NCQ2	CS034_HUMAN	T	6	.	ENSP00000315669:P6T	P	-	1	0	C19orf34	1905019	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	-0.095000	0.11077	-0.136000	0.11475	-0.350000	0.07774	CCT		0.637	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		122	99	1	0	1.22182e-49	0.00361	1.84782e-49	122	99				
HDGFRP2	84717	broad.mit.edu	37	19	4498882	4498882	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:4498882G>A	ENST00000301284.4	+	13	1609	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	HDGFRP2_ENST00000586684.1_Silent_p.K515K	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		515					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCCTCCAGAAGAACACAGACG	0.637																																							uc002mao.2		NA																	0					0						c.(1543-1545)AAG>AAA		hepatoma-derived growth factor-related protein 2							36.0	38.0	38.0					19																	4498882		1972	4163	6135	SO:0001819	synonymous_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498882G>A																												ENST00000301284.4:c.1545G>A	19.37:g.4498882G>A						HDGFRP2_uc002map.2_Silent_p.K515K|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'Flank|HDGFRP2_uc002maq.1_5'Flank	p.K515K	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			13	1638	+			515					I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	c.1545G>A	CCDS42472.1																																																																																				0.637	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	21	0	0	0	0.00308	0	7	21				
TUBB4A	10382	broad.mit.edu	37	19	6495195	6495195	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:6495195C>A	ENST00000264071.2	-	4	1686	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A439S|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	439					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TCCTCCTCCGCCTCCTCCTCG	0.617																																							uc002mfg.1		NA																	0				ovary(2)	2						c.(1315-1317)GCG>TCG		tubulin, beta 4							69.0	63.0	65.0					19																	6495195		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495195C>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1315G>T	19.37:g.6495195C>A	ENSP00000264071:p.Ala439Ser					TUBB4_uc002mff.1_Missense_Mutation_p.A367S|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.A439S	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1422	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	439					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1315G>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580138	0.28180	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.69561	-0.41;-0.41	3.13	2.06	0.26882	.	0.275262	0.28203	U	0.016211	T	0.55832	0.1945	L	0.34521	1.04	0.29638	N	0.844938	P	0.38711	0.643	B	0.41691	0.364	T	0.57219	-0.7849	10	0.87932	D	0	.	9.1447	0.36925	0.0:0.8818:0.0:0.1182	.	439	P04350	TBB4A_HUMAN	S	439;439;357	ENSP00000264071:A439S;ENSP00000443590:A439S	ENSP00000264071:A439S	A	-	1	0	TUBB4	6446195	0.987000	0.35691	0.999000	0.59377	0.930000	0.56654	5.881000	0.69706	0.423000	0.26033	0.306000	0.20318	GCG		0.617	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		64	32	1	0	5.10508e-28	0.00361	7.04645e-28	64	32				
TRIP10	9322	broad.mit.edu	37	19	6750366	6750366	+	Missense_Mutation	SNP	G	G	A	rs570070015		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:6750366G>A	ENST00000313244.9	+	13	1494	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.A431T|TRIP10_ENST00000600428.1_Missense_Mutation_p.A323T|TRIP10_ENST00000313285.8_Missense_Mutation_p.A431T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	487	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCCGGCACGCCCGGCCTCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		11222	0.001		0.0	False		,,,				2504	0.0						uc002mfs.2		NA																	0				ovary(1)	1						c.(1459-1461)GCC>ACC		thyroid hormone receptor interactor 10							44.0	54.0	51.0					19																	6750366		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750366G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1459G>A	19.37:g.6750366G>A	ENSP00000320117:p.Ala487Thr					TRIP10_uc010dux.1_Missense_Mutation_p.A431T|TRIP10_uc002mfr.2_Missense_Mutation_p.A431T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.A250T	p.A487T	NM_004240	NP_004231	Q15642	CIP4_HUMAN			13	1525	+			487	ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).		Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1459G>A		.	.	.	.	.	.	.	.	.	.	G	11.39	1.624431	0.28889	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.73152	-0.72;-0.72	5.33	-10.7	0.00240	.	0.879913	0.10066	N	0.720272	T	0.38081	0.1027	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.14012	0.009;0.0;0.002	B;B;B	0.13407	0.009;0.001;0.002	T	0.33445	-0.9868	10	0.35671	T	0.21	-1.9851	8.1465	0.31115	0.2208:0.108:0.5836:0.0876	.	431;487;431	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	T	431;487;431	ENSP00000320493:A431T;ENSP00000320117:A487T	ENSP00000320117:A487T	A	+	1	0	TRIP10	6701366	0.000000	0.05858	0.029000	0.17559	0.615000	0.37417	-1.615000	0.02055	-2.805000	0.00350	0.313000	0.20887	GCC		0.657	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			7	105	0	0	0	0.001984	0	7	105				
MYO1F	4542	broad.mit.edu	37	19	8615449	8615449	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:8615449C>A	ENST00000338257.8	-	9	1168	c.901G>T	c.(901-903)Gac>Tac	p.D301Y	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	301	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACTCACGGTCCACACTCTCC	0.612																																							uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(901-903)GAC>TAC		myosin IF							80.0	85.0	83.0					19																	8615449		2040	4192	6232	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8615449C>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.901G>T	19.37:g.8615449C>A	ENSP00000344871:p.Asp301Tyr					MYO1F_uc002mkh.2_Missense_Mutation_p.D301Y	p.D301Y	NM_012335	NP_036467	O00160	MYO1F_HUMAN			9	1015	-			301			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.901G>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042638	0.55003	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88124	-2.34	4.42	4.42	0.53409	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.66378	2.025	0.80722	D	1	D;D	0.58970	0.984;0.984	D;D	0.65323	0.934;0.934	D	0.93019	0.6438	10	0.72032	D	0.01	.	16.0297	0.80570	0.0:1.0:0.0:0.0	.	301;301	B0I1T1;O00160	.;MYO1F_HUMAN	Y	346;301	ENSP00000344871:D301Y	ENSP00000304899:D346Y	D	-	1	0	MYO1F	8521449	1.000000	0.71417	0.907000	0.35723	0.192000	0.23643	5.805000	0.69143	2.025000	0.59659	0.557000	0.71058	GAC		0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			33	19	1	0	7.11191e-15	0.002836	8.52038e-15	33	19				
MUC16	94025	broad.mit.edu	37	19	9009594	9009594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9009594C>A	ENST00000397910.4	-	39	39335	c.39132G>T	c.(39130-39132)caG>caT	p.Q13044H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13046	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAACCAGACCCTGCAGGACCC	0.552																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39130-39132)CAG>CAT		mucin 16							183.0	153.0	163.0					19																	9009594		2011	4174	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009594C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39132G>T	19.37:g.9009594C>A	ENSP00000381008:p.Gln13044His					MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.Q13044H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			39	39336	-			13046			Extracellular (Potential).|SEA 7.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39132G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	5.843	0.339694	0.11069	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.23147	1.92	3.01	0.761	0.18448	.	.	.	.	.	T	0.47173	0.1431	M	0.87547	2.89	.	.	.	D	0.69078	0.997	D	0.64237	0.923	T	0.55982	-0.8054	8	0.87932	D	0	-5.1771	5.7851	0.18329	0.0:0.7185:0.0:0.2815	.	13044	B5ME49	.	H	13044;197	ENSP00000381008:Q13044H	ENSP00000381008:Q13044H	Q	-	3	2	MUC16	8870594	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.715000	0.04997	0.121000	0.18284	-0.679000	0.03777	CAG		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		145	75	1	0	2.78738e-67	0.00361	4.36363e-67	145	75				
MUC16	94025	broad.mit.edu	37	19	9049824	9049824	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9049824G>T	ENST00000397910.4	-	5	32010	c.31807C>A	c.(31807-31809)Cct>Act	p.P10603T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10605	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTGCAGGATGGATAACC	0.478																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31807-31809)CCT>ACT		mucin 16							128.0	119.0	122.0					19																	9049824		1910	4127	6037	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049824G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31807C>A	19.37:g.9049824G>T	ENSP00000381008:p.Pro10603Thr						p.P10603T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32011	-			10605			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31807C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.966	0.362195	0.11296	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	2.96	-4.22	0.03800	.	.	.	.	.	T	0.06645	0.0170	L	0.50333	1.59	.	.	.	D	0.61697	0.99	P	0.58620	0.842	T	0.16305	-1.0407	8	0.87932	D	0	.	1.0072	0.01489	0.243:0.3496:0.2425:0.1649	.	10603	B5ME49	.	T	10603	ENSP00000381008:P10603T	ENSP00000381008:P10603T	P	-	1	0	MUC16	8910824	0.000000	0.05858	0.014000	0.15608	0.112000	0.19704	-0.779000	0.04659	-0.800000	0.04433	0.450000	0.29827	CCT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		88	44	1	0	6.31949e-53	0.00361	9.6017e-53	88	44				
MUC16	94025	broad.mit.edu	37	19	9073419	9073419	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9073419G>A	ENST00000397910.4	-	3	14230	c.14027C>T	c.(14026-14028)aCc>aTc	p.T4676I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4678	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCATGTGGGTAGATATTGT	0.468																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14026-14028)ACC>ATC		mucin 16							162.0	151.0	155.0					19																	9073419		1908	4134	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073419G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14027C>T	19.37:g.9073419G>A	ENSP00000381008:p.Thr4676Ile						p.T4676I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14231	-			4678			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14027C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.475	0.647508	0.14516	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.6	0.489	0.16854	.	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	P	0.39809	0.689	B	0.32022	0.139	T	0.43278	-0.9401	8	0.87932	D	0	.	5.166	0.15086	0.0:0.0:0.6592:0.3408	.	4676	B5ME49	.	I	4676	ENSP00000381008:T4676I	ENSP00000381008:T4676I	T	-	2	0	MUC16	8934419	0.000000	0.05858	0.002000	0.10522	0.686000	0.39977	-0.182000	0.09726	0.208000	0.20626	0.313000	0.20887	ACC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		107	74	0	0	0	0.00361	0	107	74				
OR7E24	26648	broad.mit.edu	37	19	9362033	9362033	+	Missense_Mutation	SNP	C	C	A	rs553397542		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9362033C>A	ENST00000456448.1	+	1	428	c.314C>A	c.(313-315)aCt>aAt	p.T105N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GACATGCAAACTCACAGCAGA	0.498													c|||	1	0.000199681	0.0	0.0	5008	,	,		21503	0.0		0.0	False		,,,				2504	0.001						uc002mlb.1		NA																	0				skin(1)	1						c.(313-315)ACT>AAT		olfactory receptor, family 7, subfamily E,							66.0	65.0	65.0					19																	9362033		2196	4297	6493	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362033C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.314C>A	19.37:g.9362033C>A	ENSP00000387523:p.Thr105Asn						p.T105N	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	314	+			105			Extracellular (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.314C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.302	0.613236	0.14066	.	.	ENSG00000237521	ENST00000456448	T	0.03035	4.07	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05823	0.0152	L	0.57130	1.785	0.09310	N	1	P	0.52842	0.956	P	0.45660	0.489	T	0.34775	-0.9815	9	0.66056	D	0.02	.	4.9415	0.13967	0.2374:0.5297:0.2328:0.0	.	105	Q6IFN5	O7E24_HUMAN	N	105	ENSP00000387523:T105N	ENSP00000387523:T105N	T	+	2	0	OR7E24	9223033	0.000000	0.05858	0.003000	0.11579	0.087000	0.18053	-0.410000	0.07151	1.349000	0.45751	0.430000	0.28490	ACT		0.498	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			58	27	1	0	3.31993e-32	0.00361	4.69485e-32	58	27				
S1PR2	9294	broad.mit.edu	37	19	10334521	10334521	+	Nonstop_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:10334521C>G	ENST00000590320.1	-	2	1171	c.1061G>C	c.(1060-1062)tGa>tCa	p.*354S	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	0					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCCACCCTCAGACCACCGT	0.652																																					Pancreas(194;229 3020 15179 45747)	Pancreas(194;229 3020 15179 45747)	uc002mnl.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1060-1062)TGA>TCA		endothelial differentiation, sphingolipid							27.0	32.0	30.0					19																	10334521		2200	4297	6497	SO:0001578	stop_lost	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334521C>G	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.1061G>C	19.37:g.10334521C>G							p.*354S	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	1172	-			354					Q86UN8	Nonstop_Mutation	SNP	ENST00000590320.1	37	c.1061G>C	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	9.191	1.026133	0.19512	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6865	0.88257	0.0:1.0:0.0:0.0	.	.	.	.	S	354	.	.	X	-	2	2	S1PR2	10195521	0.994000	0.37717	0.996000	0.52242	0.494000	0.33585	3.937000	0.56575	2.476000	0.83614	0.556000	0.70494	TGA		0.652	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		14	41	0	0	0	0.003163	0	14	41				
CDKN2D	1032	broad.mit.edu	37	19	10677815	10677815	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:10677815G>C	ENST00000393599.2	-	2	744	c.420C>G	c.(418-420)ctC>ctG	p.L140L	KRI1_ENST00000361821.5_5'Flank|CDKN2D_ENST00000335766.2_Silent_p.L140L|KRI1_ENST00000312962.6_5'Flank|KRI1_ENST00000537964.1_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	140					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCAAGGGTGTGAGACCCCTGG	0.612																																							uc002mpa.2		NA																	0					0						c.(418-420)CTC>CTG		cyclin-dependent kinase inhibitor 2D							88.0	88.0	88.0					19																	10677815		2203	4300	6503	SO:0001819	synonymous_variant	1032	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:10677815G>C		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.420C>G	19.37:g.10677815G>C						KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.L140L	p.L140L	NM_001800	NP_001791	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		2	722	-			140			ANK 4.		Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.420C>G	CCDS12244.1																																																																																				0.612	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		27	92	0	0	0	0.004656	0	27	92				
ZNF791	163049	broad.mit.edu	37	19	12735466	12735466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:12735466G>T	ENST00000343325.4	+	3	295	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.E13*|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	45	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)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CATTTTAGGGGAAAAATGGGA	0.328																																							uc002mua.2		NA																	0				ovary(2)	2						c.(133-135)GAA>TAA		zinc finger protein 791							50.0	48.0	48.0					19																	12735466		2203	4300	6503	SO:0001587	stop_gained	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12735466G>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.133G>T	19.37:g.12735466G>T	ENSP00000342974:p.Glu45*					ZNF791_uc010xml.1_Nonsense_Mutation_p.E13*|ZNF791_uc010dyu.1_Intron|ZNF791_uc010xmm.1_5'UTR	p.E45*	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			3	295	+			45			KRAB.		B7Z586|Q8NC99	Nonsense_Mutation	SNP	ENST00000343325.4	37	c.133G>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	g	11.28	1.592516	0.28357	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	.	.	.	1.51	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	3.1108	0.06357	0.358:0.2516:0.3904:0.0	.	.	.	.	X	45;45;13	.	ENSP00000342974:E45X	E	+	1	0	ZNF791	12596466	0.005000	0.15991	0.000000	0.03702	0.046000	0.14306	-0.736000	0.04882	-1.119000	0.02958	-0.728000	0.03583	GAA		0.328	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		6	18	1	0	0.00116845	0.001168	0.00119778	6	18				
AKAP8L	26993	broad.mit.edu	37	19	15508056	15508056	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15508056C>A	ENST00000397410.5	-	12	1571	c.1441G>T	c.(1441-1443)Gca>Tca	p.A481S	AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Missense_Mutation_p.A420S	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	481						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAATGGGCTGCCTCCACCTTC	0.547																																							uc002naw.1		NA																	0				ovary(1)	1						c.(1441-1443)GCA>TCA		A kinase (PRKA) anchor protein 8-like							80.0	87.0	84.0					19																	15508056		2040	4197	6237	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508056C>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1441G>T	19.37:g.15508056C>A	ENSP00000380557:p.Ala481Ser					AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.A420S	p.A481S	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			12	1540	-			481					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1441G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.914358	0.92178	.	.	ENSG00000011243	ENST00000397410	T	0.53206	0.63	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.61703	1.905	0.46701	D	0.999165	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69781	-0.5052	10	0.72032	D	0.01	-11.3614	17.9807	0.89140	0.0:1.0:0.0:0.0	.	420;481	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	S	481	ENSP00000380557:A481S	ENSP00000380557:A481S	A	-	1	0	AKAP8L	15369056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.188000	0.77739	2.537000	0.85549	0.580000	0.79431	GCA		0.547	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		68	32	1	0	3.45129e-13	0.00361	4.06522e-13	68	32				
CYP4F22	126410	broad.mit.edu	37	19	15648351	15648351	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15648351G>T	ENST00000269703.3	+	6	626	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.G143W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	143						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCAGGGGATGGGCTGCTGCT	0.557																																							uc002nbh.3		NA																	0				ovary(1)|pancreas(1)	2						c.(427-429)GGG>TGG		cytochrome P450, family 4, subfamily F,							58.0	60.0	59.0					19																	15648351		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648351G>T		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.427G>T	19.37:g.15648351G>T	ENSP00000269703:p.Gly143Trp						p.G143W	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			6	594	+			143					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.427G>T	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389710	0.61956	.	.	ENSG00000171954	ENST00000269703	T	0.73469	-0.75	5.27	4.22	0.49857	.	0.272329	0.38058	N	0.001833	D	0.89829	0.6828	H	0.96015	3.755	0.50467	D	0.999877	D	0.89917	1.0	D	0.97110	1.0	D	0.92213	0.5778	10	0.87932	D	0	.	12.8873	0.58051	0.0:0.0:0.8359:0.1641	.	143	Q6NT55	CP4FN_HUMAN	W	143	ENSP00000269703:G143W	ENSP00000269703:G143W	G	+	1	0	CYP4F22	15509351	1.000000	0.71417	0.082000	0.20525	0.972000	0.66771	4.444000	0.60001	1.195000	0.43115	0.313000	0.20887	GGG		0.557	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		64	32	1	0	2.36135e-34	0.00361	3.38818e-34	64	32				
CYP4F8	11283	broad.mit.edu	37	19	15734818	15734818	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15734818C>A	ENST00000441682.2	+	0	1090							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCTTGTACAACCTCGCGAGGC	0.602																																							uc002nbi.2		NA																	0				large_intestine(1)	1						c.(1027-1029)AAC>AAA		cytochrome P450, family 4, subfamily F,							49.0	47.0	48.0					19																	15734818		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734818C>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734818C>A						CYP4F8_uc010xoj.1_Missense_Mutation_p.N155K	p.N343K	NM_007253	NP_009184	P98187	CP4F8_HUMAN			11	1093	+			343						Missense_Mutation	SNP	ENST00000441682.2	37	c.1029C>A		.	.	.	.	.	.	.	.	.	.	.	14.60	2.582584	0.46006	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.11	3.11	0.35812	.	0.000000	0.85682	U	0.000000	T	0.62429	0.2427	.	.	.	0.45867	D	0.998724	D;D	0.71674	0.998;0.992	D;D	0.76071	0.987;0.968	T	0.68337	-0.5435	7	0.36615	T	0.2	.	5.9698	0.19346	0.0:0.8545:0.0:0.1455	.	155;343	B4DU85;P98187	.;CP4F8_HUMAN	K	342;155;192	.	ENSP00000314398:N155K	N	+	3	2	CYP4F8	15595818	1.000000	0.71417	0.991000	0.47740	0.707000	0.40811	2.363000	0.44178	1.563000	0.49615	0.411000	0.27672	AAC		0.602	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		48	30	1	0	2.64894e-19	0.00361	3.34101e-19	48	30				
PGLS	25796	broad.mit.edu	37	19	17628119	17628119	+	Missense_Mutation	SNP	C	C	T	rs201908078		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:17628119C>T	ENST00000252603.2	+	3	463	c.419C>T	c.(418-420)cCg>cTg	p.P140L	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	140					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						GACTCCATCCCGGTTTTCGAC	0.612																																							uc002ngw.2		NA																	0					0						c.(418-420)CCG>CTG		6-phosphogluconolactonase							129.0	135.0	133.0					19																	17628119		2203	4300	6503	SO:0001583	missense	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17628119C>T	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.419C>T	19.37:g.17628119C>T	ENSP00000252603:p.Pro140Leu						p.P140L	NM_012088	NP_036220	O95336	6PGL_HUMAN			3	469	+			140						Missense_Mutation	SNP	ENST00000252603.2	37	c.419C>T	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780219	0.90195	.	.	ENSG00000130313	ENST00000252603	T	0.50001	0.76	5.02	5.02	0.67125	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84417	0.0569	10	0.87932	D	0	-44.6472	15.8711	0.79119	0.0:1.0:0.0:0.0	.	140	O95336	6PGL_HUMAN	L	140	ENSP00000252603:P140L	ENSP00000252603:P140L	P	+	2	0	PGLS	17489119	1.000000	0.71417	0.913000	0.36048	0.880000	0.50808	7.000000	0.76290	2.335000	0.79485	0.478000	0.44815	CCG		0.612	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			155	91	0	0	0	0.00361	0	155	91				
ZNF208	7757	broad.mit.edu	37	19	22157605	22157605	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:22157605T>C	ENST00000397126.4	-	4	379	c.231A>G	c.(229-231)atA>atG	p.I77M	ZNF208_ENST00000599916.1_Missense_Mutation_p.I77M|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGAGAACATATAACTGAAA	0.294																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(229-231)ATA>ATG		zinc finger protein 208							21.0	20.0	21.0					19																	22157605		2034	4231	6265	SO:0001583	missense	7757							g.chr19:22157605T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.231A>G	19.37:g.22157605T>C	ENSP00000380315:p.Ile77Met					ZNF208_uc002nqo.1_Missense_Mutation_p.I77M|ZNF208_uc010ecw.1_5'Flank	p.I77M	NM_007153	NP_009084					4	380	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.231A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.889197	0.00527	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	1.41	-2.82	0.05787	.	.	.	.	.	T	0.04770	0.0129	.	.	.	0.09310	N	1	B;B	0.31790	0.03;0.34	B;B	0.33846	0.021;0.171	T	0.39143	-0.9628	8	0.30854	T	0.27	.	1.5734	0.02619	0.298:0.2269:0.0:0.475	.	77;77	O43345;F8WEA0	ZN208_HUMAN;.	M	77	ENSP00000380315:I77M	ENSP00000380315:I77M	I	-	3	3	ZNF208	21949445	0.000000	0.05858	0.001000	0.08648	0.619000	0.37552	-2.788000	0.00768	-0.884000	0.03976	0.246000	0.17985	ATA		0.294	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		30	13	0	0	0	0.007291	0	30	13				
KCTD15	79047	broad.mit.edu	37	19	34291390	34291390	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:34291390T>C	ENST00000430256.3	+	2	439	c.31T>C	c.(31-33)Tcc>Ccc	p.S11P	KCTD15_ENST00000589786.1_Missense_Mutation_p.S11P|KCTD15_ENST00000284006.6_Missense_Mutation_p.S11P|KCTD15_ENST00000588881.1_Missense_Mutation_p.S11P			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	11					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GCCGAGCGGGTCCTCGCTTCA	0.637																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)	uc002nuy.3		NA																	0				pancreas(1)	1						c.(31-33)TCC>CCC		potassium channel tetramerisation domain							23.0	24.0	24.0					19																	34291390		2203	4298	6501	SO:0001583	missense	79047					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:34291390T>C	AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.31T>C	19.37:g.34291390T>C	ENSP00000394390:p.Ser11Pro					KCTD15_uc002nuv.2_Missense_Mutation_p.S11P|KCTD15_uc002nuw.3_Missense_Mutation_p.S11P|KCTD15_uc010xrt.1_Missense_Mutation_p.S11P|KCTD15_uc002nux.3_Missense_Mutation_p.S11P	p.S11P	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN			3	299	+	Esophageal squamous(110;0.162)		11					A8K600|Q9BVI6	Missense_Mutation	SNP	ENST00000430256.3	37	c.31T>C	CCDS46039.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952359	0.53293	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.76839	0.82;-1.05	5.73	4.72	0.59763	.	0.000000	0.45606	D	0.000346	T	0.51753	0.1693	N	0.02539	-0.55	0.27424	N	0.954215	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47446	-0.9117	10	0.59425	D	0.04	.	7.6671	0.28437	0.0:0.0919:0.0:0.9081	.	11;11	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	P	11;11;14	ENSP00000394390:S11P;ENSP00000284006:S11P	ENSP00000284006:S11P	S	+	1	0	KCTD15	38983230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.018000	0.40991	2.198000	0.70561	0.533000	0.62120	TCC		0.637	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451462.2	NM_024076		9	52	0	0	0	0.008291	0	9	52				
IGFLR1	79713	broad.mit.edu	37	19	36230869	36230869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36230869G>A	ENST00000592537.1	-	4	563	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	IGFLR1_ENST00000246532.1_Nonsense_Mutation_p.Q155*|IGFLR1_ENST00000588992.1_Intron|KMT2B_ENST00000607650.1_RNA|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CAGGCCTGCTGAGGGACAGGC	0.622																																							uc002obc.2		NA																	0					0						c.(463-465)CAG>TAG		transmembrane protein 149 precursor							55.0	57.0	56.0					19																	36230869		2203	4300	6503	SO:0001587	stop_gained	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230869G>A	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.463C>T	19.37:g.36230869G>A	ENSP00000466181:p.Gln155*					TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Nonsense_Mutation_p.Q155*|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Nonsense_Mutation_p.Q235*	p.Q155*	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	564	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		155			Extracellular (Potential).		Q8N5X0	Nonsense_Mutation	SNP	ENST00000592537.1	37	c.463C>T	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.798426	0.31777	.	.	ENSG00000126246	ENST00000246532	.	.	.	4.07	-5.82	0.02333	.	3.204400	0.01074	N	0.004860	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	1.1166	0.01715	0.1909:0.1279:0.272:0.4092	.	.	.	.	X	155	.	ENSP00000246532:Q155X	Q	-	1	0	IGFLR1	40922709	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.043000	0.12043	-0.735000	0.04837	-0.482000	0.04802	CAG		0.622	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		25	163	0	0	0	0.004656	0	25	163				
APLP1	333	broad.mit.edu	37	19	36362795	36362795	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36362795G>T	ENST00000221891.4	+	6	899	c.707G>T	c.(706-708)aGa>aTa	p.R236I	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.R230I|APLP1_ENST00000537454.2_Missense_Mutation_p.R197I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	236					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGGAGCAGAGTAGAGGGG	0.632																																							uc002oce.2		NA																	0				ovary(2)	2						c.(706-708)AGA>ATA		amyloid precursor-like protein 1 isoform 2							50.0	54.0	53.0					19																	36362795		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362795G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.707G>T	19.37:g.36362795G>T	ENSP00000221891:p.Arg236Ile					APLP1_uc010xsz.1_Missense_Mutation_p.R197I|APLP1_uc002ocf.2_Missense_Mutation_p.R236I|APLP1_uc002ocg.2_Missense_Mutation_p.R139I|APLP1_uc010xta.1_Missense_Mutation_p.R230I	p.R236I	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	845	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		236			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.707G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349523	0.24426	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94138	-3.27;-3.36	3.91	1.75	0.24633	.	0.416908	0.20722	N	0.086887	D	0.84538	0.5494	N	0.19112	0.55	0.47621	D	0.999476	P;P;P;P	0.44195	0.652;0.706;0.764;0.828	B;B;B;B	0.39706	0.162;0.225;0.307;0.17	T	0.80585	-0.1317	10	0.46703	T	0.11	-6.3928	5.6101	0.17400	0.2534:0.0:0.7466:0.0	.	230;197;236;236	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	197;236	ENSP00000441501:R197I;ENSP00000221891:R236I	ENSP00000221891:R236I	R	+	2	0	APLP1	41054635	1.000000	0.71417	0.996000	0.52242	0.298000	0.27526	0.711000	0.25764	0.944000	0.37579	-0.448000	0.05591	AGA		0.632	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		35	245	1	0	9.17885e-22	0.003271	1.19777e-21	35	245				
APLP1	333	broad.mit.edu	37	19	36362806	36362806	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36362806G>T	ENST00000221891.4	+	6	910	c.718G>T	c.(718-720)Gct>Tct	p.A240S	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.A234S|APLP1_ENST00000537454.2_Missense_Mutation_p.A201S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTAGAGGGGGCTGAGGACGA	0.642																																							uc002oce.2		NA																	0				ovary(2)	2						c.(718-720)GCT>TCT		amyloid precursor-like protein 1 isoform 2							60.0	64.0	63.0					19																	36362806		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362806G>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.718G>T	19.37:g.36362806G>T	ENSP00000221891:p.Ala240Ser					APLP1_uc010xsz.1_Missense_Mutation_p.A201S|APLP1_uc002ocf.2_Missense_Mutation_p.A240S|APLP1_uc002ocg.2_Missense_Mutation_p.A143S|APLP1_uc010xta.1_Missense_Mutation_p.A234S	p.A240S	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	856	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		240			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.718G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089199	0.36855	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93906	-3.24;-3.31	4.33	4.33	0.51752	.	0.801320	0.10915	N	0.620119	D	0.85835	0.5789	N	0.14661	0.345	0.34269	D	0.680862	B;B;B;B	0.16396	0.017;0.007;0.006;0.002	B;B;B;B	0.13407	0.007;0.009;0.009;0.001	T	0.80211	-0.1476	10	0.10902	T	0.67	0.7272	12.6546	0.56780	0.0:0.0:1.0:0.0	.	234;201;240;240	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	201;240	ENSP00000441501:A201S;ENSP00000221891:A240S	ENSP00000221891:A240S	A	+	1	0	APLP1	41054646	0.950000	0.32346	0.995000	0.50966	0.464000	0.32679	1.440000	0.35024	2.126000	0.65437	0.462000	0.41574	GCT		0.642	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		36	278	1	0	6.05902e-23	0.003755	8.00248e-23	36	278				
ZNF585B	92285	broad.mit.edu	37	19	37676971	37676971	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:37676971C>G	ENST00000532828.2	-	5	1719	c.1468G>C	c.(1468-1470)Gga>Cga	p.G490R	ZNF585B_ENST00000312908.5_Missense_Mutation_p.G78R|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G435R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTTCTCTCCTGTATGAGTT	0.408																																					Melanoma(93;882 1454 18863 28917 48427)	Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	0				ovary(1)	1						c.(1468-1470)GGA>CGA		zinc finger protein 585B							72.0	75.0	74.0					19																	37676971		2203	4297	6500	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676971C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1468G>C	19.37:g.37676971C>G	ENSP00000433773:p.Gly490Arg					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.G304R	p.G490R	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1722	-			490					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1468G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164117	0.57476	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.26223	1.75;1.75;1.75	2.31	2.31	0.28768	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36972	N	0.002320	T	0.40886	0.1135	L	0.48218	1.51	0.45015	D	0.998033	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.34825	-0.9813	10	0.72032	D	0.01	.	11.7248	0.51704	0.0:1.0:0.0:0.0	.	435;490	E9PQH3;Q52M93	.;Z585B_HUMAN	R	435;490;78	ENSP00000436774:G435R;ENSP00000433773:G490R;ENSP00000442139:G78R	ENSP00000442139:G78R	G	-	1	0	ZNF585B	42368811	0.110000	0.22057	0.977000	0.42913	0.948000	0.59901	2.764000	0.47613	1.288000	0.44600	0.298000	0.19748	GGA		0.408	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		162	130	0	0	0	0.00361	0	162	130				
ZNF607	84775	broad.mit.edu	37	19	38190240	38190240	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38190240G>C	ENST00000355202.4	-	5	1387	c.792C>G	c.(790-792)ctC>ctG	p.L264L	ZNF607_ENST00000395835.3_Silent_p.L263L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	264					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGCCTGCTTTGAGCCTAAAGG	0.448																																							uc002ohc.1		NA																	0					0						c.(790-792)CTC>CTG		zinc finger protein 607							45.0	45.0	45.0					19																	38190240		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190240G>C	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.792C>G	19.37:g.38190240G>C						ZNF607_uc002ohb.1_Silent_p.L263L	p.L264L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1388	-			264			C2H2-type 6.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.792C>G	CCDS33006.1																																																																																				0.448	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		14	104	0	0	0	0.001855	0	14	104				
CATSPERG	57828	broad.mit.edu	37	19	38852329	38852329	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38852329C>G	ENST00000409235.3	+	17	2037	c.1922C>G	c.(1921-1923)tCg>tGg	p.S641W	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S601W	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	641					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCCCCTTCTCGGTGATGCGC	0.682																																							uc002oih.3		NA																	0				ovary(1)|skin(1)	2						c.(1921-1923)TCG>TGG		cation channel, sperm-associated, gamma							39.0	41.0	40.0					19																	38852329		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852329C>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1922C>G	19.37:g.38852329C>G	ENSP00000386962:p.Ser641Trp					CATSPERG_uc002oig.3_Missense_Mutation_p.S601W|CATSPERG_uc002oif.3_Missense_Mutation_p.S281W|CATSPERG_uc010efw.2_RNA	p.S641W	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			17	2009	+			641			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1922C>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079002	0.55753	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.36878	1.23;1.23;1.23	4.67	-8.99	0.00751	.	1.667320	0.03166	N	0.170021	T	0.22820	0.0551	N	0.08118	0	0.09310	N	0.999998	D;D	0.69078	0.985;0.997	P;P	0.54889	0.569;0.763	T	0.46665	-0.9175	10	0.66056	D	0.02	-1.1489	1.5973	0.02666	0.4865:0.139:0.107:0.2674	.	641;601	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	W	601;641;641	ENSP00000387057:S601W;ENSP00000386962:S641W;ENSP00000386950:S641W	ENSP00000386962:S641W	S	+	2	0	CATSPERG	43544169	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.348000	0.07740	-1.005000	0.03417	-0.723000	0.03601	TCG		0.682	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		3	146	0	0	0	0.004672	0	3	146				
RYR1	6261	broad.mit.edu	37	19	38946102	38946102	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38946102C>A	ENST00000359596.3	+	15	1588	c.1588C>A	c.(1588-1590)Cgt>Agt	p.R530S	RYR1_ENST00000355481.4_Missense_Mutation_p.R530S|RYR1_ENST00000360985.3_Missense_Mutation_p.R530S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	530			R -> H (in MHS1). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R530C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCTCTAATCCGTGGCAATCG	0.582																																							uc002oit.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(1588-1590)CGT>AGT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						103.0	96.0	98.0					19																	38946102		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38946102C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1588C>A	19.37:g.38946102C>A	ENSP00000352608:p.Arg530Ser					RYR1_uc002oiu.2_Missense_Mutation_p.R530S	p.R530S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1718	+	all_cancers(60;7.91e-06)		530		R -> H (in MHS1).	Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1588C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962623	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96073	-3.9;-3.9;-3.9	4.01	4.01	0.46588	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000002	D	0.97430	0.9159	M	0.84683	2.71	0.40337	D	0.978992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97873	1.0287	10	0.66056	D	0.02	.	11.2129	0.48808	0.1835:0.8165:0.0:0.0	.	530;530	P21817-2;P21817	.;RYR1_HUMAN	S	530	ENSP00000352608:R530S;ENSP00000347667:R530S;ENSP00000354254:R530S	ENSP00000347667:R530S	R	+	1	0	RYR1	43637942	0.999000	0.42202	1.000000	0.80357	0.869000	0.49853	1.403000	0.34612	2.054000	0.61138	0.407000	0.27541	CGT		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			65	163	1	0	1.33661e-31	0.00361	1.87931e-31	65	163				
RYR1	6261	broad.mit.edu	37	19	38987127	38987127	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38987127C>T	ENST00000359596.3	+	41	6742	c.6742C>T	c.(6742-6744)Cgc>Tgc	p.R2248C	RYR1_ENST00000355481.4_Missense_Mutation_p.R2248C|RYR1_ENST00000360985.3_Missense_Mutation_p.R2248C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2248	6 X approximate repeats.		R -> C. {ECO:0000269|PubMed:20681998}.|R -> H (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGAACCAGCGCTCCATGTT	0.622																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6742-6744)CGC>TGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						51.0	54.0	53.0					19																	38987127		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38987127C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6742C>T	19.37:g.38987127C>T	ENSP00000352608:p.Arg2248Cys					RYR1_uc002oiu.2_Missense_Mutation_p.R2248C|RYR1_uc002oiv.1_5'UTR	p.R2248C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		41	6872	+	all_cancers(60;7.91e-06)		2248			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6742C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975515	0.53720	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95554	-3.74;-3.74;-3.74	4.91	3.83	0.44106	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000004	D	0.94817	0.8326	N	0.24115	0.695	0.46609	D	0.999128	D;D	0.89917	1.0;1.0	D;D	0.69307	0.938;0.963	D	0.94779	0.7952	10	0.87932	D	0	.	12.5763	0.56365	0.2555:0.7445:0.0:0.0	.	2248;2248	P21817-2;P21817	.;RYR1_HUMAN	C	2248	ENSP00000352608:R2248C;ENSP00000347667:R2248C;ENSP00000354254:R2248C	ENSP00000347667:R2248C	R	+	1	0	RYR1	43678967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	2.549000	0.85964	0.555000	0.69702	CGC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			63	191	0	0	0	0.00361	0	63	191				
RYR1	6261	broad.mit.edu	37	19	39052027	39052027	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39052027C>G	ENST00000359596.3	+	90	12557	c.12557C>G	c.(12556-12558)tCa>tGa	p.S4186*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.S4181*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.S4181*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4186					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGGGCGCGTCACGCCGCATC	0.652																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(12556-12558)TCA>TGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						85.0	64.0	71.0					19																	39052027		2203	4300	6503	SO:0001587	stop_gained	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39052027C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12557C>G	19.37:g.39052027C>G	ENSP00000352608:p.Ser4186*					RYR1_uc002oiu.2_Nonsense_Mutation_p.S4181*|RYR1_uc002oiv.1_Nonsense_Mutation_p.S1095*	p.S4186*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12687	+	all_cancers(60;7.91e-06)		4186					Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	37	c.12557C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	53	21.333520	0.99939	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	3.67	3.67	0.42095	.	0.249276	0.31989	U	0.006752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.2466	0.26125	0.1696:0.5173:0.3131:0.0	.	.	.	.	X	4186;4181;4181	.	ENSP00000347667:S4181X	S	+	2	0	RYR1	43743867	0.976000	0.34144	0.995000	0.50966	0.749000	0.42624	3.590000	0.53979	2.082000	0.62665	0.298000	0.19748	TCA		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			18	198	0	0	0	0.006122	0	18	198				
FBXO17	115290	broad.mit.edu	37	19	39433327	39433327	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39433327C>G	ENST00000292852.4	-	6	1099	c.758G>C	c.(757-759)aGa>aCa	p.R253T	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.E157D|FBXO17_ENST00000595329.1_Missense_Mutation_p.R253T|SARS2_ENST00000448145.2_Missense_Mutation_p.R88T	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	253	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACTCACGTCTCTCCCGTACTG	0.602																																							uc010xuq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(262-264)AGA>ACA		seryl-tRNA synthetase 2 isoform b precursor							116.0	102.0	107.0					19																	39433327		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39433327C>G	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.758G>C	19.37:g.39433327C>G	ENSP00000292852:p.Arg253Thr					FBXO17_uc002okg.1_Missense_Mutation_p.R253T|FBXO17_uc002okf.1_Missense_Mutation_p.R262T	p.R88T	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	471	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Error:Variant_position_missing_in_Q9NP81_after_alignment					Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.263G>C	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589348	0.46214	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32753	1.44;1.44	4.73	3.7	0.42460	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.092361	0.45867	D	0.000339	T	0.31040	0.0784	N	0.20685	0.6	.	.	.	P;D	0.56287	0.611;0.975	B;P	0.59761	0.419;0.863	T	0.30268	-0.9984	9	0.48119	T	0.1	.	8.1382	0.31067	0.0:0.8938:0.0:0.1062	.	88;253	E7EX87;Q96EF6	.;FBX17_HUMAN	T	88;262;253	ENSP00000399330:R88T;ENSP00000292852:R253T	ENSP00000292852:R253T	R	-	2	0	FBXO17	44125167	0.002000	0.14202	0.998000	0.56505	0.905000	0.53344	0.577000	0.23758	2.615000	0.88500	0.555000	0.69702	AGA		0.602	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		26	214	0	0	0	0.005443	0	26	214				
SUPT5H	6829	broad.mit.edu	37	19	39948326	39948326	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39948326G>C	ENST00000599117.1	+	5	620	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E85Q|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E85Q|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E85Q|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E85Q			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	85	Glu-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTTGACGATGAGTATGAGGA	0.532																																							uc002olo.3		NA																	0				ovary(3)|pancreas(1)	4						c.(253-255)GAG>CAG		suppressor of Ty 5 homolog isoform a							243.0	201.0	215.0					19																	39948326		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39948326G>C	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.253G>C	19.37:g.39948326G>C	ENSP00000470252:p.Glu85Gln					SUPT5H_uc010xvb.1_Missense_Mutation_p.E85Q|SUPT5H_uc002olp.3_Missense_Mutation_p.E85Q|SUPT5H_uc002olq.3_Missense_Mutation_p.E85Q|SUPT5H_uc002oln.3_Missense_Mutation_p.E85Q|SUPT5H_uc002olr.3_Missense_Mutation_p.E85Q	p.E85Q	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		4	432	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		85			Glu-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.253G>C	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954322	0.73902	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	3.94	3.94	0.45596	Spt5 transcription elongation factor, N-terminal (1);	0.251491	0.33496	N	0.004844	T	0.73125	0.3547	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.963;0.971	D;P;P	0.69824	0.966;0.776;0.857	T	0.73623	-0.3924	8	.	.	.	-17.7624	15.1214	0.72447	0.0:0.0:1.0:0.0	.	85;85;85	B4DHJ8;O00267-2;O00267	.;.;SPT5H_HUMAN	Q	85;85;63;85	.	.	E	+	1	0	SUPT5H	44640166	1.000000	0.71417	0.969000	0.41365	0.567000	0.35839	9.330000	0.96422	1.935000	0.56089	0.313000	0.20887	GAG		0.532	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		28	136	0	0	0	0.010818	0	28	136				
ZNF780A	284323	broad.mit.edu	37	19	40587775	40587775	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:40587775C>T	ENST00000595687.2	-	5	392	c.183G>A	c.(181-183)gaG>gaA	p.E61E	ZNF780A_ENST00000594395.1_Silent_p.E62E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.E61E|ZNF780A_ENST00000455521.1_Silent_p.E62E|ZNF780A_ENST00000414720.2_Silent_p.E77E|ZNF780A_ENST00000450241.2_Silent_p.E27E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	61	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGGCTCTTTCTCTTGCTCTA	0.398																																							uc002omy.2		NA																	0					0						c.(181-183)GAG>GAA		zinc finger protein 780A isoform b							181.0	163.0	169.0					19																	40587775		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40587775C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.183G>A	19.37:g.40587775C>T						ZNF780A_uc002omw.3_Silent_p.E77E|ZNF780A_uc002omz.2_Silent_p.E61E|ZNF780A_uc010xvh.1_Silent_p.E62E	p.E61E	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			5	408	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		61			KRAB.		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.183G>A	CCDS33026.2																																																																																				0.398	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		23	96	0	0	0	0.00333	0	23	96				
CIC	23152	broad.mit.edu	37	19	42798342	42798342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:42798342G>T	ENST00000575354.2	+	18	4253	c.4213G>T	c.(4213-4215)Gag>Tag	p.E1405*	CIC_ENST00000572681.2_Nonsense_Mutation_p.E2311*|CIC_ENST00000160740.3_Nonsense_Mutation_p.E1403*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGCACCCGAGGACCCCAC	0.627			"""Mis, F, S"""		oligodendroglioma																																		uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(4213-4215)GAG>TAG		capicua homolog							78.0	80.0	79.0					19																	42798342		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798342G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4213G>T	19.37:g.42798342G>T	ENSP00000458663:p.Glu1405*						p.E1405*	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			18	4253	+		Prostate(69;0.00682)	1405					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.4213G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253561	0.59212	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.72	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4589	12.1721	0.54165	0.0:0.0:0.8288:0.1712	.	.	.	.	X	1405	.	ENSP00000160740:E1405X	E	+	1	0	CIC	47490182	1.000000	0.71417	0.973000	0.42090	0.588000	0.36517	8.233000	0.89799	2.639000	0.89480	0.591000	0.81541	GAG		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			71	43	1	0	1.02016e-41	0.00361	1.51478e-41	71	43				
ZNF233	353355	broad.mit.edu	37	19	44778564	44778564	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:44778564G>A	ENST00000391958.2	+	5	1878	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.R566K	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGTCCACACA	0.458																																							uc002oyz.1		NA																	0				skin(2)	2						c.(1750-1752)AGA>AAA		zinc finger protein 233							94.0	92.0	93.0					19																	44778564		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778564G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1751G>A	19.37:g.44778564G>A	ENSP00000375820:p.Arg584Lys					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.R399K	p.R584K	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1878	+		Prostate(69;0.0435)|all_neural(266;0.226)	584			C2H2-type 10.		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1751G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688843	0.68271	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.18338	2.22;2.22	4.08	0.221	0.15283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11110	0.0271	L	0.27944	0.81	0.26290	N	0.978139	B	0.12630	0.006	B	0.15484	0.013	T	0.28870	-1.0030	9	0.41790	T	0.15	-20.895	7.4407	0.27181	0.173:0.1362:0.6909:0.0	.	584	A6NK53	ZN233_HUMAN	K	566;584;479	ENSP00000334957:R566K;ENSP00000375820:R584K	ENSP00000280305:R479K	R	+	2	0	ZNF233	49470404	0.000000	0.05858	0.019000	0.16419	0.976000	0.68499	-0.157000	0.10085	0.295000	0.22570	-0.177000	0.13119	AGA		0.458	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		20	79	0	0	0	0.007413	0	20	79				
CEACAM20	125931	broad.mit.edu	37	19	45028255	45028255	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:45028255G>T	ENST00000454753.1	-	0	514							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCTCTATGGCAGTGCCTGG	0.517																																							uc010ejn.1		NA																	0				large_intestine(2)	2						c.(235-237)GCC>GAC		carcinoembryonic antigen-related cell adhesion							103.0	99.0	100.0					19																	45028255		2075	4222	6297			125931					integral to membrane		g.chr19:45028255G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028255G>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.A79D|CEACAM20_uc010ejp.1_Missense_Mutation_p.A79D|CEACAM20_uc010ejq.1_Missense_Mutation_p.A79D	p.A79D	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			3	252	-		Prostate(69;0.0352)	79			Ig-like C2-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.236C>A																																																																																					0.517	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		44	37	1	0	1.8453e-21	0.010771	2.39522e-21	44	37				
GRIN2D	2906	broad.mit.edu	37	19	48925050	48925050	+	Missense_Mutation	SNP	G	G	T	rs150071822		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:48925050G>T	ENST00000263269.3	+	10	2188	c.2100G>T	c.(2098-2100)agG>agT	p.R700S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	700					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)	AGTTCCAGAGGCCCCAGGAGC	0.582																																							uc002pjc.3		NA																	0				ovary(3)|breast(3)	6						c.(2098-2100)AGG>AGT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	G	SER/ARG	0,4406		0,0,2203	63.0	58.0	60.0		2100	3.4	1.0	19	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRIN2D	NM_000836.2	110	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging	700/1337	48925050	2,13004	2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48925050G>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.2100G>T	19.37:g.48925050G>T	ENSP00000263269:p.Arg700Ser					GRIN2D_uc010elx.2_5'UTR	p.R700S	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)	10	2188	+		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)	700			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.2100G>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238241	0.39598	0.0	2.33E-4	ENSG00000105464	ENST00000263269	T	0.26957	1.7	4.43	3.36	0.38483	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.145914	0.43579	D	0.000550	T	0.14830	0.0358	N	0.12887	0.27	0.37534	D	0.918053	P	0.46859	0.885	P	0.44860	0.462	T	0.08269	-1.0730	10	0.40728	T	0.16	.	6.5543	0.22452	0.2837:0.0:0.7163:0.0	.	700	O15399	NMDE4_HUMAN	S	700	ENSP00000263269:R700S	ENSP00000263269:R700S	R	+	3	2	GRIN2D	53616862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.436000	0.34980	1.181000	0.42912	0.655000	0.94253	AGG		0.582	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			48	31	1	0	6.4308e-24	0.00361	8.5744e-24	48	31				
NR1H2	7376	broad.mit.edu	37	19	50881788	50881788	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:50881788C>G	ENST00000253727.5	+	6	717	c.482C>G	c.(481-483)tCt>tGt	p.S161C	NR1H2_ENST00000599105.1_Missense_Mutation_p.S161C|NR1H2_ENST00000411902.2_Missense_Mutation_p.S64C|NR1H2_ENST00000598168.1_Missense_Mutation_p.S161C|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.S161C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	161					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCGTCCTTTCTGAAGAACAG	0.652																																							uc010enw.2		NA																	0					0						c.(481-483)TCT>TGT		nuclear receptor subfamily 1, group H, member 2							34.0	41.0	39.0					19																	50881788		2062	4201	6263	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881788C>G	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.482C>G	19.37:g.50881788C>G	ENSP00000253727:p.Ser161Cys					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S161C|NR1H2_uc002psa.3_Missense_Mutation_p.S64C	p.S161C	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	758	+		all_neural(266;0.057)	161			Nuclear receptor.		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.482C>G	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390399	0.62066	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.92495	-3.03;-3.05	4.44	3.4	0.38934	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (1);	0.220664	0.30510	N	0.009461	D	0.93697	0.7986	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;P;D	0.70935	0.912;0.888;0.971	D	0.93741	0.7050	10	0.87932	D	0	.	11.8139	0.52197	0.0:0.9115:0.0:0.0885	.	161;64;161	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	C	161;64;161	ENSP00000253727:S161C;ENSP00000396151:S64C	ENSP00000253727:S161C	S	+	2	0	NR1H2	55573600	1.000000	0.71417	0.713000	0.30519	0.729000	0.41735	5.477000	0.66799	1.233000	0.43693	0.561000	0.74099	TCT		0.652	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			28	82	0	0	0	0.009535	0	28	82				
SHANK1	50944	broad.mit.edu	37	19	51219610	51219610	+	Silent	SNP	G	G	A	rs377430056		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:51219610G>A	ENST00000293441.1	-	2	399	c.381C>T	c.(379-381)cgC>cgT	p.R127R	SHANK1_ENST00000391814.1_Silent_p.R127R|SHANK1_ENST00000359082.3_Silent_p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	127					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTTGGCATCGCGGCCGGAGG	0.632																																							uc002psx.1		NA																	0				large_intestine(2)	2						c.(379-381)CGC>CGT		SH3 and multiple ankyrin repeat domains 1				0,4406		0,0,2203	48.0	52.0	51.0		381	-5.6	0.0	19		51	2,8598		0,2,4298	no	coding-synonymous	SHANK1	NM_016148.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		127/2162	51219610	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219610G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.381C>T	19.37:g.51219610G>A							p.R127R	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	400	-		all_neural(266;0.057)	127					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.381C>T	CCDS12799.1																																																																																				0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		24	80	0	0	0	0.00333	0	24	80				
LILRA6	79168	broad.mit.edu	37	19	54744744	54744744	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:54744744C>A	ENST00000396365.2	-	5	957	c.918G>T	c.(916-918)tgG>tgT	p.W306C	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.W306C|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.W306C|LILRA6_ENST00000245621.5_Missense_Mutation_p.W306C|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	306	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGCCGACCACTCGGAGG	0.687																																							uc002qeu.1		NA																	0				skin(2)	2						c.(916-918)TGG>TGT		leukocyte immunoglobulin-like receptor,							38.0	49.0	46.0					19																	54744744		2202	4299	6501	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744744C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.918G>T	19.37:g.54744744C>A	ENSP00000379651:p.Trp306Cys					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.W306C|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.W306C|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.W306C|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.W306C|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.W306C|LILRA6_uc010yeq.1_Missense_Mutation_p.W306C|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.W167C	p.W306C	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1042	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		306			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.918G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	5.230	0.227974	0.09916	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00902	5.56;5.56;5.56;5.56	2.1	2.1	0.27182	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.482934	0.15698	N	0.249084	T	0.05090	0.0136	M	0.87758	2.905	0.80722	D	1	D;D;P;D	0.89917	0.987;1.0;0.688;0.987	D;D;B;D	0.74674	0.963;0.984;0.432;0.963	T	0.12426	-1.0548	10	0.72032	D	0.01	.	7.7785	0.29051	0.0:1.0:0.0:0.0	.	306;306;306;306	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	C	306	ENSP00000390120:W306C;ENSP00000411227:W306C;ENSP00000379651:W306C;ENSP00000245621:W306C	ENSP00000245621:W306C	W	-	3	0	LILRA6	59436556	0.750000	0.28316	0.900000	0.35374	0.122000	0.20287	1.240000	0.32731	1.507000	0.48752	0.162000	0.16502	TGG		0.687	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		37	29	1	0	9.84934e-19	0.010771	1.23748e-18	37	29				
LILRA3	11026	broad.mit.edu	37	19	54803705	54803705	+	Missense_Mutation	SNP	G	G	A	rs200231359	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:54803705G>A	ENST00000251390.3	-	3	210	c.119C>T	c.(118-120)aCc>aTc	p.T40I	LILRA3_ENST00000391745.1_Missense_Mutation_p.T57I|LILRA3_ENST00000391744.3_Missense_Mutation_p.T40I	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	40	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTCCCTTGGGTGATCACAGA	0.537																																							uc002qfd.2		NA																	0				ovary(1)	1						c.(118-120)ACC>ATC		leukocyte immunoglobulin-like receptor,																																				SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803705G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.119C>T	19.37:g.54803705G>A	ENSP00000251390:p.Thr40Ile					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.T40I	p.T40I	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	184	-	Ovarian(34;0.19)		40			Ig-like C2-type 1.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.119C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	6.219	0.408573	0.11812	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.14391	2.51;2.51;2.51	2.5	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.351730	0.01688	N	0.026516	T	0.17577	0.0422	L	0.61387	1.9	0.09310	N	1	B;B	0.19935	0.04;0.003	B;B	0.21708	0.036;0.007	T	0.25328	-1.0135	10	0.36615	T	0.2	.	5.405	0.16316	0.1713:0.0:0.8287:0.0	.	40;40	E7EU74;Q8N6C8	.;LIRA3_HUMAN	I	40;40;57	ENSP00000251390:T40I;ENSP00000375624:T40I;ENSP00000375625:T57I	ENSP00000251390:T40I	T	-	2	0	LILRA3	59495517	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.036000	0.13819	0.412000	0.25729	0.485000	0.47835	ACC		0.537	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			93	43	0	0	0	0.00361	0	93	43				
LILRA2	11027	broad.mit.edu	37	19	55086396	55086396	+	Missense_Mutation	SNP	C	C	A	rs368668010		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55086396C>A	ENST00000251377.3	+	5	684	c.551C>A	c.(550-552)cCc>cAc	p.P184H	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P184H|LILRA2_ENST00000251376.3_Missense_Mutation_p.P184H|LILRA2_ENST00000391737.1_Missense_Mutation_p.P172H|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCGTGGGCCCCGTGAGCCCG	0.577																																							uc002qgg.3		NA																	0				ovary(1)	1						c.(550-552)CCC>CAC		leukocyte immunoglobulin-like receptor,		C	HIS/PRO,HIS/PRO	0,4406		0,0,2203	153.0	146.0	148.0		551,551	-0.6	0.0	19		148	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	77,77	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	,	184/484,184/467	55086396	2,13004	2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086396C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.551C>A	19.37:g.55086396C>A	ENSP00000251377:p.Pro184His					LILRA2_uc010ern.2_Missense_Mutation_p.P184H|LILRA2_uc002qgf.2_Missense_Mutation_p.P184H|LILRA2_uc010yfe.1_Missense_Mutation_p.P184H|LILRA2_uc010yff.1_Missense_Mutation_p.P172H|LILRA2_uc010ero.2_Missense_Mutation_p.P172H|LILRA2_uc010yfg.1_Missense_Mutation_p.P184H	p.P184H	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	640	+			184			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.551C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120773	0.37436	0.0	2.33E-4	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04	2.93	-0.622	0.11560	Immunoglobulin-like fold (1);	0.593476	0.14797	N	0.297850	T	0.16938	0.0407	M	0.90814	3.15	0.09310	N	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.97110	0.854;1.0;1.0;0.989	T	0.02975	-1.1087	9	.	.	.	.	5.4886	0.16763	0.0:0.5875:0.0:0.4125	.	184;172;184;184	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	H	184;184;184;184;172	ENSP00000388131:P184H;ENSP00000251377:P184H;ENSP00000375618:P184H;ENSP00000251376:P184H;ENSP00000375617:P172H	.	P	+	2	0	LILRA2	59778208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-0.148000	0.11234	-0.358000	0.07595	CCC		0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			122	241	1	0	1.30845e-55	0.00361	2.00044e-55	122	241				
KIR2DL3	3804	broad.mit.edu	37	19	55258819	55258819	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55258819G>A	ENST00000342376.3	+	5	728	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	233					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TTCACCCACTGAACCAAGCTC	0.488																																							uc002qgv.2		NA																	0				ovary(2)	2						c.(697-699)GAA>AAA		killer cell immunoglobulin-like receptor, two							108.0	98.0	102.0					19																	55258819		1472	2611	4083	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55258819G>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.697G>A	19.37:g.55258819G>A	ENSP00000342215:p.Glu233Lys					KIR2DL3_uc002qgx.2_Missense_Mutation_p.E233K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E135K|KIR2DL3_uc010erw.1_Missense_Mutation_p.E233K|KIR2DL1_uc002qgz.1_Missense_Mutation_p.E143K|KIR2DL3_uc002qha.1_Intron	p.E233K	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	5	715	+			233			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.697G>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	7.006	0.555884	0.13436	.	.	ENSG00000243772	ENST00000342376	T	0.00475	7.16	0.736	-0.464	0.12160	.	.	.	.	.	T	0.00524	0.0017	M	0.83692	2.655	0.09310	N	1	B;B;B;B;B	0.26445	0.006;0.006;0.149;0.006;0.006	B;B;B;B;B	0.27500	0.021;0.012;0.08;0.008;0.008	T	0.40553	-0.9557	9	0.72032	D	0.01	.	3.135	0.06436	0.3477:0.0:0.6523:0.0	.	233;233;135;233;233	E3NZD7;P43627;P43628-2;P43628;E3NZD8	.;KI2L2_HUMAN;.;KI2L3_HUMAN;.	K	233	ENSP00000342215:E233K	ENSP00000342215:E233K	E	+	1	0	KIR2DL3	59950631	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-1.132000	0.03235	-0.132000	0.11557	0.184000	0.17185	GAA		0.488	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			82	461	0	0	0	0.00361	0	82	461				
NLRP7	199713	broad.mit.edu	37	19	55451427	55451427	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55451427C>A	ENST00000590030.1	-	3	800	c.760G>T	c.(760-762)Ggc>Tgc	p.G254C	NLRP7_ENST00000340844.2_Missense_Mutation_p.G254C|NLRP7_ENST00000592784.1_Missense_Mutation_p.G254C|NLRP7_ENST00000446217.1_Missense_Mutation_p.G282C|NLRP7_ENST00000448121.2_Missense_Mutation_p.G254C|NLRP7_ENST00000588756.1_Missense_Mutation_p.G254C|NLRP7_ENST00000328092.5_Missense_Mutation_p.G254C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	254	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATCAAGGCCATCGACCACG	0.562																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(760-762)GGC>TGC		NACHT, leucine rich repeat and PYD containing 7							102.0	103.0	103.0					19																	55451427		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451427C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.760G>T	19.37:g.55451427C>A	ENSP00000465520:p.Gly254Cys					NLRP7_uc002qig.3_Missense_Mutation_p.G254C|NLRP7_uc002qii.3_Missense_Mutation_p.G254C|NLRP7_uc010esk.2_Missense_Mutation_p.G254C|NLRP7_uc010esl.2_Missense_Mutation_p.G282C	p.G254C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	836	-			254			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.760G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919605	0.52653	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	1.76	1.76	0.24704	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.89914	0.6853	M	0.91818	3.245	0.46260	D	0.998955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.90191	0.4250	9	0.87932	D	0	.	9.5256	0.39162	0.0:1.0:0.0:0.0	.	282;254;254;254	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	C	254;254;254;282	ENSP00000329568:G254C;ENSP00000409137:G254C;ENSP00000339491:G254C;ENSP00000414273:G282C	ENSP00000329568:G254C	G	-	1	0	NLRP7	60143239	0.961000	0.32948	0.004000	0.12327	0.004000	0.04260	3.884000	0.56175	1.300000	0.44818	0.462000	0.41574	GGC		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		106	162	1	0	2.14364e-31	0.00361	3.00969e-31	106	162				
ZNF524	147807	broad.mit.edu	37	19	56114130	56114130	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56114130A>G	ENST00000591046.1	+	1	886	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ZNF524_ENST00000301073.3_Missense_Mutation_p.K218E|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCGCCATGCGAAGCGCAAGCA	0.706																																							uc002qlk.1		NA																	0					0						c.(652-654)AAG>GAG		zinc finger protein 524							17.0	16.0	17.0					19																	56114130		2153	4200	6353	SO:0001583	missense	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56114130A>G	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.652A>G	19.37:g.56114130A>G	ENSP00000466907:p.Lys218Glu					FIZ1_uc002qlj.3_5'Flank	p.K218E	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	735	+			218			C2H2-type 4.		Q6NW31|Q96IL7	Missense_Mutation	SNP	ENST00000591046.1	37	c.652A>G	CCDS12929.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237370	0.58886	.	.	ENSG00000171443	ENST00000301073	T	0.11821	2.74	3.23	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	N	0.19112	0.55	0.33288	D	0.563186	D	0.57257	0.979	B	0.44224	0.444	T	0.24333	-1.0163	9	0.66056	D	0.02	.	7.7794	0.29056	0.787:0.213:0.0:0.0	.	218	Q96C55	ZN524_HUMAN	E	218	ENSP00000301073:K218E	ENSP00000301073:K218E	K	+	1	0	ZNF524	60805942	0.034000	0.19679	0.996000	0.52242	0.985000	0.73830	1.430000	0.34914	0.601000	0.29879	0.459000	0.35465	AAG		0.706	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		35	49	0	0	0	0.004289	0	35	49				
NLRP8	126205	broad.mit.edu	37	19	56482046	56482046	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56482046C>A	ENST00000291971.3	+	6	2589	c.2518C>A	c.(2518-2520)Cag>Aag	p.Q840K	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q840K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	840					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCTGTGGCCCAGCTGGAGAG	0.463																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2518-2520)CAG>AAG		NLR family, pyrin domain containing 8							121.0	129.0	126.0					19																	56482046		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56482046C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2518C>A	19.37:g.56482046C>A	ENSP00000291971:p.Gln840Lys					NLRP8_uc010etg.2_Missense_Mutation_p.Q840K	p.Q840K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2589	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	840			LRR 3.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2518C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.180074	0.00308	.	.	ENSG00000179709	ENST00000291971	T	0.51325	0.71	1.93	-0.485	0.12067	.	.	.	.	.	T	0.18841	0.0452	N	0.04335	-0.225	0.09310	N	1	B;B	0.30482	0.281;0.033	B;B	0.27076	0.076;0.009	T	0.14671	-1.0464	9	0.28530	T	0.3	.	2.318	0.04203	0.2975:0.5135:0.0:0.189	.	840;840	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	840	ENSP00000291971:Q840K	ENSP00000291971:Q840K	Q	+	1	0	NLRP8	61173858	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.070000	0.14573	-0.044000	0.13491	-0.351000	0.07748	CAG		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		140	244	1	0	4.34486e-62	0.00361	6.72664e-62	140	244				
NLRP5	126206	broad.mit.edu	37	19	56539809	56539809	+	Missense_Mutation	SNP	G	G	T	rs375006739		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56539809G>T	ENST00000390649.3	+	7	2210	c.2210G>T	c.(2209-2211)cGg>cTg	p.R737L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R737L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGAAAATTCGGGTGGATGTC	0.502																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2209-2211)CGG>CTG		NACHT, LRR and PYD containing protein 5		G	LEU/ARG	0,4024		0,0,2012	150.0	150.0	150.0		2210	2.2	0.0	19		150	2,8366		0,2,4182	no	missense	NLRP5	NM_153447.4	102	0,2,6194	TT,TG,GG		0.0239,0.0,0.0161	probably-damaging	737/1201	56539809	2,12390	2012	4184	6196	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539809G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2210G>T	19.37:g.56539809G>T	ENSP00000375063:p.Arg737Leu					NLRP5_uc002qmi.2_Missense_Mutation_p.R718L	p.R737L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2210	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	737			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2210G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732254	0.48939	0.0	2.39E-4	ENSG00000171487	ENST00000390649	D	0.87650	-2.28	3.26	2.21	0.28008	.	0.000000	0.33438	N	0.004906	D	0.91341	0.7269	M	0.81802	2.56	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.81915	-0.0714	10	0.54805	T	0.06	.	6.3487	0.21363	0.137:0.0:0.863:0.0	.	737	P59047	NALP5_HUMAN	L	737	ENSP00000375063:R737L	ENSP00000375063:R737L	R	+	2	0	NLRP5	61231621	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	-0.230000	0.09083	0.928000	0.37168	0.561000	0.74099	CGG		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		71	373	1	0	2.40655e-23	0.00361	3.19137e-23	71	373				
NLRP5	126206	broad.mit.edu	37	19	56572830	56572830	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56572830G>A	ENST00000390649.3	+	15	3539	c.3539G>A	c.(3538-3540)cGa>cAa	p.R1180Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1180					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCAAGCCCCGAGTCGTAATT	0.512																																							uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(3538-3540)CGA>CAA		NACHT, LRR and PYD containing protein 5							130.0	127.0	128.0					19																	56572830		1971	4146	6117	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56572830G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3539G>A	19.37:g.56572830G>A	ENSP00000375063:p.Arg1180Gln					NLRP5_uc002qmi.2_Missense_Mutation_p.R1161Q	p.R1180Q	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	15	3539	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1180					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3539G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	g	2.780	-0.253683	0.05829	.	.	ENSG00000171487	ENST00000390649	T	0.52983	0.64	3.33	-2.83	0.05769	.	.	.	.	.	T	0.19366	0.0465	N	0.02192	-0.645	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19516	-1.0303	9	0.29301	T	0.29	.	8.826	0.35054	0.6002:0.0:0.3998:0.0	.	1180	P59047	NALP5_HUMAN	Q	1180	ENSP00000375063:R1180Q	ENSP00000375063:R1180Q	R	+	2	0	NLRP5	61264642	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.080000	0.11339	-0.814000	0.04352	-3.167000	0.00057	CGA		0.512	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		44	102	0	0	0	0.013114	0	44	102				
ZIM2	23619	broad.mit.edu	37	19	57286456	57286456	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57286456T>A	ENST00000391708.3	-	12	1726	c.1184A>T	c.(1183-1185)cAg>cTg	p.Q395L	ZIM2_ENST00000599935.1_Missense_Mutation_p.Q395L|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q395L|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q395L|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q395L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ATTCGCACACTGGACGGAAGG	0.463																																							uc002qnr.2		NA																	0				ovary(3)	3						c.(1183-1185)CAG>CTG		zinc finger, imprinted 2							84.0	69.0	74.0					19																	57286456		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286456T>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1184A>T	19.37:g.57286456T>A	ENSP00000375589:p.Gln395Leu					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.Q191L|ZIM2_uc010ygr.1_Missense_Mutation_p.Q191L|ZIM2_uc002qnq.2_Missense_Mutation_p.Q395L|ZIM2_uc010etp.2_Missense_Mutation_p.Q395L|ZIM2_uc010ygs.1_Missense_Mutation_p.Q395L	p.Q395L	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1566	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	395					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1184A>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262891	0.23051	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05081	3.5;3.5	4.26	-7.58	0.01313	.	.	.	.	.	T	0.04407	0.0121	L	0.43152	1.355	.	.	.	P	0.34462	0.454	B	0.24394	0.053	T	0.06023	-1.0850	8	0.42905	T	0.14	.	8.9821	0.35972	0.0:0.3768:0.439:0.1841	.	395	Q9NZV7	ZIM2_HUMAN	L	395	ENSP00000375589:Q395L;ENSP00000221722:Q395L	ENSP00000221722:Q395L	Q	-	2	0	ZIM2	61978268	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.265000	0.01172	-2.159000	0.00787	-0.316000	0.08728	CAG		0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			55	96	0	0	0	0.00361	0	55	96				
PEG3	5178	broad.mit.edu	37	19	57325561	57325561	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57325561C>T	ENST00000326441.9	-	10	4612	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1293K|PEG3_ENST00000593695.1_Missense_Mutation_p.E1291K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1417K|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1417	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCGTTTGGCTCAGCAGCCTCC	0.597																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4249-4251)GAG>AAG		paternally expressed 3 isoform 1							44.0	46.0	45.0					19																	57325561		2203	4299	6502	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325561C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4249G>A	19.37:g.57325561C>T	ENSP00000326581:p.Glu1417Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1388K|PEG3_uc002qnv.2_Missense_Mutation_p.E1417K|PEG3_uc002qnw.2_Missense_Mutation_p.E1293K|PEG3_uc002qnx.2_Missense_Mutation_p.E1291K|PEG3_uc010etr.2_Missense_Mutation_p.E1417K	p.E1417K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4600	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1417			Glu-rich.|3 X 7 AA repeat of P-E-V-E-A-A-E.|2-3.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4249G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962557	0.53400	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.04	3.01	0.34805	.	0.140398	0.33144	N	0.005230	T	0.02304	0.0071	L	0.27053	0.805	.	.	.	B;B;B	0.27997	0.197;0.197;0.197	B;B;B	0.21708	0.036;0.036;0.036	T	0.15378	-1.0439	9	0.56958	D	0.05	-23.377	7.3837	0.26870	0.0:0.8843:0.0:0.1157	.	1293;1417;1352	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1417	ENSP00000326581:E1417K;ENSP00000403051:E1417K	ENSP00000326581:E1417K	E	-	1	0	ZIM2	62017373	0.831000	0.29352	0.800000	0.32199	0.109000	0.19521	1.430000	0.34914	1.292000	0.44672	0.655000	0.94253	GAG		0.597	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			35	168	0	0	0	0.003271	0	35	168				
PEG3	5178	broad.mit.edu	37	19	57326225	57326225	+	Silent	SNP	C	C	T	rs371048127		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57326225C>T	ENST00000326441.9	-	10	3948	c.3585G>A	c.(3583-3585)ggG>ggA	p.G1195G	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.G1071G|PEG3_ENST00000593695.1_Silent_p.G1069G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.G1195G|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1195					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATCATCACACCCCTTCATGG	0.468																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3583-3585)GGG>GGA		paternally expressed 3 isoform 1							157.0	150.0	153.0					19																	57326225		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326225C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3585G>A	19.37:g.57326225C>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G1166G|PEG3_uc002qnv.2_Silent_p.G1195G|PEG3_uc002qnw.2_Silent_p.G1071G|PEG3_uc002qnx.2_Silent_p.G1069G|PEG3_uc010etr.2_Silent_p.G1195G	p.G1195G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3936	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1195					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3585G>A	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			73	135	0	0	0	0.00361	0	73	135				
PEG3	5178	broad.mit.edu	37	19	57328907	57328907	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57328907C>A	ENST00000326441.9	-	10	1266	c.903G>T	c.(901-903)cgG>cgT	p.R301R	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.R177R|PEG3_ENST00000593695.1_Silent_p.R175R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.R301R|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	301					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATCCCCCGCCGGTGGGTTG	0.453																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(901-903)CGG>CGT		paternally expressed 3 isoform 1							48.0	57.0	54.0					19																	57328907		2203	4299	6502	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328907C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.903G>T	19.37:g.57328907C>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R272R|PEG3_uc002qnv.2_Silent_p.R301R|PEG3_uc002qnw.2_Silent_p.R177R|PEG3_uc002qnx.2_Silent_p.R175R|PEG3_uc010etr.2_Silent_p.R301R	p.R301R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1254	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	301					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.903G>T	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			96	147	1	0	2.19198e-39	0.00361	3.20139e-39	96	147				
DUXA	503835	broad.mit.edu	37	19	57672164	57672164	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57672164C>A	ENST00000554048.2	-	2	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTTTTACCATCTCTGTAGGAA	0.373																																							uc002qoa.1		NA																	0				ovary(1)	1						c.(25-27)AAG>AAT		double homeobox A							123.0	122.0	122.0					19																	57672164		2202	4300	6502	SO:0001630	splice_region_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57672164C>A		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.26-1G>T	19.37:g.57672164C>A							p.K9N	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	2	72	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	9						Missense_Mutation	SNP	ENST00000554048.2	37	c.27G>T	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526382	0.13066	.	.	ENSG00000258873	ENST00000554048	D	0.91686	-2.89	2.7	0.31	0.15825	Homeodomain-like (1);	.	.	.	.	T	0.81083	0.4749	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64411	-0.6414	9	0.16420	T	0.52	.	3.4356	0.07445	0.0:0.5637:0.2604:0.1759	.	9	A6NLW8	DUXA_HUMAN	N	9	ENSP00000452398:K9N	ENSP00000365415:K9N	K	-	3	2	DUXA	62363976	0.030000	0.19436	0.098000	0.21074	0.009000	0.06853	-0.361000	0.07612	0.144000	0.18951	-0.367000	0.07326	AAG		0.373	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	Missense_Mutation	52	30	1	0	1.54886e-18	0.00361	1.93855e-18	52	30				
ZNF805	390980	broad.mit.edu	37	19	57765287	57765287	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57765287G>T	ENST00000414468.2	+	4	1100	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	ZNF805_ENST00000535550.1_Missense_Mutation_p.G234V|ZNF805_ENST00000354309.4_Missense_Mutation_p.G234V	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTCATACCGGGGAGAAGCCC	0.517																																							uc010ygt.1		NA																	0					0						c.(1099-1101)GGG>GTG		zinc finger protein 805 isoform 1							53.0	57.0	56.0					19																	57765287		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765287G>T	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1100G>T	19.37:g.57765287G>T	ENSP00000412999:p.Gly367Val					ZNF805_uc010ygu.1_Missense_Mutation_p.G234V	p.G367V	NM_001023563	NP_001018857	Q5CZA5	ZN805_HUMAN			4	1307	+			367					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.1100G>T	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208849	0.58343	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.23552	1.9;1.9;1.9	3.76	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000948	T	0.46737	0.1408	M	0.73217	2.22	0.58432	D	0.999996	D	0.89917	1.0	D	0.77004	0.989	T	0.50127	-0.8864	10	0.87932	D	0	.	11.2852	0.49218	0.096:0.0:0.904:0.0	.	367	Q5CZA5	ZN805_HUMAN	V	234;367;234	ENSP00000440067:G234V;ENSP00000412999:G367V;ENSP00000365414:G234V	ENSP00000365414:G234V	G	+	2	0	ZNF805	62457099	0.999000	0.42202	0.853000	0.33588	0.745000	0.42441	4.750000	0.62162	1.152000	0.42452	0.563000	0.77884	GGG		0.517	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		6	60	1	0	0.00116845	0.001168	0.00119778	6	60				
TSSC1	7260	broad.mit.edu	37	2	3193150	3193150	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:3193150C>A	ENST00000382125.4	-	9	1311	c.1119G>T	c.(1117-1119)gtG>gtT	p.V373V	TSSC1_ENST00000398659.4_Silent_p.V400V|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	373										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCCTGTTGATCACGAGCCTCC	0.602																																					Colon(140;1261 1762 4183 34270 49743)	Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2		NA																	0					0						c.(1117-1119)GTG>GTT		tumor suppressing subtransferable candidate 1							49.0	43.0	45.0					2																	3193150		2192	4292	6484	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3193150C>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1119G>T	2.37:g.3193150C>A						TSSC1_uc002qxi.2_RNA	p.V373V	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1312	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	373			WD 5.		D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.1119G>T	CCDS1651.1																																																																																				0.602	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		19	14	1	0	5.35267e-07	0.007413	5.82199e-07	19	14				
CPSF3	51692	broad.mit.edu	37	2	9572814	9572814	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:9572814G>A	ENST00000238112.3	+	5	722	c.516G>A	c.(514-516)gtG>gtA	p.V172V	CPSF3_ENST00000460593.1_Silent_p.V135V	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	172					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCGCAGGCGTGAAGGTACCCT	0.458																																					Colon(194;1259 2048 3845 5218 19985)	Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1		NA																	0				breast(2)	2						c.(514-516)GTG>GTA		cleavage and polyadenylation specific factor 3,							69.0	63.0	65.0					2																	9572814		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9572814G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.516G>A	2.37:g.9572814G>A						CPSF3_uc010ewx.1_Silent_p.V172V|CPSF3_uc002qzp.1_Silent_p.V135V	p.V172V	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	551	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	172					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.516G>A	CCDS1664.1																																																																																				0.458	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		4	77	0	0	0	0.009096	0	4	77				
APOB	338	broad.mit.edu	37	2	21230494	21230494	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:21230494G>T	ENST00000233242.1	-	26	9373	c.9246C>A	c.(9244-9246)gcC>gcA	p.A3082A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3082					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTGCTGGGCACTGGGAC	0.413																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9244-9246)GCC>GCA		apolipoprotein B precursor	Atorvastatin(DB01076)						98.0	99.0	98.0					2																	21230494		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230494G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9246C>A	2.37:g.21230494G>T							p.A3082A	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9374	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3082					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.9246C>A	CCDS1703.1																																																																																				0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			145	66	1	0	5.77923e-69	0.00361	9.06184e-69	145	66				
GCKR	2646	broad.mit.edu	37	2	27726468	27726468	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:27726468G>T	ENST00000264717.2	+	9	795	c.732G>T	c.(730-732)gtG>gtT	p.V244V	GCKR_ENST00000424318.2_Silent_p.V54V	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	244	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AAGCTTTTGTGCTCAATCCTG	0.502																																							uc002rky.2		NA																	0				ovary(2)	2						c.(730-732)GTG>GTT		glucokinase regulatory protein							120.0	92.0	102.0					2																	27726468		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27726468G>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.732G>T	2.37:g.27726468G>T						GCKR_uc010ezd.2_Silent_p.V244V|GCKR_uc010ylu.1_Silent_p.V54V	p.V244V	NM_001486	NP_001477	Q14397	GCKR_HUMAN			9	798	+	Acute lymphoblastic leukemia(172;0.155)		244			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.732G>T	CCDS1757.1																																																																																				0.502	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		34	20	1	0	1.26612e-14	0.003271	1.51316e-14	34	20				
FOSL2	2355	broad.mit.edu	37	2	28635205	28635205	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:28635205G>C	ENST00000264716.4	+	4	1734	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	FOSL2_ENST00000545753.1_Missense_Mutation_p.E252Q|FOSL2_ENST00000379619.1_Missense_Mutation_p.E283Q	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	291					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGGAGCAGGAGTCACCCGC	0.612																																							uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(871-873)GAG>CAG		FOS-like antigen 2							79.0	63.0	68.0					2																	28635205		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635205G>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.871G>C	2.37:g.28635205G>C	ENSP00000264716:p.Glu291Gln					FOSL2_uc010ymi.1_Missense_Mutation_p.E252Q	p.E291Q	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1680	+	Acute lymphoblastic leukemia(172;0.155)		291					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.871G>C	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374144	0.82573	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000545753	T;T;T	0.77750	-1.12;-0.12;-1.11	5.71	5.71	0.89125	.	0.862188	0.10777	N	0.635316	T	0.78413	0.4279	M	0.68317	2.08	0.80722	D	1	P	0.41673	0.759	B	0.34824	0.19	T	0.80072	-0.1535	10	0.66056	D	0.02	-22.6008	19.8481	0.96728	0.0:0.0:1.0:0.0	.	291	P15408	FOSL2_HUMAN	Q	283;291;252	ENSP00000368939:E283Q;ENSP00000264716:E291Q;ENSP00000439303:E252Q	ENSP00000264716:E291Q	E	+	1	0	FOSL2	28488709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.370000	0.97159	2.693000	0.91896	0.655000	0.94253	GAG		0.612	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		45	76	0	0	0	0.009718	0	45	76				
CAPN13	92291	broad.mit.edu	37	2	30998891	30998891	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:30998891C>T	ENST00000295055.8	-	4	468	c.292G>A	c.(292-294)Gca>Aca	p.A98T	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.A98T	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	98	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GATCCCAGTGCTGCCAGGAAC	0.517																																							uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(292-294)GCA>ACA		calpain 13							101.0	103.0	102.0					2																	30998891		1983	4173	6156	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30998891C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.292G>A	2.37:g.30998891C>T	ENSP00000295055:p.Ala98Thr					CAPN13_uc002rnp.1_Missense_Mutation_p.A98T	p.A98T	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			4	468	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		98			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.292G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050160	0.93740	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.34275	1.37;1.37	4.52	4.52	0.55395	Peptidase C2, calpain, catalytic domain (3);	0.054706	0.64402	D	0.000001	T	0.59404	0.2191	M	0.79475	2.455	0.58432	D	0.999996	D	0.69078	0.997	D	0.66196	0.942	T	0.66052	-0.6019	10	0.87932	D	0	.	15.0928	0.72207	0.0:1.0:0.0:0.0	.	98	Q6MZZ7	CAN13_HUMAN	T	98	ENSP00000295055:A98T;ENSP00000431298:A98T	ENSP00000295055:A98T	A	-	1	0	CAPN13	30852395	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.542000	0.60677	2.216000	0.71823	0.655000	0.94253	GCA		0.517	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	90	0	0	0	0.006214	0	9	90				
GALNT14	79623	broad.mit.edu	37	2	31215713	31215713	+	Missense_Mutation	SNP	C	C	T	rs113322802		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:31215713C>T	ENST00000349752.5	-	2	929	c.290G>A	c.(289-291)cGc>cAc	p.R97H	AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000406653.1_Missense_Mutation_p.R77H|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.R97H|GALNT14_ENST00000420311.2_Missense_Mutation_p.R62H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCAGATGGCGAGTGTCCGG	0.567																																							uc002rnr.2		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(289-291)CGC>CAC		N-acetylgalactosaminyltransferase 14							102.0	100.0	100.0					2																	31215713		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215713C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.290G>A	2.37:g.31215713C>T	ENSP00000288988:p.Arg97His					GALNT14_uc002rnq.2_Missense_Mutation_p.R77H|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R62H|GALNT14_uc010ezo.1_Missense_Mutation_p.R97H|GALNT14_uc010ezp.1_Missense_Mutation_p.R68H	p.R97H	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			2	909	-	Acute lymphoblastic leukemia(172;0.155)		97			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.290G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698192	0.68386	.	.	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.72615	0.02;0.02;-0.29;0.02;-0.67	4.96	4.96	0.65561	.	.	.	.	.	D	0.86112	0.5855	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.87578	0.994;0.98;0.998;0.872;0.998	D	0.88377	0.2999	9	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	62;62;97;97;77	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	H	97;77;97;62;97	ENSP00000288988:R97H;ENSP00000385435:R77H;ENSP00000348497:R97H;ENSP00000415514:R62H;ENSP00000406399:R97H	ENSP00000288988:R97H	R	-	2	0	GALNT14	31069217	1.000000	0.71417	0.966000	0.40874	0.171000	0.22731	6.585000	0.74062	2.564000	0.86499	0.561000	0.74099	CGC		0.567	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		13	224	0	0	0	0.003163	0	13	224				
BIRC6	57448	broad.mit.edu	37	2	32694557	32694557	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:32694557A>G	ENST00000421745.2	+	30	6356	c.6222A>G	c.(6220-6222)atA>atG	p.I2074M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2074					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCCAAAGATACGGTTACATA	0.443																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(6220-6222)ATA>ATG		baculoviral IAP repeat-containing 6							265.0	243.0	250.0					2																	32694557		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32694557A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6222A>G	2.37:g.32694557A>G	ENSP00000393596:p.Ile2074Met						p.I2074M	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			30	6356	+	Acute lymphoblastic leukemia(172;0.155)		2074					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6222A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729775	0.48833	.	.	ENSG00000115760	ENST00000421745	T	0.75704	-0.96	5.26	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	L	0.50333	1.59	0.47276	D	0.999372	D	0.65815	0.995	D	0.75484	0.986	T	0.81106	-0.1083	10	0.62326	D	0.03	.	11.2713	0.49140	0.7084:0.2916:0.0:0.0	.	2074	Q9NR09	BIRC6_HUMAN	M	2074	ENSP00000393596:I2074M	ENSP00000393596:I2074M	I	+	3	3	BIRC6	32548061	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.911000	0.39937	0.907000	0.36646	0.477000	0.44152	ATA		0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		76	209	0	0	0	0.00361	0	76	209				
LTBP1	4052	broad.mit.edu	37	2	33246069	33246069	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:33246069C>A	ENST00000404816.2	+	3	1012	c.659C>A	c.(658-660)aCa>aAa	p.T220K	LTBP1_ENST00000354476.3_Missense_Mutation_p.T220K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	220					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCTGTGAAACAATAGCTGCC	0.567																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(658-660)ACA>AAA		latent transforming growth factor beta binding							153.0	155.0	154.0					2																	33246069		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246069C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.659C>A	2.37:g.33246069C>A	ENSP00000386043:p.Thr220Lys						p.T220K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			3	659	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	220					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.659C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822858	0.16678	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	D;D	0.91740	-2.9;-2.9	4.99	-3.1	0.05315	.	.	.	.	.	T	0.81143	0.4761	N	0.21142	0.635	0.34734	D	0.73001	B	0.17038	0.02	B	0.15870	0.014	T	0.67409	-0.5678	9	0.62326	D	0.03	.	1.024	0.01523	0.2842:0.2139:0.0993:0.4027	.	220	Q14766-4	.	K	220	ENSP00000386043:T220K;ENSP00000346467:T220K	ENSP00000346467:T220K	T	+	2	0	LTBP1	33099573	0.020000	0.18652	0.028000	0.17463	0.065000	0.16274	0.119000	0.15626	-0.306000	0.08818	-0.154000	0.13518	ACA		0.567	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		222	167	1	0	1.77857e-91	0.00361	2.81129e-91	222	167				
SULT6B1	391365	broad.mit.edu	37	2	37414550	37414550	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:37414550T>A	ENST00000535679.1	-	2	259	c.260A>T	c.(259-261)tAt>tTt	p.Y87F	SULT6B1_ENST00000379149.2_Missense_Mutation_p.Y87F|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Y49F|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Y49F			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	87						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGATATTTATACTTTTTTTT	0.323																																							uc002rpu.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(145-147)TAT>TTT		sulfotransferase family, cytosolic, 6B, member							48.0	51.0	50.0					2																	37414550		2201	4294	6495	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37414550T>A	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.260A>T	2.37:g.37414550T>A	ENSP00000444081:p.Tyr87Phe					SULT6B1_uc010yni.1_RNA	p.Y49F	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			2	167	-		all_hematologic(82;0.248)	87					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.146A>T		.	.	.	.	.	.	.	.	.	.	T	6.309	0.425142	0.11987	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	T;T;T;T	0.80653	-1.4;4.29;-1.4;-1.4	5.04	3.88	0.44766	Sulfotransferase domain (1);	1.248850	0.05458	N	0.550635	T	0.59473	0.2196	N	0.05441	-0.05	0.23478	N	0.997595	B	0.02656	0.0	B	0.06405	0.002	T	0.52358	-0.8586	10	0.10902	T	0.67	.	2.1635	0.03830	0.1555:0.0865:0.1617:0.5963	.	87	Q6IMI4	ST6B1_HUMAN	F	87;87;49;49	ENSP00000444081:Y87F;ENSP00000368444:Y87F;ENSP00000260637:Y49F;ENSP00000384950:Y49F	ENSP00000260637:Y49F	Y	-	2	0	SULT6B1	37268054	0.468000	0.25839	0.806000	0.32338	0.955000	0.61496	0.554000	0.23407	0.942000	0.37525	0.528000	0.53228	TAT		0.323	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		26	20	0	0	0	0.00361	0	26	20				
NRXN1	9378	broad.mit.edu	37	2	50724658	50724658	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:50724658C>A	ENST00000406316.2	-	14	4168	c.2692G>T	c.(2692-2694)Ggc>Tgc	p.G898C	NRXN1_ENST00000402717.3_Missense_Mutation_p.G890C|NRXN1_ENST00000404971.1_Missense_Mutation_p.G938C|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000405472.3_Missense_Mutation_p.G890C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G898C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G898C|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	898					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCCTGAAGCCAAATCTGGCA	0.418																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(2812-2814)GGC>TGC		neurexin 1 isoform alpha2 precursor							121.0	113.0	116.0					2																	50724658		1985	4168	6153	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724658C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2692G>T	2.37:g.50724658C>A	ENSP00000384311:p.Gly898Cys					NRXN1_uc002rxb.3_Missense_Mutation_p.G570C|NRXN1_uc002rxe.3_Missense_Mutation_p.G898C|NRXN1_uc002rxc.1_RNA	p.G938C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4289	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2812G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966239	0.92855	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89090	0.6616	M	0.80847	2.515	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.975	D	0.88518	0.3094	10	0.52906	T	0.07	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	938;898;890	Q9ULB1-3;F8WB18;A7E294	.;.;.	C	938;898;890;898;939;890;898	ENSP00000385142:G938C;ENSP00000384311:G898C;ENSP00000434015:G890C;ENSP00000385017:G898C;ENSP00000385434:G890C;ENSP00000385681:G898C	ENSP00000385017:G898C	G	-	1	0	NRXN1	50578162	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGC		0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			62	38	1	0	3.30226e-22	0.00361	4.33228e-22	62	38				
ERLEC1	27248	broad.mit.edu	37	2	54041746	54041746	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:54041746T>A	ENST00000185150.4	+	12	1424	c.1293T>A	c.(1291-1293)acT>acA	p.T431T	ERLEC1_ENST00000405123.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Silent_p.T377T	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	431					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GACAGGTGACTGTAAAACTAA	0.318																																							uc002rxl.2		NA																	0				ovary(2)	2						c.(1291-1293)ACT>ACA		erlectin isoform 1							82.0	88.0	86.0					2																	54041746		2203	4297	6500	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54041746T>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1293T>A	2.37:g.54041746T>A						ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Intron|ERLEC1_uc002rxn.2_Silent_p.T377T	p.T431T	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			12	1573	+			431					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.1293T>A	CCDS1848.1																																																																																				0.318	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		28	23	0	0	0	0.009535	0	28	23				
AFTPH	54812	broad.mit.edu	37	2	64778637	64778637	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:64778637C>G	ENST00000422803.1	+	2	343	c.29C>G	c.(28-30)tCt>tGt	p.S10C	AFTPH_ENST00000238855.7_Missense_Mutation_p.S10C|AFTPH_ENST00000409933.1_Missense_Mutation_p.S10C|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Missense_Mutation_p.S10C			Q6ULP2	AFTIN_HUMAN	aftiphilin	10					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CGAATGTACTCTTCATCCCCA	0.393																																							uc002sdc.2		NA																	0				ovary(2)	2						c.(28-30)TCT>TGT		aftiphilin protein isoform a							90.0	95.0	93.0					2																	64778637		2199	4300	6499	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778637C>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.29C>G	2.37:g.64778637C>G	ENSP00000397726:p.Ser10Cys					AFTPH_uc002scz.2_Missense_Mutation_p.S10C|AFTPH_uc002sda.2_Missense_Mutation_p.S10C|AFTPH_uc002sdb.2_Missense_Mutation_p.S10C	p.S10C	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	61	+			10					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.29C>G		.	.	.	.	.	.	.	.	.	.	C	16.70	3.196499	0.58126	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.74258	2.255	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.54529	-0.8280	10	0.66056	D	0.02	-13.9506	20.0572	0.97657	0.0:1.0:0.0:0.0	.	10;10;10;10	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	C	10	ENSP00000238856:S10C;ENSP00000397726:S10C;ENSP00000238855:S10C;ENSP00000387071:S10C	ENSP00000238855:S10C	S	+	2	0	AFTPH	64632141	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.398000	0.73244	2.826000	0.97356	0.655000	0.94253	TCT		0.393	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		16	182	0	0	0	0.004007	0	16	182				
CCDC142	84865	broad.mit.edu	37	2	74709037	74709037	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:74709037A>C	ENST00000393965.3	-	1	1324	c.928T>G	c.(928-930)Tgg>Ggg	p.W310G	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.W310G|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	310										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CAGGCTGCCCACAGCAGGGTC	0.662																																							uc002slr.2		NA																	0				central_nervous_system(1)	1						c.(928-930)TGG>GGG		coiled-coil domain containing 142							54.0	57.0	56.0					2																	74709037		2203	4300	6503	SO:0001583	missense	84865							g.chr2:74709037A>C	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.928T>G	2.37:g.74709037A>C	ENSP00000377537:p.Trp310Gly					TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.W310G|CCDC142_uc002slp.2_Missense_Mutation_p.W310G	p.W310G	NM_032779	NP_116168	Q17RM4	CC142_HUMAN			1	1321	-			310					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.928T>G		.	.	.	.	.	.	.	.	.	.	A	18.39	3.614134	0.66672	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.76839	-1.05;-1.05	4.71	4.71	0.59529	.	0.000000	0.48286	D	0.000182	D	0.86180	0.5871	M	0.74881	2.28	0.43476	D	0.995696	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.87391	0.2363	10	0.87932	D	0	-13.5094	10.7561	0.46237	1.0:0.0:0.0:0.0	.	310;310;310	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	G	310	ENSP00000377537:W310G;ENSP00000290418:W310G	ENSP00000290418:W310G	W	-	1	0	CCDC142	74562545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.492000	0.60334	2.109000	0.64355	0.533000	0.62120	TGG		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		16	129	0	0	0	0.00499	0	16	129				
DNAH6	1768	broad.mit.edu	37	2	84780069	84780069	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:84780069G>A	ENST00000237449.6	+	9	1521	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E505K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E505K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	505	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAAGCAAGAAGAAGATGAATC	0.383																																							uc010fgb.2		NA																	0				central_nervous_system(1)	1						c.(1513-1515)GAA>AAA		dynein, axonemal, heavy polypeptide 6							165.0	158.0	160.0					2																	84780069		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84780069G>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1513G>A	2.37:g.84780069G>A	ENSP00000237449:p.Glu505Lys					DNAH6_uc002soo.2_Missense_Mutation_p.E84K|DNAH6_uc002sop.2_Missense_Mutation_p.E84K	p.E505K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			10	1650	+			505			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1513G>A	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	6.060	0.379343	0.11466	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25085	1.82;1.94;1.82	5.31	4.44	0.53790	.	0.000000	0.53938	D	0.000052	T	0.35158	0.0922	L	0.59436	1.845	0.31303	N	0.688037	P;D	0.56287	0.565;0.975	B;P	0.55667	0.079;0.781	T	0.24584	-1.0156	10	0.07644	T	0.81	.	13.4887	0.61382	0.0773:0.0:0.9227:0.0	.	505;84	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	K	505	ENSP00000374045:E505K;ENSP00000381326:E505K;ENSP00000237449:E505K	ENSP00000237449:E505K	E	+	1	0	DNAH6	84633580	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	3.621000	0.54210	1.394000	0.46624	-0.222000	0.12452	GAA		0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		6	134	0	0	0	0.001984	0	6	134				
RETSAT	54884	broad.mit.edu	37	2	85571210	85571210	+	Missense_Mutation	SNP	C	C	A	rs147993013|rs386648092		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:85571210C>A	ENST00000295802.4	-	9	1557	c.1445G>T	c.(1444-1446)cGg>cTg	p.R482L	RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.R421L	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	482					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTCACTGCCCCGCTTTCCCTT	0.537																																							uc002spd.2		NA																	0				ovary(2)	2						c.(1444-1446)CGG>CTG		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)						71.0	74.0	73.0					2																	85571210		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85571210C>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1445G>T	2.37:g.85571210C>A	ENSP00000295802:p.Arg482Leu					RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.R421L|RETSAT_uc010fgf.2_Missense_Mutation_p.R273L	p.R482L	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			9	1636	-			482					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1445G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143513|5.143513	0.94603|0.94603	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000449375|ENST00000295802;ENST00000457495	.|T;T	.|0.35048	.|1.44;1.33	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66723|0.66723	0.2818|0.2818	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.998	T|T	0.73493|0.73493	-0.3965|-0.3965	5|10	.|0.72032	.|D	.|0.01	-23.6466|-23.6466	16.4449|16.4449	0.83919|0.83919	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|421;421;482	.|G5E9N3;B4DKE1;Q6NUM9	.|.;.;RETST_HUMAN	W|L	271|482;421	.|ENSP00000295802:R482L;ENSP00000405040:R421L	.|ENSP00000295802:R482L	G|R	-|-	1|2	0|0	RETSAT|RETSAT	85424721|85424721	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.968000|0.968000	0.65278|0.65278	7.382000|7.382000	0.79729|0.79729	2.561000|2.561000	0.86390|0.86390	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.537	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		89	46	1	0	8.6838e-40	0.00361	1.27588e-39	89	46				
TEX37	200523	broad.mit.edu	37	2	88828748	88828748	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:88828748G>T	ENST00000303254.3	+	4	441	c.299G>T	c.(298-300)cGc>cTc	p.R100L		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	100						nucleus (GO:0005634)											GAGGACGAGCGCAAGTTCACC	0.587																																							uc002stb.1		NA																	0				skin(1)	1						c.(298-300)CGC>CTC		chromosome 2 open reading frame 51							144.0	130.0	135.0					2																	88828748		2203	4300	6503	SO:0001583	missense	200523					nucleus		g.chr2:88828748G>T	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.299G>T	2.37:g.88828748G>T	ENSP00000307142:p.Arg100Leu						p.R100L	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			4	441	+			100						Missense_Mutation	SNP	ENST00000303254.3	37	c.299G>T	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	1.965	-0.437851	0.04636	.	.	ENSG00000172073	ENST00000303254	T	0.40756	1.02	4.08	-0.218	0.13142	.	2.245710	0.01529	N	0.018709	T	0.22589	0.0545	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.15150	-1.0447	10	0.11485	T	0.65	0.6341	6.7245	0.23348	0.517:0.0:0.483:0.0	.	100	Q96LM6	TSC21_HUMAN	L	100	ENSP00000307142:R100L	ENSP00000307142:R100L	R	+	2	0	C2orf51	88609863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.047000	0.13423	-1.450000	0.01041	CGC		0.587	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		25	195	1	0	5.45024e-15	0.00333	6.56978e-15	25	195				
TEX37	200523	broad.mit.edu	37	2	88828927	88828927	+	Missense_Mutation	SNP	C	C	T	rs375537087		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:88828927C>T	ENST00000303254.3	+	4	620	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	160						nucleus (GO:0005634)											TCCCTGTCTTCATTGCCATAT	0.532																																							uc002stb.1		NA																	0				skin(1)	1						c.(478-480)CAT>TAT		chromosome 2 open reading frame 51							88.0	82.0	84.0					2																	88828927		2203	4300	6503	SO:0001583	missense	200523					nucleus		g.chr2:88828927C>T	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.478C>T	2.37:g.88828927C>T	ENSP00000307142:p.His160Tyr						p.H160Y	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			4	620	+			160						Missense_Mutation	SNP	ENST00000303254.3	37	c.478C>T	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	C	0.452	-0.893226	0.02491	.	.	ENSG00000172073	ENST00000303254	T	0.37915	1.17	4.32	2.4	0.29515	.	0.962830	0.08552	N	0.928804	T	0.19765	0.0475	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.27739	-1.0065	10	0.23891	T	0.37	-3.1413	6.2904	0.21057	0.0:0.7594:0.0:0.2406	.	160	Q96LM6	TSC21_HUMAN	Y	160	ENSP00000307142:H160Y	ENSP00000307142:H160Y	H	+	1	0	C2orf51	88610042	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.822000	0.04448	0.677000	0.31305	0.561000	0.74099	CAT		0.532	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		32	102	0	0	0	0.003271	0	32	102				
PROM2	150696	broad.mit.edu	37	2	95952274	95952274	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:95952274C>T	ENST00000317620.9	+	17	2128	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	PROM2_ENST00000542147.1_Silent_p.L616L|PROM2_ENST00000403131.2_Silent_p.L665L|PROM2_ENST00000317668.4_Silent_p.L665L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	665					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCAAGGACTCAGAAACCTTC	0.627																																							uc002suh.1		NA																	0				ovary(1)	1						c.(1993-1995)CTC>CTT		prominin 2 precursor							59.0	61.0	60.0					2																	95952274		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95952274C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1995C>T	2.37:g.95952274C>T						PROM2_uc002sui.2_Silent_p.L665L|PROM2_uc002suj.2_Silent_p.L319L|PROM2_uc002suk.2_Silent_p.L665L|PROM2_uc002sul.2_Silent_p.L191L|PROM2_uc002sum.2_RNA	p.L665L	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			17	2128	+			665			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.1995C>T	CCDS2012.1																																																																																				0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		29	106	0	0	0	0.003271	0	29	106				
VWA3B	200403	broad.mit.edu	37	2	98709643	98709643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:98709643G>T	ENST00000477737.1	+	2	292	c.88G>T	c.(88-90)Gag>Tag	p.E30*	VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E30*|VWA3B_ENST00000451075.2_5'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	30										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACTTGGCTGAGCAGAGTCT	0.453																																							uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(88-90)GAG>TAG		von Willebrand factor A domain containing 3B							114.0	107.0	110.0					2																	98709643		1965	4166	6131	SO:0001587	stop_gained	200403							g.chr2:98709643G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.88G>T	2.37:g.98709643G>T	ENSP00000417955:p.Glu30*					VWA3B_uc010yvh.1_5'UTR|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Nonsense_Mutation_p.E30*|VWA3B_uc002syn.1_RNA	p.E30*	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			2	352	+			30					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	ENST00000477737.1	37	c.88G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704813	0.88924	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	.	.	.	5.22	-4.27	0.03744	.	0.990599	0.08217	N	0.979737	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.786	0.03041	0.3669:0.2183:0.3041:0.1107	.	.	.	.	X	30	.	ENSP00000411168:E30X	E	+	1	0	VWA3B	98076075	0.162000	0.22906	0.001000	0.08648	0.551000	0.35334	0.419000	0.21247	-0.614000	0.05687	-0.145000	0.13849	GAG		0.453	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		20	115	1	0	4.63292e-17	0.008871	5.76176e-17	20	115				
IL36B	27177	broad.mit.edu	37	2	113788630	113788630	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:113788630T>A	ENST00000259213.4	-	3	223	c.116A>T	c.(115-117)aAg>aTg	p.K39M	IL36B_ENST00000327407.2_Missense_Mutation_p.K39M	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	39					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CTCACCAGGCTTAATGCTGCG	0.507																																							uc002tiq.1		NA																	0				ovary(1)	1						c.(115-117)AAG>ATG		interleukin 1 family, member 8 isoform 1							98.0	86.0	90.0					2																	113788630		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113788630T>A	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.116A>T	2.37:g.113788630T>A	ENSP00000259213:p.Lys39Met					IL1F8_uc002tir.1_Missense_Mutation_p.K39M	p.K39M	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN			3	220	-			39					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.116A>T	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	13.90	2.376069	0.42105	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.17213	2.29;2.29	3.04	0.266	0.15617	.	0.409477	0.20472	N	0.091680	T	0.21631	0.0521	L	0.43923	1.385	0.09310	N	1	D;D	0.64830	0.965;0.994	P;P	0.61940	0.741;0.896	T	0.06356	-1.0831	10	0.52906	T	0.07	.	2.199	0.03918	0.2498:0.1477:0.0:0.6024	.	39;39	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	M	39	ENSP00000259213:K39M;ENSP00000328420:K39M	ENSP00000259213:K39M	K	-	2	0	IL36B	113505101	0.000000	0.05858	0.007000	0.13788	0.278000	0.26855	-0.291000	0.08343	0.392000	0.25172	0.414000	0.27820	AAG		0.507	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		41	37	0	0	0	0.013114	0	41	37				
CCDC93	54520	broad.mit.edu	37	2	118706927	118706927	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:118706927G>A	ENST00000376300.2	-	14	1250	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CCDC93_ENST00000460781.1_5'Flank|CCDC93_ENST00000319432.5_Silent_p.L370L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	371										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTATCTTCTCGAGGGCTGCTT	0.433																																							uc002tlj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1111-1113)CTC>CTT		coiled-coil domain containing 93							242.0	205.0	218.0					2																	118706927		2203	4300	6503	SO:0001819	synonymous_variant	54520							g.chr2:118706927G>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1113C>T	2.37:g.118706927G>A						CCDC93_uc010fld.1_Silent_p.L371L	p.L371L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			14	1239	-			371			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	c.1113C>T	CCDS2121.2																																																																																				0.433	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		7	145	0	0	0	0.00308	0	7	145				
GLI2	2736	broad.mit.edu	37	2	121747580	121747580	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:121747580G>A	ENST00000452319.1	+	14	4150	c.4090G>A	c.(4090-4092)Gca>Aca	p.A1364T	GLI2_ENST00000361492.4_Missense_Mutation_p.A1364T|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTGGCTACAGCAGGCTTTGG	0.697																																							uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4090-4092)GCA>ACA		GLI-Kruppel family member GLI2							11.0	12.0	12.0					2																	121747580		2185	4280	6465	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747580G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4090G>A	2.37:g.121747580G>A	ENSP00000390436:p.Ala1364Thr					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.A1036T|GLI2_uc002tmu.3_Missense_Mutation_p.A1019T	p.A1364T	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4120	+	Renal(3;0.0496)	Prostate(154;0.0623)	1364						Missense_Mutation	SNP	ENST00000452319.1	37	c.4090G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	1.207	-0.630922	0.03584	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13901	2.55;2.55	4.18	-4.82	0.03171	.	1.423140	0.04342	N	0.354180	T	0.12561	0.0305	L	0.54323	1.7	0.09310	N	1	B;B	0.26809	0.099;0.16	B;B	0.25291	0.04;0.059	T	0.33033	-0.9884	9	.	.	.	.	6.8223	0.23864	0.0:0.3341:0.4104:0.2555	.	1364;1019	P10070;P10070-2	GLI2_HUMAN;.	T	1364	ENSP00000390436:A1364T;ENSP00000354586:A1364T	.	A	+	1	0	GLI2	121464050	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	-0.337000	0.07852	-0.825000	0.04290	0.455000	0.32223	GCA		0.697	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	31	0	0	0	0.00308	0	7	31				
NIFK	84365	broad.mit.edu	37	2	122493196	122493196	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:122493196C>A	ENST00000285814.4	-	2	308	c.236G>T	c.(235-237)aGt>aTt	p.S79I		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		79	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TACCCTTTTACTTCTGGACAG	0.393																																							uc002tnk.2		NA																	0					0						c.(235-237)AGT>ATT		MKI67 interacting nucleolar phosphoprotein							111.0	112.0	112.0					2																	122493196		2203	4300	6503	SO:0001583	missense	84365				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122493196C>A																												ENST00000285814.4:c.236G>T	2.37:g.122493196C>A	ENSP00000285814:p.Ser79Ile					MKI67IP_uc010fls.2_Missense_Mutation_p.S79I	p.S79I	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN			2	313	-			79			RRM.		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	c.236G>T	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399916	0.83120	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.36699	1.24;1.24	4.28	4.28	0.50868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.75085	2.285	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.69654	0.965;0.936	T	0.62812	-0.6775	10	0.87932	D	0	-15.0671	12.5486	0.56214	0.0:1.0:0.0:0.0	.	79;79	B4DSM4;Q9BYG3	.;MK67I_HUMAN	I	79;79;47	ENSP00000285814:S79I;ENSP00000398116:S47I	ENSP00000285814:S79I	S	-	2	0	MKI67IP	122209666	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.058000	0.71126	2.093000	0.63338	0.561000	0.74099	AGT		0.393	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			7	73	1	0	7.48243e-07	0.006214	8.12047e-07	7	73				
TUBA3E	112714	broad.mit.edu	37	2	130951518	130951518	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:130951518G>T	ENST00000312988.7	-	4	997	c.897C>A	c.(895-897)gcC>gcA	p.A299A		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	299					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCATCTGATTGGCTGGCTCGA	0.597																																							uc002tqv.2		NA																	0				skin(1)	1						c.(895-897)GCC>GCA		tubulin, alpha 3e							146.0	124.0	132.0					2																	130951518		2203	4298	6501	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951518G>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.897C>A	2.37:g.130951518G>T							p.A299A	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	998	-	Colorectal(110;0.1)		299						Silent	SNP	ENST00000312988.7	37	c.897C>A	CCDS2158.1																																																																																				0.597	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		151	111	1	0	1.95521e-66	0.00361	3.05598e-66	151	111				
MAP3K19	80122	broad.mit.edu	37	2	135745613	135745613	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:135745613G>A	ENST00000375845.3	-	7	859	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L294F|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L164F	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	277							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GAAGACCTGAGAGTCGGATCC	0.478																																							uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(829-831)CTC>TTC		Yeast Sps1/Ste20-related kinase 4 isoform 1							93.0	94.0	94.0					2																	135745613		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745613G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.829C>T	2.37:g.135745613G>A	ENSP00000365005:p.Leu277Phe					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.L164F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.L5F|YSK4_uc002tui.3_Missense_Mutation_p.L294F	p.L277F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	860	-			277					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.829C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455233	0.26161	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.78595	-1.19;-1.13;1.15	4.95	4.07	0.47477	.	0.000000	0.36482	N	0.002565	T	0.70649	0.3248	L	0.47190	1.495	0.21579	N	0.999632	P;P;B	0.50272	0.834;0.933;0.405	B;P;B	0.45406	0.363;0.479;0.199	T	0.66296	-0.5959	10	0.87932	D	0	.	5.1964	0.15241	0.08:0.1427:0.63:0.1474	.	164;294;277	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	F	277;164;294	ENSP00000365005:L277F;ENSP00000351140:L164F;ENSP00000376647:L294F	ENSP00000351140:L164F	L	-	1	0	YSK4	135462083	0.744000	0.28250	0.487000	0.27428	0.085000	0.17905	2.122000	0.41987	1.318000	0.45170	-0.142000	0.14014	CTC		0.478	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		43	121	0	0	0	0.007835	0	43	121				
LRP1B	53353	broad.mit.edu	37	2	141135754	141135754	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:141135754C>G	ENST00000389484.3	-	68	11604	c.10633G>C	c.(10633-10635)Gat>Cat	p.D3545H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3545	LDL-receptor class A 26. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTACCTCATCAGAGCCATCT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10633-10635)GAT>CAT		low density lipoprotein-related protein 1B							98.0	89.0	92.0					2																	141135754		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141135754C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10633G>C	2.37:g.141135754C>G	ENSP00000374135:p.Asp3545His	TSP Lung(27;0.18)					p.D3545H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	68	11605	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3545			Extracellular (Potential).|LDL-receptor class A 26.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10633G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498419	0.85069	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99150	-5.49	5.48	5.48	0.80851	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	H	0.99238	4.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97222	0.9878	10	0.87932	D	0	.	19.3528	0.94395	0.0:1.0:0.0:0.0	.	3545	Q9NZR2	LRP1B_HUMAN	H	3545;3483	ENSP00000374135:D3545H	ENSP00000374135:D3545H	D	-	1	0	LRP1B	140852224	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.571000	0.86741	0.591000	0.81541	GAT		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	89	0	0	0	0.004672	0	3	89				
ARHGAP15	55843	broad.mit.edu	37	2	144381793	144381793	+	Silent	SNP	G	G	T	rs552611087		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:144381793G>T	ENST00000295095.6	+	12	1262	c.1095G>T	c.(1093-1095)ccG>ccT	p.P365P		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	365	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGCCTGAGCCGCTCTTCCCTT	0.488																																							uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(1093-1095)CCG>CCT		ARHGAP15							91.0	84.0	87.0					2																	144381793		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381793G>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1095G>T	2.37:g.144381793G>T						ARHGAP15_uc002tvn.2_Silent_p.P131P	p.P365P	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1246	+			365			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1095G>T	CCDS2184.1																																																																																				0.488	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		54	31	1	0	9.57592e-29	0.00361	1.32736e-28	54	31				
MBD5	55777	broad.mit.edu	37	2	149243347	149243347	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:149243347A>G	ENST00000407073.1	+	11	3879	c.2882A>G	c.(2881-2883)cAt>cGt	p.H961R	MBD5_ENST00000404807.1_Missense_Mutation_p.H1194R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	961					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGAGTAACCATCAACTGACT	0.383																																							uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(2881-2883)CAT>CGT		methyl-CpG binding domain protein 5							62.0	56.0	58.0					2																	149243347		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149243347A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2882A>G	2.37:g.149243347A>G	ENSP00000386049:p.His961Arg					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.H961R|MBD5_uc002two.2_Missense_Mutation_p.H219R|MBD5_uc002twp.2_Missense_Mutation_p.H11R	p.H961R	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	3870	+			961					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2882A>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.182379|4.182379	0.78677|0.78677	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.20881|.	2.04;2.04|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.54175|0.54175	0.1842|0.1842	L|L	0.27053|0.27053	0.805|0.805	0.41880|0.41880	D|D	0.99031|0.99031	D;D|.	0.61080|.	0.989;0.989|.	D;D|.	0.72625|.	0.978;0.978|.	T|T	0.52162|0.52162	-0.8612|-0.8612	10|5	0.72032|.	D|.	0.01|.	-6.7637|-6.7637	15.5471|15.5471	0.76112|0.76112	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1194;961|.	E9PHH0;Q9P267|.	.;MBD5_HUMAN|.	R|V	961;1194|934	ENSP00000386049:H961R;ENSP00000384672:H1194R|.	ENSP00000384672:H1194R|.	H|I	+|+	2|1	0|0	MBD5|MBD5	148959817|148959817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.406000|4.406000	0.59748|0.59748	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	CAT|ATC		0.383	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			6	51	0	0	0	0.001168	0	6	51				
NEB	4703	broad.mit.edu	37	2	152543993	152543993	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:152543993G>A	ENST00000172853.10	-	27	2724	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	NEB_ENST00000603639.1_Silent_p.L859L|NEB_ENST00000409198.1_Silent_p.L859L|NEB_ENST00000397345.3_Silent_p.L859L|NEB_ENST00000427231.2_Silent_p.L859L|NEB_ENST00000604864.1_Silent_p.L859L			P20929	NEBU_HUMAN	nebulin	859					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTAATGCTGAGGGCTCCAA	0.438																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2575-2577)CTC>CTT		nebulin isoform 3							266.0	253.0	257.0					2																	152543993		1976	4161	6137	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152543993G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2577C>T	2.37:g.152543993G>A							p.L859L	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	27	2768	-			859			Nebulin 20.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.2577C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		93	256	0	0	0	0.00361	0	93	256				
KCNJ3	3760	broad.mit.edu	37	2	155711521	155711521	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:155711521C>G	ENST00000295101.2	+	3	1679	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	401					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAACTACCATCTAAGCTGCAG	0.398																																							uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1201-1203)TCT>TGT		potassium inwardly-rectifying channel J3	Halothane(DB01159)						96.0	104.0	101.0					2																	155711521		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711521C>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1202C>G	2.37:g.155711521C>G	ENSP00000295101:p.Ser401Cys					KCNJ3_uc010zce.1_3'UTR	p.S401C	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1397	+			401			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1202C>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085681	0.55861	.	.	ENSG00000162989	ENST00000295101	D	0.89617	-2.54	5.86	5.86	0.93980	.	0.500352	0.22978	N	0.053348	D	0.83571	0.5283	N	0.24115	0.695	0.80722	D	1	P	0.35527	0.507	B	0.34038	0.174	D	0.83794	0.0232	10	0.56958	D	0.05	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	401	P48549	IRK3_HUMAN	C	401	ENSP00000295101:S401C	ENSP00000295101:S401C	S	+	2	0	KCNJ3	155419767	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	TCT		0.398	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		9	226	0	0	0	0.004482	0	9	226				
PLA2R1	22925	broad.mit.edu	37	2	160813066	160813066	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:160813066C>T	ENST00000283243.7	-	21	3183	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E993K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	993	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCCCTTCTTCAGCACAGAAA	0.433																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(2977-2979)GAA>AAA		phospholipase A2 receptor 1 isoform 1 precursor							141.0	124.0	130.0					2																	160813066		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160813066C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2977G>A	2.37:g.160813066C>T	ENSP00000283243:p.Glu993Lys					PLA2R1_uc010zcp.1_Missense_Mutation_p.E993K|PLA2R1_uc002ubf.2_Missense_Mutation_p.E993K	p.E993K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			21	3184	-			993			Extracellular (Potential).|C-type lectin 6.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2977G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511756	0.04200	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16597	2.33;2.33	5.98	4.98	0.66077	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.791226	0.12075	N	0.501829	T	0.13243	0.0321	L	0.41710	1.295	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12837	0.008;0.006;0.007	T	0.37526	-0.9702	10	0.15066	T	0.55	.	6.4638	0.21970	0.0:0.6603:0.1448:0.1949	.	993;993;993	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	K	993	ENSP00000283243:E993K;ENSP00000376524:E993K	ENSP00000283243:E993K	E	-	1	0	PLA2R1	160521312	0.000000	0.05858	0.057000	0.19452	0.006000	0.05464	0.092000	0.15066	1.279000	0.44446	0.650000	0.86243	GAA		0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			6	112	0	0	0	0.001168	0	6	112				
PLA2R1	22925	broad.mit.edu	37	2	160813073	160813073	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:160813073G>A	ENST00000283243.7	-	21	3176	c.2970C>T	c.(2968-2970)ttC>ttT	p.F990F	PLA2R1_ENST00000392771.1_Silent_p.F990F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	990	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCAGCACAGAAATGTTGAG	0.438																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(2968-2970)TTC>TTT		phospholipase A2 receptor 1 isoform 1 precursor							144.0	126.0	132.0					2																	160813073		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160813073G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2970C>T	2.37:g.160813073G>A						PLA2R1_uc010zcp.1_Silent_p.F990F|PLA2R1_uc002ubf.2_Silent_p.F990F	p.F990F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			21	3177	-			990			Extracellular (Potential).|C-type lectin 6.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.2970C>T	CCDS33309.1																																																																																				0.438	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			5	117	0	0	0	0.001168	0	5	117				
GCG	2641	broad.mit.edu	37	2	163004015	163004015	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:163004015T>A	ENST00000418842.2	-	3	356	c.102A>T	c.(100-102)tcA>tcT	p.S34S	GCG_ENST00000375497.3_Silent_p.S34S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	34					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CCTGGGAAGCTGAGAATGATC	0.448																																							uc002ucc.2		NA																	0					0						c.(100-102)TCA>TCT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						258.0	252.0	254.0					2																	163004015		2009	4181	6190	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163004015T>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.102A>T	2.37:g.163004015T>A							p.S34S	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	201	-			34					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.102A>T	CCDS46439.1																																																																																				0.448	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		112	283	0	0	0	0.00361	0	112	283				
SCN9A	6335	broad.mit.edu	37	2	167108323	167108323	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:167108323C>T	ENST00000409435.1	-	17	3423	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1143K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E1143K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1131K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1142					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTTCAGCCTCTGCTTCTTCT	0.473																																							uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(3391-3393)GAG>AAG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						108.0	103.0	104.0					2																	167108323		1917	4126	6043	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167108323C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3424G>A	2.37:g.167108323C>T	ENSP00000386330:p.Glu1142Lys					uc002udp.2_RNA	p.E1131K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			18	3732	-			1142					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.3391G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734599	0.89482	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.82	5.82	0.92795	.	0.337134	0.25756	N	0.028510	D	0.89093	0.6617	M	0.89840	3.065	0.58432	D	0.999997	B	0.27316	0.175	B	0.38264	0.269	D	0.85840	0.1397	10	0.25751	T	0.34	.	19.6917	0.96005	0.0:1.0:0.0:0.0	.	1131	E7EUN6	.	K	1131;1143;1143;1142	ENSP00000386306:E1131K;ENSP00000364536:E1143K;ENSP00000304748:E1143K;ENSP00000386330:E1142K	ENSP00000304748:E1143K	E	-	1	0	SCN9A	166816569	0.997000	0.39634	0.998000	0.56505	0.984000	0.73092	4.357000	0.59436	2.751000	0.94390	0.650000	0.86243	GAG		0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		4	85	0	0	0	0.009096	0	4	85				
CHN1	1123	broad.mit.edu	37	2	175779854	175779854	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:175779854A>C	ENST00000409900.3	-	5	505	c.192T>G	c.(190-192)atT>atG	p.I64M	CHN1_ENST00000409156.3_Missense_Mutation_p.I64M|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	64	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTCAGCCACAATCAAGAGCT	0.478			T	TAF15	extraskeletal myxoid chondrosarcoma																																		uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(190-192)ATT>ATG		chimerin (chimaerin) 1 isoform a							39.0	40.0	40.0					2																	175779854		1909	4132	6041	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175779854A>C		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.192T>G	2.37:g.175779854A>C	ENSP00000386741:p.Ile64Met					CHN1_uc010zeq.1_Missense_Mutation_p.I64M|CHN1_uc002ujj.2_Translation_Start_Site	p.I64M	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		5	722	-			64			SH2.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.192T>G	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.278268	0.40294	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.62788	0.0;0.0	5.72	0.712	0.18167	SH2 motif (4);	0.116921	0.85682	D	0.000000	T	0.30854	0.0778	N	0.01789	-0.72	0.26291	N	0.978122	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24512	-1.0158	10	0.38643	T	0.18	.	9.4262	0.38581	0.5851:0.0:0.4149:0.0	.	64;64	B4DV19;P15882	.;CHIN_HUMAN	M	64	ENSP00000386741:I64M;ENSP00000386470:I64M	ENSP00000386470:I64M	I	-	3	3	CHN1	175488100	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.988000	0.40697	0.179000	0.19938	0.533000	0.62120	ATT		0.478	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		13	36	0	0	0	0.001368	0	13	36				
DFNB59	494513	broad.mit.edu	37	2	179325880	179325880	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179325880G>A	ENST00000409117.3	+	7	1294	c.938G>A	c.(937-939)gGa>gAa	p.G313E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G313E	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	313					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATACTCTGTGGAATGGGGAAC	0.413																																							uc002umi.3		NA																	0					0						c.(937-939)GGA>GAA		deafness, autosomal recessive 59							186.0	170.0	175.0					2																	179325880		1861	4114	5975	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179325880G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.938G>A	2.37:g.179325880G>A	ENSP00000386647:p.Gly313Glu					DFNB59_uc002umj.3_Missense_Mutation_p.G313E	p.G313E	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1294	+			313					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.938G>A	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165282	0.94768	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.01197	5.19;5.19	5.77	5.77	0.91146	.	0.000000	0.64402	U	0.000019	T	0.03915	0.0110	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66980	-0.5786	10	0.35671	T	0.21	-19.5847	19.978	0.97315	0.0:0.0:1.0:0.0	.	313	Q0ZLH3	PJVK_HUMAN	E	313	ENSP00000386647:G313E;ENSP00000364271:G313E	ENSP00000364271:G313E	G	+	2	0	DFNB59	179034126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.733000	0.93635	0.557000	0.71058	GGA		0.413	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			67	187	0	0	0	0.00361	0	67	187				
TTN	7273	broad.mit.edu	37	2	179648873	179648873	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179648873T>A	ENST00000591111.1	-	16	2923	c.2699A>T	c.(2698-2700)aAg>aTg	p.K900M	TTN_ENST00000360870.5_Missense_Mutation_p.K900M|TTN_ENST00000589042.1_Missense_Mutation_p.K900M|TTN_ENST00000342992.6_Missense_Mutation_p.K900M|TTN_ENST00000359218.5_Missense_Mutation_p.K854M|TTN_ENST00000460472.2_Missense_Mutation_p.K854M|TTN_ENST00000342175.6_Missense_Mutation_p.K854M			Q8WZ42	TITIN_HUMAN	titin	33937					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)			CCCTACTTCCTTTTTCACCTC	0.547																																							uc010zfg.1		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.(2698-2700)AAG>ATG		titin isoform N2-A							162.0	127.0	139.0					2																	179648873		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648873T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2699A>T	2.37:g.179648873T>A	ENSP00000465570:p.Lys900Met					TTN_uc010zfh.1_Missense_Mutation_p.K854M|TTN_uc010zfi.1_Missense_Mutation_p.K854M|TTN_uc010zfj.1_Missense_Mutation_p.K854M|TTN_uc002unb.2_Missense_Mutation_p.K900M	p.K900M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2923	-			900					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.2699A>T		.	.	.	.	.	.	.	.	.	.	T	12.38	1.921364	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.03;-0.04;-0.02;0.19	5.52	5.52	0.82312	Ribonuclease H-like (1);	.	.	.	.	T	0.70386	0.3218	L	0.32530	0.975	0.23162	N	0.998193	D;D;D;D;D	0.76494	0.976;0.976;0.976;0.976;0.999	P;P;P;P;D	0.65443	0.72;0.72;0.72;0.72;0.935	T	0.62258	-0.6892	9	0.87932	D	0	.	8.393	0.32540	0.0:0.1466:0.0:0.8534	.	854;854;854;900;900	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	900;854;854;854;854;900	ENSP00000343764:K900M;ENSP00000434586:K854M;ENSP00000340554:K854M;ENSP00000352154:K854M;ENSP00000354117:K900M	ENSP00000340554:K854M	K	-	2	0	TTN	179357118	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.432000	0.34936	2.234000	0.73211	0.533000	0.62120	AAG		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	158	0	0	0	0.00361	0	50	158				
CCDC141	285025	broad.mit.edu	37	2	179736888	179736888	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179736888C>A	ENST00000420890.2	-	13	2168	c.2051G>T	c.(2050-2052)tGg>tTg	p.W684L	CCDC141_ENST00000295723.5_Missense_Mutation_p.W109L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	684										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAATGCCGCCCACTGCTGTTT	0.478																																							uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(325-327)TGG>TTG		coiled-coil domain containing 141							146.0	118.0	128.0					2																	179736888		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736888C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2051G>T	2.37:g.179736888C>A	ENSP00000395995:p.Trp684Leu						p.W109L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		3	383	-			109			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.326G>T		.	.	.	.	.	.	.	.	.	.	C	13.82	2.351461	0.41700	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.50548	0.74;1.35;1.35;1.38	5.51	5.51	0.81932	.	0.137684	0.33813	N	0.004537	T	0.50120	0.1597	L	0.32530	0.975	0.33393	D	0.576312	D	0.67145	0.996	P	0.62740	0.906	T	0.45469	-0.9259	10	0.05620	T	0.96	-4.0962	14.9646	0.71182	0.0:1.0:0.0:0.0	.	109	Q6ZP82	CC141_HUMAN	L	684;128;109;684;619	ENSP00000395995:W684L;ENSP00000344627:W128L;ENSP00000295723:W109L;ENSP00000390190:W684L	ENSP00000295723:W109L	W	-	2	0	CCDC141	179445133	1.000000	0.71417	0.997000	0.53966	0.037000	0.13140	3.957000	0.56730	2.574000	0.86865	0.558000	0.71614	TGG		0.478	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		39	42	1	0	1.04594e-18	0.00623	1.31077e-18	39	42				
ZNF804A	91752	broad.mit.edu	37	2	185802298	185802298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:185802298G>A	ENST00000302277.6	+	4	2769	c.2175G>A	c.(2173-2175)tgG>tgA	p.W725*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	725							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGTTGTTGGAAAACCAAAA	0.323																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2173-2175)TGG>TGA		zinc finger protein 804A							54.0	51.0	52.0					2																	185802298		2202	4296	6498	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802298G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2175G>A	2.37:g.185802298G>A	ENSP00000303252:p.Trp725*						p.W725*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2769	+			725					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2175G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	43	9.858887	0.99281	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.96	4.16	0.48862	.	0.118375	0.39341	N	0.001396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1893	12.4705	0.55783	0.0:0.1276:0.7393:0.133	.	.	.	.	X	725	.	ENSP00000303252:W725X	W	+	3	0	ZNF804A	185510543	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.934000	0.40163	0.846000	0.35142	0.655000	0.94253	TGG		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		24	85	0	0	0	0.002299	0	24	85				
COL3A1	1281	broad.mit.edu	37	2	189871112	189871112	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:189871112T>G	ENST00000304636.3	+	43	3305	c.3135T>G	c.(3133-3135)gcT>gcG	p.A1045A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1045	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCCTGGCGCTCCTGGTCATC	0.478																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3133-3135)GCT>GCG		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						83.0	85.0	84.0					2																	189871112		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189871112T>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3135T>G	2.37:g.189871112T>G							p.A1045A	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		43	3252	+			1045			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.3135T>G	CCDS2297.1																																																																																				0.478	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		25	92	0	0	0	0.003954	0	25	92				
COL5A2	1290	broad.mit.edu	37	2	189916209	189916209	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:189916209T>A	ENST00000374866.3	-	42	3044		c.e42-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGAGCTCCCTAGTATAACAA	0.562																																							uc002uqk.2		NA																	0				ovary(2)	2						c.e42-1		alpha 2 type V collagen preproprotein							22.0	24.0	24.0					2																	189916209		2202	4299	6501	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189916209T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2770-2A>T	2.37:g.189916209T>A						COL5A2_uc010frx.2_Splice_Site_p.G500_splice	p.G924_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		42	3045	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37	c.2770_splice	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898429	0.91962	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2468	0.82449	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189624454	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	7.349000	0.79376	2.236000	0.73375	0.524000	0.50904	.		0.562	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	15	65	0	0	0	0.004007	0	15	65				
HIBCH	26275	broad.mit.edu	37	2	191116925	191116925	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:191116925C>G	ENST00000359678.5	-	8	920	c.626G>C	c.(625-627)aGa>aCa	p.R209T	HIBCH_ENST00000392332.3_Missense_Mutation_p.R209T|HIBCH_ENST00000410045.1_5'Flank	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	209					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AATTCCTGCTCTGTACACATC	0.388																																							uc002uru.2		NA																	0					0						c.(625-627)AGA>ACA		3-hydroxyisobutyryl-Coenzyme A hydrolase isoform							104.0	94.0	97.0					2																	191116925		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191116925C>G	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.626G>C	2.37:g.191116925C>G	ENSP00000352706:p.Arg209Thr					HIBCH_uc002urv.2_Missense_Mutation_p.R209T	p.R209T	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		8	709	-			209					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.626G>C	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486098	0.26686	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.73258	-0.33;-0.73;-0.33	5.37	-0.808	0.10868	Crotonase, core (1);	0.418407	0.29722	N	0.011371	T	0.45438	0.1342	N	0.16066	0.365	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.0	T	0.06734	-1.0810	10	0.23891	T	0.37	-1.4747	7.1407	0.25554	0.0:0.4251:0.1387:0.4362	.	209;209	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	T	209;209;263	ENSP00000376144:R209T;ENSP00000352706:R209T;ENSP00000387247:R263T	ENSP00000352706:R209T	R	-	2	0	HIBCH	190825170	0.995000	0.38212	0.961000	0.40146	0.996000	0.88848	0.935000	0.28924	-0.081000	0.12662	0.563000	0.77884	AGA		0.388	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			15	111	0	0	0	0.00499	0	15	111				
PGAP1	80055	broad.mit.edu	37	2	197706049	197706049	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:197706049C>T	ENST00000354764.4	-	27	2792	c.2678G>A	c.(2677-2679)gGt>gAt	p.G893D		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	893					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGCAATCACACCAACAGCCAG	0.368																																							uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2677-2679)GGT>GAT		GPI deacylase							87.0	81.0	83.0					2																	197706049		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197706049C>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2678G>A	2.37:g.197706049C>T	ENSP00000346809:p.Gly893Asp					PGAP1_uc002utx.2_Missense_Mutation_p.G719D|PGAP1_uc010fsi.2_Missense_Mutation_p.G132D	p.G893D	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			27	2792	-			893			Cytoplasmic (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.2678G>A	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652670	0.67472	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	.	.	.	4.89	3.99	0.46301	.	0.291697	0.31859	N	0.006941	T	0.33059	0.0850	N	0.19112	0.55	0.80722	D	1	P;B	0.50617	0.937;0.18	P;B	0.44394	0.448;0.112	T	0.05937	-1.0855	9	0.36615	T	0.2	-5.194	9.0677	0.36473	0.1387:0.4826:0.3787:0.0	.	719;893	Q75T13-2;Q75T13	.;PGAP1_HUMAN	D	893;130	.	ENSP00000346809:G893D	G	-	2	0	PGAP1	197414294	0.999000	0.42202	0.994000	0.49952	0.994000	0.84299	1.679000	0.37597	1.260000	0.44134	0.585000	0.79938	GGT		0.368	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		19	74	0	0	0	0.010504	0	19	74				
AOX1	316	broad.mit.edu	37	2	201523948	201523948	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:201523948G>A	ENST00000374700.2	+	28	3473	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1078					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAAGCACAGAAACTGTCCC	0.438																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(3232-3234)GAA>AAA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						151.0	138.0	142.0					2																	201523948		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201523948G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3232G>A	2.37:g.201523948G>A	ENSP00000363832:p.Glu1078Lys					AOX1_uc010zhf.1_Missense_Mutation_p.E634K|AOX1_uc010fsu.2_Missense_Mutation_p.E444K	p.E1078K	NM_001159	NP_001150	Q06278	ADO_HUMAN			28	3333	+			1078					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3232G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889317	0.52014	.	.	ENSG00000138356	ENST00000374700	T	0.42513	0.97	4.97	4.97	0.65823	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.581791	0.19971	N	0.101982	T	0.34919	0.0914	L	0.47016	1.485	0.34919	D	0.748254	B	0.19935	0.04	B	0.29440	0.102	T	0.42447	-0.9451	10	0.35671	T	0.21	-14.0952	5.921	0.19082	0.2253:0.0:0.7747:0.0	.	1078	Q06278	ADO_HUMAN	K	1078	ENSP00000363832:E1078K	ENSP00000363832:E1078K	E	+	1	0	AOX1	201232193	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.277000	0.72608	2.575000	0.86900	0.561000	0.74099	GAA		0.438	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		8	204	0	0	0	0.00308	0	8	204				
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:201761901C>G	ENST00000409020.1	+	5	1123	c.829C>G	c.(829-831)Cat>Gat	p.H277D	NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000409588.1_Intron|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250D			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423																																							uc002uwm.2		NA																	0				skin(1)	1						c.(829-831)CAT>GAT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							128.0	118.0	121.0					2																	201761901		1892	4117	6009	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201761901C>G	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.829C>G	2.37:g.201761901C>G	ENSP00000386394:p.His277Asp					NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron	p.H277D	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			5	920	+			277					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.829C>G	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922547	0.73213	.	.	ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.01	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.69523	2.12	0.80722	D	1	P	0.39862	0.692	P	0.54238	0.746	T	0.57991	-0.7715	10	0.36615	T	0.2	-18.1604	15.4984	0.75677	0.0:0.9337:0.0:0.0663	.	277	Q9GZT8	NIF3L_HUMAN	D	277;277;250;277	ENSP00000400787:H277D;ENSP00000386394:H277D;ENSP00000352711:H250D;ENSP00000387315:H277D	ENSP00000352711:H250D	H	+	1	0	NIF3L1	201470146	0.948000	0.32251	0.733000	0.30861	0.963000	0.63663	2.164000	0.42387	1.554000	0.49487	-0.137000	0.14449	CAT		0.423	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		34	139	0	0	0	0.003271	0	34	139				
NRP2	8828	broad.mit.edu	37	2	206610568	206610569	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:206610568_206610569GG>AT	ENST00000357785.5	+	10	1771_1772	c.1740_1741GG>AT	c.(1738-1743)ccGGcg>ccATcg	p.A581S	NRP2_ENST00000540178.1_Missense_Mutation_p.A581S|NRP2_ENST00000412873.2_Missense_Mutation_p.A581S|NRP2_ENST00000540841.1_Missense_Mutation_p.A581S|NRP2_ENST00000272849.3_Missense_Mutation_p.A581S|NRP2_ENST00000357118.4_Missense_Mutation_p.A581S|NRP2_ENST00000360409.3_Missense_Mutation_p.A581S			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTGGTCGCCGGCGGGGATTGG	0.579																																							uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1738-1743)CCGGCG>CCATCG		neuropilin 2 isoform 1 precursor																																				SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206610568_206610569GG>AT	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	Exception_encountered	2.37:g.206610568_206610569delinsAT	ENSP00000350432:p.Ala581Ser					NRP2_uc002vau.2_Missense_Mutation_p.A581S|NRP2_uc002vav.2_Missense_Mutation_p.A581S|NRP2_uc002vax.2_Missense_Mutation_p.A581S|NRP2_uc002vay.2_Missense_Mutation_p.A581S	p.A581S	NM_201266	NP_957718	O60462	NRP2_HUMAN			10	2531_2532	+			581			Extracellular (Potential).|F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	DNP	ENST00000357785.5	37	c.1740_1741GG>AT	CCDS46496.1																																																																																				0.579	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			54	50	0	0	0	0.004672	0	54	50				
INO80D	54891	broad.mit.edu	37	2	206869607	206869607	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:206869607C>A	ENST00000403263.1	-	11	2973	c.2569G>T	c.(2569-2571)Gca>Tca	p.A857S	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	857					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAGGTAGCTGCCATATTATCA	0.527																																							uc002vaz.3		NA																	0				ovary(1)	1						c.(2569-2571)GCA>TCA		INO80 complex subunit D							136.0	130.0	132.0					2																	206869607		2097	4220	6317	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869607C>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2569G>T	2.37:g.206869607C>A	ENSP00000384198:p.Ala857Ser						p.A857S	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	2974	-			857					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2569G>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033807	0.35893	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.36520	1.25	5.91	5.91	0.95273	.	0.768327	0.12968	N	0.424372	T	0.22360	0.0539	N	0.08118	0	0.35742	D	0.818742	B	0.21753	0.06	B	0.24006	0.05	T	0.21999	-1.0229	10	0.16420	T	0.52	.	15.0617	0.71961	0.1418:0.8582:0.0:0.0	.	857	Q53TQ3-2	.	S	857	ENSP00000384198:A857S	ENSP00000233270:A857S	A	-	1	0	INO80D	206577852	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.928000	0.56506	2.793000	0.96121	0.655000	0.94253	GCA		0.527	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		63	165	1	0	4.45325e-31	0.00361	6.22566e-31	63	165				
ADAM23	8745	broad.mit.edu	37	2	207452876	207452876	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:207452876C>A	ENST00000264377.3	+	20	2178	c.1850C>A	c.(1849-1851)aCa>aAa	p.T617K	ADAM23_ENST00000374416.1_Missense_Mutation_p.T617K|ADAM23_ENST00000374415.3_Missense_Mutation_p.T617K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	617					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATCTGGGGAACAAGTAGGTCG	0.522																																					Melanoma(194;1127 2130 19620 24042 27855)	Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	0				skin(2)|ovary(1)	3						c.(1849-1851)ACA>AAA		ADAM metallopeptidase domain 23 preproprotein							158.0	123.0	135.0					2																	207452876		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207452876C>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1850C>A	2.37:g.207452876C>A	ENSP00000264377:p.Thr617Lys					ADAM23_uc010ziv.1_RNA	p.T617K	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	20	2073	+			617			Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1850C>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062881	0.36373	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20463	2.07;2.07;2.07	5.85	4.93	0.64822	ADAM, cysteine-rich (2);	0.204155	0.34435	N	0.003978	T	0.12561	0.0305	N	0.02225	-0.63	0.42717	D	0.993664	B	0.22346	0.068	B	0.32393	0.145	T	0.27938	-1.0059	10	0.35671	T	0.21	.	18.6046	0.91262	0.0:0.8735:0.1265:0.0	.	617	O75077	ADA23_HUMAN	K	617;617;511;617	ENSP00000264377:T617K;ENSP00000363537:T617K;ENSP00000363536:T617K	ENSP00000264377:T617K	T	+	2	0	ADAM23	207161121	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	3.936000	0.56568	2.767000	0.95098	0.655000	0.94253	ACA		0.522	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		43	85	1	0	7.63091e-17	0.007835	9.44229e-17	43	85				
FASTKD2	22868	broad.mit.edu	37	2	207652733	207652733	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:207652733G>C	ENST00000236980.6	+	9	2015	c.1667G>C	c.(1666-1668)aGg>aCg	p.R556T	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R556T|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R556T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	556					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTCTATCTGAGGGACATAGCC	0.453																																							uc002vbu.2		NA																	0				ovary(2)|skin(1)	3						c.(1666-1668)AGG>ACG		FAST kinase domains 2							82.0	80.0	81.0					2																	207652733		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207652733G>C	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1667G>C	2.37:g.207652733G>C	ENSP00000236980:p.Arg556Thr					FASTKD2_uc002vbv.2_Missense_Mutation_p.R556T|FASTKD2_uc002vbx.2_Missense_Mutation_p.R556T|FASTKD2_uc002vbw.1_Missense_Mutation_p.R556T	p.R556T	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	9	2077	+			556					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1667G>C	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	a	10.63	1.405296	0.25378	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.14266	2.52;2.52;2.52	5.44	-0.756	0.11057	FAST kinase-like protein, subdomain 2 (1);	4.479130	0.00166	N	0.000001	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.18561	0.0;0.022	T	0.23726	-1.0180	10	0.30854	T	0.27	-43.812	1.59	0.02652	0.462:0.1331:0.2767:0.1282	.	556;556	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	T	556	ENSP00000236980:R556T;ENSP00000385990:R556T;ENSP00000384929:R556T	ENSP00000236980:R556T	R	+	2	0	FASTKD2	207360978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.253000	0.18296	-0.595000	0.05828	-0.264000	0.10439	AGG		0.453	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		21	70	0	0	0	0.010504	0	21	70				
SPAG16	79582	broad.mit.edu	37	2	214794788	214794788	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:214794788G>T	ENST00000331683.5	+	12	1414	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	SPAG16_ENST00000374309.3_Missense_Mutation_p.W346L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	440					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGCGCAGTGTGGTCCTGCACA	0.428																																							uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(1318-1320)TGG>TTG		sperm associated antigen 16 isoform 1							111.0	110.0	111.0					2																	214794788		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794788G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1319G>T	2.37:g.214794788G>T	ENSP00000332592:p.Trp440Leu					SPAG16_uc010fuz.1_Missense_Mutation_p.W291L|SPAG16_uc002ver.2_Missense_Mutation_p.W386L|SPAG16_uc010zjk.1_Missense_Mutation_p.W346L	p.W440L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1411	+		Renal(323;0.00461)	440			WD 3.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1319G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793722	0.70452	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.59083	0.29;0.29	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.65260	0.2674	N	0.26162	0.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;0.975;1.0	D;D;P;D	0.91635	0.999;0.998;0.876;0.998	T	0.61773	-0.6994	10	0.28530	T	0.3	.	17.8902	0.88870	0.0:0.0:1.0:0.0	.	346;291;380;440	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	L	440;346	ENSP00000332592:W440L;ENSP00000363428:W346L	ENSP00000332592:W440L	W	+	2	0	SPAG16	214503033	1.000000	0.71417	0.996000	0.52242	0.522000	0.34438	6.056000	0.71111	2.550000	0.86006	0.655000	0.94253	TGG		0.428	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		76	59	1	0	4.09166e-32	0.00361	5.77785e-32	76	59				
TMEM169	92691	broad.mit.edu	37	2	216965125	216965125	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:216965125T>C	ENST00000295658.4	+	3	961	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	TMEM169_ENST00000406027.2_Missense_Mutation_p.F252L|TMEM169_ENST00000454545.1_Missense_Mutation_p.F252L|TMEM169_ENST00000437356.2_Missense_Mutation_p.F252L	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	252						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGAAAGGCTTCTGTGGCTG	0.572																																							uc010zjr.1		NA																	0				ovary(1)	1						c.(754-756)TTC>CTC		transmembrane protein 169							131.0	117.0	122.0					2																	216965125		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216965125T>C	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.754T>C	2.37:g.216965125T>C	ENSP00000295658:p.Phe252Leu					TMEM169_uc010zjs.1_Missense_Mutation_p.F252L|TMEM169_uc002vfw.2_Missense_Mutation_p.F252L|TMEM169_uc002vfv.3_Missense_Mutation_p.F252L	p.F252L	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1080	+		Renal(323;0.0651)	252			Extracellular (Potential).		B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.754T>C	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153907	0.94645	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.78945	-0.2004	8	.	.	.	-26.7358	14.2046	0.65725	0.0:0.0:0.0:1.0	.	252	Q96HH4	TM169_HUMAN	L	252	.	.	F	+	1	0	TMEM169	216673370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.852000	0.86927	2.135000	0.66039	0.533000	0.62120	TTC		0.572	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		79	233	0	0	0	0.00361	0	79	233				
SMARCAL1	50485	broad.mit.edu	37	2	217279574	217279574	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:217279574C>T	ENST00000357276.4	+	3	477	c.147C>T	c.(145-147)gcC>gcT	p.A49A	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.A49A	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	49					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATTCCAGGCCAAGCAAGGCC	0.512									Schimke Immuno-Osseous Dysplasia																														uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(145-147)GCC>GCT		SWI/SNF-related matrix-associated							113.0	127.0	122.0					2																	217279574		2203	4300	6503	SO:0001819	synonymous_variant	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279574C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.147C>T	2.37:g.217279574C>T						SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.A49A|SMARCAL1_uc010fvg.2_Silent_p.A49A	p.A49A	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	477	+		Renal(323;0.0458)	49					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	ENST00000357276.4	37	c.147C>T	CCDS2403.1																																																																																				0.512	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			168	165	0	0	0	0.00361	0	168	165				
TNS1	7145	broad.mit.edu	37	2	218686627	218686627	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:218686627T>G	ENST00000171887.4	-	23	3548	c.3096A>C	c.(3094-3096)acA>acC	p.T1032T	TNS1_ENST00000430930.1_Silent_p.T1011T|TNS1_ENST00000419504.1_Silent_p.T1019T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1032					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGCCACCGCTGTCCGTGCCA	0.637																																							uc002vgt.2		NA																	0				ovary(3)|breast(1)	4						c.(3094-3096)ACA>ACC		tensin							18.0	19.0	19.0					2																	218686627		2199	4294	6493	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218686627T>G	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3096A>C	2.37:g.218686627T>G						TNS1_uc002vgr.2_Silent_p.T1019T|TNS1_uc002vgs.2_Silent_p.T1011T|TNS1_uc010zjv.1_Silent_p.T1011T	p.T1032T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	23	3494	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1032					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.3096A>C	CCDS2407.1																																																																																				0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	5	0	0	0	0.004482	0	8	5				
SPEG	10290	broad.mit.edu	37	2	220355508	220355508	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:220355508G>T	ENST00000312358.7	+	38	9347	c.9215G>T	c.(9214-9216)gGc>gTc	p.G3072V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3072	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCTACAAGGCCTGGACTAC	0.597																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(9214-9216)GGC>GTC		SPEG complex locus							87.0	98.0	94.0					2																	220355508		2149	4248	6397	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355508G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9215G>T	2.37:g.220355508G>T	ENSP00000311684:p.Gly3072Val						p.G3072V	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	38	9215	+		Renal(207;0.0183)	3072			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.9215G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619548	0.46736	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.57595	0.39	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41500	D	0.000866	T	0.71082	0.3298	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75144	-0.3421	10	0.87932	D	0	.	17.3264	0.87249	0.0:0.0:1.0:0.0	.	3072	Q15772	SPEG_HUMAN	V	3072	ENSP00000311684:G3072V	ENSP00000265327:G3072V	G	+	2	0	SPEG	220063752	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.190000	0.72057	2.417000	0.82017	0.591000	0.81541	GGC		0.597	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		82	95	1	0	6.71967e-41	0.00361	9.93254e-41	82	95				
OBSL1	23363	broad.mit.edu	37	2	220423027	220423027	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:220423027C>A	ENST00000404537.1	-	10	3437	c.3381G>T	c.(3379-3381)ctG>ctT	p.L1127L	OBSL1_ENST00000603926.1_Silent_p.L1127L|OBSL1_ENST00000265317.5_Silent_p.L118L|OBSL1_ENST00000373876.1_Silent_p.L1127L|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1127	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACCCAGCTGCAGGGCATCTG	0.697																																							uc010fwk.2		NA																	0					0						c.(3379-3381)CTG>CTT		obscurin-like 1							25.0	29.0	28.0					2																	220423027		2045	4177	6222	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220423027C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3381G>T	2.37:g.220423027C>A						OBSL1_uc002vmh.1_Silent_p.L118L|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.1_Silent_p.L602L	p.L1127L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	10	3438	-		Renal(207;0.0376)	1127			Ig-like 9.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3381G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	3.674	-0.066896	0.07273	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.47	2.68	0.31781	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.21147	N	0.999773	.	.	.	.	.	.	T	0.20273	-1.0280	4	.	.	.	.	7.1077	0.25372	0.0:0.6999:0.1411:0.159	.	.	.	.	F	121	.	.	C	-	2	0	OBSL1	220131271	0.510000	0.26171	0.978000	0.43139	0.668000	0.39293	0.873000	0.28052	0.530000	0.28619	0.313000	0.20887	TGC		0.697	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			14	30	1	0	1.3612e-06	0.003163	1.46752e-06	14	30				
COL4A4	1286	broad.mit.edu	37	2	228004950	228004950	+	Missense_Mutation	SNP	C	C	A	rs370128179		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228004950C>A	ENST00000396625.3	-	4	326	c.119G>T	c.(118-120)gGa>gTa	p.G40V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G40V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	40	7S domain.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTATTTCTTTCCACTCTGGAA	0.413																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(118-120)GGA>GTA		alpha 4 type IV collagen precursor							97.0	94.0	95.0					2																	228004950		1911	4127	6038	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228004950C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.119G>T	2.37:g.228004950C>A	ENSP00000379866:p.Gly40Val						p.G40V	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	4	773	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	40			7S domain.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.119G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129302	0.56721	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.89810	-2.57;-2.53	5.91	5.02	0.67125	.	.	.	.	.	T	0.80778	0.4688	N	0.03608	-0.345	0.80722	D	1	D	0.59767	0.986	P	0.54060	0.741	T	0.77048	-0.2732	9	0.14656	T	0.56	.	11.3625	0.49651	0.0:0.9153:0.0:0.0847	.	40	P53420	CO4A4_HUMAN	V	40	ENSP00000379866:G40V;ENSP00000328553:G40V	ENSP00000328553:G40V	G	-	2	0	COL4A4	227713194	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.890000	0.28295	2.793000	0.96121	0.655000	0.94253	GGA		0.413	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		26	107	1	0	4.7796e-09	0.004656	5.29866e-09	26	107				
COL4A3	1285	broad.mit.edu	37	2	228137787	228137787	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228137787G>C	ENST00000396578.3	+	26	2043	c.1881G>C	c.(1879-1881)caG>caC	p.Q627H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	627	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGTCTCCAGGGCACGCAAG	0.617																																							uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(1879-1881)CAG>CAC		alpha 3 type IV collagen isoform 1 precursor							44.0	50.0	48.0					2																	228137787		1841	4090	5931	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228137787G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1881G>C	2.37:g.228137787G>C	ENSP00000379823:p.Gln627His					COL4A3_uc002von.1_Missense_Mutation_p.Q627H|COL4A3_uc002voo.1_Missense_Mutation_p.Q627H|COL4A3_uc002vop.1_Missense_Mutation_p.Q627H|uc002voq.1_Intron|uc002vor.1_Intron	p.Q627H	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	26	2043	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	627			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1881G>C	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952143	0.34471	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93547	-3.24	5.59	3.79	0.43588	.	0.201299	0.34200	N	0.004161	D	0.90205	0.6938	L	0.41632	1.29	0.30112	N	0.806506	B;B;B;B	0.26041	0.115;0.115;0.115;0.14	B;B;B;B	0.38264	0.176;0.176;0.176;0.269	D	0.84336	0.0524	10	0.35671	T	0.21	.	7.6606	0.28400	0.2595:0.0:0.7405:0.0	.	627;627;627;627	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	H	627	ENSP00000379823:Q627H	ENSP00000323334:Q627H	Q	+	3	2	COL4A3	227846031	1.000000	0.71417	0.997000	0.53966	0.460000	0.32559	1.968000	0.40500	0.712000	0.32039	0.557000	0.71058	CAG		0.617	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		33	129	0	0	0	0.003755	0	33	129				
TM4SF20	79853	broad.mit.edu	37	2	228228599	228228599	+	Silent	SNP	G	G	A	rs370110647		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228228599G>A	ENST00000304568.3	-	4	568	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTTCAGAATCGAAGTGGAAAC	0.438																																							uc002vpb.2		NA																	0					0						c.(529-531)TTC>TTT		transmembrane 4 L six family member 20							111.0	107.0	108.0					2																	228228599		2203	4300	6503	SO:0001819	synonymous_variant	79853					integral to membrane|plasma membrane		g.chr2:228228599G>A	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.531C>T	2.37:g.228228599G>A							p.F177F	NM_024795	NP_079071	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	4	569	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	177			Extracellular (Potential).		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	ENST00000304568.3	37	c.531C>T	CCDS2466.1																																																																																				0.438	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		7	174	0	0	0	0.00308	0	7	174				
SPHKAP	80309	broad.mit.edu	37	2	228881688	228881688	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228881688C>G	ENST00000392056.3	-	7	3928	c.3882G>C	c.(3880-3882)cgG>cgC	p.R1294R	SPHKAP_ENST00000344657.5_Silent_p.R1294R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1294						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCCACCTCTCCGATACAAGC	0.498																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(3880-3882)CGG>CGC		sphingosine kinase type 1-interacting protein							96.0	91.0	92.0					2																	228881688		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881688C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3882G>C	2.37:g.228881688C>G						SPHKAP_uc002vpp.2_Silent_p.R1294R|SPHKAP_uc010zlx.1_Silent_p.R1294R	p.R1294R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3929	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1294					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3882G>C	CCDS46537.1																																																																																				0.498	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	165	0	0	0	0.000602	0	4	165				
SP110	3431	broad.mit.edu	37	2	231067329	231067329	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:231067329C>T	ENST00000358662.4	-	9	1092	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	SP110_ENST00000258381.6_Silent_p.A338A|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000258382.5_Silent_p.A338A|SP110_ENST00000338556.3_Intron|SP110_ENST00000392048.3_Silent_p.A336A|SP110_ENST00000540870.1_Silent_p.A344A	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	338					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATTCAGTTCTCGCCTTTTGGG	0.493																																							uc002vqh.3		NA																	0				ovary(2)|breast(2)	4						c.(1012-1014)GCG>GCA		SP110 nuclear body protein isoform a							182.0	152.0	162.0					2																	231067329		2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231067329C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1014G>A	2.37:g.231067329C>T						SP110_uc002vqg.3_Silent_p.A338A|SP110_uc002vqi.3_Silent_p.A338A|SP110_uc010fxk.2_Silent_p.A336A|SP110_uc010fxj.2_Intron	p.A338A	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	9	1254	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	338					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.1014G>A	CCDS2474.1																																																																																				0.493	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		34	112	0	0	0	0.012213	0	34	112				
USP40	55230	broad.mit.edu	37	2	234421213	234421213	+	Splice_Site	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:234421213A>G	ENST00000427112.2	-	18	2470		c.e18+1		USP40_ENST00000450966.1_Splice_Site|USP40_ENST00000251722.6_Splice_Site|USP40_ENST00000409945.1_5'Flank			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAAAAGATTTACCTGGACAAA	0.318																																							uc010zmr.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.e18+1		ubiquitin thioesterase 40							42.0	42.0	42.0					2																	234421213		1801	4069	5870	SO:0001630	splice_region_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234421213A>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2434+1T>C	2.37:g.234421213A>G						USP40_uc002vun.2_5'Flank|USP40_uc002vuo.1_5'Flank|USP40_uc010zmt.1_Splice_Site_p.V468_splice	p.V824_splice	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	18	2470	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)						Q6NX38|Q70EL0	Splice_Site	SNP	ENST00000427112.2	37	c.2470_splice	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804670	0.50315	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4821	0.61342	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP40	234085952	1.000000	0.71417	0.950000	0.38849	0.691000	0.40173	5.054000	0.64275	2.238000	0.73509	0.477000	0.44152	.		0.318	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	Intron	13	23	0	0	0	0.003163	0	13	23				
IQCA1	79781	broad.mit.edu	37	2	237374189	237374189	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:237374189C>A	ENST00000409907.3	-	6	1159	c.885G>T	c.(883-885)gaG>gaT	p.E295D	IQCA1_ENST00000309507.5_Missense_Mutation_p.E291D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E295D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	295							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTTGAAGGTTCTCCTTGATAT	0.458																																							uc002vvz.1		NA																	0				ovary(1)	1						c.(883-885)GAG>GAT		IQ motif containing with AAA domain 1							161.0	153.0	156.0					2																	237374189		1997	4164	6161	SO:0001583	missense	79781						ATP binding	g.chr2:237374189C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.885G>T	2.37:g.237374189C>A	ENSP00000387347:p.Glu295Asp					IQCA1_uc002vwb.2_Missense_Mutation_p.E302D|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.E295D	p.E295D	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			6	1067	-			295					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.885G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.84|14.84	2.654518|2.654518	0.47467|0.47467	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.96200|.	-3.64;-3.64;-3.94|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.102256|0.102256	0.43416|0.43416	D|D	0.000572|0.000572	T|.	0.67748|.	0.2926|.	M|M	0.79926|0.79926	2.475|2.475	0.36075|0.36075	D|D	0.842361|0.842361	P;B;P|.	0.46621|.	0.598;0.443;0.881|.	P;B;P|.	0.44518|.	0.452;0.325;0.452|.	T|.	0.76721|.	-0.2855|.	10|.	0.54805|0.59425	T|D	0.06|0.04	.|.	6.6398|6.6398	0.22903|0.22903	0.151:0.7047:0.0:0.1444|0.151:0.7047:0.0:0.1444	.|.	295;302;295|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	D|X	295;302;291;295;291|314	ENSP00000387347:E295D;ENSP00000311951:E291D;ENSP00000407213:E295D|.	ENSP00000254653:E295D|ENSP00000390964:E314X	E|E	-|-	3|1	2|0	IQCA1|IQCA1	237038928|237038928	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.060000|0.060000	0.15804|0.15804	1.198000|1.198000	0.32223|0.32223	2.551000|2.551000	0.86045|0.86045	0.563000|0.563000	0.77884|0.77884	GAG|GAA		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		48	58	1	0	1.83081e-24	0.00361	2.45443e-24	48	58				
COL6A3	1293	broad.mit.edu	37	2	238266025	238266025	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:238266025C>T	ENST00000295550.4	-	23	6999	c.6547G>A	c.(6547-6549)Ggg>Agg	p.G2183R	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1977R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1576R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1983R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1977R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1982R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2183	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCTCTCCCTGGGACACCC	0.498																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6547-6549)GGG>AGG		alpha 3 type VI collagen isoform 1 precursor							204.0	202.0	203.0					2																	238266025		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266025C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6547G>A	2.37:g.238266025C>T	ENSP00000295550:p.Gly2183Arg					COL6A3_uc002vwo.2_Missense_Mutation_p.G1977R|COL6A3_uc010znj.1_Missense_Mutation_p.G1576R|COL6A3_uc002vwp.1_5'Flank	p.G2183R	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	23	6832	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2183			Triple-helical region.|Collagen-like 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6547G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407595	0.42715	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-4.63;-5.77;-4.63;-4.63;-4.63;-5.77	5.04	5.04	0.67666	.	0.000000	0.49305	D	0.000147	D	0.99725	0.9893	H	0.99182	4.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96939	0.9686	10	0.87932	D	0	.	17.1902	0.86877	0.0:1.0:0.0:0.0	.	1576;1977;2183	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2183;1982;1977;1576;1977;1983	ENSP00000295550:G2183R;ENSP00000315609:G1982R;ENSP00000315873:G1977R;ENSP00000418285:G1576R;ENSP00000386844:G1977R;ENSP00000295546:G1983R	ENSP00000295550:G2183R	G	-	1	0	COL6A3	237930764	1.000000	0.71417	0.993000	0.49108	0.815000	0.46073	4.740000	0.62087	2.350000	0.79820	0.591000	0.81541	GGG		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		253	235	0	0	0	0.00361	0	253	235				
PDYN	5173	broad.mit.edu	37	20	1961233	1961233	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:1961233G>T	ENST00000217305.2	-	4	726	c.501C>A	c.(499-501)gaC>gaA	p.D167E	PDYN_ENST00000540134.1_Missense_Mutation_p.D167E|PDYN_ENST00000539905.1_Missense_Mutation_p.D167E|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	167					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTCCTTGGGGTCCTCCTCAG	0.597																																							uc010gaj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(499-501)GAC>GAA		beta-neoendorphin-dynorphin preproprotein							110.0	108.0	108.0					20																	1961233		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961233G>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.501C>A	20.37:g.1961233G>T	ENSP00000217305:p.Asp167Glu					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.D167E|PDYN_uc010zpt.1_Missense_Mutation_p.D12E	p.D167E	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	743	-			167					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.501C>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	5.607	0.296737	0.10622	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80909	-1.43;-1.43;-1.43	4.7	0.0709	0.14380	.	0.966306	0.08607	N	0.920595	T	0.60958	0.2309	N	0.17474	0.49	0.22629	N	0.998914	B	0.10296	0.003	B	0.09377	0.004	T	0.44128	-0.9348	10	0.02654	T	1	-9.7718	8.898	0.35476	0.0:0.1357:0.4455:0.4188	.	167	P01213	PDYN_HUMAN	E	167	ENSP00000440185:D167E;ENSP00000442259:D167E;ENSP00000217305:D167E	ENSP00000217305:D167E	D	-	3	2	PDYN	1909233	0.000000	0.05858	0.969000	0.41365	0.899000	0.52679	-0.026000	0.12392	0.189000	0.20188	0.313000	0.20887	GAC		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			40	105	1	0	4.57556e-38	0.013114	6.67269e-38	40	105				
PRND	23627	broad.mit.edu	37	20	4705236	4705236	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:4705236C>G	ENST00000305817.2	+	2	110	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	13					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TGGCCACTGTCTGCATGCTGC	0.632																																							uc002wkz.2		NA																	0					0						c.(37-39)GTC>GTG		prion-like protein doppel preproprotein							63.0	57.0	59.0					20																	4705236		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705236C>G	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.39C>G	20.37:g.4705236C>G							p.V13V	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	110	+			13					A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.39C>G	CCDS13081.1																																																																																				0.632	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		9	132	0	0	0	0.010729	0	9	132				
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632																																							uc002wkz.2		NA																	0					0						c.(49-51)CTC>CTG		prion-like protein doppel preproprotein							62.0	57.0	58.0					20																	4705248		2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705248C>G	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.51C>G	20.37:g.4705248C>G							p.L17L	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	122	+			17					A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.51C>G	CCDS13081.1																																																																																				0.632	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		8	128	0	0	0	0.008291	0	8	128				
MKKS	8195	broad.mit.edu	37	20	10386212	10386212	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:10386212C>A	ENST00000347364.3	-	6	2158	c.1396G>T	c.(1396-1398)Ggt>Tgt	p.G466C	MKKS_ENST00000399054.2_Missense_Mutation_p.G466C	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	466					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGAATTTCACCTCCATCATGT	0.423																																					Melanoma(79;1979 2212 6640)	Melanoma(79;1979 2212 6640)	uc002wnt.1		NA																	0					0						c.(1396-1398)GGT>TGT		McKusick-Kaufman syndrome protein							107.0	92.0	97.0					20																	10386212		2203	4300	6503	SO:0001583	missense	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10386212C>A	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1396G>T	20.37:g.10386212C>A	ENSP00000246062:p.Gly466Cys					MKKS_uc002wnu.1_Missense_Mutation_p.G466C|MKKS_uc010zrd.1_RNA	p.G466C	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			6	2283	-			466					A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	c.1396G>T	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440238	0.83993	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.79033	-1.23;-1.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.77616	2.38	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89034	0.3444	10	0.87932	D	0	-26.8172	20.6593	0.99626	0.0:1.0:0.0:0.0	.	466	Q9NPJ1	MKKS_HUMAN	C	466	ENSP00000246062:G466C;ENSP00000382008:G466C	ENSP00000246062:G466C	G	-	1	0	MKKS	10334212	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.220000	0.65267	2.885000	0.99019	0.655000	0.94253	GGT		0.423	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			28	52	1	0	4.7796e-09	0.004656	5.29866e-09	28	52				
CFAP61	26074	broad.mit.edu	37	20	20144808	20144808	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:20144808T>C	ENST00000245957.5	+	11	1217	c.1141T>C	c.(1141-1143)Tac>Cac	p.Y381H	C20orf26_ENST00000451767.2_Missense_Mutation_p.Y381H|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y381H|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		381										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGCCCCATCTACAGGGGAGC	0.507																																							uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1141-1143)TAC>CAC		hypothetical protein LOC26074							119.0	117.0	118.0					20																	20144808		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20144808T>C																												ENST00000245957.5:c.1141T>C	20.37:g.20144808T>C	ENSP00000245957:p.Tyr381His					C20orf26_uc010gcw.1_Missense_Mutation_p.Y335H|C20orf26_uc010zse.1_Missense_Mutation_p.Y381H|C20orf26_uc010zsf.1_Missense_Mutation_p.Y381H	p.Y381H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	11	1217	+			381					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1141T>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	34	5.346077	0.95807	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.52295	0.67;0.67;0.67	5.47	5.47	0.80525	.	0.288221	0.29676	N	0.011494	T	0.65176	0.2666	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.994;0.994;0.997	T	0.66544	-0.5897	10	0.54805	T	0.06	.	13.3685	0.60698	0.0:0.0:0.0:1.0	.	381;381;336;381	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	336;381;381;381;381	ENSP00000245957:Y381H;ENSP00000366521:Y381H;ENSP00000414537:Y381H	ENSP00000245957:Y381H	Y	+	1	0	C20orf26	20092808	1.000000	0.71417	0.640000	0.29408	0.992000	0.81027	4.860000	0.62961	2.197000	0.70478	0.533000	0.62120	TAC		0.507	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			29	103	0	0	0	0.008361	0	29	103				
NKX2-2	4821	broad.mit.edu	37	20	21492565	21492565	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:21492565C>G	ENST00000377142.4	-	2	1174	c.818G>C	c.(817-819)tGg>tCg	p.W273S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	273					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGGCGCTCACCAAGTCCACTG	0.677																																							uc002wsi.2		NA																	0				pancreas(1)|skin(1)	2						c.(817-819)TGG>TCG		NK2 transcription factor related, locus 2							21.0	25.0	24.0					20																	21492565		2125	4210	6335	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492565C>G	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.818G>C	20.37:g.21492565C>G	ENSP00000366347:p.Trp273Ser						p.W273S	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	1175	-			273						Missense_Mutation	SNP	ENST00000377142.4	37	c.818G>C	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349444	0.82132	.	.	ENSG00000125820	ENST00000377142	D	0.92858	-3.12	5.66	5.66	0.87406	.	0.118171	0.64402	D	0.000008	D	0.93638	0.7968	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.94468	0.7682	10	0.87932	D	0	.	19.7366	0.96208	0.0:1.0:0.0:0.0	.	273	O95096	NKX22_HUMAN	S	273	ENSP00000366347:W273S	ENSP00000366347:W273S	W	-	2	0	NKX2-2	21440565	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.919000	0.63383	2.667000	0.90743	0.462000	0.41574	TGG		0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			22	77	0	0	0	0.002299	0	22	77				
BPIFA1	51297	broad.mit.edu	37	20	31825632	31825632	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:31825632G>T	ENST00000354297.4	+	2	186	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	BPIFA1_ENST00000375422.2_Missense_Mutation_p.A39S|BPIFA1_ENST00000375413.4_Missense_Mutation_p.A39S	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	39					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGTGAATCCAGCCCTGCCCTT	0.567																																							uc002wyv.2		NA																	0					0						c.(115-117)GCC>TCC		palate, lung and nasal epithelium associated							94.0	88.0	90.0					20																	31825632		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825632G>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.115G>T	20.37:g.31825632G>T	ENSP00000346251:p.Ala39Ser					PLUNC_uc002wyt.3_Missense_Mutation_p.A39S|PLUNC_uc002wyu.3_Missense_Mutation_p.A39S	p.A39S	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			2	185	+			39					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.115G>T	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251396	0.22880	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.12255	2.7;2.7;2.7	4.81	0.475	0.16774	.	0.500985	0.18460	N	0.140550	T	0.10637	0.0260	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31861	-0.9928	10	0.23891	T	0.37	-2.1643	7.9397	0.29950	0.0:0.2911:0.4088:0.3002	.	39	Q9NP55	BPIA1_HUMAN	S	39;39;39;25	ENSP00000364571:A39S;ENSP00000346251:A39S;ENSP00000364562:A39S	ENSP00000346251:A39S	A	+	1	0	BPIFA1	31289293	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.342000	0.07801	0.049000	0.15920	-0.218000	0.12543	GCC		0.567	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		91	71	1	0	5.01286e-43	0.00361	7.50015e-43	91	71				
AHCY	191	broad.mit.edu	37	20	32879309	32879309	+	Silent	SNP	C	C	A	rs200713604		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:32879309C>A	ENST00000217426.2	-	5	551	c.474G>T	c.(472-474)acG>acT	p.T158T	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Silent_p.T130T	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	158					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGACCCCAGTCGTGGTCTCCT	0.547																																							uc002xai.2		NA																	0					0						c.(472-474)ACG>ACT		adenosylhomocysteinase isoform 1							141.0	123.0	129.0					20																	32879309		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879309C>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.474G>T	20.37:g.32879309C>A						AHCY_uc002xaj.2_Silent_p.T130T	p.T158T	NM_000687	NP_000678	P23526	SAHH_HUMAN			5	613	-			158			NAD.		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.474G>T	CCDS13233.1																																																																																				0.547	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		94	98	1	0	1.63847e-34	0.00361	2.35439e-34	94	98				
MYH7B	57644	broad.mit.edu	37	20	33578868	33578868	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:33578868C>A	ENST00000262873.7	+	22	2345	c.2253C>A	c.(2251-2253)atC>atA	p.I751I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	709	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGGGGATCCGGATCTGCC	0.632																																							uc002xbi.1		NA																	0				ovary(1)|breast(1)	2						c.(2251-2253)ATC>ATA		myosin, heavy polypeptide 7B, cardiac muscle,							73.0	81.0	78.0					20																	33578868		2130	4269	6399	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578868C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2253C>A	20.37:g.33578868C>A							p.I751I	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		22	2345	+			709			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.2253C>A	CCDS42869.1																																																																																				0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		73	86	1	0	8.07507e-42	0.00361	1.20084e-41	73	86				
BPI	671	broad.mit.edu	37	20	36965553	36965553	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:36965553C>T	ENST00000262865.4	+	15	1520	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F		NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	477					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTAGAACTTCCTGCTGTTCG	0.542																																							uc002xib.2		NA																	0				ovary(4)	4						c.(1429-1431)TTC>TTT		bactericidal/permeability-increasing protein							140.0	126.0	131.0					20																	36965553		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36965553C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1431C>T	20.37:g.36965553C>T							p.F477F	NM_001725	NP_001716	P17213	BPI_HUMAN			15	1493	+		Myeloproliferative disorder(115;0.00878)	477					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.1431C>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	6.631	0.484954	0.12641	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	T	0.63908	0.2551	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61148	-0.7121	4	.	.	.	-22.21	12.4863	0.55874	0.0:1.0:0.0:0.0	.	.	.	.	F	303	.	.	S	+	2	0	BPI	36398967	1.000000	0.71417	0.997000	0.53966	0.103000	0.19146	2.906000	0.48735	2.653000	0.90120	0.655000	0.94253	TCC		0.542	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		92	234	0	0	0	0.00361	0	92	234				
PTPRT	11122	broad.mit.edu	37	20	40714455	40714455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:40714455G>T	ENST00000373187.1	-	28	3884	c.3885C>A	c.(3883-3885)tgC>tgA	p.C1295*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.C1298*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.C1285*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.C1314*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.C1305*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.C1294*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.C1304*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1295	Tyrosine-protein phosphatase 2. {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)				TGGGCCCATAGCACCCGGAGG	0.542																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(3883-3885)TGC>TGA		protein tyrosine phosphatase, receptor type, T							77.0	79.0	78.0					20																	40714455		1947	4141	6088	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.chr20:40714455G>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.3885C>A	20.37:g.40714455G>T	ENSP00000362283:p.Cys1295*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.C1314*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.C498*	p.C1295*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			28	4069	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1295			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.3885C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	43	10.097438	0.99336	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.31	3.22	0.36961	.	0.050408	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	6.7563	0.23516	0.3783:0.0:0.6217:0.0	.	.	.	.	X	1294;1295;1298;1304;1317;1305;1285	.	ENSP00000348408:C1304X	C	-	3	2	PTPRT	40147869	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.135000	0.31454	1.447000	0.47661	0.655000	0.94253	TGC		0.542	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			131	76	1	0	3.41043e-57	0.00361	5.2304e-57	131	76				
PTPRT	11122	broad.mit.edu	37	20	40770587	40770587	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:40770587C>A	ENST00000373187.1	-	18	2737	c.2738G>T	c.(2737-2739)cGc>cTc	p.R913L	PTPRT_ENST00000373193.3_Missense_Mutation_p.R916L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R903L|PTPRT_ENST00000373198.4_Missense_Mutation_p.R932L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R903L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R912L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R922L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	913	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)				ATTCTTATTGCGGTTTTCATC	0.502																																							uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(2737-2739)CGC>CTC		protein tyrosine phosphatase, receptor type, T							248.0	242.0	244.0					20																	40770587		1935	4137	6072	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40770587C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2738G>T	20.37:g.40770587C>A	ENSP00000362283:p.Arg913Leu					PTPRT_uc010ggj.2_Missense_Mutation_p.R932L|PTPRT_uc010ggi.2_Missense_Mutation_p.R116L	p.R913L	NM_007050	NP_008981	O14522	PTPRT_HUMAN			18	2922	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	913			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2738G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448258	0.63178	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.054034	0.85682	D	0.000000	T	0.32315	0.0825	L	0.49455	1.56	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.15870	0.008;0.014	T	0.04621	-1.0938	10	0.39692	T	0.17	.	18.05	0.89344	0.0:1.0:0.0:0.0	.	935;913	O14522-1;O14522	.;PTPRT_HUMAN	L	912;913;916;922;935;903;903	ENSP00000362286:R912L;ENSP00000362283:R913L;ENSP00000362289:R916L;ENSP00000348408:R922L;ENSP00000362294:R935L;ENSP00000362280:R903L;ENSP00000362297:R903L	ENSP00000348408:R922L	R	-	2	0	PTPRT	40204001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	2.613000	0.88420	0.650000	0.86243	CGC		0.502	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			86	388	1	0	2.61895e-37	0.00361	3.7967e-37	86	388				
L3MBTL1	26013	broad.mit.edu	37	20	42164887	42164887	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:42164887G>A	ENST00000427442.2	+	18	2169	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	L3MBTL1_ENST00000373135.3_Silent_p.K602K|L3MBTL1_ENST00000373134.1_Silent_p.K607K|L3MBTL1_ENST00000444063.1_Silent_p.K602K|L3MBTL1_ENST00000418998.1_Silent_p.K670K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	602					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCGCAAGAAGAACCTCTCAG	0.637																																							uc010zwh.1		NA																	0					0						c.(2008-2010)AAG>AAA		l(3)mbt-like isoform I							13.0	15.0	14.0					20																	42164887		2202	4299	6501	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42164887G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2010G>A	20.37:g.42164887G>A						L3MBTL_uc002xkl.2_Silent_p.K602K|L3MBTL_uc002xkm.2_Silent_p.K602K|L3MBTL_uc010ggl.2_Silent_p.K607K|L3MBTL_uc002xkn.1_Silent_p.K361K|L3MBTL_uc002xko.2_Silent_p.K254K	p.K670K	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		18	2056	+		Myeloproliferative disorder(115;0.00452)	602					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.2010G>A	CCDS46602.2																																																																																				0.637	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		6	24	0	0	0	0.001168	0	6	24				
ZNF334	55713	broad.mit.edu	37	20	45130263	45130263	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:45130263T>C	ENST00000347606.4	-	5	1897	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	ZNF334_ENST00000457685.2_Missense_Mutation_p.Y534C|ZNF334_ENST00000593880.1_Missense_Mutation_p.Y595C	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTACACTCATAGGGTCTCTG	0.443																																							uc002xsc.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1714-1716)TAT>TGT		zinc finger protein 334 isoform a							133.0	128.0	130.0					20																	45130263		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130263T>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1715A>G	20.37:g.45130263T>C	ENSP00000255129:p.Tyr572Cys					ZNF334_uc002xsa.2_Missense_Mutation_p.Y595C|ZNF334_uc002xsb.2_Missense_Mutation_p.Y534C|ZNF334_uc002xsd.2_Missense_Mutation_p.Y534C|ZNF334_uc010ghl.2_Missense_Mutation_p.Y571C	p.Y572C	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			5	1899	-		Myeloproliferative disorder(115;0.0122)	572			C2H2-type 11.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1715A>G	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	8.167	0.790896	0.16258	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.25414	1.8;1.8	2.88	0.19	0.15125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47451	0.1446	M	0.87269	2.87	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.64144	0.922;0.889;0.922	T	0.26395	-1.0104	9	0.72032	D	0.01	.	6.1222	0.20159	0.583:0.0:0.0:0.417	.	534;572;595	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	C	534;572	ENSP00000402582:Y534C;ENSP00000255129:Y572C	ENSP00000255129:Y572C	Y	-	2	0	ZNF334	44563670	0.000000	0.05858	0.005000	0.12908	0.149000	0.21700	-0.013000	0.12678	0.310000	0.22990	0.402000	0.26972	TAT		0.443	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			124	123	0	0	0	0.00361	0	124	123				
PREX1	57580	broad.mit.edu	37	20	47351100	47351100	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:47351100C>A	ENST00000371941.3	-	4	524	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	PREX1_ENST00000396220.1_Missense_Mutation_p.V168L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	168	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGCGCGCACGGTAGGGATC	0.557																																							uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(502-504)GTG>TTG		phosphatidylinositol-3,4,							209.0	172.0	184.0					20																	47351100		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47351100C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.502G>T	20.37:g.47351100C>A	ENSP00000361009:p.Val168Leu						p.V168L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		4	525	-			168			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.502G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351027	0.61183	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62639	0.01;0.01	5.5	4.36	0.52297	Dbl homology (DH) domain (5);	0.294129	0.22630	U	0.057598	T	0.50548	0.1622	N	0.17082	0.46	0.44006	D	0.996716	B	0.21225	0.053	B	0.31812	0.136	T	0.50866	-0.8777	10	0.46703	T	0.11	.	14.9028	0.70692	0.0:0.918:0.0:0.082	.	168	Q8TCU6	PREX1_HUMAN	L	168	ENSP00000361009:V168L;ENSP00000379522:V168L	ENSP00000361009:V168L	V	-	1	0	PREX1	46784507	0.969000	0.33509	0.726000	0.30738	0.906000	0.53458	2.343000	0.44001	2.584000	0.87258	0.650000	0.86243	GTG		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		127	161	1	0	2.27795e-59	0.00361	3.49904e-59	127	161				
SNAI1	6615	broad.mit.edu	37	20	48600685	48600685	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:48600685C>T	ENST00000244050.2	+	2	468	c.407C>T	c.(406-408)cCc>cTc	p.P136L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	136	Required for FBXL14-triggered degradation.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGCCAAGTGCCCAAGCAGCTG	0.602																																							uc002xuz.2		NA																	0				ovary(1)	1						c.(406-408)CCC>CTC		snail 1 homolog							40.0	46.0	44.0					20																	48600685		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600685C>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.407C>T	20.37:g.48600685C>T	ENSP00000244050:p.Pro136Leu						p.P136L	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	477	+			136			Required for FBXL14-triggered degradation.		B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.407C>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880561	0.51801	.	.	ENSG00000124216	ENST00000244050	T	0.11385	2.78	4.86	4.86	0.63082	.	0.157712	0.56097	D	0.000025	T	0.08802	0.0218	N	0.24115	0.695	0.58432	D	0.999998	P	0.48764	0.915	P	0.45343	0.477	T	0.35276	-0.9795	10	0.14656	T	0.56	-50.1031	11.7354	0.51763	0.301:0.699:0.0:0.0	.	136	O95863	SNAI1_HUMAN	L	136	ENSP00000244050:P136L	ENSP00000244050:P136L	P	+	2	0	SNAI1	48034092	1.000000	0.71417	0.984000	0.44739	0.821000	0.46438	4.235000	0.58666	2.398000	0.81561	0.557000	0.71058	CCC		0.602	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			34	134	0	0	0	0.002836	0	34	134				
FAM65C	140876	broad.mit.edu	37	20	49225195	49225195	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:49225195C>G	ENST00000327979.2	-	10	1164	c.753G>C	c.(751-753)gaG>gaC	p.E251D	FAM65C_ENST00000045083.2_Missense_Mutation_p.E251D|FAM65C_ENST00000535356.1_Missense_Mutation_p.E255D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	251										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCCTTCTCCTCTTCGTCCC	0.642																																							uc002xvm.2		NA																	0				ovary(2)	2						c.(751-753)GAG>GAC		hypothetical protein LOC140876							147.0	128.0	135.0					20																	49225195		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49225195C>G	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.753G>C	20.37:g.49225195C>G	ENSP00000332663:p.Glu251Asp					FAM65C_uc010zyt.1_Missense_Mutation_p.E255D|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.E251D	p.E251D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			10	1071	-			251					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.753G>C	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739069	0.49045	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.03004	4.08;4.08;4.08	5.08	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.11922	0.0290	M	0.64170	1.965	0.53688	D	0.99997	D;D	0.89917	0.997;1.0	D;D	0.87578	0.979;0.998	T	0.00975	-1.1494	10	0.66056	D	0.02	-30.0446	6.6509	0.22961	0.0:0.6388:0.0:0.3612	.	255;251	F5H0X2;Q96MK2	.;FA65C_HUMAN	D	251;251;255	ENSP00000332663:E251D;ENSP00000045083:E251D;ENSP00000439802:E255D	ENSP00000045083:E251D	E	-	3	2	FAM65C	48658602	0.968000	0.33430	1.000000	0.80357	0.281000	0.26958	0.095000	0.15127	1.149000	0.42402	0.561000	0.74099	GAG		0.642	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			60	231	0	0	0	0.00361	0	60	231				
NFATC2	4773	broad.mit.edu	37	20	50007939	50007939	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:50007939C>A	ENST00000396009.3	-	10	2991	c.2772G>T	c.(2770-2772)caG>caT	p.Q924H	NFATC2_ENST00000609507.1_3'UTR|NFATC2_ENST00000609943.1_Missense_Mutation_p.Q904H|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000414705.1_3'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	924					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTTTTACGTCTGATTTCTGG	0.493																																							uc002xwd.2		NA																	0				ovary(2)	2						c.(2770-2772)CAG>CAT		nuclear factor of activated T-cells,							171.0	173.0	172.0					20																	50007939		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007939C>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2772G>T	20.37:g.50007939C>A	ENSP00000379330:p.Gln924His					NFATC2_uc002xwc.2_3'UTR|NFATC2_uc010zyv.1_3'UTR|NFATC2_uc010zyw.1_Missense_Mutation_p.Q705H|NFATC2_uc010zyx.1_3'UTR|NFATC2_uc010zyy.1_3'UTR|NFATC2_uc010zyz.1_Missense_Mutation_p.Q705H|NFATC2_uc002xwe.2_Missense_Mutation_p.Q904H	p.Q924H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			10	2992	-	Hepatocellular(150;0.248)		924					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2772G>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839053	0.51057	.	.	ENSG00000101096	ENST00000396009	T	0.16073	2.37	5.61	4.67	0.58626	.	0.238608	0.35096	N	0.003460	T	0.26085	0.0636	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.99;0.996	D;D	0.75484	0.979;0.986	T	0.03619	-1.1019	10	0.87932	D	0	-6.2293	10.6823	0.45821	0.0:0.8548:0.0:0.1452	.	904;924	B5B2P2;Q13469	.;NFAC2_HUMAN	H	924	ENSP00000379330:Q924H	ENSP00000379330:Q924H	Q	-	3	2	NFATC2	49441346	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.342000	0.33919	1.360000	0.45960	0.655000	0.94253	CAG		0.493	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		32	200	1	0	2.20262e-25	0.002836	2.97734e-25	32	200				
TSHZ2	128553	broad.mit.edu	37	20	51870957	51870957	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:51870957T>A	ENST00000371497.5	+	2	1847	c.960T>A	c.(958-960)gcT>gcA	p.A320A	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.A317A|TSHZ2_ENST00000603338.2_Silent_p.A317A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	320					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCCCGGCTAAGAAACGCG	0.448																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(958-960)GCT>GCA		teashirt zinc finger homeobox 2							74.0	81.0	78.0					20																	51870957		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870957T>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.960T>A	20.37:g.51870957T>A							p.A320A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1916	+			320					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.960T>A	CCDS33490.1																																																																																				0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		46	185	0	0	0	0.00361	0	46	185				
TSHZ2	128553	broad.mit.edu	37	20	51872151	51872151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:51872151C>A	ENST00000371497.5	+	2	3041	c.2154C>A	c.(2152-2154)tgC>tgA	p.C718*	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.C715*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.C715*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACCTTCCTGCTCCAGCCCAA	0.582																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2152-2154)TGC>TGA		teashirt zinc finger homeobox 2							71.0	67.0	68.0					20																	51872151		2203	4300	6503	SO:0001587	stop_gained	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872151C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2154C>A	20.37:g.51872151C>A	ENSP00000360552:p.Cys718*						p.C718*	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3110	+			718					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Nonsense_Mutation	SNP	ENST00000371497.5	37	c.2154C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	46	12.357906	0.99660	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	.	.	.	5.72	-0.131	0.13494	.	0.523762	0.20687	N	0.087533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-0.4141	9.4109	0.38491	0.0:0.5011:0.0:0.4989	.	.	.	.	X	718;715;244	.	ENSP00000333114:C715X	C	+	3	2	TSHZ2	51305558	0.098000	0.21812	0.882000	0.34594	0.998000	0.95712	0.054000	0.14205	0.083000	0.17047	0.643000	0.83706	TGC		0.582	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		86	65	1	0	9.11151e-29	0.00361	1.26477e-28	86	65				
PCK1	5105	broad.mit.edu	37	20	56139383	56139383	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:56139383G>T	ENST00000319441.4	+	7	1284	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	PCK1_ENST00000543666.1_Missense_Mutation_p.D57Y|PCK1_ENST00000535860.1_Missense_Mutation_p.D242Y	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	374					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGAAGGCATTGATGAGCCGCT	0.557																																							uc002xyn.3		NA																	0				skin(1)	1						c.(1120-1122)GAT>TAT		cytosolic phosphoenolpyruvate carboxykinase 1							104.0	91.0	96.0					20																	56139383		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139383G>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1120G>T	20.37:g.56139383G>T	ENSP00000319814:p.Asp374Tyr					PCK1_uc010zzm.1_Missense_Mutation_p.D57Y	p.D374Y	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1283	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		374					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1120G>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658018	0.47467	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.10573	2.86;2.86;2.86	5.31	5.31	0.75309	.	0.086985	0.85682	D	0.000000	T	0.32071	0.0817	M	0.84326	2.69	0.80722	D	1	D;P	0.58268	0.982;0.781	P;B	0.61658	0.892;0.345	T	0.03259	-1.1055	10	0.66056	D	0.02	-44.3202	12.6654	0.56840	0.0757:0.0:0.9243:0.0	.	57;374	B4DT64;P35558	.;PCKGC_HUMAN	Y	56;374;57;242	ENSP00000319814:D374Y;ENSP00000445767:D57Y;ENSP00000444342:D242Y	ENSP00000319814:D374Y	D	+	1	0	PCK1	55572789	1.000000	0.71417	0.228000	0.23943	0.120000	0.20174	7.505000	0.81655	2.636000	0.89361	0.655000	0.94253	GAT		0.557	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			67	53	1	0	6.75472e-32	0.00361	9.52464e-32	67	53				
ZNF831	128611	broad.mit.edu	37	20	57767170	57767170	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:57767170C>T	ENST00000371030.2	+	1	1096	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	366							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGCACAGCCTTTCGGAGCA	0.766																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1096-1098)CTT>TTT		zinc finger protein 831							10.0	11.0	11.0					20																	57767170		1588	3618	5206	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767170C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1096C>T	20.37:g.57767170C>T	ENSP00000360069:p.Leu366Phe						p.L366F	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1096	+	all_lung(29;0.0085)		366					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1096C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573386	0.45902	.	.	ENSG00000124203	ENST00000371030	T	0.10668	2.85	5.05	3.06	0.35304	.	.	.	.	.	T	0.16342	0.0393	L	0.56769	1.78	0.32810	D	0.501379	D	0.54397	0.966	P	0.48598	0.583	T	0.20974	-1.0259	9	0.62326	D	0.03	-2.8873	9.8672	0.41152	0.0:0.784:0.1385:0.0775	.	366	Q5JPB2	ZN831_HUMAN	F	366	ENSP00000360069:L366F	ENSP00000360069:L366F	L	+	1	0	ZNF831	57200565	0.998000	0.40836	1.000000	0.80357	0.317000	0.28152	2.329000	0.43876	1.106000	0.41623	-0.175000	0.13238	CTT		0.766	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		20	33	0	0	0	0.008871	0	20	33				
OGFR	11054	broad.mit.edu	37	20	61444777	61444777	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:61444777C>T	ENST00000290291.6	+	7	1835	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	OGFR_ENST00000370461.1_Missense_Mutation_p.P552S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	604	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GACCCCAGGCCCCCGCCCGGC	0.741																																							uc002ydj.2		NA																	0					0						c.(1810-1812)CCC>TCC		opioid growth factor receptor							5.0	10.0	9.0					20																	61444777		1902	3972	5874	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444777C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1810C>T	20.37:g.61444777C>T	ENSP00000290291:p.Pro604Ser					OGFR_uc002ydk.2_Missense_Mutation_p.P587S|OGFR_uc002ydl.2_Missense_Mutation_p.P552S|uc011aam.1_Intron	p.P604S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1845	+	Breast(26;3.65e-08)		604			5.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.1810C>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.916785	0.33815	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	D;D	0.90563	-2.69;-2.69	1.03	-0.288	0.12855	.	.	.	.	.	T	0.79269	0.4417	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.61118	-0.7127	9	0.09084	T	0.74	.	6.6599	0.23009	0.0:0.3751:0.6248:0.0	.	604;587;604	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	S	604;584;439;552	ENSP00000290291:P604S;ENSP00000359491:P552S	ENSP00000290291:P604S	P	+	1	0	OGFR	60915222	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-1.992000	0.01476	-0.039000	0.13602	0.064000	0.15345	CCC		0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			9	15	0	0	0	0.008291	0	9	15				
BIRC7	79444	broad.mit.edu	37	20	61869809	61869809	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:61869809T>A	ENST00000217169.3	+	3	725	c.511T>A	c.(511-513)Tcc>Acc	p.S171T	BIRC7_ENST00000395306.1_Missense_Mutation_p.S84T|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Missense_Mutation_p.S171T|NKAIN4_ENST00000466885.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	171					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GGAGACTCACTCCCAGCTGCT	0.622																																							uc002yej.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(511-513)TCC>ACC		livin inhibitor of apoptosis isoform alpha							65.0	69.0	67.0					20																	61869809		2203	4300	6503	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61869809T>A	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.511T>A	20.37:g.61869809T>A	ENSP00000217169:p.Ser171Thr					BIRC7_uc010gkc.1_Missense_Mutation_p.S171T|BIRC7_uc002yei.2_Missense_Mutation_p.S171T|hsa-mir-3196|MI0014241_5'Flank	p.S171T	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			3	684	+	all_cancers(38;2.72e-09)		171					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.511T>A	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386655	0.25031	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.51325	0.9;0.71;1.86	3.73	-4.86	0.03132	.	1.125310	0.06819	N	0.791963	T	0.16896	0.0406	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.15206	-1.0445	10	0.12430	T	0.62	.	1.2044	0.01892	0.1532:0.3029:0.2923:0.2515	.	171;171;171	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	T	171;171;84	ENSP00000345213:S171T;ENSP00000217169:S171T;ENSP00000378717:S84T	ENSP00000217169:S171T	S	+	1	0	BIRC7	61340254	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.043000	0.13971	-1.107000	0.03004	-0.441000	0.05720	TCC		0.622	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		30	50	0	0	0	0.008361	0	30	50				
GMEB2	26205	broad.mit.edu	37	20	62221554	62221554	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:62221554G>A	ENST00000266068.1	-	9	1959	c.1481C>T	c.(1480-1482)tCg>tTg	p.S494L	GMEB2_ENST00000370069.1_Missense_Mutation_p.S443L|GMEB2_ENST00000370077.1_Missense_Mutation_p.S494L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	494					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGAGCCAGGCGAGGCCTGGGC	0.682																																							uc002yfp.1		NA																	0					0						c.(1480-1482)TCG>TTG		glucocorticoid modulatory element binding							25.0	27.0	26.0					20																	62221554		2197	4286	6483	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221554G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1481C>T	20.37:g.62221554G>A	ENSP00000266068:p.Ser494Leu					GMEB2_uc002yfo.1_Missense_Mutation_p.S416L|GMEB2_uc002yfq.1_Missense_Mutation_p.S494L	p.S494L	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		9	1960	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		494					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.1481C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	9.266	1.044522	0.19748	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.65549	-0.16;0.42;0.42	5.4	4.45	0.53987	.	0.369303	0.26314	N	0.025081	T	0.57051	0.2027	L	0.56769	1.78	0.19300	N	0.999978	B	0.31837	0.342	B	0.20184	0.028	T	0.54497	-0.8285	10	0.56958	D	0.05	-14.7435	15.6124	0.76737	0.0:0.1467:0.8533:0.0	.	494	Q9UKD1	GMEB2_HUMAN	L	443;494;494	ENSP00000359086:S443L;ENSP00000359094:S494L;ENSP00000266068:S494L	ENSP00000266068:S494L	S	-	2	0	GMEB2	61691998	0.726000	0.28059	0.219000	0.23793	0.126000	0.20510	3.063000	0.49978	1.263000	0.44181	0.655000	0.94253	TCG		0.682	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		16	68	0	0	0	0.003163	0	16	68				
TPTE	7179	broad.mit.edu	37	21	10907001	10907001	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10907001T>A	ENST00000361285.4	-	24	1889	c.1560A>T	c.(1558-1560)aaA>aaT	p.K520N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.K502N|TPTE_ENST00000342420.5_Missense_Mutation_p.K482N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	520	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCTTTTTGTTTATGTAGAT	0.343																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1558-1560)AAA>AAT		transmembrane phosphatase with tensin homology							120.0	106.0	110.0					21																	10907001		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10907001T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1560A>T	21.37:g.10907001T>A	ENSP00000355208:p.Lys520Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K502N|TPTE_uc002yir.1_Missense_Mutation_p.K482N|TPTE_uc010gkv.1_Missense_Mutation_p.K382N	p.K520N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	24	1928	-			520			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1560A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.935	1.215940	0.22373	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88818	-2.43;-2.43;-2.43	2.39	1.26	0.21427	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.93064	0.7792	M	0.87381	2.88	0.45261	D	0.998264	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.987	D	0.90322	0.4345	10	0.87932	D	0	-15.9505	4.7223	0.12924	0.0:0.2118:0.0:0.7882	.	482;502;520	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	502;520;482	ENSP00000298232:K502N;ENSP00000355208:K520N;ENSP00000344441:K482N	ENSP00000298232:K502N	K	-	3	2	TPTE	9928872	0.059000	0.20769	0.251000	0.24312	0.044000	0.14063	0.034000	0.13776	0.365000	0.24400	0.155000	0.16302	AAA		0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	124	0	0	0	0.001855	0	13	124				
TPTE	7179	broad.mit.edu	37	21	10933891	10933891	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10933891G>T	ENST00000361285.4	-	17	1317	c.988C>A	c.(988-990)Ctt>Att	p.L330I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.L312I|TPTE_ENST00000342420.5_Missense_Mutation_p.L292I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	330	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTTTTCAAGATCTTGAGCC	0.318																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(988-990)CTT>ATT		transmembrane phosphatase with tensin homology							246.0	247.0	247.0					21																	10933891		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933891G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.988C>A	21.37:g.10933891G>T	ENSP00000355208:p.Leu330Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L312I|TPTE_uc002yir.1_Missense_Mutation_p.L292I|TPTE_uc010gkv.1_Missense_Mutation_p.L192I	p.L330I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1356	-			330			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.988C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	7.297	0.612259	0.14066	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98550	-4.99;-4.99;-4.99	2.07	-4.15	0.03881	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	2.055470	0.02428	U	0.083227	D	0.94647	0.8274	N	0.12471	0.22	0.09310	N	1	B;B;B	0.31879	0.344;0.344;0.025	B;B;B	0.39465	0.3;0.225;0.011	D	0.92399	0.5928	10	0.35671	T	0.21	5.9533	6.3301	0.21264	0.0:0.3544:0.4524:0.1932	.	292;312;330	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	312;330;292	ENSP00000298232:L312I;ENSP00000355208:L330I;ENSP00000344441:L292I	ENSP00000298232:L312I	L	-	1	0	TPTE	9955762	0.003000	0.15002	0.001000	0.08648	0.444000	0.32077	-0.568000	0.05909	-1.765000	0.01303	0.194000	0.17425	CTT		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			71	494	1	0	2.60632e-51	0.00361	3.95385e-51	71	494				
TPTE	7179	broad.mit.edu	37	21	10934045	10934045	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10934045G>T	ENST00000361285.4	-	16	1261	c.932C>A	c.(931-933)aCt>aAt	p.T311N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.T293N|TPTE_ENST00000342420.5_Missense_Mutation_p.T273N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	311	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACTGTAGAGTGGGGACATT	0.299																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(931-933)ACT>AAT		transmembrane phosphatase with tensin homology							150.0	159.0	156.0					21																	10934045		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934045G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.932C>A	21.37:g.10934045G>T	ENSP00000355208:p.Thr311Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T293N|TPTE_uc002yir.1_Missense_Mutation_p.T273N|TPTE_uc010gkv.1_Missense_Mutation_p.T173N	p.T311N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1300	-			311			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.932C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554001	0.27739	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.31769	1.48;1.48;1.48	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.568564	0.18592	U	0.136719	T	0.28234	0.0697	M	0.66560	2.04	0.09310	N	1	P;P;B	0.36222	0.544;0.544;0.27	B;B;B	0.37731	0.176;0.257;0.18	T	0.12811	-1.0533	10	0.41790	T	0.15	-15.6529	4.6962	0.12804	0.1855:0.0:0.8145:0.0	.	273;293;311	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	293;311;273	ENSP00000298232:T293N;ENSP00000355208:T311N;ENSP00000344441:T273N	ENSP00000298232:T293N	T	-	2	0	TPTE	9955916	0.684000	0.27642	0.124000	0.21820	0.496000	0.33645	3.563000	0.53784	1.470000	0.48102	0.194000	0.17425	ACT		0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			56	405	1	0	1.22119e-34	0.00361	1.75737e-34	56	405				
LIPI	149998	broad.mit.edu	37	21	15554145	15554145	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:15554145G>A	ENST00000536861.1	-	4	576	c.577C>T	c.(577-579)Cca>Tca	p.P193S	LIPI_ENST00000344577.2_Missense_Mutation_p.P214S			Q6XZB0	LIPI_HUMAN	lipase, member I	193					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTATATGGTGGTTTTCTGGAG	0.403																																							uc002yjm.2		NA																	0				ovary(2)	2						c.(640-642)CCA>TCA		lipase, member I							93.0	89.0	90.0					21																	15554145		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554145G>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.577C>T	21.37:g.15554145G>A	ENSP00000440381:p.Pro193Ser					LIPI_uc010gkw.1_Missense_Mutation_p.P147S	p.P214S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	4	650	-			193					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.640C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.724746|1.724746	0.30593|0.30593	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.91011|.	-2.77;-2.77|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.238154|.	0.39615|.	N|.	0.001303|.	T|T	0.37758|0.37758	0.1015|0.1015	L|L	0.28192|0.28192	0.835|0.835	0.26038|0.26038	N|N	0.981645|0.981645	B;B|.	0.32620|.	0.378;0.378|.	B;B|.	0.36808|.	0.233;0.233|.	T|T	0.24977|0.24977	-1.0145|-1.0145	10|5	0.28530|.	T|.	0.3|.	.|.	13.62|13.62	0.62132|0.62132	0.0752:0.0:0.9248:0.0|0.0752:0.0:0.9248:0.0	.|.	193;214|.	G1JSG6;Q6XZB0-2|.	.;.|.	S|I	214;193;88|72	ENSP00000343331:P214S;ENSP00000440381:P193S|.	ENSP00000343331:P214S|.	P|T	-|-	1|2	0|0	LIPI|LIPI	14476016|14476016	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.006000|0.006000	0.05464|0.05464	3.029000|3.029000	0.49712|0.49712	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.403	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		6	82	0	0	0	0.004482	0	6	82				
CXADR	1525	broad.mit.edu	37	21	18937929	18937929	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:18937929G>T	ENST00000284878.7	+	7	1765	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	CXADR_ENST00000306618.10_Missense_Mutation_p.K298N|CXADR_ENST00000400166.1_Missense_Mutation_p.R252M|CXADR_ENST00000400169.1_Splice_Site_p.K339N|CXADR_ENST00000400165.1_Missense_Mutation_p.R200M	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	339					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CACCTGCTAAGGTAGCTGCCC	0.478																																							uc002yki.2		NA																	0				ovary(1)	1						c.(1015-1017)AAG>AAT		coxsackie virus and adenovirus receptor							61.0	58.0	59.0					21																	18937929		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18937929G>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1017G>T	21.37:g.18937929G>T	ENSP00000284878:p.Lys339Asn					CXADR_uc002ykh.1_3'UTR|CXADR_uc010gld.1_3'UTR|CXADR_uc010gle.1_3'UTR|CXADR_uc002ykj.1_Missense_Mutation_p.K312N	p.K339N	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	7	1135	+			339			Cytoplasmic (Potential).		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.1017G>T	CCDS33519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318796|4.318796	0.81469|0.81469	.|.	.|.	ENSG00000154639|ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618|ENST00000400166;ENST00000400165	T;T;D|D;D	0.88046|0.92699	-1.13;-1.09;-2.33|-2.9;-3.09	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.098725|.	0.64402|.	D|.	0.000002|.	D|D	0.95586|0.95586	0.8565|0.8565	.|.	.|.	.|.	0.52501|0.52501	D|D	0.999959|0.999959	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.962|.	D|D	0.95888|0.95888	0.8904|0.8904	9|6	0.23891|0.87932	T|D	0.37|0	.|.	18.3313|18.3313	0.90270|0.90270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	339;339|.	B7WPI3;P78310|.	.;CXAR_HUMAN|.	N|M	339;339;298|252;200	ENSP00000284878:K339N;ENSP00000383033:K339N;ENSP00000303395:K298N|ENSP00000383030:R252M;ENSP00000383029:R200M	ENSP00000284878:K339N|ENSP00000383029:R200M	K|R	+|+	3|2	2|0	CXADR|CXADR	17859800|17859800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.890000|4.890000	0.63178|0.63178	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	AAG|AGG		0.478	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			20	152	1	0	8.34094e-07	0.008871	9.01226e-07	20	152				
TMPRSS15	5651	broad.mit.edu	37	21	19666671	19666671	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:19666671C>T	ENST00000284885.3	-	21	2435	c.2402G>A	c.(2401-2403)gGt>gAt	p.G801D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	801	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATAATACAGACCCACAACCCA	0.532																																							uc002ykw.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2401-2403)GGT>GAT		enterokinase precursor							100.0	108.0	106.0					21																	19666671		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666671C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2402G>A	21.37:g.19666671C>T	ENSP00000284885:p.Gly801Asp						p.G801D	NM_002772	NP_002763	P98073	ENTK_HUMAN			21	2433	-			801			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2402G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237279	0.22711	.	.	ENSG00000154646	ENST00000284885	D	0.93076	-3.16	5.79	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.353101	0.29908	N	0.010895	D	0.90079	0.6901	L	0.37630	1.12	0.26816	N	0.968888	B	0.29590	0.25	B	0.35899	0.213	T	0.79732	-0.1680	9	.	.	.	.	14.4502	0.67379	0.0:0.285:0.715:0.0	.	801	P98073	ENTK_HUMAN	D	801	ENSP00000284885:G801D	.	G	-	2	0	TMPRSS15	18588542	0.973000	0.33851	0.024000	0.17045	0.015000	0.08874	1.678000	0.37586	0.759000	0.33084	-0.159000	0.13428	GGT		0.532	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		32	254	0	0	0	0.003755	0	32	254				
ADAMTS1	9510	broad.mit.edu	37	21	28214825	28214825	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:28214825G>T	ENST00000284984.3	-	2	1364	c.910C>A	c.(910-912)Ctg>Atg	p.L304M		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ACCACCACCAGGCTAACTGAA	0.512																																							uc002ymf.2		NA																	0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(910-912)CTG>ATG		ADAM metallopeptidase with thrombospondin type 1							105.0	86.0	92.0					21																	28214825		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28214825G>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.910C>A	21.37:g.28214825G>T	ENSP00000284984:p.Leu304Met						p.L304M	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	2	1365	-		Breast(209;0.000962)	304			Peptidase M12B.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.910C>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516416	0.85495	.	.	ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452	T;T;T	0.78003	-1.14;-1.14;-1.14	5.44	5.44	0.79542	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.85150	0.5631	M	0.69358	2.11	0.80722	D	1	P	0.44816	0.844	P	0.58873	0.847	D	0.85547	0.1219	9	0.66056	D	0.02	.	14.314	0.66434	0.0:0.0:0.8518:0.1482	.	304	Q9UHI8	ATS1_HUMAN	M	304;42;66	ENSP00000284984:L304M;ENSP00000429557:L42M;ENSP00000431065:L66M	ENSP00000284984:L304M	L	-	1	2	ADAMTS1	27136696	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.485000	0.66850	2.828000	0.97474	0.655000	0.94253	CTG		0.512	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			86	41	1	0	7.83748e-43	0.00361	1.17084e-42	86	41				
KRTAP13-3	337960	broad.mit.edu	37	21	31797877	31797877	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:31797877G>A	ENST00000390690.2	-	1	409	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	118						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGCCCAGTGAGGAGCAGCTCC	0.488																																							uc002yob.1		NA																	0				ovary(1)|lung(1)	2						c.(352-354)TCC>TCT		keratin associated protein 13-3							42.0	46.0	45.0					21																	31797877		2124	4275	6399	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31797877G>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.354C>T	21.37:g.31797877G>A							p.S118S	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	354	-			118					Q3LI78	Silent	SNP	ENST00000390690.2	37	c.354C>T	CCDS13591.1																																																																																				0.488	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			36	19	0	0	0	0.004878	0	36	19				
KRTAP19-7	337974	broad.mit.edu	37	21	31933555	31933555	+	Missense_Mutation	SNP	G	G	T	rs572700402		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:31933555G>T	ENST00000334849.2	-	1	78	c.54C>A	c.(52-54)ttC>ttA	p.F18L		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	18						intermediate filament (GO:0005882)		p.F18F(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGGCCACCGAATCCTCCAC	0.557																																							uc011adb.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(52-54)TTC>TTA		keratin associated protein 19-7							133.0	117.0	122.0					21																	31933555		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933555G>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.54C>A	21.37:g.31933555G>T	ENSP00000334696:p.Phe18Leu						p.F18L	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	54	-			18					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.54C>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.230217	0.01518	.	.	ENSG00000244362	ENST00000334849	T	0.11495	2.77	3.15	-6.3	0.02007	.	0.526515	0.15706	N	0.248647	T	0.06917	0.0176	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12734	-1.0536	9	0.87932	D	0	.	7.4302	0.27124	0.4922:0.114:0.3938:0.0	.	18	Q3SYF9	KR197_HUMAN	L	18	ENSP00000334696:F18L	ENSP00000334696:F18L	F	-	3	2	KRTAP19-7	30855426	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.494000	0.00452	-2.627000	0.00436	-2.899000	0.00093	TTC		0.557	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			25	187	1	0	1.10923e-09	0.00278	1.24519e-09	25	187				
KRTAP11-1	337880	broad.mit.edu	37	21	32253354	32253354	+	Nonstop_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:32253354A>T	ENST00000332378.4	-	1	520	c.490T>A	c.(490-492)Taa>Aaa	p.*164K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	0						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTACACACTTAGCAGGTTCTT	0.567																																							uc002yov.2		NA																	0				pancreas(1)	1						c.(490-492)TAA>AAA		keratin associated protein 11-1							70.0	69.0	69.0					21																	32253354		2203	4300	6503	SO:0001578	stop_lost	337880					keratin filament	structural molecule activity	g.chr21:32253354A>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.490T>A	21.37:g.32253354A>T							p.*164K	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	521	-			164					A1L4I8	Nonstop_Mutation	SNP	ENST00000332378.4	37	c.490T>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721073	0.48728	.	.	ENSG00000182591	ENST00000332378	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.316	0.32100	0.9117:0.0:0.0883:0.0	.	.	.	.	K	164	.	.	X	-	1	0	KRTAP11-1	31175225	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	4.032000	0.57274	2.197000	0.70478	0.529000	0.55759	TAA		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			28	179	0	0	0	0.00632	0	28	179				
DOPEY2	9980	broad.mit.edu	37	21	37618415	37618415	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:37618415G>A	ENST00000399151.3	+	19	4222	c.4137G>A	c.(4135-4137)caG>caA	p.Q1379Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1379					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTGCTGCAGAGGTGCAAAG	0.572																																							uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4135-4137)CAG>CAA		pad-1-like							82.0	74.0	77.0					21																	37618415		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618415G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4137G>A	21.37:g.37618415G>A						DOPEY2_uc011aeb.1_Silent_p.Q1328Q|DOPEY2_uc002yvh.2_Silent_p.Q230Q	p.Q1379Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4216	+			1379					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.4137G>A	CCDS13643.1																																																																																				0.572	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		6	138	0	0	0	0.001984	0	6	138				
SIM2	6493	broad.mit.edu	37	21	38115717	38115717	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:38115717C>A	ENST00000290399.6	+	9	1641	c.1028C>A	c.(1027-1029)tCc>tAc	p.S343Y	SIM2_ENST00000430056.3_Missense_Mutation_p.S343Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	343	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTTCAGCTGTCCCTGGAGCAG	0.567																																							uc002yvr.2		NA																	0				central_nervous_system(1)	1						c.(1027-1029)TCC>TAC		single-minded homolog 2 long isoform							100.0	104.0	103.0					21																	38115717		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115717C>A		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1028C>A	21.37:g.38115717C>A	ENSP00000290399:p.Ser343Tyr					SIM2_uc002yvq.2_Missense_Mutation_p.S343Y	p.S343Y	NM_005069	NP_005060	Q14190	SIM2_HUMAN			9	1084	+			343			Single-minded C-terminal.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.1028C>A	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635106	0.87760	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.08720	3.06;3.06	4.49	4.49	0.54785	Single-minded, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	M	0.69823	2.125	0.53005	D	0.999962	D;P	0.63880	0.993;0.917	D;P	0.63033	0.91;0.823	T	0.03728	-1.1009	10	0.87932	D	0	.	17.5293	0.87809	0.0:1.0:0.0:0.0	.	343;343	Q14190;Q14190-2	SIM2_HUMAN;.	Y	343	ENSP00000290399:S343Y;ENSP00000404176:S343Y	ENSP00000290399:S343Y	S	+	2	0	SIM2	37037587	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	6.716000	0.74702	2.182000	0.69389	0.462000	0.41574	TCC		0.567	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		35	207	1	0	3.76114e-14	0.004289	4.46777e-14	35	207				
KRTAP10-1	386677	broad.mit.edu	37	21	45959964	45959964	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45959964C>G	ENST00000400375.1	-	1	114	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	24						keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGCAGCTCTCTGGGCAGGCA	0.706																																							uc002zfh.1		NA																	0				skin(1)	1						c.(70-72)GAG>CAG		keratin associated protein 10-1							65.0	74.0	71.0					21																	45959964		2202	4298	6500	SO:0001583	missense	386677					keratin filament		g.chr21:45959964C>G	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.70G>C	21.37:g.45959964C>G	ENSP00000383226:p.Glu24Gln					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.E24Q	NM_198691	NP_941964	P60331	KR101_HUMAN			1	115	-			24					Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.70G>C	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	9.117	1.007993	0.19199	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.10099	2.91	3.35	3.35	0.38373	.	.	.	.	.	T	0.26629	0.0651	M	0.71296	2.17	0.24671	N	0.993411	D	0.76494	0.999	P	0.60682	0.878	T	0.02713	-1.1120	9	0.66056	D	0.02	.	10.3544	0.43956	0.0:1.0:0.0:0.0	.	24	P60331	KR101_HUMAN	Q	24	ENSP00000383226:E24Q	ENSP00000383226:E24Q	E	-	1	0	KRTAP10-1	44784392	0.972000	0.33761	1.000000	0.80357	0.418000	0.31294	0.891000	0.28309	1.872000	0.54250	0.491000	0.48974	GAG		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			124	76	0	0	0	0.00361	0	124	76				
KRTAP10-2	386679	broad.mit.edu	37	21	45970704	45970704	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45970704G>C	ENST00000391621.1	-	1	684	c.638C>G	c.(637-639)tCt>tGt	p.S213C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	213	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCTAGACTGCTGGCA	0.642																																							uc002zfi.1		NA																	0				large_intestine(1)	1						c.(637-639)TCT>TGT		keratin associated protein 10-2							115.0	122.0	120.0					21																	45970704		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970704G>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.638C>G	21.37:g.45970704G>C	ENSP00000375479:p.Ser213Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S213C	NM_198693	NP_941966	P60368	KR102_HUMAN			1	685	-			213			20.|22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.638C>G	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	12.21	1.870735	0.33069	.	.	ENSG00000205445	ENST00000391621	T	0.01613	4.73	3.1	2.17	0.27698	.	.	.	.	.	T	0.02571	0.0078	L	0.56280	1.765	0.09310	N	1	B	0.22414	0.069	B	0.18263	0.021	T	0.35919	-0.9769	9	0.51188	T	0.08	.	9.5099	0.39071	0.0:0.2191:0.7809:0.0	.	213	P60368	KR102_HUMAN	C	213	ENSP00000375479:S213C	ENSP00000375479:S213C	S	-	2	0	KRTAP10-2	44795132	0.001000	0.12720	0.001000	0.08648	0.614000	0.37383	0.623000	0.24447	0.459000	0.27016	0.462000	0.41574	TCT		0.642	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			46	333	0	0	0	0.00361	0	46	333				
KRTAP10-2	386679	broad.mit.edu	37	21	45970938	45970938	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45970938G>T	ENST00000391621.1	-	1	450	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	135	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CTGCTGGCAGGAGGAAGAGGC	0.617																																							uc002zfi.1		NA																	0				large_intestine(1)	1						c.(403-405)TCC>TAC		keratin associated protein 10-2							103.0	110.0	107.0					21																	45970938		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970938G>T	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.404C>A	21.37:g.45970938G>T	ENSP00000375479:p.Ser135Tyr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S135Y	NM_198693	NP_941966	P60368	KR102_HUMAN			1	451	-			135			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.404C>A	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	10.40	1.340603	0.24339	.	.	ENSG00000205445	ENST00000391621	T	0.00745	5.75	3.79	-1.11	0.09840	.	.	.	.	.	T	0.01124	0.0037	L	0.59436	1.845	0.09310	N	0.999991	B	0.33940	0.433	B	0.35278	0.199	T	0.41538	-0.9503	9	0.48119	T	0.1	.	8.4614	0.32929	0.0985:0.411:0.4905:0.0	.	135	P60368	KR102_HUMAN	Y	135	ENSP00000375479:S135Y	ENSP00000375479:S135Y	S	-	2	0	KRTAP10-2	44795366	0.000000	0.05858	0.017000	0.16124	0.011000	0.07611	-1.168000	0.03123	0.062000	0.16340	0.448000	0.29417	TCC		0.617	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			11	313	1	0	1.58986e-06	0.008291	1.70841e-06	11	313				
COL6A1	1291	broad.mit.edu	37	21	47421172	47421172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:47421172A>T	ENST00000361866.3	+	30	1942	c.1828A>T	c.(1828-1830)Aag>Tag	p.K610*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	610	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGCAGAATGCAAGTGCGGCCC	0.647																																							uc002zhu.1		NA																	0				ovary(1)	1						c.(1828-1830)AAG>TAG		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						79.0	76.0	77.0					21																	47421172		2203	4300	6503	SO:0001587	stop_gained	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421172A>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1828A>T	21.37:g.47421172A>T	ENSP00000355180:p.Lys610*					COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'UTR|COL6A1_uc002zhw.1_5'Flank	p.K610*	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	30	1930	+	all_hematologic(128;0.24)		610			C-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Nonsense_Mutation	SNP	ENST00000361866.3	37	c.1828A>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	39	7.725156	0.98456	.	.	ENSG00000142156	ENST00000361866	.	.	.	5.07	3.9	0.45041	.	0.215951	0.37857	N	0.001906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7136	12.1502	0.54046	0.8569:0.1431:0.0:0.0	.	.	.	.	X	610	.	ENSP00000355180:K610X	K	+	1	0	COL6A1	46245600	0.998000	0.40836	0.999000	0.59377	0.502000	0.33828	4.204000	0.58460	0.763000	0.33175	0.366000	0.22137	AAG		0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		117	65	0	0	0	0.00361	0	117	65				
POTEH	23784	broad.mit.edu	37	22	16287306	16287306	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:16287306G>T	ENST00000343518.6	-	1	631	c.580C>A	c.(580-582)Ctc>Atc	p.L194I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	194										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGACGATGAGATCCTTTCTG	0.562																																							uc010gqp.2		NA																	0				skin(1)	1						c.(580-582)CTC>ATC		ANKRD26-like family C, member 3							17.0	19.0	18.0					22																	16287306		1894	3639	5533	SO:0001583	missense	23784							g.chr22:16287306G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.580C>A	22.37:g.16287306G>T	ENSP00000340610:p.Leu194Ile					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.L29I	p.L194I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	632	-			194			ANK 1.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.580C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.734	1.162952	0.21538	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.55930	0.49	1.38	0.209	0.15226	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.52354	0.1729	L	0.31371	0.925	0.09310	N	1	D	0.63046	0.992	D	0.65684	0.937	T	0.38824	-0.9643	9	0.42905	T	0.14	.	5.3769	0.16170	0.0:0.3624:0.6376:0.0	.	194	Q6S545	POTEH_HUMAN	I	157;194;194	ENSP00000340610:L194I	ENSP00000340610:L194I	L	-	1	0	POTEH	14667306	0.006000	0.16342	0.000000	0.03702	0.462000	0.32619	1.156000	0.31712	0.130000	0.18549	0.152000	0.16155	CTC		0.562	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		57	276	1	0	1.12115e-39	0.00361	1.64235e-39	57	276				
GNAZ	2781	broad.mit.edu	37	22	23438506	23438506	+	Silent	SNP	G	G	A	rs34937804	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:23438506G>A	ENST00000248996.4	+	2	1290	c.624G>A	c.(622-624)gaG>gaA	p.E208E	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	208					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAGGTCAGAGCGCAAAAAGT	0.567													G|||	18	0.00359425	0.0136	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.0						uc002zwu.1		NA																	0				kidney(1)|skin(1)	2						c.(622-624)GAG>GAA		guanine nucleotide binding protein, alpha z		G	,	72,4334	65.3+/-102.7	2,68,2133	162.0	173.0	169.0		624,	0.1	1.0	22	dbSNP_126	169	0,8600		0,0,4300	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	2,68,6433	AA,AG,GG		0.0,1.6341,0.5536	,	208/356,	23438506	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438506G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.624G>A	22.37:g.23438506G>A						RTDR1_uc002zwt.2_Intron	p.E208E	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1161	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		208					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.624G>A	CCDS13804.1																																																																																				0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		174	86	0	0	0	0.00361	0	174	86				
SMTN	6525	broad.mit.edu	37	22	31493257	31493257	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:31493257G>T	ENST00000347557.2	+	16	2310	c.2092G>T	c.(2092-2094)Ggc>Tgc	p.G698C	SMTN_ENST00000333137.7_Missense_Mutation_p.G698C|SMTN_ENST00000358743.1_Missense_Mutation_p.G698C|SMTN_ENST00000404574.1_Missense_Mutation_p.G221C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	698					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTTTGCAGATGGCAGTGGCAG	0.582																																							uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(2092-2094)GGC>TGC		smoothelin isoform c							144.0	134.0	138.0					22																	31493257		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31493257G>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2092G>T	22.37:g.31493257G>T	ENSP00000328635:p.Gly698Cys					SMTN_uc003ajk.1_Missense_Mutation_p.G698C|SMTN_uc003ajm.1_Missense_Mutation_p.G698C|SMTN_uc011ale.1_Missense_Mutation_p.G783C|SMTN_uc011alf.1_Missense_Mutation_p.G754C|SMTN_uc003ajn.1_Missense_Mutation_p.G721C|SMTN_uc011alg.1_Missense_Mutation_p.G154C|SMTN_uc003ajo.1_Missense_Mutation_p.G221C|SMTN_uc010gwe.1_Missense_Mutation_p.G78C	p.G698C	NM_006932	NP_008863	P53814	SMTN_HUMAN			16	2310	+			698					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2092G>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094241	0.56075	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.93133	-0.23;-0.61;-0.61;1.91;-3.17	3.92	3.92	0.45320	.	0.215531	0.23712	N	0.045309	D	0.94857	0.8338	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.991;0.996;1.0;1.0;0.98;0.977;0.972;0.978	P;P;D;D;P;P;P;P	0.83275	0.726;0.867;0.996;0.996;0.737;0.503;0.728;0.711	D	0.95413	0.8500	10	0.87932	D	0	-10.3725	15.0348	0.71738	0.0:0.0:1.0:0.0	.	754;783;78;221;721;698;698;698	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	698;698;698;696;721;99;221;78	ENSP00000351593:G698C;ENSP00000328635:G698C;ENSP00000329532:G698C;ENSP00000392329:G99C;ENSP00000383919:G221C	ENSP00000329393:G696C	G	+	1	0	SMTN	29823257	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.406000	0.59748	2.141000	0.66446	0.400000	0.26472	GGC		0.582	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		75	68	1	0	6.30617e-38	0.00361	9.18283e-38	75	68				
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582																																							uc003atr.2		NA																	2	Substitution - Missense(2)		NS(1)|lung(1)	central_nervous_system(1)	1						c.(1237-1239)AAA>AGA		TRIO and F-actin binding protein isoform 6							119.0	123.0	122.0					22																	38119801		1926	4146	6072	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119801A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1238A>G	22.37:g.38119801A>G	ENSP00000384312:p.Lys413Arg					TRIOBP_uc003atu.2_Missense_Mutation_p.K241R|TRIOBP_uc003atq.1_Missense_Mutation_p.K413R|TRIOBP_uc003ats.1_Missense_Mutation_p.K241R	p.K413R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1509	+	Melanoma(58;0.0574)		413					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1238A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	2.948	-0.217370	0.06101	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.16073	2.37	2.48	-4.11	0.03928	.	.	.	.	.	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	9	0.44086	T	0.13	.	4.7887	0.13238	0.3678:0.1561:0.4761:0.0	.	413	Q9H2D6	TARA_HUMAN	R	413	ENSP00000384312:K413R	ENSP00000384312:K413R	K	+	2	0	TRIOBP	36449747	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.094000	0.11094	-1.251000	0.02494	-1.450000	0.01041	AAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	140	0	0	0	0.009096	0	4	140				
APOBEC3H	164668	broad.mit.edu	37	22	39497382	39497382	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:39497382G>C	ENST00000401756.1	+	3	367	c.291G>C	c.(289-291)aaG>aaC	p.K97N	APOBEC3H_ENST00000348946.4_Missense_Mutation_p.K97N|APOBEC3H_ENST00000442487.3_Missense_Mutation_p.K97N|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.K97N	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	97					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					ACTTCATCAAGGCTCACGACC	0.602																																							uc011aoh.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(289-291)AAG>AAC		apolipoprotein B mRNA editing enzyme, catalytic							122.0	87.0	99.0					22																	39497382		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497382G>C	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.291G>C	22.37:g.39497382G>C	ENSP00000385741:p.Lys97Asn					APOBEC3H_uc011aoi.1_5'Flank|APOBEC3H_uc003axa.3_5'Flank	p.K97N	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN			3	357	+	Melanoma(58;0.04)		97					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.291G>C	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	9.136	1.012721	0.19277	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	3.33	-6.67	0.01783	.	.	.	.	.	T	0.43277	0.1240	L	0.35793	1.09	0.09310	N	1	B	0.28419	0.211	B	0.30401	0.115	T	0.31503	-0.9941	9	0.38643	T	0.18	-10.6564	3.9186	0.09234	0.1365:0.4137:0.3365:0.1133	.	97	B7TQM3	.	N	97	ENSP00000216123:K97N;ENSP00000411754:K97N;ENSP00000393520:K97N;ENSP00000385741:K97N	ENSP00000216123:K97N	K	+	3	2	APOBEC3H	37827328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.562000	0.00920	-1.948000	0.01033	-0.384000	0.06662	AAG		0.602	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		19	83	0	0	0	0.008871	0	19	83				
CPT1B	1375	broad.mit.edu	37	22	51014701	51014701	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:51014701T>C	ENST00000360719.2	-	6	762	c.625A>G	c.(625-627)Aaa>Gaa	p.K209E	CPT1B_ENST00000440709.1_Missense_Mutation_p.K209E|CPT1B_ENST00000457250.1_Missense_Mutation_p.K175E|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.K6E|CPT1B_ENST00000395650.2_Missense_Mutation_p.K209E|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.K209E|CPT1B_ENST00000405237.3_Missense_Mutation_p.K209E	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	209					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGAATTCTTTGGCCAGCAAC	0.537											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(625-627)AAA>GAA		carnitine palmitoyltransferase 1B isoform a							111.0	109.0	110.0					22																	51014701		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51014701T>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.625A>G	22.37:g.51014701T>C	ENSP00000353945:p.Lys209Glu		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_uc003bml.2_Missense_Mutation_p.K209E|CPT1B_uc003bmm.2_Missense_Mutation_p.K209E|CPT1B_uc003bmo.2_Missense_Mutation_p.K209E|CPT1B_uc011asa.1_Missense_Mutation_p.K175E|CPT1B_uc003bmn.2_Missense_Mutation_p.K209E|CPT1B_uc011asb.1_Missense_Mutation_p.K209E|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.K6E	p.K209E	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	5	787	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	209			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.625A>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	4.811	0.150701	0.09185	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.88896	-2.44;-2.44;-2.44;-1.33;-2.44;-1.33;-2.44	4.51	3.48	0.39840	.	0.156361	0.56097	D	0.000029	T	0.75925	0.3916	N	0.16602	0.42	0.44366	D	0.997269	B;B;B;B	0.13594	0.008;0.001;0.001;0.0	B;B;B;B	0.13407	0.009;0.009;0.008;0.008	T	0.63161	-0.6699	10	0.16420	T	0.52	-21.3473	6.0238	0.19644	0.0:0.2029:0.0:0.7971	.	209;175;6;209	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	E	209;209;209;175;209;6;209	ENSP00000385486:K209E;ENSP00000312189:K209E;ENSP00000353945:K209E;ENSP00000409342:K175E;ENSP00000414713:K209E;ENSP00000410966:K6E;ENSP00000379011:K209E	ENSP00000312189:K209E	K	-	1	0	CPT1B	49361567	0.912000	0.30974	1.000000	0.80357	0.609000	0.37215	0.676000	0.25247	0.768000	0.33290	-0.411000	0.06167	AAA		0.537	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		39	75	0	0	0	0.00623	0	39	75				
UBE2E2	7325	broad.mit.edu	37	3	23250330	23250330	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:23250330G>T	ENST00000396703.1	+	2	320	c.140G>T	c.(139-141)aGc>aTc	p.S47I	UBE2E2_ENST00000425792.1_Missense_Mutation_p.S47I	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	47					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						AAAATATCCAGCAAAACCGCT	0.363																																					GBM(85;1941 2083 9456)	GBM(85;1941 2083 9456)	uc003ccg.2		NA																	0					0						c.(139-141)AGC>ATC		ubiquitin-conjugating enzyme E2E 2							87.0	80.0	82.0					3																	23250330		2203	4300	6503	SO:0001583	missense	7325				ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity	g.chr3:23250330G>T	AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.140G>T	3.37:g.23250330G>T	ENSP00000379931:p.Ser47Ile					UBE2E2_uc010hfc.2_RNA	p.S47I	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN			2	320	+			47						Missense_Mutation	SNP	ENST00000396703.1	37	c.140G>T	CCDS2637.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737383	0.69304	.	.	ENSG00000182247	ENST00000425792;ENST00000452894;ENST00000396703	T;T;T	0.66815	-0.23;-0.23;-0.23	5.7	5.7	0.88788	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.50627	D	0.000104	T	0.80019	0.4547	M	0.62723	1.935	0.47584	D	0.999467	D	0.61697	0.99	D	0.66497	0.944	T	0.80659	-0.1284	10	0.66056	D	0.02	.	18.822	0.92100	0.0:0.0:1.0:0.0	.	47	Q96LR5	UB2E2_HUMAN	I	47	ENSP00000401053:S47I;ENSP00000392800:S47I;ENSP00000379931:S47I	ENSP00000338340:S47I	S	+	2	0	UBE2E2	23225334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.234000	0.95347	2.692000	0.91855	0.591000	0.81541	AGC		0.363	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		10	31	1	0	5.50884e-06	0.001368	5.83639e-06	10	31				
SCN11A	11280	broad.mit.edu	37	3	38888582	38888582	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:38888582G>A	ENST00000302328.3	-	26	5177	c.4979C>T	c.(4978-4980)gCa>gTa	p.A1660V	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1622V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1660V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1660					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTTGGCTTTGCGACACGCAA	0.438																																							uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4978-4980)GCA>GTA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						91.0	94.0	93.0					3																	38888582		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888582G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4979C>T	3.37:g.38888582G>A	ENSP00000307599:p.Ala1660Val						p.A1660V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5178	-			1660					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4979C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576100	0.65878	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96334	-3.98;-3.98;-3.94	5.46	4.58	0.56647	.	0.239727	0.42682	D	0.000680	D	0.95582	0.8564	M	0.74467	2.265	0.41155	D	0.986052	P	0.51791	0.948	B	0.43301	0.415	D	0.95261	0.8369	10	0.72032	D	0.01	.	14.062	0.64806	0.0723:0.0:0.9277:0.0	.	1660	Q9UI33	SCNBA_HUMAN	V	1660;1660;1622	ENSP00000307599:A1660V;ENSP00000400945:A1660V;ENSP00000416757:A1622V	ENSP00000307599:A1660V	A	-	2	0	SCN11A	38863586	1.000000	0.71417	0.837000	0.33122	0.904000	0.53231	9.807000	0.99171	1.295000	0.44724	0.650000	0.86243	GCA		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		48	86	0	0	0	0.00361	0	48	86				
SLC25A38	54977	broad.mit.edu	37	3	39432974	39432974	+	Missense_Mutation	SNP	A	A	C	rs535344665		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:39432974A>C	ENST00000273158.4	+	4	696	c.319A>C	c.(319-321)Act>Cct	p.T107P		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTACTTTGGCACTCTCTACTC	0.502																																							uc003cjo.2		NA																	0					0						c.(319-321)ACT>CCT		solute carrier family 25, member 38							291.0	312.0	305.0					3																	39432974		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39432974A>C	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.319A>C	3.37:g.39432974A>C	ENSP00000273158:p.Thr107Pro						p.T107P	NM_017875	NP_060345	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	720	+			107			Solcar 1.|Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000273158.4	37	c.319A>C	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	a	28.4	4.919096	0.92249	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.81078	-1.45;-1.45	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90324	0.6973	M	0.91972	3.26	0.80722	D	1	P	0.45569	0.861	P	0.59424	0.857	D	0.91838	0.5481	10	0.62326	D	0.03	-18.8403	12.9579	0.58441	1.0:0.0:0.0:0.0	.	107	Q96DW6	S2538_HUMAN	P	107;103	ENSP00000273158:T107P;ENSP00000394244:T103P	ENSP00000273158:T107P	T	+	1	0	SLC25A38	39407978	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.467000	0.66737	1.953000	0.56701	0.533000	0.62120	ACT		0.502	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		171	427	0	0	0	0.00361	0	171	427				
CTNNB1	1499	broad.mit.edu	37	3	41266166	41266166	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:41266166G>A	ENST00000349496.5	+	3	443	c.163G>A	c.(163-165)Gag>Aag	p.E55K	CTNNB1_ENST00000396185.3_Missense_Mutation_p.E55K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E55K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E55K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E48K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	55					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.E55K(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCTGAGGAAGAGGATGTGGA	0.463		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	113	Deletion - In frame(88)|Complex - deletion inframe(15)|Unknown(7)|Substitution - Missense(3)	p.A5_A80del(63)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.E55K(3)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A5_Q72del(1)|p.A5_G80>(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.E55G(1)|p.V22_G80>NNNNN(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.A20_R151del(1)|p.L7_I140del(1)|p.A21_A80del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.V22_A80del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D6_I140del(1)|p.S23_I140del(1)|p.A20_L148del(1)|p.Q28_I140del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	liver(81)|large_intestine(16)|stomach(7)|thyroid(2)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(163-165)GAG>AAG		beta-catenin	Lithium(DB01356)						73.0	67.0	69.0					3																	41266166		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266166G>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.163G>A	3.37:g.41266166G>A	ENSP00000344456:p.Glu55Lys					CTNNB1_uc003ckp.2_Missense_Mutation_p.E55K|CTNNB1_uc003ckq.2_Missense_Mutation_p.E55K|CTNNB1_uc003ckr.2_Missense_Mutation_p.E55K|CTNNB1_uc011azf.1_Missense_Mutation_p.E48K|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.E55K	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	319	+			55					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.163G>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584861	0.46110	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.91	5.91	0.95273	.	0.090529	0.85682	D	0.000000	T	0.39937	0.1097	L	0.38175	1.15	0.58432	D	0.999999	B	0.25609	0.13	B	0.28465	0.09	T	0.09443	-1.0674	10	0.34782	T	0.22	-12.7154	20.2983	0.98569	0.0:0.0:1.0:0.0	.	55	P35222	CTNB1_HUMAN	K	48;55;55;55;55;48;55;55;55	ENSP00000400508:E48K;ENSP00000385604:E55K;ENSP00000412219:E55K;ENSP00000379486:E55K;ENSP00000344456:E55K;ENSP00000411226:E48K;ENSP00000379488:E55K;ENSP00000409302:E55K;ENSP00000401599:E55K	ENSP00000344456:E55K	E	+	1	0	CTNNB1	41241170	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	GAG		0.463	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		20	55	0	0	0	0.010504	0	20	55				
SETD2	29072	broad.mit.edu	37	3	47162371	47162371	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:47162371G>C	ENST00000409792.3	-	3	3797	c.3755C>G	c.(3754-3756)tCa>tGa	p.S1252*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1252					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGCTCTTCTGATGAGTGCAA	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3754-3756)TCA>TGA		SET domain containing 2							106.0	106.0	106.0					3																	47162371		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162371G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3755C>G	3.37:g.47162371G>C	ENSP00000386759:p.Ser1252*					SETD2_uc003cqv.2_Nonsense_Mutation_p.S1241*	p.S1252*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3808	-		Acute lymphoblastic leukemia(5;0.0169)	1252					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3755C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	39	7.395568	0.98258	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.28	5.28	0.74379	.	0.606642	0.14610	N	0.309115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.4002	0.67037	0.0728:0.0:0.9272:0.0	.	.	.	.	X	1252;1252;1252;1208	.	ENSP00000386759:S1252X	S	-	2	0	SETD2	47137375	0.639000	0.27234	1.000000	0.80357	0.978000	0.69477	2.683000	0.46943	2.756000	0.94617	0.655000	0.94253	TCA		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		32	119	0	0	0	0.012213	0	32	119				
MAP4	4134	broad.mit.edu	37	3	47956430	47956430	+	Splice_Site	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:47956430C>G	ENST00000360240.6	-	8	2395		c.e8-1		MAP4_ENST00000426837.2_Splice_Site|MAP4_ENST00000395734.3_Splice_Site|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GTGACGGTTTCTAAAGGTAAT	0.443																																							uc003csb.2		NA																	0				ovary(2)|pancreas(1)	3						c.e8-1		microtubule-associated protein 4 isoform 1							119.0	124.0	123.0					3																	47956430		2203	4300	6503	SO:0001630	splice_region_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47956430C>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1877-1G>C	3.37:g.47956430C>G						MAP4_uc003csc.3_Splice_Site_p.E626_splice|MAP4_uc011bbf.1_Splice_Site_p.E603_splice|MAP4_uc003csf.3_Splice_Site_p.E643_splice	p.E626_splice	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	2403	-								Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Splice_Site	SNP	ENST00000360240.6	37	c.1877_splice	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341392	0.24339	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2371	0.59974	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4	47931434	1.000000	0.71417	0.990000	0.47175	0.085000	0.17905	3.171000	0.50824	2.378000	0.81104	0.650000	0.86243	.		0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	Intron	45	139	0	0	0	0.00361	0	45	139				
CELSR3	1951	broad.mit.edu	37	3	48699679	48699679	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:48699679C>G	ENST00000164024.4	-	1	669	c.389G>C	c.(388-390)gGg>gCg	p.G130A	CELSR3_ENST00000544264.1_Missense_Mutation_p.G130A|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	130					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAACACAGACCCTGGTCCCTG	0.622																																							uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(388-390)GGG>GCG		cadherin EGF LAG seven-pass G-type receptor 3							81.0	91.0	88.0					3																	48699679		2192	4284	6476	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699679C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.389G>C	3.37:g.48699679C>G	ENSP00000164024:p.Gly130Ala					CELSR3_uc003cuf.1_Missense_Mutation_p.G200A	p.G130A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	670	-			130			Extracellular (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.389G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505675	0.26949	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.72615	-0.67;-0.66	5.05	3.24	0.37175	.	.	.	.	.	T	0.49983	0.1589	N	0.08118	0	0.21473	N	0.999679	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.43845	-0.9366	9	0.56958	D	0.05	.	9.3899	0.38367	0.0:0.7739:0.1459:0.0802	.	130;200	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	A	130	ENSP00000164024:G130A;ENSP00000445694:G130A	ENSP00000164024:G130A	G	-	2	0	CELSR3	48674683	0.002000	0.14202	0.195000	0.23364	0.733000	0.41908	0.759000	0.26461	0.715000	0.32103	-0.175000	0.13238	GGG		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		72	174	0	0	0	0.00361	0	72	174				
USP19	10869	broad.mit.edu	37	3	49152706	49152706	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:49152706C>A	ENST00000398888.2	-	12	1986	c.1668G>T	c.(1666-1668)gcG>gcT	p.A556A	USP19_ENST00000417901.1_Silent_p.A659A|USP19_ENST00000434032.2_Silent_p.A657A|USP19_ENST00000398892.3_Silent_p.A596A|USP19_ENST00000398898.2_Silent_p.A596A|USP19_ENST00000398896.1_Silent_p.A364A|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Silent_p.A647A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	556	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTTCCACAGCGCCCGAAGCA	0.602																																							uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(1666-1668)GCG>GCT		ubiquitin thioesterase 19							46.0	52.0	50.0					3																	49152706		2074	4192	6266	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152706C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1668G>T	3.37:g.49152706C>A						USP19_uc003cwa.2_Silent_p.A364A|USP19_uc003cvz.3_Silent_p.A659A|USP19_uc011bcg.1_Silent_p.A647A|USP19_uc003cwb.2_Silent_p.A642A|USP19_uc003cwc.1_Silent_p.A314A|USP19_uc011bch.1_Silent_p.A657A	p.A556A	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1829	-			556			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.1668G>T	CCDS43090.1																																																																																				0.602	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		16	48	1	0	2.32078e-09	0.003163	2.59631e-09	16	48				
RNF123	63891	broad.mit.edu	37	3	49753568	49753568	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:49753568G>C	ENST00000327697.6	+	34	3517	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q	RNF123_ENST00000433785.1_Missense_Mutation_p.E237Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1125					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGTGACAGCTGAGAGGAACCT	0.602																																							uc003cxh.2		NA																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3373-3375)GAG>CAG		ring finger protein 123							86.0	74.0	78.0					3																	49753568		2203	4299	6502	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753568G>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3373G>C	3.37:g.49753568G>C	ENSP00000328287:p.Glu1125Gln					RNF123_uc003cxi.2_RNA	p.E1125Q	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	34	3459	+			1125					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3373G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375456	0.82682	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.72167	-0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.66752	-0.5844	10	0.13108	T	0.6	-33.8179	19.6321	0.95713	0.0:0.0:1.0:0.0	.	1125	Q5XPI4	RN123_HUMAN	Q	1125;1125;237	ENSP00000328287:E1125Q	ENSP00000328287:E1125Q	E	+	1	0	RNF123	49728572	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.850000	0.92190	2.884000	0.98904	0.655000	0.94253	GAG		0.602	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		9	24	0	0	0	0.006214	0	9	24				
DOCK3	1795	broad.mit.edu	37	3	51418789	51418789	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:51418789T>C	ENST00000266037.9	+	53	5915	c.5892T>C	c.(5890-5892)ccT>ccC	p.P1964P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1964					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGTCATCCCTCAGGACCCCA	0.677																																							uc011bds.1		NA																	0					0						c.(5890-5892)CCT>CCC		dedicator of cytokinesis 3							50.0	57.0	55.0					3																	51418789		2128	4238	6366	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418789T>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5892T>C	3.37:g.51418789T>C							p.P1964P	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5915	+			1964					O15017	Silent	SNP	ENST00000266037.9	37	c.5892T>C	CCDS46835.1																																																																																				0.677	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		3	72	0	0	0	0.004672	0	3	72				
STAB1	23166	broad.mit.edu	37	3	52557671	52557671	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:52557671C>A	ENST00000321725.6	+	66	7370	c.7294C>A	c.(7294-7296)Cca>Aca	p.P2432T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2432	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGCAGGCCCCAGGGACAGT	0.632																																							uc003dej.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(7294-7296)CCA>ACA		stabilin 1 precursor							70.0	68.0	69.0					3																	52557671		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557671C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7294C>A	3.37:g.52557671C>A	ENSP00000312946:p.Pro2432Thr					STAB1_uc003del.2_Missense_Mutation_p.P344T	p.P2432T	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	66	7368	+			2432			Extracellular (Potential).|FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.7294C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314242	0.10789	.	.	ENSG00000010327	ENST00000321725	D	0.91180	-2.8	5.79	3.92	0.45320	FAS1 domain (4);	0.570048	0.16761	N	0.200592	T	0.75532	0.3862	N	0.11255	0.115	0.33511	D	0.591202	B;B	0.31153	0.31;0.067	B;B	0.27076	0.076;0.015	T	0.73553	-0.3946	10	0.02654	T	1	.	9.0951	0.36634	0.1483:0.7719:0.0:0.0798	.	344;2432	B3KSK0;Q9NY15	.;STAB1_HUMAN	T	2432	ENSP00000312946:P2432T	ENSP00000312946:P2432T	P	+	1	0	STAB1	52532711	0.000000	0.05858	0.996000	0.52242	0.553000	0.35397	0.097000	0.15168	2.745000	0.94114	0.462000	0.41574	CCA		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		20	55	1	0	5.35267e-07	0.007413	5.82199e-07	20	55				
TMEM110	375346	broad.mit.edu	37	3	52886638	52886638	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:52886638C>T	ENST00000355083.5	-	3	431	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E96K	NM_198563.2	NP_940965.1	Q86TL2	TM110_HUMAN	transmembrane protein 110	96						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		GGGTCCTCTTCAGTGAGATCT	0.443																																							uc003dge.2		NA																	0				large_intestine(1)	1						c.(286-288)GAA>AAA		transmembrane protein 110							198.0	198.0	198.0					3																	52886638		2203	4300	6503	SO:0001583	missense	375346					integral to membrane		g.chr3:52886638C>T	BC047015	CCDS2866.1	3p21.1	2010-08-13			ENSG00000213533	ENSG00000213533			30526	protein-coding gene	gene with protein product						12477932	Standard	NM_198563		Approved	MGC52022		Q86TL2	OTTHUMG00000150346	ENST00000355083.5:c.286G>A	3.37:g.52886638C>T	ENSP00000347195:p.Glu96Lys					TMEM110_uc003dgc.3_Missense_Mutation_p.E96K	p.E96K	NM_198563	NP_940965	Q86TL2	TM110_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)	3	367	-			96						Missense_Mutation	SNP	ENST00000355083.5	37	c.286G>A	CCDS2866.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890435	0.52014	.	.	ENSG00000248592;ENSG00000213533	ENST00000504329;ENST00000355083	.	.	.	5.29	5.29	0.74685	.	0.130692	0.50627	U	0.000103	T	0.42743	0.1216	N	0.25890	0.77	0.50171	D	0.999854	B;B	0.12013	0.001;0.005	B;B	0.09377	0.002;0.004	T	0.27606	-1.0069	9	0.25751	T	0.34	-7.0932	11.9177	0.52776	0.0:0.9153:0.0:0.0847	.	96;96	Q86TL2;A8MSY1	TM110_HUMAN;.	K	96	.	ENSP00000347195:E96K	E	-	1	0	TMEM110-MUSTN1;TMEM110	52861678	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.595000	0.61048	2.465000	0.83290	0.563000	0.77884	GAA		0.443	TMEM110-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352949.2	NM_198563		9	218	0	0	0	0.010729	0	9	218				
PDZRN3	23024	broad.mit.edu	37	3	73432844	73432844	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:73432844G>T	ENST00000263666.4	-	10	2987	c.2873C>A	c.(2872-2874)aCc>aAc	p.T958N	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T680N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T615N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T615N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T675N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	958					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCGTCGGTGGTCATGCCGCT	0.682																																							uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2872-2874)ACC>AAC		PDZ domain containing ring finger 3							59.0	57.0	58.0					3																	73432844		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432844G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2873C>A	3.37:g.73432844G>T	ENSP00000263666:p.Thr958Asn					PDZRN3_uc011bgh.1_Missense_Mutation_p.T615N|PDZRN3_uc010hoe.1_Missense_Mutation_p.T656N|PDZRN3_uc011bgf.1_Missense_Mutation_p.T675N|PDZRN3_uc011bgg.1_Missense_Mutation_p.T678N	p.T958N	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2969	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	958					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2873C>A	CCDS33789.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.97|17.97|17.97	3.517756|3.517756|3.517756	0.64634|0.64634|0.64634	.|.|.	.|.|.	ENSG00000121440|ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|.|T;T;T;T;T	.|.|0.43294	.|.|0.95;0.95;0.95;0.95;0.95	5.27|5.27|5.27	5.27|5.27|5.27	0.74061|0.74061|0.74061	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.68320|0.68320|0.68320	0.2988|0.2988|0.2988	M|M|M	0.81942|0.81942|0.81942	2.565|2.565|2.565	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0;1.0	.|.|D;D;D;D	.|.|0.91635	.|.|0.999;0.997;0.999;0.996	T|T|T	0.73161|0.73161|0.73161	-0.4070|-0.4070|-0.4070	6|5|10	0.16896|.|0.87932	T|.|D	0.51|.|0	.|.|.	18.5104|18.5104|18.5104	0.90914|0.90914|0.90914	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|680;675;675;958	.|.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.|.;.;.;PZRN3_HUMAN	E|T|N	677|274|958;680;615;615;675	.|.|ENSP00000263666:T958N;ENSP00000442026:T680N;ENSP00000418168:T615N;ENSP00000418484:T615N;ENSP00000418624:T675N	ENSP00000392657:D677E|.|ENSP00000263666:T958N	D|P|T	-|-|-	3|1|2	2|0|0	PDZRN3|PDZRN3|PDZRN3	73515534|73515534|73515534	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.465000|0.465000|0.465000	0.32709|0.32709|0.32709	9.558000|9.558000|9.558000	0.98132|0.98132|0.98132	2.452000|2.452000|2.452000	0.82932|0.82932|0.82932	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAC|CCA|ACC		0.682	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		28	63	1	0	4.87955e-14	0.005443	5.7823e-14	28	63				
CADM2	253559	broad.mit.edu	37	3	86028411	86028411	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:86028411T>A	ENST00000407528.2	+	8	1103	c.1041T>A	c.(1039-1041)tcT>tcA	p.S347S	CADM2_ENST00000405615.2_Silent_p.S349S|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	347	Thr-rich.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAACCACATCTGCAACAACCA	0.443																																							uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1039-1041)TCT>TCA		immunoglobulin superfamily, member 4D							274.0	250.0	258.0					3																	86028411		2203	4300	6503	SO:0001819	synonymous_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86028411T>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1041T>A	3.37:g.86028411T>A						CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Silent_p.S349S	p.S347S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1667	+		Lung NSC(201;0.0148)	347			Thr-rich.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	c.1041T>A	CCDS54614.1																																																																																				0.443	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		91	192	0	0	0	0.00361	0	91	192				
VGLL3	389136	broad.mit.edu	37	3	87017950	87017950	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:87017950G>C	ENST00000398399.2	-	3	1090	c.727C>G	c.(727-729)Cat>Gat	p.H243D	VGLL3_ENST00000383698.3_Missense_Mutation_p.H243D	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tggtgatgatggtggcggtgg	0.597																																							uc003dqn.2		NA																	0					0						c.(727-729)CAT>GAT		colon carcinoma related protein							56.0	60.0	59.0					3																	87017950		2179	4279	6458	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017950G>C	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.727C>G	3.37:g.87017950G>C	ENSP00000381436:p.His243Asp						p.H243D	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1091	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	243			His-rich.			Missense_Mutation	SNP	ENST00000398399.2	37	c.727C>G	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.51|11.51	1.659618|1.659618	0.29515|0.29515	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000398399;ENST00000383698|ENST00000494229	T;T|.	0.41758|.	0.99;0.99|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.536022|.	0.18512|.	N|.	0.139022|.	T|T	0.26484|0.26484	0.0647|0.0647	N|N	0.08118|0.08118	0|0	0.28705|0.28705	N|N	0.903865|0.903865	D|.	0.53885|.	0.963|.	P|.	0.46796|.	0.527|.	T|T	0.09796|0.09796	-1.0658|-1.0658	10|5	0.18710|.	T|.	0.47|.	-10.0761|-10.0761	12.422|12.422	0.55525|0.55525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243|.	A8MV65|.	VGLL3_HUMAN|.	D|R	243|176	ENSP00000381436:H243D;ENSP00000373199:H243D|.	ENSP00000373199:H243D|.	H|P	-|-	1|2	0|0	VGLL3|VGLL3	87100640|87100640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.412000|0.412000	0.31113|0.31113	2.848000|2.848000	0.48278|0.48278	2.659000|2.659000	0.90383|0.90383	0.313000|0.313000	0.20887|0.20887	CAT|CCA		0.597	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		27	49	0	0	0	0.003954	0	27	49				
FILIP1L	11259	broad.mit.edu	37	3	99568743	99568743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:99568743G>A	ENST00000354552.3	-	5	2247	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q353*|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q353*|FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.Q593*|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q169*|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	593						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCCAATGATTGAAGCCTATTT	0.323																																							uc003dtm.2		NA																	0				ovary(1)	1						c.(1777-1779)CAA>TAA		filamin A interacting protein 1-like isoform 1							102.0	97.0	98.0					3																	99568743		1828	4086	5914	SO:0001587	stop_gained	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568743G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1777C>T	3.37:g.99568743G>A	ENSP00000346560:p.Gln593*					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.Q593*|FILIP1L_uc010hpf.2_Nonsense_Mutation_p.Q169*|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.Q353*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.Q353*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.Q353*	p.Q593*	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	2240	-			593			Potential.		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	ENST00000354552.3	37	c.1777C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632347	0.67015	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.79	5.79	0.91817	.	0.000000	0.47093	D	0.000244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-12.9701	20.0417	0.97594	0.0:0.0:1.0:0.0	.	.	.	.	X	593;169;353;593;353;339;353	.	ENSP00000327880:Q593X	Q	-	1	0	FILIP1L	101051433	1.000000	0.71417	0.991000	0.47740	0.304000	0.27724	7.757000	0.85209	2.736000	0.93811	0.655000	0.94253	CAA		0.323	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		4	156	0	0	0	0.009096	0	4	156				
TOMM70A	9868	broad.mit.edu	37	3	100105689	100105689	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:100105689G>C	ENST00000284320.5	-	2	906	c.458C>G	c.(457-459)tCt>tGt	p.S153C		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	153					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATAAAATGTAGAAAGGTCAAC	0.348																																							uc003dtw.2		NA																	0				ovary(1)	1						c.(457-459)TCT>TGT		translocase of outer mitochondrial membrane 70							124.0	122.0	123.0					3																	100105689		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105689G>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.458C>G	3.37:g.100105689G>C	ENSP00000284320:p.Ser153Cys						p.S153C	NM_014820	NP_055635	O94826	TOM70_HUMAN			2	890	-			153			Cytoplasmic (Potential).|TPR 2.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.458C>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698869	0.88830	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.74842	-0.88	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.094661	0.85682	D	0.000000	D	0.88284	0.6395	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.88473	0.3063	10	0.62326	D	0.03	-3.8928	20.3626	0.98863	0.0:0.0:1.0:0.0	.	153	O94826	TOM70_HUMAN	C	153;46	ENSP00000284320:S153C	ENSP00000284320:S153C	S	-	2	0	TOMM70A	101588379	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.182000	0.94881	2.885000	0.99019	0.655000	0.94253	TCT		0.348	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			4	78	0	0	0	0.009096	0	4	78				
ABI3BP	25890	broad.mit.edu	37	3	100511545	100511545	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:100511545C>G	ENST00000284322.5	-	23	2065	c.1956G>C	c.(1954-1956)aaG>aaC	p.K652N	ABI3BP_ENST00000471714.1_Missense_Mutation_p.K1329N|ABI3BP_ENST00000383691.4_Missense_Mutation_p.K606N	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	652	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTGAGTTGTCTTTGCTAGTT	0.368																																							uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1954-1956)AAG>AAC		ABI gene family, member 3 (NESH) binding protein							248.0	234.0	239.0					3																	100511545		1848	4083	5931	SO:0001583	missense	25890					extracellular space		g.chr3:100511545C>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1956G>C	3.37:g.100511545C>G	ENSP00000284322:p.Lys652Asn					ABI3BP_uc003duj.2_Missense_Mutation_p.K207N|ABI3BP_uc003duk.2_Missense_Mutation_p.K336N|ABI3BP_uc003dul.2_Missense_Mutation_p.K457N|ABI3BP_uc011bhd.1_Missense_Mutation_p.K606N|ABI3BP_uc003dum.2_Missense_Mutation_p.K38N	p.K652N	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			23	2041	-			652			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1956G>C	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.79|18.79|18.79	3.699263|3.699263|3.699263	0.68501|0.68501|0.68501	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000497395|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691|ENST00000495591;ENST00000471901	.|T;T;T|.	.|0.60548|.	.|2.02;0.18;1.53|.	6.03|6.03|6.03	6.03|6.03|6.03	0.97812|0.97812|0.97812	.|.|.	.|0.260846|.	.|0.37348|.	.|N|.	.|0.002132|.	T|T|T	0.62490|0.62490|0.62490	0.2432|0.2432|0.2432	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.32287|0.32287|0.32287	N|N|N	0.566811|0.566811|0.566811	.|D;D;D;D|.	.|0.89917|.	.|1.0;0.999;0.997;0.999|.	.|D;D;D;D|.	.|0.69142|.	.|0.959;0.948;0.918;0.962|.	T|T|T	0.66783|0.66783|0.66783	-0.5836|-0.5836|-0.5836	5|10|5	.|0.39692|.	.|T|.	.|0.17|.	-4.4984|-4.4984|-4.4984	16.0597|16.0597|16.0597	0.80832|0.80832|0.80832	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|606;652;1329;336|.	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.|.;TARSH_HUMAN;.;.|.	H|N|T	68|1329;652;336;38;606|708;232	.|ENSP00000420524:K1329N;ENSP00000284322:K652N;ENSP00000373189:K606N|.	.|ENSP00000284322:K652N|.	D|K|R	-|-|-	1|3|2	0|2|0	ABI3BP|ABI3BP|ABI3BP	101994235|101994235|101994235	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.732000|0.732000|0.732000	0.41865|0.41865|0.41865	2.347000|2.347000|2.347000	0.44036|0.44036|0.44036	2.868000|2.868000|2.868000	0.98415|0.98415|0.98415	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|AAG|AGA		0.368	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			5	75	0	0	0	0.000602	0	5	75				
ZPLD1	131368	broad.mit.edu	37	3	102196379	102196379	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:102196379C>T	ENST00000491959.1	+	18	2047	c.1165C>T	c.(1165-1167)Ctt>Ttt	p.L389F	ZPLD1_ENST00000466937.1_Missense_Mutation_p.L389F|ZPLD1_ENST00000306176.1_Missense_Mutation_p.L405F			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	389						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTTCTCTTCTTCTGTGCTC	0.483																																							uc003dvs.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1165-1167)CTT>TTT		zona pellucida-like domain containing 1							193.0	186.0	188.0					3																	102196379		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102196379C>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1165C>T	3.37:g.102196379C>T	ENSP00000420265:p.Leu389Phe					ZPLD1_uc003dvt.1_Missense_Mutation_p.L405F|ZPLD1_uc011bhg.1_Missense_Mutation_p.L389F	p.L389F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			18	2047	+			389			Helical; (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.1165C>T		.	.	.	.	.	.	.	.	.	.	C	4.755	0.140389	0.09083	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.80824	-1.42;-1.41;-1.42	5.97	5.09	0.68999	.	0.209202	0.50627	D	0.000105	T	0.48484	0.1502	N	0.01168	-0.975	0.41177	D	0.986202	B;B	0.14805	0.011;0.0	B;B	0.14023	0.01;0.002	T	0.53549	-0.8423	10	0.10111	T	0.7	-1.0957	5.7612	0.18201	0.0:0.7463:0.0:0.2537	.	405;389	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	F	389;405;389	ENSP00000420265:L389F;ENSP00000307801:L405F;ENSP00000418253:L389F	ENSP00000307801:L405F	L	+	1	0	ZPLD1	103679069	1.000000	0.71417	0.999000	0.59377	0.350000	0.29205	4.268000	0.58883	2.831000	0.97527	0.655000	0.94253	CTT		0.483	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		141	184	0	0	0	0.00361	0	141	184				
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313																																							uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(871-873)TGC>TTC		DAZ interacting protein 3, zinc finger							70.0	75.0	74.0					3																	108353773		2201	4295	6496	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353773G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.872G>T	3.37:g.108353773G>T	ENSP00000355028:p.Cys291Phe					DZIP3_uc003dxf.1_Missense_Mutation_p.C291F|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.C291F|DZIP3_uc003dxg.1_Missense_Mutation_p.C14F	p.C291F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			10	1294	+			291					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.872G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274390	0.59649	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000024	T	0.49201	0.1543	N	0.19112	0.55	0.41908	D	0.990454	D;P	0.76494	0.999;0.481	D;B	0.83275	0.996;0.355	T	0.54057	-0.8350	10	0.87932	D	0	-9.4169	13.8419	0.63444	0.0:0.0:1.0:0.0	.	291;291	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	291	ENSP00000355028:C291F;ENSP00000418115:C291F;ENSP00000419981:C291F	ENSP00000355028:C291F	C	+	2	0	DZIP3	109836463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	TGC		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		34	90	1	0	5.71845e-15	0.005524	6.88462e-15	34	90				
GAP43	2596	broad.mit.edu	37	3	115395427	115395428	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:115395427_115395428GG>TC	ENST00000305124.6	+	2	964_965	c.598_599GG>TC	c.(598-600)GGg>TCg	p.G200S	GAP43_ENST00000393780.3_Missense_Mutation_p.G236S	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	200					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AACGGAGACTGGGGAGAGCAGC	0.609																																							uc003ebq.2		NA																	0				ovary(1)	1						c.(598-600)GGG>TCG		growth associated protein 43 isoform 2																																				SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395427_115395428GG>TC		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	Exception_encountered	3.37:g.115395427_115395428delinsTC	ENSP00000305010:p.Gly200Ser					GAP43_uc003ebr.2_Missense_Mutation_p.G236S	p.G200S	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	984_985	+			200					A8K0Y4	Missense_Mutation	DNP	ENST00000305124.6	37	c.598_599GG>TC	CCDS33830.1																																																																																				0.609	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		6	28	0	0	0	0.004672	0	6	28				
STXBP5L	9515	broad.mit.edu	37	3	120764291	120764291	+	Missense_Mutation	SNP	G	G	A	rs538396189	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:120764291G>A	ENST00000273666.6	+	5	650	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V127I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	127					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGGTGCCTTGGTCAGTGCAAG	0.353													G|||	2	0.000399361	0.0	0.0	5008	,	,		17610	0.002		0.0	False		,,,				2504	0.0						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(379-381)GTC>ATC		syntaxin binding protein 5-like							171.0	165.0	167.0					3																	120764291		1846	4086	5932	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120764291G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.379G>A	3.37:g.120764291G>A	ENSP00000273666:p.Val127Ile					STXBP5L_uc011bji.1_Missense_Mutation_p.V127I	p.V127I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	5	519	+			127			WD 2.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.379G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148782	0.78001	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.55760	0.5;1.54;0.5;0.5;1.54;0.51;1.54	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	L	0.54965	1.715	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	T	0.62784	-0.6781	10	0.29301	T	0.29	-35.66	18.2281	0.89924	0.0:0.0:1.0:0.0	.	127;127	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	127	ENSP00000273666:V127I;ENSP00000420019:V127I;ENSP00000419627:V127I;ENSP00000420287:V127I;ENSP00000420666:V127I;ENSP00000419404:V127I;ENSP00000420167:V127I	ENSP00000273666:V127I	V	+	1	0	STXBP5L	122246981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.791000	0.91849	2.543000	0.85770	0.655000	0.94253	GTC		0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			12	272	0	0	0	0.004007	0	12	272				
CASR	846	broad.mit.edu	37	3	122002903	122002903	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:122002903G>T	ENST00000490131.1	+	7	2474	c.2102G>T	c.(2101-2103)cGt>cTt	p.R701L	CASR_ENST00000498619.1_Missense_Mutation_p.R711L|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R701L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	701					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAACCAACCGTGTCCTCCTG	0.602																																							uc003eev.3		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2101-2103)CGT>CTT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						75.0	68.0	70.0					3																	122002903		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002903G>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2102G>T	3.37:g.122002903G>T	ENSP00000418685:p.Arg701Leu					CASR_uc003eew.3_Missense_Mutation_p.R711L	p.R701L	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2474	+			701			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2102G>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488335	0.44249	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90133	-2.62;-2.62;-2.62	6.04	5.16	0.70880	GPCR, family 3, C-terminal (2);	0.093907	0.64402	D	0.000001	D	0.91338	0.7268	L	0.56396	1.775	0.58432	D	0.999998	P;P	0.45283	0.808;0.855	P;P	0.50537	0.572;0.643	D	0.89888	0.4035	10	0.32370	T	0.25	.	14.2887	0.66263	0.0708:0.0:0.9292:0.0	.	711;701	E7ENE0;P41180	.;CASR_HUMAN	L	701;711;701	ENSP00000418685:R701L;ENSP00000420194:R711L;ENSP00000296154:R701L	ENSP00000296154:R701L	R	+	2	0	CASR	123485593	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	6.706000	0.74649	1.557000	0.49525	0.561000	0.74099	CGT		0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		25	73	1	0	5.45024e-15	0.00333	6.56978e-15	25	73				
UMPS	7372	broad.mit.edu	37	3	124456947	124456947	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:124456947G>C	ENST00000232607.2	+	3	949	c.843G>C	c.(841-843)aaG>aaC	p.K281N	UMPS_ENST00000538242.1_Missense_Mutation_p.K103N|UMPS_ENST00000536109.1_Missense_Mutation_p.K189N|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_Missense_Mutation_p.K103N	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	281	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GCATGCTGAAGACTCATGTAG	0.413																																							uc003ehl.3		NA																	0				kidney(1)	1						c.(841-843)AAG>AAC		uridine monophosphate synthase							126.0	120.0	122.0					3																	124456947		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124456947G>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.843G>C	3.37:g.124456947G>C	ENSP00000232607:p.Lys281Asn					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.K103N|UMPS_uc011bkb.1_Missense_Mutation_p.K189N|UMPS_uc011bkc.1_Missense_Mutation_p.K103N|UMPS_uc003ehn.3_Missense_Mutation_p.K103N|UMPS_uc011bkd.1_Missense_Mutation_p.K103N	p.K281N	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	3	949	+			281			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.843G>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500330	0.64298	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.33	3.1	0.35709	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.047303	0.85682	D	0.000000	D	0.91402	0.7287	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90157	0.4225	10	0.87932	D	0	-20.4613	7.9362	0.29931	0.2964:0.0:0.7036:0.0	.	103;103;281	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	N	281;189;103;103	ENSP00000232607:K281N;ENSP00000443577:K189N;ENSP00000444988:K103N;ENSP00000397965:K103N	ENSP00000232607:K281N	K	+	3	2	UMPS	125939637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.291000	0.43540	0.504000	0.28082	0.655000	0.94253	AAG		0.413	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		28	83	0	0	0	0.005443	0	28	83				
CCDC37	348807	broad.mit.edu	37	3	126132992	126132992	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:126132992C>G	ENST00000352312.1	+	4	294	c.195C>G	c.(193-195)ctC>ctG	p.L65L	CCDC37_ENST00000393425.1_Silent_p.L65L|CCDC37_ENST00000510833.1_Silent_p.L65L|CCDC37_ENST00000505024.1_Silent_p.L65L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	65										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCTTCTTGCTCAGAGATCAGG	0.567																																							uc003eiu.1		NA																	0				ovary(1)|skin(1)	2						c.(193-195)CTC>CTG		coiled-coil domain containing 37							230.0	229.0	230.0					3																	126132992		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126132992C>G	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.195C>G	3.37:g.126132992C>G						CCDC37_uc010hsg.1_Silent_p.L65L	p.L65L	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	4	294	+			65					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.195C>G	CCDS3037.1																																																																																				0.567	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		16	398	0	0	0	0.006122	0	16	398				
CCDC37	348807	broad.mit.edu	37	3	126133017	126133017	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:126133017C>G	ENST00000352312.1	+	4	319	c.220C>G	c.(220-222)Ctc>Gtc	p.L74V	CCDC37_ENST00000393425.1_Missense_Mutation_p.L74V|CCDC37_ENST00000510833.1_Missense_Mutation_p.L74V|CCDC37_ENST00000505024.1_Missense_Mutation_p.L74V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	74										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAATAAGGCTCTCTCCGTGAG	0.552																																							uc003eiu.1		NA																	0				ovary(1)|skin(1)	2						c.(220-222)CTC>GTC		coiled-coil domain containing 37							172.0	169.0	170.0					3																	126133017		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126133017C>G	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.220C>G	3.37:g.126133017C>G	ENSP00000344749:p.Leu74Val					CCDC37_uc010hsg.1_Missense_Mutation_p.L74V	p.L74V	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	4	319	+			74					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.220C>G	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	C	4.812	0.150912	0.09185	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000510833;ENST00000505024	T;T;T	0.32023	1.47;1.48;1.48	4.6	1.4	0.22301	.	1.732920	0.03282	N	0.186302	T	0.27663	0.0680	L	0.47716	1.5	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.14811	-1.0459	10	0.30854	T	0.27	-0.6683	4.8049	0.13316	0.4534:0.4266:0.0:0.12	.	74;74	Q494V2-2;Q494V2	.;CCD37_HUMAN	V	74	ENSP00000344749:L74V;ENSP00000377076:L74V;ENSP00000423046:L74V	ENSP00000344749:L74V	L	+	1	0	CCDC37	127615707	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	0.314000	0.19432	0.125000	0.18397	-0.302000	0.09304	CTC		0.552	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		57	236	0	0	0	0.00361	0	57	236				
EFCAB12	90288	broad.mit.edu	37	3	129137199	129137199	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:129137199G>A	ENST00000505956.1	-	3	741	c.579C>T	c.(577-579)taC>taT	p.Y193Y	EFCAB12_ENST00000326085.3_Silent_p.Y193Y	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	193							calcium ion binding (GO:0005509)										GGCTATGCAGGTAGGAGTACA	0.597																																							uc003emg.2		NA																	0					NA						c.(577-579)TAC>TAT		hypothetical protein LOC90288							50.0	46.0	48.0					3																	129137199		1935	4121	6056	SO:0001819	synonymous_variant	0							g.chr3:129137199G>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.579C>T	3.37:g.129137199G>A							p.Y193Y	NM_207307	NP_997190					3	742	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.579C>T	CCDS54638.1																																																																																				0.597	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		11	29	0	0	0	0.008291	0	11	29				
TRH	7200	broad.mit.edu	37	3	129695884	129695884	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:129695884G>A	ENST00000302649.3	+	3	1081	c.554G>A	c.(553-555)cGc>cAc	p.R185H	TRH_ENST00000507066.1_Missense_Mutation_p.R181H	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	185					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGAAAAACGCCAGCATCCG	0.627																																					Esophageal Squamous(60;321 1330 17401 41911)	Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2		NA																	0				ovary(1)	1						c.(553-555)CGC>CAC		thyrotropin-releasing hormone							29.0	32.0	31.0					3																	129695884		2203	4299	6502	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695884G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.554G>A	3.37:g.129695884G>A	ENSP00000303452:p.Arg185His						p.R185H	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1115	+			185					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.554G>A	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284496	0.40394	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.65178	-0.14;-0.14	4.65	3.77	0.43336	.	0.052181	0.85682	D	0.000000	T	0.76435	0.3987	M	0.77486	2.375	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.78193	-0.2299	10	0.87932	D	0	-15.6112	9.433	0.38622	0.1018:0.0:0.8982:0.0	.	185	P20396	TRH_HUMAN	H	185;181	ENSP00000303452:R185H;ENSP00000426522:R181H	ENSP00000303452:R185H	R	+	2	0	TRH	131178574	1.000000	0.71417	0.999000	0.59377	0.036000	0.12997	1.974000	0.40559	1.276000	0.44395	0.655000	0.94253	CGC		0.627	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		33	53	0	0	0	0.003755	0	33	53				
IGSF10	285313	broad.mit.edu	37	3	151163029	151163029	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:151163029G>A	ENST00000282466.3	-	4	4739	c.4740C>T	c.(4738-4740)taC>taT	p.Y1580Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1580					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAATTTCTGAGTATGGTTTGT	0.433																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4738-4740)TAC>TAT		immunoglobulin superfamily, member 10 precursor							163.0	160.0	161.0					3																	151163029		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163029G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4740C>T	3.37:g.151163029G>A							p.Y1580Y	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4740	-			1580					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.4740C>T	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		10	214	0	0	0	0.006214	0	10	214				
PLCH1	23007	broad.mit.edu	37	3	155303979	155303979	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:155303979C>A	ENST00000340059.7	-	4	438	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	PLCH1_ENST00000494598.1_Missense_Mutation_p.V147L|PLCH1_ENST00000460012.1_Missense_Mutation_p.V129L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V129L|PLCH1_ENST00000447496.2_Missense_Mutation_p.V147L|PLCH1_ENST00000334686.6_Missense_Mutation_p.V129L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	147	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGCTTCACCCATGTGCAG	0.408																																							uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(439-441)GTG>TTG		phospholipase C eta 1 isoform a							106.0	98.0	101.0					3																	155303979		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155303979C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.439G>T	3.37:g.155303979C>A	ENSP00000345988:p.Val147Leu					PLCH1_uc011boj.1_Missense_Mutation_p.V147L|PLCH1_uc011bol.1_Missense_Mutation_p.V129L	p.V147L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	716	-			147			EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.439G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	4.331	0.060765	0.08339	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	5.5	4.62	0.57501	EF-hand-like domain (1);	5.848040	0.00166	N	0.000000	T	0.18045	0.0433	N	0.00453	-1.485	0.40803	D	0.983351	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.41106	-0.9527	10	0.02654	T	1	.	16.3586	0.83245	0.0:0.8679:0.1321:0.0	.	129;147;147	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	147;129;147;147;129;129	ENSP00000419100:V147L;ENSP00000417502:V129L;ENSP00000402759:V147L;ENSP00000345988:V147L;ENSP00000335469:V129L;ENSP00000412977:V129L	ENSP00000335469:V129L	V	-	1	0	PLCH1	156786673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.013000	0.29937	1.306000	0.44926	0.650000	0.86243	GTG		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		51	76	1	0	2.76378e-25	0.00361	3.72048e-25	51	76				
SHOX2	6474	broad.mit.edu	37	3	157820646	157820646	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:157820646C>A	ENST00000425436.3	-	2	401	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D126Y|RSRC1_ENST00000480820.1_5'Flank|SHOX2_ENST00000389589.4_Missense_Mutation_p.D150Y|SHOX2_ENST00000441443.2_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	126					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTTTCGCATCCTCTTTGCGA	0.572																																							uc003fbr.2		NA																	0					0						c.(376-378)GAT>TAT		short stature homeobox 2 isoform a							149.0	126.0	133.0					3																	157820646		2203	4300	6503	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820646C>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.376G>T	3.37:g.157820646C>A	ENSP00000398704:p.Asp126Tyr					SHOX2_uc003fbs.2_Missense_Mutation_p.D150Y|SHOX2_uc010hvw.2_Missense_Mutation_p.D126Y	p.D126Y	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	515	-			126					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.376G>T	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.258685|5.258685	0.95368|0.95368	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000389589;ENST00000483851|ENST00000555977	T;D;D|.	0.94046|.	1.45;-3.34;-3.34|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Homeodomain-related (1);|.	0.144292|.	0.45361|.	D|.	0.000380|.	T|T	0.65821|0.65821	0.2728|0.2728	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.982;0.997;0.972|.	P;D;P|.	0.68192|.	0.875;0.956;0.804|.	T|T	0.60757|0.60757	-0.7200|-0.7200	10|5	0.72032|.	D|.	0.01|.	.|.	19.3186|19.3186	0.94226|0.94226	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	126;150;126|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	Y|V	150;126;126|29	ENSP00000398704:D150Y;ENSP00000374240:D126Y;ENSP00000419362:D126Y|.	ENSP00000374240:D126Y|.	D|G	-|-	1|2	0|0	SHOX2;AC112502.1|SHOX2	159303340|159303340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.783000|7.783000	0.85696|0.85696	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	GAT|GGA		0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			42	115	1	0	7.05121e-23	0.010771	9.30039e-23	42	115				
SI	6476	broad.mit.edu	37	3	164757711	164757711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:164757711C>T	ENST00000264382.3	-	19	2270	c.2208G>A	c.(2206-2208)tgG>tgA	p.W736*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	736	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATGCAGGGCCCCACAAAAACT	0.338										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2206-2208)TGG>TGA		sucrase-isomaltase	Acarbose(DB00284)						121.0	126.0	124.0					3																	164757711		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757711C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2208G>A	3.37:g.164757711C>T	ENSP00000264382:p.Trp736*	HNSCC(35;0.089)					p.W736*	NM_001041	NP_001032	P14410	SUIS_HUMAN			19	2270	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	736			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.2208G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	39	7.792410	0.98492	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7416	0.88408	0.0:1.0:0.0:0.0	.	.	.	.	X	736	.	ENSP00000264382:W736X	W	-	3	0	SI	166240405	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.238000	0.72350	2.498000	0.84270	0.644000	0.83932	TGG		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	218	0	0	0	0.001168	0	4	218				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	98	0	0	0	0.000602	0	5	98				
CCDC39	339829	broad.mit.edu	37	3	180364997	180364997	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:180364997G>A	ENST00000442201.2	-	11	1516	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	CCDC39_ENST00000273654.4_Missense_Mutation_p.S550L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	466					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTAACCGTGACATTCTCCG	0.318																																							uc010hxe.2		NA																	0				ovary(4)	4						c.(1396-1398)TCA>TTA		coiled-coil domain containing 39							85.0	73.0	76.0					3																	180364997		1781	4058	5839	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180364997G>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1397C>T	3.37:g.180364997G>A	ENSP00000405708:p.Ser466Leu					CCDC39_uc003fkn.2_RNA	p.S466L	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		11	1512	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		466			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1397C>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332667	0.81801	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.23552	1.9;1.9	5.41	5.41	0.78517	.	0.225304	0.38778	N	0.001577	T	0.28632	0.0709	L	0.49126	1.545	0.46279	D	0.998963	P	0.42649	0.786	B	0.38954	0.286	T	0.02975	-1.1087	10	0.45353	T	0.12	-11.0886	19.1905	0.93664	0.0:0.0:1.0:0.0	.	466	Q9UFE4	CCD39_HUMAN	L	550;466	ENSP00000273654:S550L;ENSP00000405708:S466L	ENSP00000273654:S550L	S	-	2	0	CCDC39	181847691	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.103000	0.77014	2.712000	0.92718	0.650000	0.86243	TCA		0.318	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	44	0	0	0	0.001984	0	7	44				
DGKG	1608	broad.mit.edu	37	3	186038239	186038239	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:186038239C>T	ENST00000265022.3	-	2	549	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	DGKG_ENST00000382164.4_Missense_Mutation_p.E4K|DGKG_ENST00000344484.4_Missense_Mutation_p.E4K|DGKG_ENST00000544847.1_Missense_Mutation_p.E4K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	4					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCACCGTTCTTCACCCATT	0.483																																							uc003fqa.2		NA																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(10-12)GAA>AAA		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						132.0	127.0	128.0					3																	186038239		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186038239C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.10G>A	3.37:g.186038239C>T	ENSP00000265022:p.Glu4Lys					DGKG_uc003fqb.2_Missense_Mutation_p.E4K|DGKG_uc003fqc.2_Missense_Mutation_p.E4K|DGKG_uc011brx.1_Missense_Mutation_p.E4K	p.E4K	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	2	547	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		4					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.10G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216046	0.22373	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.04	4.16	0.48862	.	0.639709	0.14651	N	0.306565	T	0.35008	0.0917	L	0.31926	0.97	0.23260	N	0.998025	B;B;B;B	0.18968	0.002;0.002;0.01;0.032	B;B;B;B	0.26094	0.008;0.015;0.025;0.066	T	0.31696	-0.9934	10	0.54805	T	0.06	.	11.4404	0.50094	0.0:0.8189:0.1811:0.0	.	4;4;4;4	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	K	4;4;4;4;7	ENSP00000265022:E4K;ENSP00000339777:E4K;ENSP00000371599:E4K;ENSP00000440507:E4K	ENSP00000265022:E4K	E	-	1	0	DGKG	187520933	0.294000	0.24380	0.739000	0.30968	0.070000	0.16714	1.467000	0.35321	1.327000	0.45338	0.655000	0.94253	GAA		0.483	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			14	100	0	0	0	0.004007	0	14	100				
RFC4	5984	broad.mit.edu	37	3	186508170	186508170	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:186508170C>A	ENST00000392481.2	-	9	1108	c.827G>T	c.(826-828)gGa>gTa	p.G276V	SNORA63_ENST00000363450.1_RNA|RFC4_ENST00000296273.2_Missense_Mutation_p.G276V|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000433496.1_Intron	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	276					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.G276A(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGCAAATACTCCATCAATTTT	0.418																																							uc003fqz.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(826-828)GGA>GTA		replication factor C 4							114.0	115.0	115.0					3																	186508170		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186508170C>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.827G>T	3.37:g.186508170C>A	ENSP00000376272:p.Gly276Val					RFC4_uc011bsc.1_Missense_Mutation_p.G276V	p.G276V	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	9	1050	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		276					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.827G>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498327	0.26861	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.42131	0.98;0.98;0.98	5.32	4.42	0.53409	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.404011	0.31636	N	0.007316	T	0.45013	0.1321	M	0.71036	2.16	0.80722	D	1	B	0.25169	0.119	B	0.31101	0.124	T	0.38542	-0.9656	10	0.34782	T	0.22	.	13.1561	0.59518	0.1611:0.8389:0.0:0.0	.	276	P35249	RFC4_HUMAN	V	276;276;51	ENSP00000376272:G276V;ENSP00000296273:G276V;ENSP00000401429:G51V	ENSP00000296273:G276V	G	-	2	0	RFC4	187990864	0.993000	0.37304	0.716000	0.30569	0.476000	0.33039	2.282000	0.43461	1.309000	0.44985	0.561000	0.74099	GGA		0.418	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		30	63	1	0	5.60225e-13	0.009535	6.56723e-13	30	63				
OSTN	344901	broad.mit.edu	37	3	190936629	190936629	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:190936629G>A	ENST00000339051.1	+	2	196	c.196G>A	c.(196-198)Gat>Aat	p.D66N	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000445281.1_Missense_Mutation_p.D66N	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	66					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CTTGCTTCTTGATGAATTGGT	0.453																																							uc011bsn.1		NA																	0				pancreas(1)|skin(1)	2						c.(196-198)GAT>AAT		osteocrin precursor							146.0	136.0	140.0					3																	190936629		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936629G>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.196G>A	3.37:g.190936629G>A	ENSP00000342356:p.Asp66Asn						p.D66N	NM_198184	NP_937827	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	2	196	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		66					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.196G>A	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890154	0.52014	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.45	3.68	0.42216	.	0.056071	0.64402	N	0.000002	T	0.56934	0.2019	L	0.49350	1.555	0.43054	D	0.994667	B	0.19331	0.035	B	0.28305	0.088	T	0.54503	-0.8284	9	0.51188	T	0.08	-0.203	11.0403	0.47827	0.1503:0.0:0.8497:0.0	.	66	P61366	OSTN_HUMAN	N	66	.	ENSP00000342356:D66N	D	+	1	0	OSTN	192419323	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.521000	0.60532	0.692000	0.31613	0.561000	0.74099	GAT		0.453	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		42	53	0	0	0	0.00623	0	42	53				
TNK2	10188	broad.mit.edu	37	3	195595457	195595457	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:195595457G>A	ENST00000333602.6	-	12	2284	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	TNK2_ENST00000381916.2_Missense_Mutation_p.P634L|TNK2_ENST00000392400.1_Missense_Mutation_p.P556L|TNK2_ENST00000428187.1_Missense_Mutation_p.P588L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	556				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTTGGTGCCCGGCACCCGCGC	0.726																																							uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1666-1668)CCG>CTG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						5.0	5.0	5.0					3																	195595457		1757	3538	5295	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595457G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1667C>T	3.37:g.195595457G>A	ENSP00000329425:p.Pro556Leu					TNK2_uc003fvq.1_5'UTR|TNK2_uc003fvr.1_Missense_Mutation_p.P81L|TNK2_uc003fvs.1_Missense_Mutation_p.P588L|TNK2_uc003fvt.1_Missense_Mutation_p.P634L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	p.P556L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2210	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	556	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1667C>T	CCDS33928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.648|6.648	0.487987|0.487987	0.12641|0.12641	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400|ENST00000424563	T;T;T;T;T|.	0.73681|.	-0.74;-0.77;2.97;-0.77;-0.74|.	4.9|4.9	4.02|4.02	0.46733|0.46733	.|.	0.399693|.	0.24578|.	N|.	0.037331|.	T|T	0.43765|0.43765	0.1262|0.1262	N|N	0.24115|0.24115	0.695|0.695	0.35051|0.35051	D|D	0.760636|0.760636	P;P;P;D|.	0.62365|.	0.896;0.924;0.875;0.991|.	B;B;B;P|.	0.50659|.	0.123;0.185;0.127;0.647|.	T|T	0.52155|0.52155	-0.8613|-0.8613	10|5	0.11182|.	T|.	0.66|.	.|.	11.9013|11.9013	0.52685|0.52685	0.0862:0.0:0.9138:0.0|0.0862:0.0:0.9138:0.0	.|.	556;634;588;81|.	Q07912;Q07912-3;C9J1X3;B3KXJ4|.	ACK1_HUMAN;.;.;.|.	L|W	556;634;123;588;556|166	ENSP00000329425:P556L;ENSP00000371341:P634L;ENSP00000398614:P123L;ENSP00000392546:P588L;ENSP00000376201:P556L|.	ENSP00000329425:P556L|.	P|R	-|-	2|1	0|2	TNK2|TNK2	197079854|197079854	0.902000|0.902000	0.30710|0.30710	0.227000|0.227000	0.23927|0.23927	0.044000|0.044000	0.14063|0.14063	2.126000|2.126000	0.42026|0.42026	1.059000|1.059000	0.40554|0.40554	-0.235000|-0.235000	0.12190|0.12190	CCG|CGG		0.726	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	26	0	0	0	0.009096	0	4	26				
SLC26A1	10861	broad.mit.edu	37	4	984068	984068	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:984068G>T	ENST00000361661.2	-	4	1036	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.S220Y	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	220					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GATGGTCACGGAGGCCCCCAT	0.672																																							uc003gcb.2		NA																	0				skin(1)	1						c.(658-660)TCC>TAC		solute carrier family 26, member 1 isoform a							11.0	16.0	14.0					4																	984068		2174	4275	6449	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:984068G>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.659C>A	4.37:g.984068G>T	ENSP00000354721:p.Ser220Tyr					SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.S220Y	p.S220Y	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	1037	-			220					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.659C>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637931	0.87760	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.93426	-3.22;-3.22	4.82	4.82	0.62117	Sulphate transporter (1);	0.105260	0.64402	D	0.000002	D	0.97151	0.9069	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98055	1.0390	10	0.87932	D	0	.	15.405	0.74871	0.0:0.0:1.0:0.0	.	220	Q9H2B4	S26A1_HUMAN	Y	220	ENSP00000354721:S220Y;ENSP00000381528:S220Y	ENSP00000354721:S220Y	S	-	2	0	SLC26A1	974068	1.000000	0.71417	0.925000	0.36789	0.942000	0.58702	9.711000	0.98735	2.220000	0.72140	0.561000	0.74099	TCC		0.672	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		16	17	1	0	1.15088e-07	0.004007	1.25737e-07	16	17				
CRIPAK	285464	broad.mit.edu	37	4	1389250	1389251	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:1389250_1389251GG>TT	ENST00000324803.4	+	1	3911_3912	c.951_952GG>TT	c.(949-954)atGGag>atTTag	p.317_318ME>I*		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	317					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCATATGGAGTGCCCGCC	0.663																																							uc003gdf.2		NA																	0					0						c.(949-954)ATGGAG>ATTTAG		cysteine-rich PAK1 inhibitor																																				SO:0001587	stop_gained	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389250_1389251GG>TT	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1389250_1389251delinsTT	ENSP00000323978:p.M317_E318delinsI*						p.317_318ME>I*	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3911_3912	+			317_318					Q8NB03	Nonsense_Mutation	DNP	ENST00000324803.4	37	c.951_952GG>TT	CCDS3349.1																																																																																				0.663	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		254	346	0	0	0	0.004672	0	254	346				
POLN	353497	broad.mit.edu	37	4	2130952	2130952	+	Silent	SNP	C	C	A	rs141684891	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:2130952C>A	ENST00000511885.2	-	18	2174	c.1821G>T	c.(1819-1821)ccG>ccT	p.P607P	POLN_ENST00000382865.1_Silent_p.P607P			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	607					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATGGCCCTCGGGGAGATCG	0.403								DNA polymerases (catalytic subunits)																															uc003ger.2		NA																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1819-1821)CCG>CCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							135.0	122.0	126.0					4																	2130952		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130952C>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1821G>T	4.37:g.2130952C>A						POLN_uc010icg.1_Silent_p.P55P|POLN_uc010ich.1_Silent_p.P139P	p.P607P	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1821	-			607					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.1821G>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	4.174	0.030857	0.08101	.	.	ENSG00000130997	ENST00000511098	.	.	.	4.67	-9.34	0.00636	.	.	.	.	.	T	0.36744	0.0978	.	.	.	0.44908	D	0.997928	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	-10.4144	3.9644	0.09424	0.0932:0.1218:0.2785:0.5065	.	.	.	.	L	240	.	.	R	-	2	0	POLN	2100750	0.017000	0.18338	0.005000	0.12908	0.644000	0.38419	-2.168000	0.01270	-2.253000	0.00698	-0.145000	0.13849	CGA		0.403	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		45	55	1	0	8.72198e-27	0.00361	1.19213e-26	45	55				
EVC2	132884	broad.mit.edu	37	4	5633709	5633709	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:5633709C>A	ENST00000344408.5	-	11	1574	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	EVC2_ENST00000310917.2_Missense_Mutation_p.Q427H|EVC2_ENST00000344938.1_Missense_Mutation_p.Q507H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	507					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCAAGTGCTCCTGTTCCAGGC	0.507																																							uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(1519-1521)CAG>CAT		limbin							82.0	80.0	81.0					4																	5633709		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5633709C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1521G>T	4.37:g.5633709C>A	ENSP00000342144:p.Gln507His					EVC2_uc011bwb.1_Translation_Start_Site|EVC2_uc003gik.2_Missense_Mutation_p.Q427H	p.Q507H	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			11	1575	-			507			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1521G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	37	6.055715	0.97241	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80393	-1.37;-1.37;-1.37	4.79	3.95	0.45737	.	0.624103	0.17039	N	0.189419	D	0.87529	0.6200	M	0.68952	2.095	0.41717	D	0.989487	D	0.76494	0.999	D	0.72982	0.979	D	0.87570	0.2477	10	0.66056	D	0.02	-20.6902	12.4304	0.55571	0.0:0.9183:0.0:0.0817	.	507	Q86UK5	LBN_HUMAN	H	507;427;507	ENSP00000339954:Q507H;ENSP00000311683:Q427H;ENSP00000342144:Q507H	ENSP00000311683:Q427H	Q	-	3	2	EVC2	5684610	0.995000	0.38212	0.995000	0.50966	0.023000	0.10783	1.501000	0.35693	1.135000	0.42183	-0.362000	0.07510	CAG		0.507	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		31	81	1	0	6.38683e-12	0.008361	7.42479e-12	31	81				
KIAA0232	9778	broad.mit.edu	37	4	6865424	6865424	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:6865424G>T	ENST00000307659.5	+	7	3770	c.3315G>T	c.(3313-3315)cgG>cgT	p.R1105R	KIAA0232_ENST00000425103.1_Silent_p.R1105R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1105							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCTCTCCTCGGACTCACTTTC	0.458																																							uc003gjr.3		NA																	0				ovary(2)	2						c.(3313-3315)CGG>CGT		hypothetical protein LOC9778							123.0	116.0	118.0					4																	6865424		1886	4117	6003	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6865424G>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3315G>T	4.37:g.6865424G>T						KIAA0232_uc003gjq.3_Silent_p.R1105R	p.R1105R	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	3778	+			1105					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.3315G>T	CCDS43209.1																																																																																				0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		50	79	1	0	1.81118e-26	0.00361	2.4618e-26	50	79				
SORCS2	57537	broad.mit.edu	37	4	7728547	7728547	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:7728547C>T	ENST00000507866.2	+	21	2895	c.2786C>T	c.(2785-2787)tCg>tTg	p.S929L	SORCS2_ENST00000329016.9_Missense_Mutation_p.S757L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	929					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCGGTTTTCGGACACGGGC	0.662																																							uc003gkb.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2785-2787)TCG>TTG		VPS10 domain receptor protein SORCS 2 precursor							90.0	103.0	99.0					4																	7728547		2083	4181	6264	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7728547C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2786C>T	4.37:g.7728547C>T	ENSP00000422185:p.Ser929Leu					SORCS2_uc011bwi.1_Missense_Mutation_p.S757L	p.S929L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			21	2786	+			929			Lumenal (Potential).		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2786C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218489	0.06101	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14766	2.48;2.48	4.25	-1.23	0.09465	.	0.874683	0.09630	N	0.776341	T	0.06872	0.0175	N	0.16368	0.405	0.09310	N	1	B;B	0.18741	0.007;0.03	B;B	0.09377	0.002;0.004	T	0.42799	-0.9430	10	0.21014	T	0.42	.	5.7661	0.18227	0.0:0.5374:0.1324:0.3301	.	757;929	B5MED8;Q96PQ0	.;SORC2_HUMAN	L	929;757	ENSP00000422185:S929L;ENSP00000329124:S757L	ENSP00000329124:S757L	S	+	2	0	SORCS2	7779447	0.290000	0.24343	0.000000	0.03702	0.006000	0.05464	2.880000	0.48530	-0.625000	0.05604	-0.396000	0.06452	TCG		0.662	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	223	0	0	0	0.001984	0	7	223				
CPZ	8532	broad.mit.edu	37	4	8603114	8603114	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:8603114G>C	ENST00000360986.4	+	3	560	c.386G>C	c.(385-387)tGc>tCc	p.C129S	CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000315782.6_Missense_Mutation_p.C118S|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	129	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGGAGGTCTGCCAGCCCGCC	0.687																																							uc003glm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(385-387)TGC>TCC		carboxypeptidase Z isoform 1							24.0	28.0	27.0					4																	8603114		2199	4295	6494	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8603114G>C	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.386G>C	4.37:g.8603114G>C	ENSP00000354255:p.Cys129Ser					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.C118S|CPZ_uc003glp.2_RNA	p.C129S	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	512	+			129			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.386G>C	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925634	0.52759	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	D;D	0.96745	-4.11;-4.11	3.41	3.41	0.39046	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99709	1.1006	10	0.87932	D	0	-40.2392	14.9966	0.71436	0.0:0.0:1.0:0.0	.	118;129	Q66K79-2;Q66K79	.;CBPZ_HUMAN	S	129;118	ENSP00000354255:C129S;ENSP00000315074:C118S	ENSP00000315074:C118S	C	+	2	0	CPZ	8654014	1.000000	0.71417	0.995000	0.50966	0.125000	0.20455	8.510000	0.90532	1.714000	0.51371	0.561000	0.74099	TGC		0.687	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		6	14	0	0	0	0.001168	0	6	14				
BOD1L1	259282	broad.mit.edu	37	4	13606479	13606479	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:13606479C>G	ENST00000040738.5	-	10	2180	c.2045G>C	c.(2044-2046)cGc>cCc	p.R682P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	682	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										AATTTCTGAGCGTTCTACTTG	0.398																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(2044-2046)CGC>CCC		biorientation of chromosomes in cell division							264.0	279.0	274.0					4																	13606479		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13606479C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2045G>C	4.37:g.13606479C>G	ENSP00000040738:p.Arg682Pro					BOD1L_uc010idr.1_Missense_Mutation_p.R19P	p.R682P	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2162	-			682			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2045G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	9.035	0.988142	0.18966	.	.	ENSG00000038219	ENST00000040738	T	0.10573	2.86	5.71	2.64	0.31445	.	0.158511	0.30252	N	0.010050	T	0.14442	0.0349	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.58013	0.831	T	0.03761	-1.1006	10	0.59425	D	0.04	-0.8342	9.5083	0.39060	0.0:0.6476:0.0:0.3524	.	682	Q8NFC6	BOD1L_HUMAN	P	682	ENSP00000040738:R682P	ENSP00000040738:R682P	R	-	2	0	BOD1L	13215577	0.031000	0.19500	0.120000	0.21714	0.034000	0.12701	0.732000	0.26072	0.777000	0.33496	-0.251000	0.11542	CGC		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		218	399	0	0	0	0.00361	0	218	399				
SLIT2	9353	broad.mit.edu	37	4	20530608	20530608	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:20530608G>C	ENST00000504154.1	+	16	1751	c.1499G>C	c.(1498-1500)tGc>tCc	p.C500S	MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000273739.5_Missense_Mutation_p.C504S|SLIT2_ENST00000503837.1_Missense_Mutation_p.C496S|SLIT2_ENST00000503823.1_Missense_Mutation_p.C492S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	500	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTGGAGACTGCTTTGCGGAT	0.388																																							uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1498-1500)TGC>TCC		slit homolog 2 precursor							115.0	117.0	117.0					4																	20530608		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530608G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1499G>C	4.37:g.20530608G>C	ENSP00000422591:p.Cys500Ser					SLIT2_uc003gps.1_Missense_Mutation_p.C492S	p.C500S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			16	1703	+			500			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1499G>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268054	0.80469	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;D;T;T	0.82433	1.99;-1.61;1.99;1.99	5.93	5.93	0.95920	.	0.041385	0.85682	D	0.000000	D	0.87430	0.6175	M	0.78801	2.425	0.80722	D	1	P;P	0.44429	0.835;0.791	P;P	0.45856	0.495;0.463	D	0.88276	0.2933	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	492;500	O94813-3;O94813	.;SLIT2_HUMAN	S	492;500;504;496;496	ENSP00000427548:C492S;ENSP00000422591:C500S;ENSP00000273739:C504S;ENSP00000422261:C496S	ENSP00000273739:C504S	C	+	2	0	SLIT2	20139706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	TGC		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			56	113	0	0	0	0.00361	0	56	113				
PCDH7	5099	broad.mit.edu	37	4	30724649	30724649	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:30724649C>A	ENST00000361762.2	+	1	2613	c.1605C>A	c.(1603-1605)ttC>ttA	p.F535L	PCDH7_ENST00000543491.1_Missense_Mutation_p.F535L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	535	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGCCCATGTTCGGCCAGTCGG	0.622																																							uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1603-1605)TTC>TTA		protocadherin 7 isoform a precursor							55.0	52.0	53.0					4																	30724649		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724649C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1605C>A	4.37:g.30724649C>A	ENSP00000355243:p.Phe535Leu					PCDH7_uc011bxw.1_Missense_Mutation_p.F488L|PCDH7_uc011bxx.1_Missense_Mutation_p.F535L	p.F535L	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2613	+			535			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1605C>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503141	0.44558	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.28895	1.59;1.59	5.37	-4.26	0.03755	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.63498	0.2516	H	0.95365	3.66	0.49299	D	0.999779	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.75608	-0.3259	9	0.87932	D	0	.	15.6135	0.76748	0.0:0.4345:0.0:0.5654	.	535;488;535	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	L	535;535;488	ENSP00000355243:F535L;ENSP00000441802:F535L	ENSP00000330302:F488L	F	+	3	2	PCDH7	30333747	0.242000	0.23868	0.244000	0.24202	0.770000	0.43624	-0.290000	0.08354	-0.814000	0.04352	0.655000	0.94253	TTC		0.622	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		7	63	1	0	0.000442599	0.006214	0.000458023	7	63				
PCDH7	5099	broad.mit.edu	37	4	31144127	31144127	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:31144127G>T	ENST00000543491.1	+	3	3424	c.3424G>T	c.(3424-3426)Ggg>Tgg	p.G1142W				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGCCCTGACTGGGAAGTGCAC	0.507																																							uc011bxx.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3400-3402)GGG>TGG		protocadherin 7 isoform a precursor							105.0	101.0	103.0					4																	31144127		2002	4186	6188	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144127G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3424G>T	4.37:g.31144127G>T	ENSP00000441802:p.Gly1142Trp					PCDH7_uc011bxw.1_Missense_Mutation_p.G1087W	p.G1134W	NM_002589	NP_002580	O60245	PCDH7_HUMAN			3	4408	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3400G>T	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.053438|4.053438	0.75960|0.75960	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	T|.	0.53206|.	0.63|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|.	.|.	.|.	.|.	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.72320|0.72320	-0.4329|-0.4329	9|5	0.87932|.	D|.	0|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1142;1087|.	F5GWJ1;O60245-3|.	.;.|.	W|L	1142;1087|823	ENSP00000441802:G1142W|.	ENSP00000330302:G1087W|.	G|W	+|+	1|2	0|0	PCDH7|PCDH7	30753225|30753225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.416000|9.416000	0.97383|0.97383	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.507	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		75	123	1	0	6.20995e-33	0.00361	8.80717e-33	75	123				
GABRG1	2565	broad.mit.edu	37	4	46125841	46125841	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:46125841C>G	ENST00000295452.4	-	1	257	c.90G>C	c.(88-90)ctG>ctC	p.L30L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	30					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCCAAATGCAGGGTCAGTA	0.418																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(88-90)CTG>CTC		gamma-aminobutyric acid A receptor, gamma 1							72.0	77.0	75.0					4																	46125841		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46125841C>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.90G>C	4.37:g.46125841C>G							p.L30L	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	1	242	-			30					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.90G>C	CCDS3470.1																																																																																				0.418	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		38	62	0	0	0	0.00623	0	38	62				
ATP10D	57205	broad.mit.edu	37	4	47593390	47593390	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:47593390G>A	ENST00000273859.3	+	23	4542	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1425					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E1425>?(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAAGGTAAAGAAAGCTAGAT	0.418																																							uc003gxk.1		NA																	1	Complex(1)		large_intestine(1)	ovary(2)|pancreas(1)	3						c.(4273-4275)GAA>AAA		ATPase, class V, type 10D							69.0	70.0	69.0					4																	47593390		2203	4298	6501	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47593390G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4273G>A	4.37:g.47593390G>A	ENSP00000273859:p.Glu1425Lys					ATP10D_uc003gxl.1_Missense_Mutation_p.E673K	p.E1425K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			23	4437	+			1425			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.4273G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302418	0.40694	.	.	ENSG00000145246	ENST00000273859	T	0.38077	1.16	4.4	-0.855	0.10700	.	3.914390	0.00628	N	0.000470	T	0.21590	0.0520	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23762	-1.0179	10	0.40728	T	0.16	23.2827	8.4213	0.32703	0.6458:0.0:0.3542:0.0	.	1425	Q9P241	AT10D_HUMAN	K	1425	ENSP00000273859:E1425K	ENSP00000273859:E1425K	E	+	1	0	ATP10D	47288147	0.008000	0.16893	0.000000	0.03702	0.023000	0.10783	0.256000	0.18351	-0.063000	0.13065	0.536000	0.68110	GAA		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		32	115	0	0	0	0.012213	0	32	115				
KIAA1211	57482	broad.mit.edu	37	4	57181263	57181263	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:57181263C>T	ENST00000504228.1	+	6	1700	c.1595C>T	c.(1594-1596)aCc>aTc	p.T532I	KIAA1211_ENST00000264229.6_Missense_Mutation_p.T532I|KIAA1211_ENST00000541073.1_Missense_Mutation_p.T525I			Q6ZU35	K1211_HUMAN	KIAA1211	532										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGACAGACCATGCCCCGG	0.647																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(1594-1596)ACC>ATC		hypothetical protein LOC57482							16.0	22.0	20.0					4																	57181263		2075	4207	6282	SO:0001583	missense	57482							g.chr4:57181263C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1595C>T	4.37:g.57181263C>T	ENSP00000423366:p.Thr532Ile					KIAA1211_uc010iha.2_Missense_Mutation_p.T525I|KIAA1211_uc011bzz.1_Missense_Mutation_p.T442I|KIAA1211_uc003hbm.1_Missense_Mutation_p.T418I	p.T532I	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1986	+	Glioma(25;0.08)|all_neural(26;0.101)		532					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1595C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559980	0.65538	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02258	4.37;4.37;4.37	4.77	0.427	0.16489	.	.	.	.	.	T	0.06600	0.0169	L	0.56769	1.78	0.30102	N	0.807385	D;D;D	0.59767	0.986;0.986;0.982	P;P;P	0.56612	0.76;0.76;0.802	T	0.12604	-1.0541	9	0.87932	D	0	-13.4933	10.8584	0.46812	0.0:0.4317:0.4924:0.0759	.	525;525;532	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	I	532;532;525;442	ENSP00000264229:T532I;ENSP00000423366:T532I;ENSP00000444006:T525I	ENSP00000264229:T532I	T	+	2	0	KIAA1211	56876020	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	0.664000	0.25068	0.392000	0.25172	-0.264000	0.10439	ACC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		22	26	0	0	0	0.003954	0	22	26				
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	T	rs372785017		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:62813870G>T	ENST00000514591.1	+	16	2806	c.2477G>T	c.(2476-2478)cGt>cTt	p.R826L	LPHN3_ENST00000507164.1_Missense_Mutation_p.R894L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826L|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894L|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	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)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383																																							uc010ihh.2		NA																	3	Substitution - Missense(3)		prostate(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2476-2478)CGT>CTT		latrophilin 3 precursor							88.0	78.0	81.0					4																	62813870		1875	4106	5981	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813870G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2477G>T	4.37:g.62813870G>T	ENSP00000422533:p.Arg826Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.R826L|LPHN3_uc003hct.2_Missense_Mutation_p.R219L	p.R826L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			14	2650	+			813			GPS.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2477G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972210	0.74246	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.47;-0.47;-0.48;-0.47;-0.47;-0.47;-0.47;-0.48;-0.48;-0.47;-0.47;-0.49;-0.5;-0.49;-0.48	5.98	5.98	0.97165	GPS domain (3);	0.113991	0.53938	D	0.000055	T	0.74107	0.3673	L	0.39514	1.22	0.45439	D	0.998419	P;P;P	0.52842	0.956;0.956;0.904	P;P;B	0.51385	0.668;0.668;0.441	T	0.73254	-0.4041	10	0.49607	T	0.09	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	826;813;826	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	L	826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	ENSP00000423388:R826L;ENSP00000422533:R826L;ENSP00000423787:R894L;ENSP00000425033:R894L;ENSP00000424120:R826L;ENSP00000439831:R826L;ENSP00000421476:R894L;ENSP00000424030:R894L;ENSP00000421372:R894L;ENSP00000425201:R826L;ENSP00000423434:R826L;ENSP00000421627:R826L;ENSP00000420931:R894L;ENSP00000425884:R894L;ENSP00000424258:R826L	ENSP00000280009:R826L	R	+	2	0	LPHN3	62496465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.479000	0.53165	2.861000	0.98227	0.650000	0.86243	CGT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	37	1	0	7.48243e-07	0.006214	8.12047e-07	10	37				
EPHA5	2044	broad.mit.edu	37	4	66231705	66231705	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:66231705T>A	ENST00000273854.3	-	11	2595	c.1995A>T	c.(1993-1995)gaA>gaT	p.E665D	EPHA5_ENST00000511294.1_Missense_Mutation_p.E666D|EPHA5_ENST00000432638.2_Missense_Mutation_p.E502D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E643D	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	665					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTTAGCAAATTCGTGGACAG	0.358										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1993-1995)GAA>GAT		ephrin receptor EphA5 isoform a precursor							230.0	184.0	200.0					4																	66231705		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66231705T>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1995A>T	4.37:g.66231705T>A	ENSP00000273854:p.Glu665Asp	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E597D|EPHA5_uc003hcz.2_Missense_Mutation_p.E643D|EPHA5_uc011cah.1_Missense_Mutation_p.E666D|EPHA5_uc011cai.1_Missense_Mutation_p.E644D|EPHA5_uc003hda.2_Missense_Mutation_p.E666D	p.E665D	NM_004439	NP_004430	P54756	EPHA5_HUMAN			11	2188	-			665			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1995A>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655640	0.47467	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.54	3.1	0.35709	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000017	T	0.12092	0.0294	L	0.45352	1.415	0.40145	D	0.976886	P;B;P;B	0.41159	0.623;0.005;0.74;0.001	B;B;B;B	0.32928	0.074;0.004;0.155;0.001	T	0.07481	-1.0770	10	0.46703	T	0.11	.	8.7845	0.34811	0.0:0.2355:0.0:0.7645	.	644;666;643;665	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	D	665;502;643;666	ENSP00000273854:E665D;ENSP00000389208:E502D;ENSP00000346899:E643D;ENSP00000427638:E666D	ENSP00000273854:E665D	E	-	3	2	EPHA5	65914300	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.464000	0.21988	0.398000	0.25338	0.455000	0.32223	GAA		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		35	115	0	0	0	0.005524	0	35	115				
STAP1	26228	broad.mit.edu	37	4	68441185	68441185	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68441185T>A	ENST00000265404.2	+	3	357	c.275T>A	c.(274-276)cTt>cAt	p.L92H	STAP1_ENST00000396225.1_Missense_Mutation_p.L92H	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAATTCACCCTTGTTTTGCCG	0.403																																							uc003hde.3		NA																	0					0						c.(274-276)CTT>CAT		signal transducing adaptor family member 1							120.0	113.0	115.0					4																	68441185		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68441185T>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.275T>A	4.37:g.68441185T>A	ENSP00000265404:p.Leu92His					STAP1_uc003hdf.2_Missense_Mutation_p.L92H	p.L92H	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			3	357	+			92			PH.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.275T>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109784	0.77096	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.42900	0.96;0.96	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.64125	0.2570	M	0.79258	2.445	0.46478	D	0.999064	D	0.89917	1.0	D	0.87578	0.998	T	0.68610	-0.5363	10	0.87932	D	0	-10.0087	11.9283	0.52833	0.0:0.0:0.0:1.0	.	92	Q9ULZ2	STAP1_HUMAN	H	92	ENSP00000265404:L92H;ENSP00000379527:L92H	ENSP00000265404:L92H	L	+	2	0	STAP1	68123780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.075000	0.57584	2.120000	0.65058	0.533000	0.62120	CTT		0.403	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		10	53	0	0	0	0.008291	0	10	53				
STAP1	26228	broad.mit.edu	37	4	68459051	68459051	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68459051T>C	ENST00000265404.2	+	8	885	c.803T>C	c.(802-804)aTa>aCa	p.I268T	STAP1_ENST00000396225.1_Missense_Mutation_p.I268T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	268	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGACCATTTATATGTTCAACT	0.333																																							uc003hde.3		NA																	0					0						c.(802-804)ATA>ACA		signal transducing adaptor family member 1							148.0	148.0	148.0					4																	68459051		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68459051T>C	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.803T>C	4.37:g.68459051T>C	ENSP00000265404:p.Ile268Thr					STAP1_uc003hdf.2_Missense_Mutation_p.I268T	p.I268T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN			8	885	+			268			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.803T>C	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807295	0.50421	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.49139	0.79;0.79	5.65	5.65	0.86999	SH2 motif (1);	0.066658	0.64402	D	0.000008	T	0.45155	0.1328	M	0.65975	2.015	0.36557	D	0.872206	P	0.39665	0.682	B	0.34590	0.186	T	0.59804	-0.7385	10	0.54805	T	0.06	-22.5127	12.2617	0.54655	0.0:0.0:0.0:1.0	.	268	Q9ULZ2	STAP1_HUMAN	T	268	ENSP00000265404:I268T;ENSP00000379527:I268T	ENSP00000265404:I268T	I	+	2	0	STAP1	68141646	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.126000	0.57937	2.152000	0.67230	0.528000	0.53228	ATA		0.333	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		29	102	0	0	0	0.008361	0	29	102				
TMPRSS11D	9407	broad.mit.edu	37	4	68725387	68725387	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68725387A>T	ENST00000283916.6	-	2	116	c.18T>A	c.(16-18)cgT>cgA	p.R6R	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	6					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCGAAGTTACACGTGCTGGCC	0.408																																							uc003hdq.2		NA																	0				ovary(1)	1						c.(16-18)CGT>CGA		transmembrane protease, serine 11D							91.0	81.0	84.0					4																	68725387		2203	4300	6503	SO:0001819	synonymous_variant	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725387A>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.18T>A	4.37:g.68725387A>T						LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron	p.R6R	NM_004262	NP_004253	O60235	TM11D_HUMAN			2	83	-			6			Cytoplasmic (Potential).		Q08AF6	Silent	SNP	ENST00000283916.6	37	c.18T>A	CCDS3518.1																																																																																				0.408	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		19	39	0	0	0	0.008871	0	19	39				
CSN2	1447	broad.mit.edu	37	4	70823296	70823296	+	Missense_Mutation	SNP	G	G	T	rs267600228		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:70823296G>T	ENST00000353151.3	-	5	382	c.371C>A	c.(370-372)cCc>cAc	p.P124H		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTCAAAAAAGGGTATCGTTGG	0.478																																							uc003hes.3		NA																	0					0						c.(370-372)CCC>CAC		casein beta precursor							109.0	112.0	111.0					4																	70823296		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823296G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.371C>A	4.37:g.70823296G>T	ENSP00000341030:p.Pro124His					CSN2_uc003het.3_Missense_Mutation_p.P123H	p.P124H	NM_001891	NP_001882	P05814	CASB_HUMAN			5	384	-			124					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.371C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103453	0.37145	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.16	2.1	0.27182	.	0.434716	0.19949	N	0.102464	T	0.48205	0.1487	M	0.67700	2.07	0.09310	N	1	D	0.69078	0.997	P	0.56865	0.808	T	0.41142	-0.9525	9	0.87932	D	0	-1.5483	2.4552	0.04528	0.1972:0.0:0.5222:0.2806	.	124	P05814	CASB_HUMAN	H	124	.	ENSP00000341030:P124H	P	-	2	0	CSN2	70857885	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.223000	0.32527	0.484000	0.27630	0.650000	0.86243	CCC		0.478	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			5	115	1	0	1.23904e-05	0.000602	1.30146e-05	5	115				
RUFY3	22902	broad.mit.edu	37	4	71654656	71654656	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:71654656G>C	ENST00000226328.4	+	11	1768	c.1205G>C	c.(1204-1206)aGa>aCa	p.R402T	RUFY3_ENST00000417478.2_Missense_Mutation_p.R462T|RUFY3_ENST00000502653.1_Missense_Mutation_p.R349T|RUFY3_ENST00000381006.3_Missense_Mutation_p.R402T|RUFY3_ENST00000536664.1_Missense_Mutation_p.R386T	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	402					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GATGACCTCAGAGCTCTCAAG	0.507																																							uc003hfq.2		NA																	0					0						c.(1204-1206)AGA>ACA		RUN and FYVE domain containing 3 isoform 2							110.0	99.0	103.0					4																	71654656		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71654656G>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1205G>C	4.37:g.71654656G>C	ENSP00000226328:p.Arg402Thr					RUFY3_uc003hfp.3_Missense_Mutation_p.R462T|RUFY3_uc011cax.1_Missense_Mutation_p.R420T|RUFY3_uc003hfr.2_Missense_Mutation_p.R402T|RUFY3_uc011cay.1_Missense_Mutation_p.R338T	p.R402T	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		11	1800	+		all_hematologic(202;0.248)	402			Potential.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1205G>C	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508322	0.85282	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	L	0.54323	1.7	0.58432	D	0.999999	P;D;D;P	0.89917	0.945;1.0;0.981;0.508	P;D;D;B	0.69824	0.573;0.966;0.966;0.171	T	0.02301	-1.1180	10	0.87932	D	0	-23.5477	19.6014	0.95563	0.0:0.0:1.0:0.0	.	386;402;402;462	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	T	462;402;402;386;349	ENSP00000399771:R462T;ENSP00000370394:R402T;ENSP00000226328:R402T;ENSP00000443652:R386T;ENSP00000425400:R349T	ENSP00000226328:R402T	R	+	2	0	RUFY3	71873520	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.476000	0.97823	2.622000	0.88805	0.650000	0.86243	AGA		0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		6	110	0	0	0	0.001168	0	6	110				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																							uc003hlk.2		NA																	3	Substitution - Missense(3)		endometrium(2)|prostate(1)	lung(1)	1						c.(1378-1380)CAG>CAC		BMP-2 inducible kinase isoform a							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.Q460H|BMP2K_uc003hll.2_5'Flank	p.Q460H	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	123	0	0	0	0.004672	0	3	123				
WDFY3	23001	broad.mit.edu	37	4	85694065	85694065	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:85694065G>C	ENST00000295888.4	-	30	5179	c.4772C>G	c.(4771-4773)tCt>tGt	p.S1591C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S1591C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1591					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAAGTAGAAGAAATAAACTG	0.328																																							uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4771-4773)TCT>TGT		WD repeat and FYVE domain containing 3 isoform							56.0	55.0	56.0					4																	85694065		2202	4300	6502	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85694065G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4772C>G	4.37:g.85694065G>C	ENSP00000295888:p.Ser1591Cys						p.S1591C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	30	5180	-		Hepatocellular(203;0.114)	1591					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.4772C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878652	0.72294	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64438	-0.1;-0.1	5.42	5.42	0.78866	.	0.056331	0.64402	D	0.000001	T	0.52273	0.1724	N	0.22421	0.69	0.80722	D	1	P	0.39903	0.694	B	0.38056	0.264	T	0.56872	-0.7907	10	0.51188	T	0.08	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	1591	Q8IZQ1	WDFY3_HUMAN	C	1591	ENSP00000318466:S1591C;ENSP00000295888:S1591C	ENSP00000295888:S1591C	S	-	2	0	WDFY3	85913089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.611000	0.98342	2.540000	0.85666	0.655000	0.94253	TCT		0.328	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		3	31	0	0	0	0.004672	0	3	31				
GRID2	2895	broad.mit.edu	37	4	94032000	94032000	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:94032000C>A	ENST00000282020.4	+	4	889	c.631C>A	c.(631-633)Ctc>Atc	p.L211I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.L116I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	211					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GATTACCACTCTCTTTGACAC	0.418																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(631-633)CTC>ATC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						156.0	155.0	156.0					4																	94032000		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94032000C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.631C>A	4.37:g.94032000C>A	ENSP00000282020:p.Leu211Ile					GRID2_uc010ikx.2_Missense_Mutation_p.L211I|GRID2_uc011cdu.1_Missense_Mutation_p.L116I|GRID2_uc011cdv.1_RNA	p.L211I	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	889	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	211			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.631C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363015	0.61403	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.82803	-1.65;-1.64	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.070229	0.64402	D	0.000020	T	0.79941	0.4533	L	0.34521	1.04	0.40281	D	0.978395	P;P;P	0.47253	0.552;0.552;0.892	B;B;B	0.43018	0.301;0.301;0.405	T	0.83070	-0.0143	10	0.72032	D	0.01	.	19.7485	0.96259	0.0:1.0:0.0:0.0	.	116;211;152	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	I	211;116	ENSP00000282020:L211I;ENSP00000421257:L116I	ENSP00000282020:L211I	L	+	1	0	GRID2	94251023	0.954000	0.32549	0.999000	0.59377	0.998000	0.95712	2.157000	0.42320	2.742000	0.94016	0.655000	0.94253	CTC		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			48	132	1	0	3.21987e-24	0.00361	4.30488e-24	48	132				
ETNPPL	64850	broad.mit.edu	37	4	109663766	109663766	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:109663766C>T	ENST00000296486.3	-	13	1528	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ETNPPL_ENST00000512646.1_Missense_Mutation_p.M400I|ETNPPL_ENST00000510706.1_Missense_Mutation_p.M418I|ETNPPL_ENST00000411864.2_Missense_Mutation_p.M452I	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	458						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										CTTCTTTCAGCATCTGCAAGA	0.483																																							uc003hzc.2		NA																	0				ovary(1)	1						c.(1372-1374)ATG>ATA		alanine-glyoxylate aminotransferase 2-like 1							171.0	149.0	157.0					4																	109663766		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109663766C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1374G>A	4.37:g.109663766C>T	ENSP00000296486:p.Met458Ile					AGXT2L1_uc010imc.2_Missense_Mutation_p.M452I|AGXT2L1_uc011cfm.1_Missense_Mutation_p.M418I|AGXT2L1_uc011cfn.1_Missense_Mutation_p.M385I|AGXT2L1_uc011cfo.1_Missense_Mutation_p.M400I	p.M458I	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	13	1555	-			458					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1374G>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762461	0.31228	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;T;D;D	0.84873	-1.55;-1.1;-1.91;-1.5	5.78	4.04	0.47022	.	1.053100	0.07334	N	0.879630	T	0.79997	0.4543	L	0.47716	1.5	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.12837	0.004;0.008;0.004	T	0.63359	-0.6655	9	.	.	.	-10.1384	5.9574	0.19281	0.1541:0.6878:0.0:0.158	.	400;452;458	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	I	458;452;400;418	ENSP00000296486:M458I;ENSP00000392269:M452I;ENSP00000427065:M400I;ENSP00000423240:M418I	.	M	-	3	0	AGXT2L1	109883215	0.000000	0.05858	0.017000	0.16124	0.145000	0.21501	0.257000	0.18369	0.875000	0.35847	0.655000	0.94253	ATG		0.483	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		28	90	0	0	0	0.007291	0	28	90				
ALPK1	80216	broad.mit.edu	37	4	113356397	113356397	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:113356397A>T	ENST00000458497.1	+	12	3407	c.3128A>T	c.(3127-3129)aAa>aTa	p.K1043I	ALPK1_ENST00000177648.9_Missense_Mutation_p.K1043I|ALPK1_ENST00000504176.2_Missense_Mutation_p.K965I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1043	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTGAAGAAAAAAGGCAGACAA	0.358																																							uc003iap.3		NA																	0				ovary(5)	5						c.(3127-3129)AAA>ATA		alpha-kinase 1							146.0	173.0	164.0					4																	113356397		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113356397A>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3128A>T	4.37:g.113356397A>T	ENSP00000398048:p.Lys1043Ile					ALPK1_uc003ian.3_Missense_Mutation_p.K1043I|ALPK1_uc011cfx.1_Missense_Mutation_p.K965I|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.K871I	p.K1043I	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	12	3407	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1043			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3128A>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320169	0.81469	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.15952	2.38;2.38;2.38	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.185435	0.44483	D	0.000441	T	0.37892	0.1020	M	0.61703	1.905	0.30725	N	0.747812	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.974;0.983;0.985	T	0.43540	-0.9385	10	0.72032	D	0.01	-31.9555	12.2689	0.54695	0.8586:0.1414:0.0:0.0	.	965;965;1043	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	1043;1043;965	ENSP00000398048:K1043I;ENSP00000177648:K1043I;ENSP00000426044:K965I	ENSP00000177648:K1043I	K	+	2	0	ALPK1	113575846	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.946000	0.56644	2.272000	0.75746	0.460000	0.39030	AAA		0.358	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		72	225	0	0	0	0.00361	0	72	225				
ANK2	287	broad.mit.edu	37	4	114275772	114275772	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:114275772G>C	ENST00000357077.4	+	38	6051	c.5998G>C	c.(5998-6000)Ggt>Cgt	p.G2000R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1967R|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2000					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTCCAGTCAGGTCAGGACCC	0.433																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5998-6000)GGT>CGT		ankyrin 2 isoform 1							87.0	94.0	92.0					4																	114275772		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275772G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5998G>C	4.37:g.114275772G>C	ENSP00000349588:p.Gly2000Arg					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2015R	p.G2000R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6098	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1967					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5998G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577885	0.86645	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	D;D	0.93247	-3.17;-3.19	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000013	D	0.96411	0.8829	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95103	0.8232	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1967;2000	Q01484;Q01484-4	ANK2_HUMAN;.	R	2000;1967	ENSP00000349588:G2000R;ENSP00000264366:G1967R	.	G	+	1	0	ANK2	114495221	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GGT		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		42	119	0	0	0	0.007835	0	42	119				
ARSJ	79642	broad.mit.edu	37	4	114899972	114899972	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:114899972C>T	ENST00000315366.7	-	1	885	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.A7T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	7					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGATGCCCCGCACAGCCCCTG	0.662																																							uc003ibq.1		NA																	0				ovary(1)	1						c.(19-21)GCG>ACG		arylsulfatase J precursor							65.0	76.0	72.0					4																	114899972		1946	4045	5991	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899972C>T		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.19G>A	4.37:g.114899972C>T	ENSP00000320219:p.Ala7Thr					ARSJ_uc010imu.1_Missense_Mutation_p.A7T|ARSJ_uc010imv.1_5'UTR	p.A7T	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	907	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	7					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.19G>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528513	0.27299	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97279	-4.31;-4.32	4.86	2.87	0.33458	.	1.012140	0.07923	N	0.976257	D	0.93706	0.7989	L	0.29908	0.895	0.22880	N	0.998619	B;B	0.15141	0.012;0.012	B;B	0.18871	0.023;0.023	D	0.87496	0.2430	10	0.72032	D	0.01	.	8.8169	0.35000	0.1649:0.6749:0.1602:0.0	.	7;7	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	T	7	ENSP00000320219:A7T;ENSP00000438836:A7T	ENSP00000320219:A7T	A	-	1	0	ARSJ	115119421	0.011000	0.17503	0.238000	0.24106	0.026000	0.11368	0.144000	0.16135	2.228000	0.72767	0.655000	0.94253	GCG		0.662	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		56	146	0	0	0	0.00361	0	56	146				
PRDM5	11107	broad.mit.edu	37	4	121828674	121828674	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:121828674C>A	ENST00000264808.3	-	2	372	c.132G>T	c.(130-132)atG>atT	p.M44I	PRDM5_ENST00000428209.2_Missense_Mutation_p.M44I|PRDM5_ENST00000515109.1_Missense_Mutation_p.M44I|PRDM5_ENST00000394435.2_Missense_Mutation_p.M44I	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	44	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTCTTCAGGCATTCTCTTCT	0.323																																							uc003idn.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(130-132)ATG>ATT		PR domain containing 5							145.0	145.0	145.0					4																	121828674		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121828674C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.132G>T	4.37:g.121828674C>A	ENSP00000264808:p.Met44Ile					PRDM5_uc003ido.2_Missense_Mutation_p.M44I|PRDM5_uc010ine.2_Missense_Mutation_p.M44I|PRDM5_uc010inf.2_Missense_Mutation_p.M44I|PRDM5_uc003idp.1_Missense_Mutation_p.M44I	p.M44I	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			2	382	-			44			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.132G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746695	0.49257	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.81	5.81	0.92471	SET domain (2);	0.172773	0.64402	D	0.000013	T	0.53981	0.1830	N	0.17474	0.49	0.38889	D	0.957078	B;B;B;B	0.09022	0.0;0.002;0.001;0.0	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.51419	-0.8708	10	0.20519	T	0.43	-16.5981	13.7765	0.63057	0.1537:0.8463:0.0:0.0	.	44;44;44;44	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	I	44	ENSP00000264808:M44I;ENSP00000422309:M44I;ENSP00000404832:M44I;ENSP00000377955:M44I	ENSP00000264808:M44I	M	-	3	0	PRDM5	122048124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.972000	0.56838	2.746000	0.94184	0.655000	0.94253	ATG		0.323	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			18	76	1	0	1.22574e-08	0.002299	1.35121e-08	18	76				
NUDT6	11162	broad.mit.edu	37	4	123813428	123813428	+	IGR	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:123813428C>A	ENST00000304430.5	-	0	1169				FGF2_ENST00000608478.1_Nonsense_Mutation_p.Y115*|FGF2_ENST00000264498.3_Nonsense_Mutation_p.Y248*|NUDT6_ENST00000608639.1_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						ACAATACTTACCGGTCAAGGA	0.363																																							uc003iev.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(742-744)TAC>TAA		fibroblast growth factor 2	Pentosan Polysulfate(DB00686)						120.0	119.0	119.0					4																	123813428		2203	4300	6503	SO:0001628	intergenic_variant	2247				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	g.chr4:123813428C>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813428C>A							p.Y248*	NM_002006	NP_001997	P09038	FGF2_HUMAN			3	812	+			248					A8K756|O95097|Q9UQD9	Nonsense_Mutation	SNP	ENST00000304430.5	37	c.744C>A	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461435	0.84317	.	.	ENSG00000138685	ENST00000264498	.	.	.	5.78	3.75	0.43078	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.231	0.54488	0.0:0.7951:0.0:0.2049	.	.	.	.	X	248	.	ENSP00000264498:Y248X	Y	+	3	2	FGF2	124032878	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.554000	0.23407	1.444000	0.47605	0.650000	0.86243	TAC		0.363	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		19	44	1	0	7.45023e-12	0.010504	8.65074e-12	19	44				
DCHS2	54798	broad.mit.edu	37	4	155180804	155180804	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155180804C>A	ENST00000357232.4	-	20	5316	c.5317G>T	c.(5317-5319)Gta>Tta	p.V1773L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1773	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGACTGCTACTTTGCAATAG	0.398																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(5317-5319)GTA>TTA		dachsous 2 isoform 1							183.0	162.0	169.0					4																	155180804		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180804C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5317G>T	4.37:g.155180804C>A	ENSP00000349768:p.Val1773Leu						p.V1773L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5317	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1773			Cadherin 15.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5317G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048838	0.55110	.	.	ENSG00000197410	ENST00000357232	T	0.47528	0.84	5.52	2.81	0.32909	Cadherin (3);Cadherin-like (1);	0.183248	0.36519	N	0.002551	T	0.55130	0.1901	M	0.70108	2.13	0.80722	D	1	D	0.62365	0.991	P	0.54856	0.762	T	0.51301	-0.8723	10	0.39692	T	0.17	.	8.3515	0.32305	0.0:0.7269:0.1284:0.1447	.	1773	Q6V1P9	PCD23_HUMAN	L	1773	ENSP00000349768:V1773L	ENSP00000349768:V1773L	V	-	1	0	DCHS2	155400254	1.000000	0.71417	0.812000	0.32479	0.405000	0.30901	1.923000	0.40055	0.362000	0.24319	0.655000	0.94253	GTA		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		45	65	1	0	3.61183e-13	0.00361	4.24921e-13	45	65				
DCHS2	54798	broad.mit.edu	37	4	155241958	155241958	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155241958G>C	ENST00000357232.4	-	14	3227	c.3228C>G	c.(3226-3228)gtC>gtG	p.V1076V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1076	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCATTGAAGACATACACCA	0.443																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3226-3228)GTC>GTG		dachsous 2 isoform 1							212.0	222.0	219.0					4																	155241958		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241958G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3228C>G	4.37:g.155241958G>C							p.V1076V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3228	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1076			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3228C>G	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		10	142	0	0	0	0.006214	0	10	142				
PLRG1	5356	broad.mit.edu	37	4	155458507	155458507	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155458507C>T	ENST00000499023.2	-	14	1542	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	PLRG1_ENST00000302078.5_Silent_p.Q463Q|PLRG1_ENST00000393905.2_Silent_p.Q472Q	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	472					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GACTTTCAGACTGATCAAAAG	0.418																																							uc003iny.2		NA																	0					0						c.(1414-1416)CAG>CAA		pleiotropic regulator 1 (PRL1 homolog,							121.0	117.0	119.0					4																	155458507		2203	4299	6502	SO:0001819	synonymous_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155458507C>T	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1416G>A	4.37:g.155458507C>T						PLRG1_uc003inz.2_Silent_p.Q463Q	p.Q472Q	NM_002669	NP_002660	O43660	PLRG1_HUMAN			14	1479	-	all_hematologic(180;0.215)	Renal(120;0.0854)	472			WD 7.		B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	c.1416G>A	CCDS34083.1																																																																																				0.418	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		22	56	0	0	0	0.012319	0	22	56				
RAPGEF2	9693	broad.mit.edu	37	4	160274748	160274748	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:160274748G>C	ENST00000264431.4	+	22	4137	c.3718G>C	c.(3718-3720)Gat>Cat	p.D1240H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1240					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCGTCACTTGATGCTGCTGA	0.537																																							uc003iqg.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3718-3720)GAT>CAT		Rap guanine nucleotide exchange factor 2							96.0	100.0	99.0					4																	160274748		2052	4197	6249	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160274748G>C	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3718G>C	4.37:g.160274748G>C	ENSP00000264431:p.Asp1240His						p.D1240H	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	4028	+	all_hematologic(180;0.24)		1240					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3718G>C	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.52|18.52	3.642864|3.642864	0.67244|0.67244	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000505026	T|.	0.50001|.	0.76|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71290|.	0.3322|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	P|.	0.60345|.	0.873|.	T|.	0.66073|.	-0.6014|.	10|.	0.72032|.	D|.	0.01|.	.|.	20.0544|20.0544	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1240|.	Q9Y4G8|.	RPGF2_HUMAN|.	H|S	1240|174	ENSP00000264431:D1240H|.	ENSP00000264431:D1240H|.	D|X	+|+	1|2	0|2	RAPGEF2|RAPGEF2	160494198|160494198	1.000000|1.000000	0.71417|0.71417	0.676000|0.676000	0.29932|0.29932	0.246000|0.246000	0.25737|0.25737	9.727000|9.727000	0.98787|0.98787	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.537	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		14	148	0	0	0	0.00245	0	14	148				
GALNTL6	442117	broad.mit.edu	37	4	173269725	173269725	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:173269725C>T	ENST00000506823.1	+	5	1095	c.438C>T	c.(436-438)atC>atT	p.I146I	GALNTL6_ENST00000508122.1_Silent_p.I129I|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	146	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCATCATTATCCCATTTCATA	0.413																																							uc003isv.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(436-438)ATC>ATT		N-acetylgalactosaminyltransferase-like 6							145.0	136.0	139.0					4																	173269725		2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269725C>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.438C>T	4.37:g.173269725C>T							p.I146I	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			5	1174	+			146			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.438C>T	CCDS34104.1																																																																																				0.413	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		28	96	0	0	0	0.010818	0	28	96				
HAND2	9464	broad.mit.edu	37	4	174448469	174448469	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:174448469C>A	ENST00000359562.4	-	2	1552	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'Flank|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	205					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGCGGCCAGCCCGTCCGGCCT	0.587																																							uc003ith.1		NA																	0				skin(1)	1						c.(613-615)GGC>TGC		basic helix-loop-helix transcription factor							79.0	85.0	83.0					4																	174448469		2203	4300	6503	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174448469C>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.613G>T	4.37:g.174448469C>A	ENSP00000352565:p.Gly205Cys					HAND2_uc003itg.1_Missense_Mutation_p.G170V	p.G205C	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	1551	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	205					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.613G>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921402	0.92249	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	D	0.98329	-4.87	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99831	1.1054	10	0.87932	D	0	-27.5047	20.0051	0.97433	0.0:1.0:0.0:0.0	.	205	P61296	HAND2_HUMAN	C	205;174;153	ENSP00000352565:G205C	ENSP00000352565:G205C	G	-	1	0	HAND2	174685044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.740000	0.84986	2.739000	0.93911	0.561000	0.74099	GGC		0.587	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			58	124	1	0	4.09171e-25	0.00361	5.50051e-25	58	124				
ADAM29	11086	broad.mit.edu	37	4	175898632	175898632	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:175898632C>A	ENST00000359240.3	+	5	2626	c.1956C>A	c.(1954-1956)aaC>aaA	p.N652K	ADAM29_ENST00000514159.1_Missense_Mutation_p.N652K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N652K|ADAM29_ENST00000404450.4_Missense_Mutation_p.N652K|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	652	EGF-like.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCCTCCCAACTGCCTGATAA	0.423																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1954-1956)AAC>AAA		ADAM metallopeptidase domain 29 preproprotein							53.0	52.0	53.0					4																	175898632		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898632C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1956C>A	4.37:g.175898632C>A	ENSP00000352177:p.Asn652Lys					ADAM29_uc003iud.2_Missense_Mutation_p.N652K|ADAM29_uc010irr.2_Missense_Mutation_p.N652K|ADAM29_uc011cki.1_Missense_Mutation_p.N652K	p.N652K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2626	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	652			EGF-like.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1956C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570412	0.28003	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	3.32	1.58	0.23477	.	0.490968	0.15023	U	0.284865	T	0.65739	0.2720	M	0.62723	1.935	0.09310	N	0.999998	B	0.26318	0.146	B	0.19148	0.024	T	0.52924	-0.8510	9	.	.	.	.	7.5937	0.28035	0.0:0.7796:0.0:0.2204	.	652	Q9UKF5	ADA29_HUMAN	K	652	ENSP00000352177:N652K;ENSP00000414544:N652K;ENSP00000384229:N652K;ENSP00000423517:N652K	.	N	+	3	2	ADAM29	176135207	0.957000	0.32711	0.028000	0.17463	0.613000	0.37349	1.174000	0.31932	0.414000	0.25790	0.643000	0.83706	AAC		0.423	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				29	40	1	0	1.74807e-11	0.010818	2.01305e-11	29	40				
ASB5	140458	broad.mit.edu	37	4	177138085	177138085	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:177138085A>G	ENST00000296525.3	-	6	859	c.746T>C	c.(745-747)gTa>gCa	p.V249A	ASB5_ENST00000512254.1_Missense_Mutation_p.V196A	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	249					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CAGTAAGTTTACAATTTCTGT	0.408																																							uc003iuq.1		NA																	0				skin(2)	2						c.(745-747)GTA>GCA		ankyrin repeat and SOCS box-containing protein							195.0	186.0	189.0					4																	177138085		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138085A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.746T>C	4.37:g.177138085A>G	ENSP00000296525:p.Val249Ala					ASB5_uc003iup.1_Missense_Mutation_p.V196A	p.V249A	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	762	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	249			ANK 6.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.746T>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350310	0.61183	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.71222	-0.54;-0.55	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.172150	0.51477	D	0.000094	T	0.69124	0.3076	L	0.41236	1.265	0.44816	D	0.997824	D;D	0.56746	0.977;0.977	P;P	0.57152	0.814;0.814	T	0.64685	-0.6349	10	0.09590	T	0.72	-15.9101	10.2132	0.43154	0.9256:0.0:0.0744:0.0	.	249;196	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	A	249;196	ENSP00000296525:V249A;ENSP00000422877:V196A	ENSP00000296525:V249A	V	-	2	0	ASB5	177375079	0.998000	0.40836	0.549000	0.28204	0.813000	0.45954	5.538000	0.67193	2.190000	0.69967	0.482000	0.46254	GTA		0.408	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			53	108	0	0	0	0.00361	0	53	108				
TRIML2	205860	broad.mit.edu	37	4	189012758	189012758	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:189012758G>C	ENST00000512729.1	-	7	1307	c.933C>G	c.(931-933)ctC>ctG	p.L311L	TRIML2_ENST00000326754.3_Silent_p.L336L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTCCAGGAAGAGCCTTTTCA	0.532																																							uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(931-933)CTC>CTG		tripartite motif family-like 2							130.0	148.0	142.0					4																	189012758		2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189012758G>C	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.933C>G	4.37:g.189012758G>C						TRIML2_uc003izj.1_Silent_p.L139L|TRIML2_uc003izk.1_Silent_p.L119L|TRIML2_uc011cle.1_Silent_p.L386L	p.L311L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	969	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	311			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.933C>G	CCDS3850.1																																																																																				0.532	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		39	184	0	0	0	0.00623	0	39	184				
ZDHHC11	79844	broad.mit.edu	37	5	837564	837564	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L272L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493																																							uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(814-816)CTC>CTA		zinc finger, DHHC-type containing 11							171.0	199.0	189.0					5																	837564		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837564G>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.816C>A	5.37:g.837564G>T						ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	p.L272L	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1200	-			272					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.816C>A	CCDS3857.1																																																																																				0.493	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		5	196	1	0	2.7689e-08	0.001984	3.04547e-08	5	196				
SLC6A18	348932	broad.mit.edu	37	5	1243781	1243781	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:1243781C>A	ENST00000324642.3	+	9	1366	c.1243C>A	c.(1243-1245)Cta>Ata	p.L415I	SLC6A18_ENST00000296821.4_Missense_Mutation_p.L344I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	415					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTTGGGGCTATCGACCAT	0.657																																							uc003jby.1		NA																	0				ovary(1)	1						c.(1243-1245)CTA>ATA		solute carrier family 6, member 18							120.0	96.0	104.0					5																	1243781		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1243781C>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1243C>A	5.37:g.1243781C>A	ENSP00000323549:p.Leu415Ile						p.L415I	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1366	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		415			Helical; Name=8; (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1243C>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921934	0.52653	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.81078	-1.45;-1.45	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000006	D	0.85195	0.5641	L	0.43554	1.36	0.28812	N	0.898208	D	0.59767	0.986	D	0.65573	0.936	T	0.79729	-0.1681	10	0.33141	T	0.24	.	17.8393	0.88710	0.0:1.0:0.0:0.0	.	415	Q96N87	S6A18_HUMAN	I	415;344	ENSP00000323549:L415I;ENSP00000296821:L344I	ENSP00000296821:L344I	L	+	1	2	SLC6A18	1296781	0.960000	0.32886	0.962000	0.40283	0.323000	0.28346	2.286000	0.43496	2.321000	0.78463	0.561000	0.74099	CTA		0.657	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		31	95	1	0	2.08457e-15	0.010818	2.53459e-15	31	95				
CLPTM1L	81037	broad.mit.edu	37	5	1318514	1318514	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:1318514C>G	ENST00000320895.5	-	17	1844	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.E360D|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.E493D	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	529					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTGGCCTTCTCCTCGTAGG	0.557																																							uc003jch.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1585-1587)GAG>GAC		CLPTM1-like							56.0	57.0	57.0					5																	1318514		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1318514C>G	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1587G>C	5.37:g.1318514C>G	ENSP00000313854:p.Glu529Asp					CLPTM1L_uc003jcg.2_Missense_Mutation_p.E360D	p.E529D	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	17	1633	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		529			Cytoplasmic (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1587G>C	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837228	0.32513	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.43294	0.97;0.95;0.95	5.62	-1.78	0.07957	.	0.205916	0.49916	N	0.000133	T	0.14657	0.0354	N	0.11341	0.13	0.32340	N	0.559847	B;B	0.12013	0.001;0.005	B;B	0.11329	0.003;0.006	T	0.39121	-0.9629	10	0.02654	T	1	-28.5572	5.5463	0.17065	0.0:0.3192:0.2508:0.43	.	529;360	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	D	529;360;493	ENSP00000313854:E529D;ENSP00000423321:E360D;ENSP00000315196:E493D	ENSP00000313854:E529D	E	-	3	2	CLPTM1L	1371514	0.974000	0.33945	0.006000	0.13384	0.024000	0.10985	0.019000	0.13444	-0.208000	0.10171	-0.140000	0.14226	GAG		0.557	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		20	121	0	0	0	0.012319	0	20	121				
ADCY2	108	broad.mit.edu	37	5	7743826	7743826	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:7743826G>T	ENST00000338316.4	+	15	2006	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.L459L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	639					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTCTTGCTGGCCTTCATCC	0.483																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1915-1917)CTG>CTT		adenylate cyclase 2							364.0	323.0	337.0					5																	7743826		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7743826G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1917G>T	5.37:g.7743826G>T						ADCY2_uc011cmo.1_Silent_p.L459L	p.L639L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			15	1984	+			639			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1917G>T	CCDS3872.2																																																																																				0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		136	365	1	0	3.67666e-70	0.00361	5.77424e-70	136	365				
MARCH11	441061	broad.mit.edu	37	5	16067857	16067857	+	Missense_Mutation	SNP	C	C	T	rs185990656		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:16067857C>T	ENST00000332432.8	-	4	1131	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	311					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AGCTCGCCAGCGCTTAAACAC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18442	0.001		0.0	False		,,,				2504	0.0						uc003jfo.2		NA																	0					0						c.(931-933)CGC>CAC		membrane-associated ring finger (C3HC4) 11							55.0	53.0	54.0					5																	16067857		1895	4132	6027	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067857C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.932G>A	5.37:g.16067857C>T	ENSP00000333181:p.Arg311His					MARCH11_uc010itw.1_Missense_Mutation_p.R67H	p.R311H	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1145	-			311					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.932G>A	CCDS47192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	31	5.060170	0.93846	.	.	ENSG00000183654	ENST00000332432	T	0.60424	0.19	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76697	-0.2864	10	0.87932	D	0	-19.9747	19.8453	0.96705	0.0:1.0:0.0:0.0	.	311	A6NNE9	MARHB_HUMAN	H	311	ENSP00000333181:R311H	ENSP00000333181:R311H	R	-	2	0	MARCH11	16120857	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.249000	0.78278	2.754000	0.94517	0.655000	0.94253	CGC		0.428	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		43	47	0	0	0	0.011902	0	43	47				
FAM134B	54463	broad.mit.edu	37	5	16477889	16477889	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:16477889G>A	ENST00000306320.9	-	8	968	c.882C>T	c.(880-882)ctC>ctT	p.L294L	FAM134B_ENST00000399793.2_Silent_p.L153L	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	294					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CAGCAACCGTGAGGCTAATCT	0.413																																							uc003jfs.2		NA																	0				ovary(2)|breast(1)	3						c.(880-882)CTC>CTT		hypothetical protein LOC54463 isoform 1							65.0	61.0	62.0					5																	16477889		1830	4080	5910	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16477889G>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.882C>T	5.37:g.16477889G>A						FAM134B_uc003jfr.2_Silent_p.L153L	p.L294L	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			8	920	-			294					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.882C>T	CCDS43304.1																																																																																				0.413	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		4	123	0	0	0	0.009096	0	4	123				
GOLPH3	64083	broad.mit.edu	37	5	32126342	32126342	+	Silent	SNP	C	C	A	rs147714399		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:32126342C>A	ENST00000265070.6	-	4	1188	c.873G>T	c.(871-873)gcG>gcT	p.A291A	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCGCCACCACCGCCCACAGAA	0.498																																							uc003jhp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(871-873)GCG>GCT		golgi phosphoprotein 3							114.0	111.0	112.0					5																	32126342		2203	4300	6503	SO:0001819	synonymous_variant	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126342C>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.873G>T	5.37:g.32126342C>A							p.A291A	NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN			4	1158	-			291					Q9UIW5	Silent	SNP	ENST00000265070.6	37	c.873G>T	CCDS3896.1																																																																																				0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		75	187	1	0	6.09464e-36	0.00361	8.82237e-36	75	187				
SLC1A3	6507	broad.mit.edu	37	5	36677035	36677035	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:36677035C>A	ENST00000265113.4	+	6	1085	c.609C>A	c.(607-609)atC>atA	p.I203I	SLC1A3_ENST00000381918.3_Silent_p.I203I|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	203					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTGCCCATCCAGGCCAACG	0.398																																							uc003jkj.3		NA																	0					0						c.(607-609)ATC>ATA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						66.0	62.0	63.0					5																	36677035		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677035C>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.609C>A	5.37:g.36677035C>A						SLC1A3_uc011cox.1_Silent_p.I96I|SLC1A3_uc010iuy.2_Silent_p.I203I	p.I203I	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1085	+	all_lung(31;0.000245)		203			Extracellular (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.609C>A	CCDS3919.1																																																																																				0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		13	52	1	0	7.93312e-07	0.00245	8.58108e-07	13	52				
NIPBL	25836	broad.mit.edu	37	5	36985082	36985082	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:36985082T>C	ENST00000282516.8	+	10	2299	c.1800T>C	c.(1798-1800)ccT>ccC	p.P600P	NIPBL_ENST00000448238.2_Silent_p.P600P|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	600					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGAGACACCTAAAAAAAAGT	0.358																																							uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1798-1800)CCT>CCC		delangin isoform A							65.0	67.0	67.0					5																	36985082		2202	4300	6502	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985082T>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1800T>C	5.37:g.36985082T>C						NIPBL_uc003jkk.3_Silent_p.P600P|NIPBL_uc003jkm.1_Silent_p.P479P	p.P600P	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2299	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		600					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.1800T>C	CCDS3920.1																																																																																				0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		3	97	0	0	0	0.004672	0	3	97				
RICTOR	253260	broad.mit.edu	37	5	38967476	38967476	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:38967476C>T	ENST00000357387.3	-	13	1144	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E372K	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GTTTTTGCCTCAGCTGCCACA	0.368																																							uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1114-1116)GAG>AAG		rapamycin-insensitive companion of mTOR							61.0	64.0	63.0					5																	38967476		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38967476C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1114G>A	5.37:g.38967476C>T	ENSP00000349959:p.Glu372Lys					RICTOR_uc003jlo.2_Missense_Mutation_p.E372K|RICTOR_uc010ivf.2_Missense_Mutation_p.E87K	p.E372K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			13	1138	-	all_lung(31;0.000396)		372						Missense_Mutation	SNP	ENST00000357387.3	37	c.1114G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	36	5.696084	0.96802	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.53423	0.62;0.63	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.987	T	0.72377	-0.4312	10	0.87932	D	0	-14.5883	19.6092	0.95599	0.0:1.0:0.0:0.0	.	372;372	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	372	ENSP00000349959:E372K;ENSP00000296782:E372K	ENSP00000296782:E372K	E	-	1	0	RICTOR	39003233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.693000	0.91896	0.655000	0.94253	GAG		0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		15	110	0	0	0	0.003163	0	15	110				
ITGA1	3672	broad.mit.edu	37	5	52206177	52206177	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:52206177G>T	ENST00000282588.6	+	14	2243	c.1785G>T	c.(1783-1785)ctG>ctT	p.L595L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	595					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGCTCCGCTGGAAGATGATC	0.438																																							uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(1783-1785)CTG>CTT		integrin, alpha 1 precursor							91.0	91.0	91.0					5																	52206177		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52206177G>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1785G>T	5.37:g.52206177G>T						ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.L126L	p.L595L	NM_181501	NP_852478	P56199	ITA1_HUMAN			14	1837	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	595			Extracellular (Potential).|FG-GAP 6.		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.1785G>T	CCDS3955.1																																																																																				0.438	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		20	39	1	0	1.96292e-10	0.010504	2.23682e-10	20	39				
ESM1	11082	broad.mit.edu	37	5	54281066	54281066	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:54281066C>T	ENST00000381405.4	-	1	425	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ESM1_ENST00000381403.4_Missense_Mutation_p.E94K|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	94	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CCAAACTCTTCACCAAAAGGA	0.562																																							uc003jpk.2		NA																	0					0						c.(280-282)GAA>AAA		endothelial cell-specific molecule 1 isoform a							103.0	105.0	104.0					5																	54281066		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281066C>T	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.280G>A	5.37:g.54281066C>T	ENSP00000370812:p.Glu94Lys					ESM1_uc010ivt.2_Missense_Mutation_p.E94K	p.E94K	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	349	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	94			IGFBP N-terminal.		B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.280G>A	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849263	0.71603	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	T;T	0.63417	-0.04;-0.04	5.56	5.56	0.83823	Insulin-like growth factor-binding protein, IGFBP (2);	0.098796	0.64402	D	0.000003	T	0.56673	0.2001	L	0.49126	1.545	0.48341	D	0.999631	B;P	0.35433	0.361;0.501	B;B	0.27608	0.039;0.081	T	0.57980	-0.7717	10	0.41790	T	0.15	-13.7723	19.1338	0.93418	0.0:1.0:0.0:0.0	.	94;94	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	K	94	ENSP00000370812:E94K;ENSP00000370810:E94K	ENSP00000370810:E94K	E	-	1	0	ESM1	54316823	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.587000	0.82613	2.602000	0.87976	0.563000	0.77884	GAA		0.562	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		87	147	0	0	0	0.00361	0	87	147				
DDX4	54514	broad.mit.edu	37	5	55077767	55077767	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:55077767G>A	ENST00000505374.1	+	10	675	c.583G>A	c.(583-585)Ggt>Agt	p.G195S	DDX4_ENST00000514278.2_Missense_Mutation_p.G175S|DDX4_ENST00000353507.5_Missense_Mutation_p.G161S|DDX4_ENST00000511853.1_Missense_Mutation_p.G62S|DDX4_ENST00000354991.5_Missense_Mutation_p.G161S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	195	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACAGGTAATGGTGATACTTC	0.338																																							uc003jqg.3		NA																	0				ovary(1)|skin(1)	2						c.(583-585)GGT>AGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							110.0	107.0	108.0					5																	55077767		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55077767G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.583G>A	5.37:g.55077767G>A	ENSP00000424838:p.Gly195Ser					DDX4_uc010ivz.2_Missense_Mutation_p.G175S|DDX4_uc003jqh.3_Missense_Mutation_p.G161S|DDX4_uc003jqj.2_Missense_Mutation_p.G62S	p.G195S	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			10	657	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	195			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.583G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432101	0.43122	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.23950	1.92;1.95;1.88;3.47;1.92;1.95	4.9	4.9	0.64082	.	0.000000	0.49305	D	0.000155	T	0.27967	0.0689	N	0.08118	0	0.80722	D	1	P;D;D;D	0.89917	0.89;0.991;1.0;1.0	B;P;D;D	0.97110	0.374;0.734;1.0;0.999	T	0.10613	-1.0622	10	0.20046	T	0.44	-14.1472	13.4457	0.61140	0.0:0.0:1.0:0.0	.	175;62;161;195	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	S	161;175;195;175;161;62	ENSP00000334167:G161S;ENSP00000425359:G175S;ENSP00000424838:G195S;ENSP00000427167:G175S;ENSP00000347087:G161S;ENSP00000423123:G62S	ENSP00000334167:G161S	G	+	1	0	DDX4	55113524	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	4.235000	0.58666	2.559000	0.86315	0.655000	0.94253	GGT		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		14	41	0	0	0	0.003163	0	14	41				
ANKRD55	79722	broad.mit.edu	37	5	55407601	55407601	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:55407601G>T	ENST00000341048.4	-	10	1125	c.974C>A	c.(973-975)cCt>cAt	p.P325H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.P282H|ANKRD55_ENST00000434982.2_Missense_Mutation_p.P37H|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	325										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGTCGAGTAGGCTCTGTTCT	0.488																																							uc003jqu.2		NA																	0				skin(1)	1						c.(973-975)CCT>CAT		ankyrin repeat domain 55 isoform 1							85.0	85.0	85.0					5																	55407601		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407601G>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.974C>A	5.37:g.55407601G>T	ENSP00000342295:p.Pro325His					ANKRD55_uc003jqt.2_Missense_Mutation_p.P37H	p.P325H	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			10	1126	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	324			ANK 9.		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.974C>A	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.11|17.11	3.305615|3.305615	0.60305|0.60305	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000505970|ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	.|T;T;T	.|0.43688	.|1.13;0.94;1.47	5.49|5.49	4.56|4.56	0.56223|0.56223	.|Ankyrin repeat-containing domain (1);	.|0.389674	.|0.26642	.|N	.|0.023256	T|T	0.48732|0.48732	0.1516|0.1516	L|L	0.52206|0.52206	1.635|1.635	0.32059|0.32059	N|N	0.595934|0.595934	.|P;D	.|0.64830	.|0.773;0.994	.|P;P	.|0.59948	.|0.65;0.866	T|T	0.55315|0.55315	-0.8160|-0.8160	6|10	0.15952|0.41790	T|T	0.53|0.15	.|.	6.8922|6.8922	0.24236|0.24236	0.1105:0.0:0.7144:0.175|0.1105:0.0:0.7144:0.175	.|.	.|325;324	.|B3KVT8;Q3KP44	.|.;ANR55_HUMAN	I|H	70|325;325;282;37	.|ENSP00000342295:P325H;ENSP00000424230:P282H;ENSP00000429421:P37H	ENSP00000422370:L70I|ENSP00000342295:P325H	L|P	-|-	1|2	2|0	ANKRD55|ANKRD55	55443358|55443358	0.960000|0.960000	0.32886|0.32886	0.964000|0.964000	0.40570|0.40570	0.649000|0.649000	0.38597|0.38597	2.189000|2.189000	0.42621|0.42621	2.753000|2.753000	0.94483|0.94483	0.650000|0.650000	0.86243|0.86243	CTA|CCT		0.488	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		48	98	1	0	7.05377e-20	0.00361	9.0009e-20	48	98				
CWC27	10283	broad.mit.edu	37	5	64081337	64081337	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:64081337G>T	ENST00000381070.3	+	5	643	c.426G>T	c.(424-426)ttG>ttT	p.L142F	CWC27_ENST00000508024.1_Missense_Mutation_p.L142F	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	142	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						ATAACATGTTGCGACTGTCAG	0.333																																							uc003jtn.1		NA																	0					0						c.(424-426)TTG>TTT		serologically defined colon cancer antigen 10							146.0	143.0	144.0					5																	64081337		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081337G>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.426G>T	5.37:g.64081337G>T	ENSP00000370460:p.Leu142Phe					CWC27_uc003jtl.2_Missense_Mutation_p.L142F|CWC27_uc003jtm.2_Missense_Mutation_p.L142F|CWC27_uc010iwt.1_Missense_Mutation_p.L142F	p.L142F	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			5	645	+			142			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.426G>T	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494576	0.64186	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.29142	1.58;1.58	5.07	-0.606	0.11619	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.983;0.987;0.992;0.996	T	0.50742	-0.8792	10	0.66056	D	0.02	.	5.4436	0.16523	0.3069:0.2437:0.4495:0.0	.	142;142;142;142	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	F	142	ENSP00000370460:L142F;ENSP00000426802:L142F	ENSP00000370460:L142F	L	+	3	2	CWC27	64117093	0.232000	0.23762	0.987000	0.45799	0.979000	0.70002	-0.318000	0.08050	-0.016000	0.14127	0.467000	0.42956	TTG		0.333	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		43	141	1	0	4.44401e-20	0.010771	5.68555e-20	43	141				
ADAMTS6	11174	broad.mit.edu	37	5	64492968	64492968	+	5'UTR	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:64492968T>A	ENST00000314351.5	-	0	245							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCACCTCCTGTCTTTGGACAC	0.423																																							uc003jtp.2		NA																	0					0						c.(2584-2586)AGA>AGT		ADAM metallopeptidase with thrombospondin type 1							121.0	114.0	117.0					5																	64492968		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64492968T>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-1077A>T	5.37:g.64492968T>A						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.R862S	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	21	3400	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	862			TSP type-1 2.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000314351.5	37	c.2586A>T		.	.	.	.	.	.	.	.	.	.	T	8.260	0.811046	0.16537	.	.	ENSG00000049192	ENST00000381055	T	0.51071	0.72	5.9	3.56	0.40772	.	0.083731	0.85682	D	0.000000	T	0.29389	0.0732	N	0.16833	0.445	0.80722	D	1	B	0.10296	0.003	B	0.22601	0.04	T	0.05784	-1.0864	10	0.21540	T	0.41	.	9.5131	0.39089	0.0:0.1859:0.0:0.8141	.	862	Q9UKP5	ATS6_HUMAN	S	862	ENSP00000370443:R862S	ENSP00000370443:R862S	R	-	3	2	ADAMTS6	64528724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.453000	0.35167	1.070000	0.40811	0.528000	0.53228	AGA		0.423	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		28	47	0	0	0	0.009535	0	28	47				
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G	rs548057941	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0						uc003jwc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)GAT>GAC		TAF9 RNA polymerase II, TATA box binding							115.0	107.0	110.0					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Silent_p.D255D|TAF9_uc003jwe.1_Silent_p.D255D|TAF9_uc003jwf.1_Silent_p.D255D	p.D255D	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	1097	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	255			Poly-Asp.		D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		4	122	0	0	0	0.009096	0	4	122				
UTP15	84135	broad.mit.edu	37	5	72874903	72874903	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:72874903G>C	ENST00000296792.4	+	11	1463	c.1208G>C	c.(1207-1209)aGa>aCa	p.R403T	UTP15_ENST00000543251.1_Missense_Mutation_p.R213T|UTP15_ENST00000508491.1_Missense_Mutation_p.R384T	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	403					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TTAAATCGAAGAGGAGTCCTT	0.378																																							uc003kcw.1		NA																	0					0						c.(1207-1209)AGA>ACA		UTP15, U3 small nucleolar ribonucleoprotein,							115.0	120.0	118.0					5																	72874903		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72874903G>C	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.1208G>C	5.37:g.72874903G>C	ENSP00000296792:p.Arg403Thr					UTP15_uc011cso.1_Missense_Mutation_p.R384T|UTP15_uc011csp.1_Missense_Mutation_p.R213T|UTP15_uc010ize.1_Missense_Mutation_p.R403T	p.R403T	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	11	1431	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	403					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.1208G>C	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.955964|4.955964	0.92726|0.92726	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000509005|ENST00000296792;ENST00000543251;ENST00000508491	.|T;T;T	.|0.66099	.|-0.19;-0.19;-0.19	5.68|5.68	5.68|5.68	0.88126|0.88126	.|U3 small nucleolar RNA-associated protein 15, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84588|0.84588	0.5505|0.5505	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.87015|0.87015	0.2125|0.2125	5|10	.|0.87932	.|D	.|0	.|.	20.1467|20.1467	0.98079|0.98079	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|384;403	.|B4DXK8;Q8TED0	.|.;UTP15_HUMAN	Q|T	430|403;213;384	.|ENSP00000296792:R403T;ENSP00000440796:R213T;ENSP00000424609:R384T	.|ENSP00000296792:R403T	E|R	+|+	1|2	0|0	UTP15|UTP15	72910659|72910659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.810000|8.810000	0.91950|0.91950	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		4	60	0	0	0	0.000602	0	4	60				
AP3B1	8546	broad.mit.edu	37	5	77523357	77523357	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:77523357C>A	ENST00000255194.6	-	5	551		c.e5-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGTTTGGGTCCTAAAAATAGT	0.333									Hermansky-Pudlak syndrome																														uc003kfj.2		NA																	0				central_nervous_system(1)	1						c.e5-1		adaptor-related protein complex 3, beta 1							77.0	74.0	75.0					5																	77523357		2203	4300	6503	SO:0001630	splice_region_variant	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77523357C>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.376-1G>T	5.37:g.77523357C>A							p.D126_splice	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	5	501	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)						E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	SNP	ENST00000255194.6	37	c.376_splice	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494171	0.85069	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8416	0.92186	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B1	77559113	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.776000	0.85560	2.505000	0.84491	0.655000	0.94253	.		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		Intron	20	43	1	0	4.96729e-08	0.008871	5.44513e-08	20	43				
HAPLN1	1404	broad.mit.edu	37	5	82940454	82940454	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:82940454C>T	ENST00000274341.4	-	4	1353	c.503G>A	c.(502-504)gGg>gAg	p.G168E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	168	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATTGTAGCGCCCCAGTCGTGG	0.552																																							uc003kim.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(502-504)GGG>GAG		hyaluronan and proteoglycan link protein 1							34.0	32.0	33.0					5																	82940454		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940454C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.503G>A	5.37:g.82940454C>T	ENSP00000274341:p.Gly168Glu					HAPLN1_uc003kin.2_Missense_Mutation_p.G168E	p.G168E	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	574	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	168			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.503G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248019	0.95305	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.8	5.8	0.92144	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51733	-0.8668	10	0.59425	D	0.04	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	168	P10915	HPLN1_HUMAN	E	168;168;168;167	ENSP00000274341:G168E;ENSP00000422592:G168E;ENSP00000421341:G168E;ENSP00000426610:G167E	ENSP00000274341:G168E	G	-	2	0	HAPLN1	82976210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.733000	0.93635	0.650000	0.86243	GGG		0.552	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		17	28	0	0	0	0.006122	0	17	28				
GPR98	84059	broad.mit.edu	37	5	90281197	90281197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:90281197G>T	ENST00000405460.2	+	85	18106	c.18010G>T	c.(18010-18012)Gag>Tag	p.E6004*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.E1665*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6004					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGAATGATGAGCACACAGA	0.403																																							uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18010-18012)GAG>TAG		G protein-coupled receptor 98 precursor							297.0	285.0	289.0					5																	90281197		1990	4171	6161	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90281197G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18010G>T	5.37:g.90281197G>T	ENSP00000384582:p.Glu6004*					GPR98_uc003kjt.2_Nonsense_Mutation_p.E3710*|GPR98_uc003kjw.2_Nonsense_Mutation_p.E1665*|GPR98_uc003kjx.2_Nonsense_Mutation_p.E32*	p.E6004*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	85	18106	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6004			Cytoplasmic (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.18010G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	58	31.527235	0.99979	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8221	0.96602	0.0:0.0:1.0:0.0	.	.	.	.	X	6004;6004;1665	.	.	E	+	1	0	GPR98	90316953	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.488000	0.97947	2.690000	0.91761	0.557000	0.71058	GAG		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	37	1	0	9.31168e-06	0.001855	9.82287e-06	13	37				
KCNN2	3781	broad.mit.edu	37	5	113740334	113740334	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:113740334C>A	ENST00000512097.3	+	4	1800	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	KCNN2_ENST00000264773.3_Missense_Mutation_p.P261Q|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	261					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTATCTATACCAATGTTCTTA	0.428																																							uc003kqo.2		NA																	0				ovary(2)	2						c.(781-783)CCA>CAA		small conductance calcium-activated potassium							137.0	137.0	137.0					5																	113740334		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740334C>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.782C>A	5.37:g.113740334C>A	ENSP00000427120:p.Pro261Gln						p.P261Q	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1239	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	261			Helical; Name=Segment S4; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.782C>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633332	0.87660	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98926	-5.24;-5.24	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99346	1.0913	10	0.87932	D	0	-3.4006	18.8127	0.92064	0.0:1.0:0.0:0.0	.	261	Q9H2S1	KCNN2_HUMAN	Q	261	ENSP00000427120:P261Q;ENSP00000264773:P261Q	ENSP00000264773:P261Q	P	+	2	0	KCNN2	113768233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.536000	0.85505	0.561000	0.74099	CCA		0.428	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		38	155	1	0	4.14481e-20	0.00623	5.30969e-20	38	155				
DTWD2	285605	broad.mit.edu	37	5	118183839	118183839	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:118183839C>A	ENST00000510708.1	-	5	705	c.672G>T	c.(670-672)ctG>ctT	p.L224L	DTWD2_ENST00000304058.4_Silent_p.L158L|DTWD2_ENST00000515439.3_Silent_p.L128L	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	224										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTGCACACTCCAGTGTAGAAA	0.353																																							uc003ksa.2		NA																	0					0						c.(670-672)CTG>CTT		DTW domain containing 2							75.0	74.0	74.0					5																	118183839		2202	4300	6502	SO:0001819	synonymous_variant	285605							g.chr5:118183839C>A		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.672G>T	5.37:g.118183839C>A							p.L224L	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	5	706	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	224						Silent	SNP	ENST00000510708.1	37	c.672G>T	CCDS34216.1																																																																																				0.353	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		26	56	1	0	1.26454e-06	0.005443	1.36481e-06	26	56				
FTMT	94033	broad.mit.edu	37	5	121188292	121188292	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:121188292G>T	ENST00000321339.1	+	1	643	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	212	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGGTGACCACGTGCACAACTT	0.498																																							uc003kss.2		NA																	0				ovary(1)	1						c.(634-636)GTG>TTG		ferritin mitochondrial precursor							117.0	126.0	123.0					5																	121188292		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188292G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.634G>T	5.37:g.121188292G>T	ENSP00000313691:p.Val212Leu						p.V212L	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	643	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	212			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.634G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993759	0.35131	.	.	ENSG00000181867	ENST00000321339	T	0.57436	0.4	3.68	3.68	0.42216	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.172852	0.38778	N	0.001562	T	0.41328	0.1154	L	0.48877	1.53	0.51233	D	0.999919	B	0.20261	0.043	B	0.26969	0.075	T	0.22068	-1.0227	10	0.20046	T	0.44	.	7.2417	0.26100	0.1177:0.0:0.8823:0.0	.	212	Q8N4E7	FTMT_HUMAN	L	212	ENSP00000313691:V212L	ENSP00000313691:V212L	V	+	1	0	FTMT	121216191	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	2.382000	0.44345	2.338000	0.79540	0.609000	0.83330	GTG		0.498	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		78	177	1	0	1.88935e-48	0.00361	2.83983e-48	78	177				
LMNB1	4001	broad.mit.edu	37	5	126158531	126158531	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:126158531A>T	ENST00000261366.5	+	8	1806	c.1445A>T	c.(1444-1446)tAt>tTt	p.Y482F	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	482	LTD.|Tail.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TCAGTCAGTTATAAATATACC	0.388																																							uc003kud.1		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(1444-1446)TAT>TTT		lamin B1							88.0	84.0	85.0					5																	126158531		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126158531A>T	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1445A>T	5.37:g.126158531A>T	ENSP00000261366:p.Tyr482Phe					LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.Y272F	p.Y482F	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	8	1813	+		all_cancers(142;0.103)|Prostate(80;0.081)	482			Tail.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.1445A>T	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075862	0.55646	.	.	ENSG00000113368	ENST00000261366	D	0.98732	-5.1	5.89	5.89	0.94794	Intermediate filament, C-terminal (1);	0.063274	0.64402	D	0.000003	D	0.96399	0.8825	L	0.29908	0.895	0.80722	D	1	B	0.25206	0.12	B	0.37144	0.242	D	0.94117	0.7376	10	0.11794	T	0.64	.	11.4021	0.49876	0.8652:0.0:0.0:0.1348	.	482	P20700	LMNB1_HUMAN	F	482	ENSP00000261366:Y482F	ENSP00000261366:Y482F	Y	+	2	0	LMNB1	126186430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.020000	0.64066	2.246000	0.74042	0.533000	0.62120	TAT		0.388	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		17	16	0	0	0	0.007413	0	17	16				
FBN2	2201	broad.mit.edu	37	5	127614386	127614386	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:127614386C>A	ENST00000508053.1	-	63	8260	c.7286G>T	c.(7285-7287)gGa>gTa	p.G2429V	FBN2_ENST00000262464.4_Missense_Mutation_p.G2429V			P35556	FBN2_HUMAN	fibrillin 2	2429	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGGGCAGTTCCAGGAAGTGG	0.473																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7285-7287)GGA>GTA		fibrillin 2 precursor							111.0	104.0	106.0					5																	127614386		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614386C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7286G>T	5.37:g.127614386C>A	ENSP00000424571:p.Gly2429Val						p.G2429V	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	57	7725	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2429			TB 9.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.7286G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025481	0.75390	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93811	-3.29;-3.29	4.84	1.99	0.26369	Matrix fibril-associated (3);TGF-beta binding (1);	0.138709	0.32671	N	0.005787	D	0.96605	0.8892	M	0.92507	3.315	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94542	0.7746	10	0.29301	T	0.29	.	9.9303	0.41519	0.0:0.6427:0.2841:0.0732	.	2429	P35556	FBN2_HUMAN	V	2429	ENSP00000262464:G2429V;ENSP00000424571:G2429V	ENSP00000262464:G2429V	G	-	2	0	FBN2	127642285	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	4.703000	0.61824	0.302000	0.22762	0.650000	0.86243	GGA		0.473	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		36	110	1	0	4.17593e-13	0.007835	4.9011e-13	36	110				
SLC27A6	28965	broad.mit.edu	37	5	128362826	128362826	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:128362826G>T	ENST00000262462.4	+	7	2266	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	SLC27A6_ENST00000506176.1_Splice_Site_p.G419V|SLC27A6_ENST00000395266.1_Splice_Site_p.G419V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	419					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTCTTGCAGGAGAACCTGGA	0.388																																							uc003kuy.2		NA																	0					0						c.(1255-1257)GGA>GTA		solute carrier family 27 (fatty acid							74.0	77.0	76.0					5																	128362826		2203	4300	6503	SO:0001630	splice_region_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128362826G>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1256-1G>T	5.37:g.128362826G>T						SLC27A6_uc003kuz.2_Missense_Mutation_p.G419V	p.G419V	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	8	1652	+		all_cancers(142;0.0483)|Prostate(80;0.055)	419					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1256G>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179453	0.38511	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.62639	0.01;0.01;0.01	4.7	2.94	0.34122	AMP-dependent synthetase/ligase (1);	0.105893	0.64402	D	0.000004	D	0.84786	0.5549	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88288	0.2941	9	.	.	.	.	11.8111	0.52183	0.1443:0.0:0.8557:0.0	.	419	Q9Y2P4	S27A6_HUMAN	V	419	ENSP00000262462:G419V;ENSP00000378684:G419V;ENSP00000421024:G419V	.	G	+	2	0	SLC27A6	128390725	1.000000	0.71417	0.984000	0.44739	0.076000	0.17211	7.377000	0.79668	0.930000	0.37217	-0.899000	0.02877	GGA		0.388	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	Missense_Mutation	18	55	1	0	2.35188e-11	0.006122	2.70522e-11	18	55				
RAD50	10111	broad.mit.edu	37	5	131923747	131923747	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:131923747C>A	ENST00000265335.6	+	7	1404	c.1017C>A	c.(1015-1017)ctC>ctA	p.L339L	RAD50_ENST00000378823.3_Silent_p.L200L|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	339					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGCTTCTCAATCAGGAAA	0.343								Homologous recombination																															uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1015-1017)CTC>CTA	Homologous_recombination	RAD50 homolog isoform 1							78.0	73.0	75.0					5																	131923747		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131923747C>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1017C>A	5.37:g.131923747C>A						RAD50_uc003kxh.2_Silent_p.L200L	p.L339L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1404	+		all_cancers(142;0.0368)|Breast(839;0.198)	339			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.1017C>A	CCDS34233.1																																																																																				0.343	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		21	55	1	0	1.87028e-06	0.012319	1.99877e-06	21	55				
PCBD2	84105	broad.mit.edu	37	5	134246156	134246156	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:134246156G>T	ENST00000512783.1	+	2	236	c.216G>T	c.(214-216)caG>caT	p.Q72H	PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Splice_Site_p.Q72H			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	72					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTTAATCAGGTAATTGTTA	0.403																																							uc010jdz.2		NA																	0					0						c.(214-216)CAG>CAT		pterin-4 alpha-carbinolamine dehydratase 2							112.0	111.0	111.0					5																	134246156		1849	4079	5928	SO:0001630	splice_region_variant	84105				positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding	g.chr5:134246156G>T	AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"""6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"""			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.216+1G>T	5.37:g.134246156G>T						PCBD2_uc011cxw.1_Missense_Mutation_p.Q72H	p.Q72H	NM_032151	NP_115527	Q9H0N5	PHS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	236	+			72					Q8TD40	Missense_Mutation	SNP	ENST00000512783.1	37	c.216G>T	CCDS43364.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991191	0.74703	.	.	ENSG00000132570	ENST00000254908;ENST00000512783	D;D	0.90563	-2.69;-2.69	5.53	5.53	0.82687	.	0.058122	0.64402	D	0.000001	D	0.94098	0.8108	M	0.80508	2.5	0.80722	D	1	B	0.28713	0.22	P	0.44897	0.463	D	0.93182	0.6575	10	0.66056	D	0.02	-17.1846	17.9917	0.89171	0.0:0.0:1.0:0.0	.	72	Q9H0N5	PHS2_HUMAN	H	72	ENSP00000254908:Q72H;ENSP00000421544:Q72H	ENSP00000254908:Q72H	Q	+	3	2	PCBD2	134274055	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.253000	0.72453	2.745000	0.94114	0.563000	0.77884	CAG		0.403	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371578.1	NM_032151	Missense_Mutation	23	50	1	0	4.47668e-21	0.003954	5.78779e-21	23	50				
IL9	3578	broad.mit.edu	37	5	135231470	135231470	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:135231470G>A	ENST00000274520.1	-	1	46	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	12					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGAGCACAGGAGCAGGGCAG	0.572																																							uc003lbb.1		NA																	0					0						c.(34-36)CTC>CTT		interleukin 9 precursor							57.0	62.0	60.0					5																	135231470		2203	4300	6503	SO:0001819	synonymous_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231470G>A	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.36C>T	5.37:g.135231470G>A							p.L12L	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	47	-			12						Silent	SNP	ENST00000274520.1	37	c.36C>T	CCDS4189.1																																																																																				0.572	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		18	71	0	0	0	0.010504	0	18	71				
TRPC7	57113	broad.mit.edu	37	5	135692704	135692704	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:135692704G>T	ENST00000513104.1	-	2	654	c.372C>A	c.(370-372)gcC>gcA	p.A124A	TRPC7_ENST00000426057.2_Silent_p.A124A|TRPC7_ENST00000355180.3_Silent_p.A124A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	124					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTTGAGGATGGCCTCCACGA	0.657																																							uc003lbn.1		NA																	0					0						c.(367-369)GCC>GCA		transient receptor potential cation channel,							61.0	67.0	65.0					5																	135692704		2203	4300	6503	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692704G>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.372C>A	5.37:g.135692704G>T						TRPC7_uc010jef.1_Silent_p.A115A|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.A115A|TRPC7_uc010jei.1_Silent_p.A115A|TRPC7_uc010jej.1_5'UTR	p.A123A	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	372	-			124			Cytoplasmic (Potential).|ANK 3.		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.369C>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205368	0.22205	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	4.9	1.86	0.25419	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46748	-0.9169	4	.	.	.	-16.5786	6.9283	0.24428	0.0903:0.0:0.3804:0.5293	.	.	.	.	N	124	.	.	H	-	1	0	TRPC7	135720603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.863000	0.48396	0.662000	0.31006	0.561000	0.74099	CAT		0.657	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		43	68	1	0	1.32136e-16	0.00874	1.62884e-16	43	68				
PKD2L2	27039	broad.mit.edu	37	5	137243525	137243525	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:137243525A>G	ENST00000508883.1	+	7	1096	c.1070A>G	c.(1069-1071)gAt>gGt	p.D357G	PKD2L2_ENST00000350250.4_Missense_Mutation_p.D323G|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D335G|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D357G|PKD2L2_ENST00000508638.1_Missense_Mutation_p.D357G			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	357					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAATATTCAGATTTCTATTTT	0.274																																							uc003lby.2		NA																	0					0						c.(1069-1071)GAT>GGT		polycystic kidney disease 2-like 2							78.0	68.0	71.0					5																	137243525		1784	4058	5842	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137243525A>G	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1070A>G	5.37:g.137243525A>G	ENSP00000424725:p.Asp357Gly					PKD2L2_uc003lbw.1_Missense_Mutation_p.D357G|PKD2L2_uc003lbx.2_Missense_Mutation_p.D357G|PKD2L2_uc011cyi.1_5'UTR	p.D357G	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1126	+			357			Extracellular (Potential).		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1070A>G		.	.	.	.	.	.	.	.	.	.	A	20.5	4.002024	0.74932	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.71	5.71	0.89125	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000002	T	0.81484	0.4832	M	0.75615	2.305	0.44214	D	0.99704	P;D;P	0.64830	0.639;0.994;0.901	P;P;P	0.58970	0.72;0.849;0.634	T	0.83105	-0.0126	10	0.54805	T	0.06	-16.0264	15.6388	0.76977	1.0:0.0:0.0:0.0	.	357;357;357	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	G	323;357;335;357;357	ENSP00000344177:D323G;ENSP00000423382:D357G;ENSP00000425513:D335G;ENSP00000424725:D357G;ENSP00000290431:D357G	ENSP00000290431:D357G	D	+	2	0	PKD2L2	137271424	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.115000	0.77110	2.189000	0.69895	0.402000	0.26972	GAT		0.274	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		15	35	0	0	0	0.00245	0	15	35				
PCDHA9	9752	broad.mit.edu	37	5	140229520	140229520	+	Silent	SNP	G	G	A	rs533128247		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140229520G>A	ENST00000532602.1	+	1	2473	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.R480R|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGCGCGGGACGCTGACG	0.652																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1438-1440)CGG>CGA		protocadherin alpha 9 isoform 1 precursor							58.0	64.0	62.0					5																	140229520		2195	4267	6462	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229520G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1440G>A	5.37:g.140229520G>A						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_uc003lht.1_Silent_p.R480R	p.R480R	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2164	+			480			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1440G>A	CCDS54920.1																																																																																				0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		56	157	0	0	0	0.00361	0	56	157				
PCDHB10	56126	broad.mit.edu	37	5	140572234	140572234	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140572234G>A	ENST00000239446.4	+	1	293	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGTGACTGAGGAAACAGA	0.507																																							uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(109-111)GAG>AAG		protocadherin beta 10 precursor							72.0	81.0	78.0					5																	140572234		2198	4295	6493	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572234G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.109G>A	5.37:g.140572234G>A	ENSP00000239446:p.Glu37Lys						p.E37K	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	283	+			37			Extracellular (Potential).|Cadherin 1.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.109G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908102	0.72868	.	.	ENSG00000120324	ENST00000239446	T	0.60299	0.2	3.35	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	D	0.85457	0.5701	H	0.99238	4.48	0.48696	D	0.999699	D	0.89917	1.0	D	0.97110	1.0	D	0.91879	0.5514	9	0.87932	D	0	.	15.0182	0.71605	0.0:0.0:1.0:0.0	.	37	Q9UN67	PCDBA_HUMAN	K	37	ENSP00000239446:E37K	ENSP00000239446:E37K	E	+	1	0	PCDHB10	140552418	1.000000	0.71417	0.882000	0.34594	0.532000	0.34746	9.518000	0.98022	1.925000	0.55765	0.549000	0.68633	GAG		0.507	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		65	120	0	0	0	0.00361	0	65	120				
SLC25A2	83884	broad.mit.edu	37	5	140683154	140683154	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140683154C>G	ENST00000239451.4	-	1	458	c.279G>C	c.(277-279)agG>agC	p.R93S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	93					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CAGCCACTTTCCTGACAAACT	0.597																																							uc003ljf.2		NA																	0				ovary(1)	1						c.(277-279)AGG>AGC		solute carrier family 25 member 2	L-Ornithine(DB00129)						90.0	92.0	92.0					5																	140683154		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683154C>G	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.279G>C	5.37:g.140683154C>G	ENSP00000239451:p.Arg93Ser						p.R93S	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	459	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	93					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.279G>C	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	0.468	-0.885613	0.02511	.	.	ENSG00000120329	ENST00000239451	T	0.78126	-1.15	3.78	2.0	0.26442	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	T	0.61874	0.2382	L	0.33093	0.98	0.19300	N	0.999972	B	0.15930	0.015	B	0.15052	0.012	T	0.42430	-0.9452	10	0.18276	T	0.48	-8.0395	7.8267	0.29320	0.0:0.789:0.0:0.211	.	93	Q9BXI2	ORNT2_HUMAN	S	93	ENSP00000239451:R93S	ENSP00000239451:R93S	R	-	3	2	SLC25A2	140663338	0.059000	0.20769	0.002000	0.10522	0.007000	0.05969	0.239000	0.18023	0.593000	0.29745	0.650000	0.86243	AGG		0.597	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		3	132	0	0	0	0.004672	0	3	132				
SLC25A2	83884	broad.mit.edu	37	5	140683179	140683179	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140683179T>C	ENST00000239451.4	-	1	433	c.254A>G	c.(253-255)tAc>tGc	p.Y85C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	85					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCAGAACCCGTAGCACATGAA	0.592																																							uc003ljf.2		NA																	0				ovary(1)	1						c.(253-255)TAC>TGC		solute carrier family 25 member 2	L-Ornithine(DB00129)						90.0	91.0	90.0					5																	140683179		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683179T>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.254A>G	5.37:g.140683179T>C	ENSP00000239451:p.Tyr85Cys						p.Y85C	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	434	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	85			Helical; Name=2; (Potential).|Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.254A>G	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804625	0.31961	.	.	ENSG00000120329	ENST00000239451	D	0.84944	-1.92	3.79	1.19	0.21007	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.90511	0.7027	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88316	0.2959	10	0.66056	D	0.02	-21.8987	7.6927	0.28577	0.3329:0.0:0.0:0.6671	.	85	Q9BXI2	ORNT2_HUMAN	C	85	ENSP00000239451:Y85C	ENSP00000239451:Y85C	Y	-	2	0	SLC25A2	140663363	1.000000	0.71417	0.831000	0.32960	0.043000	0.13939	4.311000	0.59147	0.247000	0.21414	0.454000	0.30748	TAC		0.592	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		11	114	0	0	0	0.010729	0	11	114				
PCDHGA3	56112	broad.mit.edu	37	5	140723888	140723888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140723888C>A	ENST00000253812.6	+	1	288	c.288C>A	c.(286-288)tgC>tgA	p.C96*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGATCC	0.448																																							uc003ljm.1		NA																	0				breast(1)	1						c.(286-288)TGC>TGA		protocadherin gamma subfamily A, 3 isoform 1							40.0	46.0	44.0					5																	140723888		2129	4280	6409	SO:0001587	stop_gained	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723888C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.288C>A	5.37:g.140723888C>A	ENSP00000253812:p.Cys96*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Nonsense_Mutation_p.C96*	p.C96*	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	288	+			96			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Nonsense_Mutation	SNP	ENST00000253812.6	37	c.288C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.45	2.837361	0.50951	.	.	ENSG00000254245	ENST00000253812	.	.	.	5.65	-0.364	0.12553	.	0.000000	0.36374	U	0.002622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1599	0.48509	0.0:0.547:0.0:0.453	.	.	.	.	X	96	.	ENSP00000253812:C96X	C	+	3	2	PCDHGA3	140704072	0.020000	0.18652	0.870000	0.34147	0.571000	0.35966	-0.340000	0.07821	-0.075000	0.12798	-0.137000	0.14449	TGC		0.448	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		36	74	1	0	4.65686e-17	0.003755	5.78419e-17	36	74				
PCDHGB1	56104	broad.mit.edu	37	5	140731136	140731136	+	Missense_Mutation	SNP	C	C	A	rs191804700		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140731136C>A	ENST00000523390.1	+	1	1309	c.1309C>A	c.(1309-1311)Cac>Aac	p.H437N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCCTGCACATCTCCGA	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.001		0.0	False		,,,				2504	0.0						uc003ljo.1		NA																	0					0						c.(1309-1311)CAC>AAC		protocadherin gamma subfamily B, 1 isoform 1							91.0	104.0	100.0					5																	140731136		2178	4279	6457	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731136C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1309C>A	5.37:g.140731136C>A	ENSP00000429273:p.His437Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.H437N	p.H437N	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1309	+			437			Extracellular (Potential).|Cadherin 4.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.1309C>A	CCDS54923.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	0.004	-2.361869	0.00214	.	.	ENSG00000254221	ENST00000523390	T	0.01665	4.7	5.49	1.74	0.24563	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.45744	1.44	0.09310	N	1	B;B	0.17465	0.016;0.022	B;B	0.26693	0.029;0.072	T	0.50092	-0.8868	9	0.17369	T	0.5	.	1.8538	0.03174	0.1106:0.4151:0.1912:0.2831	.	437;437	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	N	437	ENSP00000429273:H437N	ENSP00000429273:H437N	H	+	1	0	PCDHGB1	140711320	0.000000	0.05858	0.007000	0.13788	0.216000	0.24613	-1.395000	0.02516	0.098000	0.17522	-0.253000	0.11424	CAC		0.547	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		17	52	1	0	1.40151e-16	0.010504	1.72331e-16	17	52				
PCDH1	5097	broad.mit.edu	37	5	141244125	141244125	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:141244125T>A	ENST00000394536.3	-	3	1910	c.1771A>T	c.(1771-1773)Agc>Tgc	p.S591C	PCDH1_ENST00000287008.3_Missense_Mutation_p.S591C|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.S579C|PCDH1_ENST00000536585.1_Missense_Mutation_p.S569C|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	591	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTGGAGGCTAGGACTGCCC	0.542																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	0				ovary(5)	5						c.(1771-1773)AGC>TGC		protocadherin 1 isoform 1 precursor							63.0	54.0	57.0					5																	141244125		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244125T>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1771A>T	5.37:g.141244125T>A	ENSP00000378043:p.Ser591Cys					PCDH1_uc003llp.2_Missense_Mutation_p.S591C|PCDH1_uc011dbf.1_Missense_Mutation_p.S569C	p.S591C	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1888	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	591			Extracellular (Potential).|Cadherin 5.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.1771A>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	10.69	1.421784	0.25639	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.76	5.76	0.90799	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000007	T	0.64516	0.2605	M	0.91972	3.26	0.54753	D	0.999981	B;B	0.21452	0.056;0.045	B;B	0.27608	0.081;0.049	T	0.67554	-0.5641	10	0.72032	D	0.01	.	14.0375	0.64654	0.0:0.0:0.0:1.0	.	591;591	Q08174;Q08174-2	PCDH1_HUMAN;.	C	591;591;579;602;569	ENSP00000287008:S591C;ENSP00000378043:S591C;ENSP00000403497:S579C;ENSP00000350122:S602C;ENSP00000438825:S569C	ENSP00000287008:S591C	S	-	1	0	PCDH1	141224309	0.651000	0.27340	1.000000	0.80357	0.974000	0.67602	1.381000	0.34362	2.212000	0.71576	0.454000	0.30748	AGC		0.542	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		10	85	0	0	0	0.006214	0	10	85				
LARS	51520	broad.mit.edu	37	5	145552329	145552329	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:145552329T>A	ENST00000394434.2	-	3	300	c.134A>T	c.(133-135)aAg>aTg	p.K45M	LARS_ENST00000274562.9_Missense_Mutation_p.K45M|LARS_ENST00000545646.1_Missense_Mutation_p.K45M|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_De_novo_Start_InFrame	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	45					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAAAATACTTGCCCTTGCT	0.358																																							uc003lnx.1		NA																	0					0						c.(133-135)AAG>ATG		leucyl-tRNA synthetase	L-Leucine(DB00149)						88.0	82.0	84.0					5																	145552329		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145552329T>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.134A>T	5.37:g.145552329T>A	ENSP00000377954:p.Lys45Met					LARS_uc011dbq.1_Missense_Mutation_p.K45M|LARS_uc011dbr.1_Translation_Start_Site|LARS_uc011dbs.1_Missense_Mutation_p.K45M	p.K45M	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	372	-			45					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.134A>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591910	0.86953	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000274562;ENST00000360930	T;T;T	0.80393	-1.37;-1.37;-1.37	5.79	5.79	0.91817	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.049000	0.85682	D	0.000000	D	0.93759	0.8005	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.996;0.946;0.993	D	0.95963	0.8963	10	0.87932	D	0	0.2364	16.1351	0.81476	0.0:0.0:0.0:1.0	.	45;45;45	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	M	45	ENSP00000377954:K45M;ENSP00000437791:K45M;ENSP00000274562:K45M	ENSP00000274562:K45M	K	-	2	0	LARS	145532522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.374000	0.79633	2.219000	0.72066	0.528000	0.53228	AAG		0.358	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		8	37	0	0	0	0.006214	0	8	37				
FAT2	2196	broad.mit.edu	37	5	150914137	150914137	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:150914137G>A	ENST00000261800.5	-	12	9272	c.9260C>T	c.(9259-9261)gCg>gTg	p.A3087V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3087	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATCCGTCGCCTTGGCAAC	0.562																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(9259-9261)GCG>GTG		FAT tumor suppressor 2 precursor							115.0	97.0	103.0					5																	150914137		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150914137G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9260C>T	5.37:g.150914137G>A	ENSP00000261800:p.Ala3087Val					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank	p.A3087V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	9273	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3087			Extracellular (Potential).|Cadherin 27.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9260C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440193	0.96168	.	.	ENSG00000086570	ENST00000261800	T	0.66099	-0.19	5.6	5.6	0.85130	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000022	T	0.80752	0.4683	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78244	-0.2279	10	0.32370	T	0.25	.	19.6156	0.95632	0.0:0.0:1.0:0.0	.	3087	Q9NYQ8	FAT2_HUMAN	V	3087	ENSP00000261800:A3087V	ENSP00000261800:A3087V	A	-	2	0	FAT2	150894330	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	9.787000	0.99055	2.640000	0.89533	0.563000	0.77884	GCG		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		66	78	0	0	0	0.00361	0	66	78				
GABRA1	2554	broad.mit.edu	37	5	161318005	161318005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161318005C>T	ENST00000428797.2	+	9	1160	c.805C>T	c.(805-807)Caa>Taa	p.Q269*	GABRA1_ENST00000023897.6_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.Q269*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	269					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GATTCTCTCACAAGTCTCCTT	0.408																																							uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(805-807)CAA>TAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						134.0	128.0	130.0					5																	161318005		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161318005C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.805C>T	5.37:g.161318005C>T	ENSP00000393097:p.Gln269*					GABRA1_uc010jix.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.Q269*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.Q269*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jja.2_Nonsense_Mutation_p.Q269*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.Q269*	p.Q269*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1273	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	269			Helical; (Probable).		D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.805C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	37	6.038677	0.97226	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4464	0.94849	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000023897:Q269X	Q	+	1	0	GABRA1	161250583	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	7.684000	0.84104	2.603000	0.88011	0.650000	0.86243	CAA		0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		42	80	0	0	0	0.009718	0	42	80				
GABRG2	2566	broad.mit.edu	37	5	161569232	161569232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161569232C>A	ENST00000361925.4	+	7	1052	c.832C>A	c.(832-834)Cag>Aag	p.Q278K	GABRG2_ENST00000356592.3_Missense_Mutation_p.Q278K|GABRG2_ENST00000393933.4_Missense_Mutation_p.Q183K|GABRG2_ENST00000414552.2_Missense_Mutation_p.Q318K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	278					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTACCATCCAGACCTATAT	0.443																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(832-834)CAG>AAG		gamma-aminobutyric acid A receptor, gamma 2							309.0	264.0	279.0					5																	161569232		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161569232C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.832C>A	5.37:g.161569232C>A	ENSP00000354651:p.Gln278Lys					GABRG2_uc010jjc.2_Missense_Mutation_p.Q318K|GABRG2_uc003lyy.3_Missense_Mutation_p.Q278K|GABRG2_uc011dej.1_Missense_Mutation_p.Q183K	p.Q278K	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	7	1190	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	278			Helical; (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.832C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430867	0.96150	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94853	0.8337	H	0.94542	3.55	0.80722	D	1	D;D;D	0.62365	0.991;0.982;0.989	D;P;P	0.69824	0.966;0.806;0.905	D	0.95601	0.8663	10	0.87932	D	0	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	318;278;278	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	278;318;278;183;183	ENSP00000349000:Q278K;ENSP00000410732:Q318K;ENSP00000354651:Q278K;ENSP00000377510:Q183K;ENSP00000430182:Q183K	ENSP00000349000:Q278K	Q	+	1	0	GABRG2	161501810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.719000	0.93026	0.655000	0.94253	CAG		0.443	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			36	134	1	0	4.46736e-08	0.005524	4.90259e-08	36	134				
GABRG2	2566	broad.mit.edu	37	5	161580209	161580209	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161580209C>A	ENST00000361925.4	+	9	1459	c.1239C>A	c.(1237-1239)gaC>gaA	p.D413E	GABRG2_ENST00000356592.3_Missense_Mutation_p.D421E|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318E|GABRG2_ENST00000414552.2_Missense_Mutation_p.D461E			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGGCAAGGACTGTGCCAGTT	0.458																																							uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1237-1239)GAC>GAA		gamma-aminobutyric acid A receptor, gamma 2							216.0	201.0	206.0					5																	161580209		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580209C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1239C>A	5.37:g.161580209C>A	ENSP00000354651:p.Asp413Glu					GABRG2_uc010jjc.2_Missense_Mutation_p.D461E|GABRG2_uc003lyy.3_Missense_Mutation_p.D421E|GABRG2_uc011dej.1_Missense_Mutation_p.D318E	p.D413E	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1597	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	413			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1239C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840845	0.32513	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.044958	0.85682	D	0.000000	T	0.72479	0.3465	N	0.12746	0.255	0.80722	D	1	B;B;B	0.28850	0.225;0.002;0.032	B;B;B	0.33750	0.169;0.022;0.049	T	0.68112	-0.5495	10	0.07482	T	0.82	.	13.5695	0.61838	0.0:0.9294:0.0:0.0706	.	461;413;421	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	E	421;461;413;318	ENSP00000349000:D421E;ENSP00000410732:D461E;ENSP00000354651:D413E;ENSP00000377510:D318E	ENSP00000349000:D421E	D	+	3	2	GABRG2	161512787	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.003000	0.57061	2.824000	0.97209	0.655000	0.94253	GAC		0.458	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			49	93	1	0	5.34276e-22	0.00361	6.9812e-22	49	93				
WWC1	23286	broad.mit.edu	37	5	167891839	167891839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:167891839G>T	ENST00000265293.4	+	21	3524	c.3022G>T	c.(3022-3024)Gag>Tag	p.E1008*	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Nonsense_Mutation_p.E1014*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1008	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATTGACCCAGGAGATCTCGGT	0.607																																							uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(3022-3024)GAG>TAG		WW and C2 domain containing 1 isoform 3							78.0	75.0	76.0					5																	167891839		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891839G>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3022G>T	5.37:g.167891839G>T	ENSP00000265293:p.Glu1008*					WWC1_uc003lzv.2_Nonsense_Mutation_p.E1014*|WWC1_uc011den.1_Nonsense_Mutation_p.E1014*|WWC1_uc003lzw.2_Nonsense_Mutation_p.E807*|WWC1_uc010jjf.1_Nonsense_Mutation_p.E280*	p.E1008*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3115	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	1008			Potential.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.3022G>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.641672|9.641672	0.99227|0.99227	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74612	.|0.3739	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73908	.|-0.3834	.|3	0.87932|.	D|.	0|.	.|.	18.6288|18.6288	0.91352|0.91352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1008;1014;340|975;784	.|.	ENSP00000265293:E1008X|.	E|G	+|+	1|2	0|0	WWC1|WWC1	167824417|167824417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	9.807000|9.807000	0.99171|0.99171	2.405000|2.405000	0.81733|0.81733	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.607	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		44	95	1	0	2.68985e-26	0.00361	3.65104e-26	44	95				
NKX2-5	1482	broad.mit.edu	37	5	172660066	172660066	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:172660066G>T	ENST00000329198.4	-	2	754	c.481C>A	c.(481-483)Cgg>Agg	p.R161R	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	161			R -> P (in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant- negative effect which was associated with reduced DNA binding). {ECO:0000269|PubMed:16418214}.		adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACAGGTACCGCTGCTGCTTG	0.672																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1		NA																	0				central_nervous_system(1)	1						c.(481-483)CGG>AGG		NK2 transcription factor related, locus 5							16.0	14.0	15.0					5																	172660066		2202	4298	6500	SO:0001819	synonymous_variant	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172660066G>T	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.481C>A	5.37:g.172660066G>T						NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	p.R161R	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	657	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	161		R -> P (in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant- negative effect which was associated with reduced DNA binding).	Homeobox.		A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	c.481C>A	CCDS4387.1																																																																																				0.672	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			11	13	1	0	7.03913e-09	0.001368	7.79474e-09	11	13				
EIF4E1B	253314	broad.mit.edu	37	5	176070154	176070154	+	Silent	SNP	G	G	T	rs143370383		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:176070154G>T	ENST00000318682.6	+	4	671	c.87G>T	c.(85-87)acG>acT	p.T29T	EIF4E1B_ENST00000504597.1_Silent_p.T29T	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	29					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGAGGACGCCCACAGGAG	0.592																																							uc010jkf.1		NA																	0					0						c.(85-87)ACG>ACT		eukaryotic translation initiation factor 4E							41.0	52.0	48.0					5																	176070154		2026	4184	6210	SO:0001819	synonymous_variant	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176070154G>T		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.87G>T	5.37:g.176070154G>T							p.T29T	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	671	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	29						Silent	SNP	ENST00000318682.6	37	c.87G>T	CCDS47345.1																																																																																				0.592	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		28	56	1	0	7.41945e-09	0.005443	8.20662e-09	28	56				
GRM6	2916	broad.mit.edu	37	5	178416024	178416024	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:178416024G>T	ENST00000517717.1	-	7	1304	c.1266C>A	c.(1264-1266)ctC>ctA	p.L422L	GRM6_ENST00000231188.5_Silent_p.L422L|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	422					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCCAGGGCAGAGCGCCTGGT	0.627																																							uc003mjr.2		NA																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1264-1266)CTC>CTA		glutamate receptor, metabotropic 6 precursor							101.0	89.0	93.0					5																	178416024		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416024G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1266C>A	5.37:g.178416024G>T						GRM6_uc010jla.1_Silent_p.L5L|GRM6_uc003mjs.1_Silent_p.L42L	p.L422L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	6	1445	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	422			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.1266C>A	CCDS4442.1																																																																																				0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			12	35	1	0	1.36491e-13	0.001855	1.61158e-13	12	35				
CANX	821	broad.mit.edu	37	5	179143205	179143205	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:179143205G>A	ENST00000247461.4	+	8	1021	c.821G>A	c.(820-822)cGt>cAt	p.R274H	CANX_ENST00000452673.2_Missense_Mutation_p.R274H|CANX_ENST00000504734.1_Missense_Mutation_p.R274H|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000512607.2_Missense_Mutation_p.R166H|CANX_ENST00000415618.2_Missense_Mutation_p.R309H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	274					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	AATCCTTCACGTGAAATTGAG	0.448																																							uc003mkk.2		NA																	0					0						c.(820-822)CGT>CAT		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						107.0	108.0	107.0					5																	179143205		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179143205G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.821G>A	5.37:g.179143205G>A	ENSP00000247461:p.Arg274His					CANX_uc011dgp.1_Missense_Mutation_p.R309H|CANX_uc010jlb.1_Missense_Mutation_p.R210H|CANX_uc003mkl.2_Missense_Mutation_p.R274H|CANX_uc011dgq.1_Missense_Mutation_p.R166H	p.R274H	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	998	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	274			Lumenal (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.821G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842316	0.51057	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000354394;ENST00000376953	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.13	2.36	0.29203	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.439616	0.28871	N	0.013876	T	0.42131	0.1189	L	0.57536	1.79	0.21697	N	0.99959	B;P;B	0.50369	0.32;0.934;0.049	B;B;B	0.43889	0.174;0.435;0.112	T	0.37596	-0.9699	10	0.72032	D	0.01	-3.945	5.9594	0.19291	0.2218:0.1373:0.6409:0.0	.	309;210;274	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	H	274;309;274;274;210;166;254;210	ENSP00000424063:R274H;ENSP00000394817:R309H;ENSP00000391646:R274H;ENSP00000247461:R274H;ENSP00000421107:R210H;ENSP00000423588:R166H	ENSP00000247461:R274H	R	+	2	0	CANX	179075811	0.990000	0.36364	0.996000	0.52242	0.998000	0.95712	2.369000	0.44231	0.182000	0.20032	0.549000	0.68633	CGT		0.448	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		7	102	0	0	0	0.001984	0	7	102				
SERPINB9	5272	broad.mit.edu	37	6	2892192	2892192	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:2892192G>C	ENST00000380698.4	-	6	687	c.598C>G	c.(598-600)Cag>Gag	p.Q200E		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	200					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGGCCTCCTGATACATCATC	0.567																																							uc003mug.2		NA																	0					0						c.(598-600)CAG>GAG		serpin peptidase inhibitor, clade B, member 9							74.0	75.0	74.0					6																	2892192		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2892192G>C	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.598C>G	6.37:g.2892192G>C	ENSP00000370074:p.Gln200Glu					uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.Q3E	p.Q200E	NM_004155	NP_004146	P50453	SPB9_HUMAN			6	719	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	200					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.598C>G	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446624	0.63178	.	.	ENSG00000170542	ENST00000380698	D	0.84944	-1.92	4.07	4.07	0.47477	Serpin domain (3);	0.412070	0.28566	N	0.014896	D	0.86414	0.5927	M	0.89163	3.01	0.35190	D	0.773258	P	0.38129	0.619	P	0.45310	0.476	D	0.88962	0.3394	10	0.66056	D	0.02	.	11.4983	0.50422	0.0:0.0:0.7184:0.2816	.	200	P50453	SPB9_HUMAN	E	200	ENSP00000370074:Q200E	ENSP00000370074:Q200E	Q	-	1	0	SERPINB9	2837191	0.002000	0.14202	0.845000	0.33349	0.212000	0.24457	1.135000	0.31454	2.559000	0.86315	0.655000	0.94253	CAG		0.567	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			32	163	0	0	0	0.003755	0	32	163				
KIF13A	63971	broad.mit.edu	37	6	17764912	17764912	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:17764912G>C	ENST00000259711.6	-	39	4952	c.4847C>G	c.(4846-4848)tCt>tGt	p.S1616C	KIF13A_ENST00000378816.5_Missense_Mutation_p.S1581C|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1568C|KIF13A_ENST00000378814.5_Missense_Mutation_p.S1568C|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1581C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1616					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGTCACTAGAAGGGACCAC	0.547																																							uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(4846-4848)TCT>TGT		kinesin family member 13A isoform a							73.0	74.0	74.0					6																	17764912		2052	4197	6249	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764912G>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4847C>G	6.37:g.17764912G>C	ENSP00000259711:p.Ser1616Cys					KIF13A_uc003ncf.2_Missense_Mutation_p.S1568C|KIF13A_uc003nch.3_Missense_Mutation_p.S1581C|KIF13A_uc003nci.3_Missense_Mutation_p.S1568C|KIF13A_uc003nce.1_Missense_Mutation_p.S167C	p.S1616C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		39	4952	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1616					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4847C>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638240	0.29157	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	6.08	5.19	0.71726	.	0.377683	0.27375	N	0.019652	T	0.22166	0.0534	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.003;0.002;0.002	T	0.12218	-1.0556	10	0.42905	T	0.14	.	16.2184	0.82243	0.0:0.3098:0.6902:0.0	.	1568;1581;1616;1568	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	C	1568;620;1616;1581;1568;1581	ENSP00000368091:S1568C;ENSP00000425616:S620C;ENSP00000259711:S1616C;ENSP00000368103:S1581C;ENSP00000368120:S1568C;ENSP00000368093:S1581C	ENSP00000259711:S1616C	S	-	2	0	KIF13A	17872891	0.762000	0.28451	0.016000	0.15963	0.966000	0.64601	3.058000	0.49939	1.525000	0.49052	0.591000	0.81541	TCT		0.547	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			7	50	0	0	0	0.001984	0	7	50				
SLC17A3	10786	broad.mit.edu	37	6	25862648	25862648	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:25862648T>C	ENST00000360657.3	-	3	401	c.116A>G	c.(115-117)tAt>tGt	p.Y39C	SLC17A3_ENST00000397060.4_Missense_Mutation_p.Y39C|SLC17A3_ENST00000361703.6_Missense_Mutation_p.Y39C			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	39					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGCTATTCCATAGCGAGCAGA	0.353																																							uc003nfi.3		NA																	0					0						c.(115-117)TAT>TGT		solute carrier family 17 (sodium phosphate),							171.0	147.0	155.0					6																	25862648		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862648T>C	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.116A>G	6.37:g.25862648T>C	ENSP00000353873:p.Tyr39Cys					SLC17A3_uc003nfk.3_Missense_Mutation_p.Y39C|SLC17A3_uc011djz.1_Missense_Mutation_p.Y39C|SLC17A3_uc011dka.1_Missense_Mutation_p.Y39C	p.Y39C	NM_006632	NP_006623	O00476	NPT4_HUMAN			3	226	-			39					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.116A>G	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	T	6.714	0.500428	0.12762	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.67171	0.26;-0.25;-0.25	3.63	2.46	0.29980	.	0.874586	0.09488	N	0.795273	T	0.61553	0.2356	M	0.68952	2.095	0.09310	N	1	D;B;B;D	0.65815	0.995;0.121;0.22;0.995	P;B;B;P	0.57283	0.817;0.043;0.238;0.766	T	0.49716	-0.8910	10	0.56958	D	0.05	.	6.356	0.21402	0.2189:0.0:0.0:0.7811	.	39;20;39;39	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	C	39	ENSP00000380250:Y39C;ENSP00000353873:Y39C;ENSP00000355307:Y39C	ENSP00000353873:Y39C	Y	-	2	0	SLC17A3	25970627	0.042000	0.20092	0.094000	0.20943	0.011000	0.07611	1.002000	0.29796	0.726000	0.32339	-0.433000	0.05886	TAT		0.353	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			85	68	0	0	0	0.00361	0	85	68				
HIST1H4F	8361	broad.mit.edu	37	6	26240785	26240785	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:26240785G>C	ENST00000377745.2	+	1	225	c.132G>C	c.(130-132)gtG>gtC	p.V44V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	44					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCGGCGGCGTGAAACGCATTT	0.597																																							uc003nhe.1		NA																	0					0						c.(130-132)GTG>GTC		histone cluster 1, H4f							54.0	50.0	52.0					6																	26240785		2203	4300	6503	SO:0001819	synonymous_variant	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240785G>C	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.132G>C	6.37:g.26240785G>C							p.V44V	NM_003540	NP_003531	P62805	H4_HUMAN			1	132	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	44					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377745.2	37	c.132G>C	CCDS4598.1																																																																																				0.597	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		6	88	0	0	0	0.001168	0	6	88				
BTN2A2	10385	broad.mit.edu	37	6	26388325	26388325	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:26388325C>T	ENST00000356709.4	+	4	638	c.527C>T	c.(526-528)cCa>cTa	p.P176L	BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P60L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.P176L|BTN2A2_ENST00000416795.2_Missense_Mutation_p.P176L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	176	Ig-like C2-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGGTGGTACCCAGAGCCCCTC	0.587																																							uc003nhq.2		NA																	0					0						c.(526-528)CCA>CTA		butyrophilin, subfamily 2, member A2 isoform a							94.0	81.0	85.0					6																	26388325		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26388325C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.527C>T	6.37:g.26388325C>T	ENSP00000349143:p.Pro176Leu					BTN2A2_uc011dkf.1_Missense_Mutation_p.P60L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P60L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P176L|BTN2A2_uc003nht.2_Missense_Mutation_p.P176L|BTN2A2_uc011dki.1_5'Flank	p.P176L	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			4	613	+			176			Extracellular (Potential).|Ig-like C2-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.527C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.125790	0.56721	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	4.22	3.33	0.38152	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000058	T	0.73297	0.3569	M	0.91406	3.205	0.46823	D	0.999215	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.79286	-0.1866	10	0.87932	D	0	.	11.6248	0.51138	0.0:0.8179:0.1821:0.0	.	60;176;60;176	B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;BT2A2_HUMAN	L	176;176;60;176;60;176;60	ENSP00000417472:P176L;ENSP00000349143:P176L;ENSP00000337117:P60L;ENSP00000418857:P176L;ENSP00000419226:P60L;ENSP00000399308:P176L;ENSP00000418176:P60L	ENSP00000337117:P60L	P	+	2	0	BTN2A2	26496304	0.994000	0.37717	0.770000	0.31555	0.531000	0.34715	4.366000	0.59492	0.754000	0.32968	0.454000	0.30748	CCA		0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			51	74	0	0	0	0.00361	0	51	74				
DHX16	8449	broad.mit.edu	37	6	30640537	30640537	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:30640537G>C	ENST00000376442.3	-	1	277	c.82C>G	c.(82-84)Cag>Gag	p.Q28E		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	28					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						ATCAGAAACTGGGCGACGTGC	0.672																																							uc003nqz.2		NA																	0				ovary(2)|kidney(2)	4						c.(82-84)CAG>GAG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							50.0	50.0	50.0					6																	30640537		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30640537G>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.82C>G	6.37:g.30640537G>C	ENSP00000365625:p.Gln28Glu					DHX16_uc011dmo.1_Intron	p.Q28E	NM_003587	NP_003578	O60231	DHX16_HUMAN			1	294	-			28					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.82C>G	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401392	0.42613	.	.	ENSG00000204560	ENST00000376442	T	0.02579	4.24	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.01254	0.0041	L	0.42744	1.35	0.80722	D	1	B	0.25007	0.116	B	0.20767	0.031	T	0.51036	-0.8756	10	0.16420	T	0.52	.	12.4622	0.55738	0.0:0.1702:0.8298:0.0	.	28	O60231	DHX16_HUMAN	E	28	ENSP00000365625:Q28E	ENSP00000365625:Q28E	Q	-	1	0	DHX16	30748516	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	5.495000	0.66912	2.313000	0.78055	0.455000	0.32223	CAG		0.672	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		29	68	0	0	0	0.00632	0	29	68				
VWA7	80737	broad.mit.edu	37	6	31743834	31743834	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:31743834C>T	ENST00000375688.4	-	3	620	c.420G>A	c.(418-420)ctG>ctA	p.L140L	VWA7_ENST00000447450.1_Silent_p.L140L|VWA7_ENST00000467576.1_Intron|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000375686.3_Silent_p.L140L			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	140						extracellular region (GO:0005576)											GAGCCCCTACCAGGCGCGCGC	0.657																																							uc011dog.1		NA																	0				ovary(3)	3						c.(418-420)CTG>CTA		G7c protein precursor							63.0	68.0	66.0					6																	31743834		2203	4300	6503	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31743834C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.420G>A	6.37:g.31743834C>T						C6orf27_uc003nxd.2_Intron|C6orf27_uc011doh.1_RNA	p.L140L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			3	658	-			140					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.420G>A	CCDS4721.2																																																																																				0.657	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		26	189	0	0	0	0.003954	0	26	189				
SLC44A4	80736	broad.mit.edu	37	6	31836986	31836986	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:31836986G>A	ENST00000229729.6	-	13	1199	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N	SLC44A4_ENST00000544672.1_Silent_p.N317N|SLC44A4_ENST00000375562.4_Silent_p.N351N	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	393					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGGAGCTGATGTTGGATGCCC	0.567																																							uc010jti.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1177-1179)AAC>AAT		choline transporter-like protein 4	Choline(DB00122)						99.0	83.0	88.0					6																	31836986		1511	2709	4220	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31836986G>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1179C>T	6.37:g.31836986G>A							p.N393N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			13	1245	-			393			Extracellular (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1179C>T	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	G	5.853	0.341654	0.11069	.	.	ENSG00000204385	ENST00000414427	.	.	.	5.67	-0.283	0.12874	.	.	.	.	.	T	0.43831	0.1265	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	-13.6773	10.5214	0.44920	0.417:0.0:0.583:0.0	.	.	.	.	I	277	.	.	T	-	2	0	SLC44A4	31944965	0.139000	0.22563	0.069000	0.20011	0.173000	0.22820	0.160000	0.16462	0.011000	0.14865	-0.218000	0.12543	ACA		0.567	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			43	54	0	0	0	0.011902	0	43	54				
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:32166826A>G	ENST00000375023.3	-	24	4550	c.4412T>C	c.(4411-4413)aTc>aCc	p.I1471T	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4411-4413)ATC>ACC		notch4 preproprotein							40.0	50.0	46.0					6																	32166826		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166826A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4412T>C	6.37:g.32166826A>G	ENSP00000364163:p.Ile1471Thr					NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.I134T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	p.I1471T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			24	4551	-			1471			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4412T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038684	0.55003	.	.	ENSG00000204301	ENST00000375023	T	0.80994	-1.44	4.9	4.9	0.64082	.	0.363413	0.20249	N	0.096138	T	0.68201	0.2975	L	0.38175	1.15	0.80722	D	1	D;B	0.57257	0.979;0.361	P;B	0.55055	0.767;0.086	T	0.66069	-0.6015	10	0.11485	T	0.65	.	8.9676	0.35885	0.8128:0.1872:0.0:0.0	.	1471;1470	Q99466;B0S882	NOTC4_HUMAN;.	T	1471	ENSP00000364163:I1471T	ENSP00000364163:I1471T	I	-	2	0	NOTCH4	32274804	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	2.467000	0.45093	2.186000	0.69663	0.454000	0.30748	ATC		0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			44	93	0	0	0	0.007835	0	44	93				
TAP2	6891	broad.mit.edu	37	6	32803116	32803116	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:32803116T>A	ENST00000452392.2	-	5	933	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	TAP2_ENST00000374897.2_Missense_Mutation_p.S254C|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.S254C			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	GTATCCGAGCTCAGCCGTGAG	0.542																																							uc003occ.2		NA																	0					0						c.(760-762)AGC>TGC		transporter 2, ATP-binding cassette, sub-family							88.0	77.0	81.0					6																	32803116		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32803116T>A	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.760A>T	6.37:g.32803116T>A	ENSP00000391806:p.Ser254Cys					TAP2_uc011dqf.1_Missense_Mutation_p.S254C|TAP2_uc003ocb.1_Missense_Mutation_p.S254C|TAP2_uc003ocd.2_Missense_Mutation_p.S254C	p.S254C	NM_018833	NP_061313	Q03519	TAP2_HUMAN			4	791	-			254			Cytoplasmic (Potential).|ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.760A>T		.	.	.	.	.	.	.	.	.	.	T	19.44	3.828086	0.71143	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.91237	-2.81;-2.81;-2.81	5.3	2.64	0.31445	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.782162	0.12163	N	0.493734	D	0.94324	0.8176	M	0.89840	3.065	0.43160	D	0.994941	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70935	0.971;0.968;0.968;0.968	D	0.92152	0.5729	9	0.87932	D	0	-20.8509	9.3417	0.38085	0.2288:0.0:0.0:0.7712	.	254;255;254;254	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	C	254	ENSP00000364034:S254C;ENSP00000364032:S254C;ENSP00000391806:S254C	ENSP00000364032:S254C	S	-	1	0	XXbac-BPG246D15.9;TAP2	32911094	0.806000	0.28996	0.999000	0.59377	0.966000	0.64601	0.486000	0.22340	1.992000	0.58205	0.443000	0.29094	AGC		0.542	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		51	63	0	0	0	0.00361	0	51	63				
PGC	5225	broad.mit.edu	37	6	41712451	41712451	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:41712451C>G	ENST00000373025.3	-	2	217	c.155G>C	c.(154-156)tGg>tCg	p.W52S	PGC_ENST00000425343.2_Missense_Mutation_p.W52S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	52				W -> S (in Ref. 10; AA sequence). {ECO:0000305}.	digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCGGTACTTCCAAGCAGGATC	0.542																																							uc003ora.1		NA																	0					0						c.(154-156)TGG>TCG		progastricsin (pepsinogen C) precursor							89.0	74.0	79.0					6																	41712451		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712451C>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.155G>C	6.37:g.41712451C>G	ENSP00000362116:p.Trp52Ser						p.W52S	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		2	204	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		52	W -> S (in Ref. 9; AA sequence).				B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.155G>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.362633	0.01235	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.60920	1.71;0.15;0.49;0.49	5.18	-8.2	0.01045	Peptidase aspartic (1);	3.519140	0.00481	N	0.000124	T	0.06645	0.0170	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	10	0.30854	T	0.27	.	3.2352	0.06762	0.2162:0.433:0.199:0.1518	.	52	P20142	PEPC_HUMAN	S	52;52;52;52;52;56	ENSP00000362116:W52S;ENSP00000349094:W52S;ENSP00000405094:W52S;ENSP00000399429:W56S	ENSP00000349094:W52S	W	-	2	0	PGC	41820429	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.320000	0.02700	-1.002000	0.03429	-0.911000	0.02809	TGG		0.542	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			8	58	0	0	0	0.00308	0	8	58				
PTCRA	171558	broad.mit.edu	37	6	42890948	42890948	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:42890948C>A	ENST00000304672.1	+	2	323	c.242C>A	c.(241-243)gCa>gAa	p.A81E	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A56E	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	81					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCTTCCCCAGCAACGGATGGC	0.622																																							uc003osx.2		NA																	0				ovary(2)	2						c.(241-243)GCA>GAA		pre T-cell antigen receptor alpha precursor							170.0	134.0	147.0					6																	42890948		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890948C>A	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.242C>A	6.37:g.42890948C>A	ENSP00000304447:p.Ala81Glu					PTCRA_uc011duz.1_Missense_Mutation_p.Q92K|PTCRA_uc010jxx.1_Missense_Mutation_p.Q42K|PTCRA_uc010jxy.2_Missense_Mutation_p.A56E|PTCRA_uc010jxz.2_Intron	p.A81E	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	323	+	Colorectal(47;0.196)		81			Extracellular (Potential).		Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.242C>A	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172895	0.38413	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.56941	0.43;0.43	5.84	2.98	0.34508	Immunoglobulin-like fold (1);	0.303270	0.23793	N	0.044513	T	0.19644	0.0472	N	0.24115	0.695	0.26833	N	0.968543	P;P	0.46859	0.873;0.885	B;B	0.43082	0.403;0.407	T	0.06058	-1.0848	10	0.36615	T	0.2	-8.1207	8.6451	0.34000	0.3266:0.5294:0.1439:0.0	.	56;81	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	E	81;56	ENSP00000304447:A81E;ENSP00000409550:A56E	ENSP00000304447:A81E	A	+	2	0	PTCRA	42998926	0.112000	0.22096	0.005000	0.12908	0.964000	0.63967	0.431000	0.21444	0.312000	0.23038	0.650000	0.86243	GCA		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		76	139	1	0	1.24833e-42	0.00361	1.86205e-42	76	139				
SLC22A7	10864	broad.mit.edu	37	6	43266202	43266202	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:43266202C>T	ENST00000372585.5	+	1	201	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	SLC22A7_ENST00000372574.3_Missense_Mutation_p.L36F|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L36F|SLC22A7_ENST00000487175.1_Intron	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	36					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACTGCACTTCCTCCTGCCCAT	0.652																																							uc003out.2		NA																	0					0						c.(106-108)CTC>TTC		solute carrier family 22 member 7 isoform b							54.0	58.0	56.0					6																	43266202		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266202C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.106C>T	6.37:g.43266202C>T	ENSP00000361666:p.Leu36Phe					SLC22A7_uc010jyl.1_Missense_Mutation_p.L36F|SLC22A7_uc003ous.2_Missense_Mutation_p.L36F	p.L36F	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	205	+			36			Helical; (Potential).		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.106C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392045	0.42410	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.58810	1.83	0.43868	D	0.996479	D;D;D	0.63880	0.988;0.993;0.993	P;P;P	0.62491	0.803;0.903;0.903	T	0.59579	-0.7428	10	0.36615	T	0.2	.	12.2178	0.54416	0.0:0.917:0.0:0.083	.	36;36;36	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	F	36	ENSP00000411818:L36F;ENSP00000361670:L36F;ENSP00000361666:L36F;ENSP00000361655:L36F	ENSP00000361655:L36F	L	+	1	0	SLC22A7	43374180	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.309000	0.43699	1.379000	0.46325	0.563000	0.77884	CTC		0.652	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			41	96	0	0	0	0.009718	0	41	96				
OPN5	221391	broad.mit.edu	37	6	47763229	47763229	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:47763229C>A	ENST00000371211.2	+	4	714	c.686C>A	c.(685-687)tCt>tAt	p.S229Y	OPN5_ENST00000393699.2_Missense_Mutation_p.S229Y|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Missense_Mutation_p.S229Y	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	229					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTTAAGTCCTCTTCCAAAGAA	0.448																																					Melanoma(28;740 973 10870 42660 45347)	Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2		NA																	0				ovary(1)	1						c.(685-687)TCT>TAT		opsin 5 isoform 1							116.0	102.0	107.0					6																	47763229		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763229C>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.686C>A	6.37:g.47763229C>A	ENSP00000360255:p.Ser229Tyr					OPN5_uc003ozd.2_Missense_Mutation_p.S64Y	p.S229Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			4	691	+			229			Cytoplasmic (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.686C>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830030	0.91036	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.39229	1.09;1.09;1.09	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.51914	1.62	0.58432	D	0.999997	D	0.67145	0.996	D	0.66602	0.945	T	0.53272	-0.8462	10	0.72032	D	0.01	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	229	Q6U736	OPN5_HUMAN	Y	229	ENSP00000426991:S229Y;ENSP00000360255:S229Y;ENSP00000377302:S229Y	ENSP00000360255:S229Y	S	+	2	0	OPN5	47871188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	TCT		0.448	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		48	95	1	0	3.05275e-18	0.013114	3.81593e-18	48	95				
CRISP2	7180	broad.mit.edu	37	6	49676878	49676878	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:49676878G>C	ENST00000339139.4	-	4	268	c.32C>G	c.(31-33)aCt>aGt	p.T11S		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	11					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGCAGCACAGTAACCAGAAA	0.388																																							uc003ozq.2		NA																	0				skin(1)	1						c.(31-33)ACT>AGT		cysteine-rich secretory protein 2 precursor							100.0	96.0	97.0					6																	49676878		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49676878G>C	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.32C>G	6.37:g.49676878G>C	ENSP00000339155:p.Thr11Ser					CRISP2_uc003ozl.2_Missense_Mutation_p.T11S|CRISP2_uc003ozn.2_Missense_Mutation_p.T11S|CRISP2_uc003ozr.2_Missense_Mutation_p.T11S|CRISP2_uc003ozo.2_Missense_Mutation_p.T11S|CRISP2_uc003ozm.2_Missense_Mutation_p.T11S|CRISP2_uc003ozp.2_Missense_Mutation_p.T11S	p.T11S	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	288	-	Lung NSC(77;0.0161)		11					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.32C>G	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396729	0.04899	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.09350	2.99	4.91	4.04	0.47022	.	0.682673	0.14939	N	0.289627	T	0.03220	0.0094	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40813	-0.9543	10	0.21014	T	0.42	.	12.3984	0.55399	0.0882:0.0:0.9118:0.0	.	11;11	Q7Z7B2;P16562	.;CRIS2_HUMAN	S	11	ENSP00000339155:T11S	ENSP00000211238:T11S	T	-	2	0	CRISP2	49784837	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.432000	0.21461	0.786000	0.33708	-0.813000	0.03139	ACT		0.388	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		41	89	0	0	0	0.006999	0	41	89				
CRISP3	10321	broad.mit.edu	37	6	49700930	49700930	+	Missense_Mutation	SNP	A	A	T	rs180675897	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:49700930A>T	ENST00000393666.1	-	5	505	c.499T>A	c.(499-501)Tat>Aat	p.Y167N	CRISP3_ENST00000433368.2_Missense_Mutation_p.Y190N|CRISP3_ENST00000263045.4_Missense_Mutation_p.Y180N|CRISP3_ENST00000371159.4_Missense_Mutation_p.Y198N|CRISP3_ENST00000423399.2_Missense_Mutation_p.Y77N			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	167	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.294																																							uc003ozs.2		NA																	0				skin(2)	2						c.(499-501)TAT>AAT		cysteine-rich secretory protein 3 precursor							119.0	123.0	121.0					6																	49700930		2203	4298	6501	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49700930A>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.499T>A	6.37:g.49700930A>T	ENSP00000377274:p.Tyr167Asn						p.Y167N	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	514	-	Lung NSC(77;0.0161)		167					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.499T>A		.	.	.	.	.	.	.	.	.	.	A	17.65	3.442368	0.63067	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	5.09	-3.18	0.05186	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.200406	0.33199	U	0.005172	T	0.19406	0.0466	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01053	-1.1467	10	0.72032	D	0.01	.	5.1551	0.15031	0.3717:0.0:0.0864:0.542	.	167	P54108	CRIS3_HUMAN	N	180;190;167;77;198;190	ENSP00000263045:Y180N;ENSP00000389026:Y190N;ENSP00000377274:Y167N;ENSP00000410469:Y77N;ENSP00000360201:Y198N;ENSP00000346636:Y190N	ENSP00000263045:Y180N	Y	-	1	0	CRISP3	49808889	0.003000	0.15002	0.000000	0.03702	0.209000	0.24338	1.119000	0.31258	-0.286000	0.09076	0.459000	0.35465	TAT		0.294	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		70	112	0	0	0	0.00361	0	70	112				
TFAP2D	83741	broad.mit.edu	37	6	50683176	50683176	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:50683176G>A	ENST00000008391.3	+	2	615	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.E129D(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GCCTGGACGAGCAGAGGCGGG	0.602																																							uc003paf.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(6)|breast(1)	7						c.(385-387)GAG>GAA		transcription factor AP-2 beta-like 1							67.0	69.0	68.0					6																	50683176		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683176G>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.387G>A	6.37:g.50683176G>A						TFAP2D_uc011dwt.1_RNA	p.E129E	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			2	899	+	Lung NSC(77;0.0334)		129						Silent	SNP	ENST00000008391.3	37	c.387G>A	CCDS4933.1																																																																																				0.602	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		38	194	0	0	0	0.00874	0	38	194				
PKHD1	5314	broad.mit.edu	37	6	51612726	51612726	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:51612726C>G	ENST00000371117.3	-	58	9963	c.9688G>C	c.(9688-9690)Gat>Cat	p.D3230H	PKHD1_ENST00000340994.4_Missense_Mutation_p.D3230H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3230					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGAGCTCTATCTGTTGATGTC	0.488																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9688-9690)GAT>CAT		fibrocystin isoform 1							119.0	114.0	116.0					6																	51612726		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612726C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9688G>C	6.37:g.51612726C>G	ENSP00000360158:p.Asp3230His					PKHD1_uc010jzn.1_Missense_Mutation_p.D1213H|PKHD1_uc003pai.2_Missense_Mutation_p.D3230H	p.D3230H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9964	-	Lung NSC(77;0.0605)		3230			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9688G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974843	0.34848	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.95;-2.16	5.75	2.59	0.31030	.	0.205916	0.42682	D	0.000670	T	0.73666	0.3616	L	0.38692	1.165	0.32370	N	0.555976	D;D;D	0.61697	0.99;0.979;0.99	P;P;P	0.53593	0.688;0.73;0.688	T	0.67181	-0.5735	10	0.14656	T	0.56	.	6.6127	0.22761	0.1292:0.6709:0.1249:0.0751	.	3230;3230;3230	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	H	3230	ENSP00000360158:D3230H;ENSP00000341097:D3230H	ENSP00000341097:D3230H	D	-	1	0	PKHD1	51720685	0.932000	0.31603	0.433000	0.26760	0.677000	0.39632	1.912000	0.39946	0.627000	0.30340	0.655000	0.94253	GAT		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	182	0	0	0	0.004482	0	7	182				
HCRTR2	3062	broad.mit.edu	37	6	55142300	55142300	+	Missense_Mutation	SNP	G	G	C	rs200307310		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:55142300G>C	ENST00000370862.3	+	5	1221	c.885G>C	c.(883-885)caG>caC	p.Q295H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	295					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.Q295H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATAAAGCAGATCCGAGCCA	0.498																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(883-885)CAG>CAC		orexin receptor 2							91.0	93.0	92.0					6																	55142300		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142300G>C	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.885G>C	6.37:g.55142300G>C	ENSP00000359899:p.Gln295His					HCRTR2_uc010jzv.2_RNA	p.Q295H	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1200	+	Lung NSC(77;0.107)|Renal(3;0.122)		295			Cytoplasmic (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.885G>C	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185464	0.78677	.	.	ENSG00000137252	ENST00000370862	T	0.72615	-0.67	6.06	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74372	-0.3687	10	0.30078	T	0.28	.	15.7887	0.78332	0.066:0.0:0.934:0.0	.	295	O43614	OX2R_HUMAN	H	295	ENSP00000359899:Q295H	ENSP00000359899:Q295H	Q	+	3	2	HCRTR2	55250259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.880000	0.98712	0.650000	0.86243	CAG		0.498	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			21	36	0	0	0	0.010504	0	21	36				
PHF3	23469	broad.mit.edu	37	6	64421138	64421138	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:64421138A>G	ENST00000262043.3	+	15	4217	c.3877A>G	c.(3877-3879)Agt>Ggt	p.S1293G	PHF3_ENST00000393387.1_Missense_Mutation_p.S1293G			Q92576	PHF3_HUMAN	PHD finger protein 3	1293					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCATACTTCAGTAGCAGAAA	0.373																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(3877-3879)AGT>GGT		PHD finger protein 3							88.0	81.0	84.0					6																	64421138		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64421138A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3877A>G	6.37:g.64421138A>G	ENSP00000262043:p.Ser1293Gly					PHF3_uc003pen.2_Missense_Mutation_p.S1205G|PHF3_uc011dxs.1_Missense_Mutation_p.S562G	p.S1293G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		14	3903	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1293					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3877A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263019	0.80358	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.48522	0.81;2.07;2.07	5.86	5.86	0.93980	Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.46442	D	0.000282	T	0.64204	0.2577	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.69602	-0.5101	10	0.72032	D	0.01	-16.6683	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1293	Q92576	PHF3_HUMAN	G	562;1293;1293	ENSP00000425338:S562G;ENSP00000262043:S1293G;ENSP00000377048:S1293G	ENSP00000262043:S1293G	S	+	1	0	PHF3	64479097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.281000	0.95811	2.241000	0.73720	0.533000	0.62120	AGT		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			37	55	0	0	0	0.005524	0	37	55				
EYS	346007	broad.mit.edu	37	6	66094307	66094307	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:66094307C>A	ENST00000370621.3	-	8	1797	c.1271G>T	c.(1270-1272)tGg>tTg	p.W424L	EYS_ENST00000370618.3_Missense_Mutation_p.W424L|EYS_ENST00000503581.1_Missense_Mutation_p.W424L|EYS_ENST00000342421.5_Missense_Mutation_p.W424L|EYS_ENST00000393380.2_Missense_Mutation_p.W424L|EYS_ENST00000370616.2_Missense_Mutation_p.W424L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	424					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTGAAACACCATTCTTCATT	0.318																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(1270-1272)TGG>TTG		eyes shut homolog isoform 1							99.0	97.0	98.0					6																	66094307		2202	4293	6495	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66094307C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1271G>T	6.37:g.66094307C>A	ENSP00000359655:p.Trp424Leu					EYS_uc003peq.2_Missense_Mutation_p.W424L|EYS_uc003per.1_Missense_Mutation_p.W424L	p.W424L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			8	1809	-			424					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1271G>T		.	.	.	.	.	.	.	.	.	.	C	16.81	3.224715	0.58668	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	6.07	4.13	0.48395	.	.	.	.	.	T	0.08492	0.0211	N	0.05306	-0.075	0.28908	N	0.892885	B;B;B	0.32918	0.085;0.205;0.39	B;B;B	0.34452	0.074;0.183;0.089	T	0.21245	-1.0251	9	0.29301	T	0.29	.	12.1468	0.54028	0.5244:0.4756:0.0:0.0	.	424;424;424	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	424	ENSP00000424243:W424L;ENSP00000359655:W424L;ENSP00000359650:W424L;ENSP00000377042:W424L;ENSP00000341818:W424L;ENSP00000359652:W424L	ENSP00000341818:W424L	W	-	2	0	EYS	66151028	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.923000	0.48868	1.553000	0.49476	0.655000	0.94253	TGG		0.318	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		21	27	1	0	3.01185e-09	0.003954	3.35792e-09	21	27				
ELOVL4	6785	broad.mit.edu	37	6	80634699	80634699	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:80634699C>T	ENST00000369816.4	-	3	639	c.339G>A	c.(337-339)gtG>gtA	p.V113V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	113					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAGAATAATCCACACTCTGGC	0.308																																							uc003pja.3		NA																	0				ovary(1)|skin(1)	2						c.(337-339)GTG>GTA		elongation of very long chain fatty acids-like	Alpha-Linolenic Acid(DB00132)						79.0	82.0	81.0					6																	80634699		2201	4296	6497	SO:0001819	synonymous_variant	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80634699C>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.339G>A	6.37:g.80634699C>T						ELOVL4_uc011dyt.1_Intron	p.V113V	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	3	658	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	113					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	ENST00000369816.4	37	c.339G>A	CCDS4992.1																																																																																				0.308	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			34	30	0	0	0	0.006999	0	34	30				
BCKDHB	594	broad.mit.edu	37	6	80878689	80878689	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:80878689G>T	ENST00000320393.6	+	5	622	c.575G>T	c.(574-576)gGg>gTg	p.G192V	BCKDHB_ENST00000545529.1_Missense_Mutation_p.G192V|BCKDHB_ENST00000356489.5_Missense_Mutation_p.G192V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.G192V	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	192					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTTGGTCATGGGGCTCTCTAT	0.433																																							uc003pjd.2		NA																	0					0						c.(574-576)GGG>GTG		branched chain keto acid dehydrogenase E1 beta							145.0	147.0	146.0					6																	80878689		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878689G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.575G>T	6.37:g.80878689G>T	ENSP00000318351:p.Gly192Val					BCKDHB_uc003pje.2_Missense_Mutation_p.G192V	p.G192V	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	642	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	192					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.575G>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517071	0.85495	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.21	5.21	0.72293	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97334	0.9128	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98059	1.0392	10	0.87932	D	0	-16.2978	17.8034	0.88595	0.0:0.0:1.0:0.0	.	192	P21953	ODBB_HUMAN	V	192;192;192;192;122	ENSP00000358775:G192V;ENSP00000318351:G192V;ENSP00000348880:G192V;ENSP00000443564:G192V	ENSP00000318351:G192V	G	+	2	0	BCKDHB	80935408	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.365000	0.97139	2.444000	0.82710	0.579000	0.79373	GGG		0.433	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		66	75	1	0	4.67498e-28	0.00361	6.47102e-28	66	75				
CYB5R4	51167	broad.mit.edu	37	6	84618742	84618742	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:84618742C>G	ENST00000369681.5	+	4	485	c.345C>G	c.(343-345)gtC>gtG	p.V115V	CYB5R4_ENST00000369679.4_Silent_p.V81V	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	115	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATCGTTGGGTCAATTATGAAT	0.418																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.2		NA																	0				breast(2)	2						c.(343-345)GTC>GTG		cytochrome b5 reductase 4							171.0	144.0	153.0					6																	84618742		2203	4300	6503	SO:0001819	synonymous_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84618742C>G	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.345C>G	6.37:g.84618742C>G							p.V115V	NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	4	477	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	115			Cytochrome b5 heme-binding.		B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.345C>G	CCDS5000.2																																																																																				0.418	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		10	36	0	0	0	0.010729	0	10	36				
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90394655G>C	ENST00000369393.3	-	71	11884	c.11769C>G	c.(11767-11769)ttC>ttG	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403																																							uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(11767-11769)TTC>TTG		MDN1, midasin homolog							56.0	59.0	58.0					6																	90394655		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90394655G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11769C>G	6.37:g.90394655G>C	ENSP00000358400:p.Phe3923Leu						p.F3923L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	71	11885	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3923					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11769C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118380	0.56505	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.56941	0.43;0.43	5.89	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.84433	2.695	0.46028	D	0.998829	D	0.69078	0.997	D	0.75020	0.985	T	0.71846	-0.4469	10	0.72032	D	0.01	.	9.0164	0.36173	0.2127:0.0:0.7873:0.0	.	3923	Q9NU22	MDN1_HUMAN	L	3923	ENSP00000358400:F3923L;ENSP00000413970:F3923L	ENSP00000358400:F3923L	F	-	3	2	MDN1	90451376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	1.463000	0.47967	0.655000	0.94253	TTC		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	39	0	0	0	0.000602	0	5	39				
CASP8AP2	9994	broad.mit.edu	37	6	90577087	90577087	+	RNA	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90577087G>C	ENST00000551025.1	+	0	5515									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGTACAACAGAAGAGCTAGT	0.413																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(4078-4080)GAA>CAA		caspase 8 associated protein 2							66.0	68.0	67.0					6																	90577087		1855	4102	5957			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577087G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577087G>C						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1360Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1360Q	p.E1360Q	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4274	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1360						Missense_Mutation	SNP	ENST00000551025.1	37	c.4078G>C																																																																																					0.413	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		12	83	0	0	0	0.010729	0	12	83				
CASP8AP2	9994	broad.mit.edu	37	6	90577210	90577210	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90577210G>A	ENST00000551025.1	+	0	5638									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGTTCATCCTGATGTGTTGGA	0.378																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(4201-4203)GAT>AAT		caspase 8 associated protein 2							86.0	88.0	87.0					6																	90577210		1898	4121	6019			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577210G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577210G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.D1401N|CASP8AP2_uc011dzz.1_Missense_Mutation_p.D1401N	p.D1401N	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4397	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1401						Missense_Mutation	SNP	ENST00000551025.1	37	c.4201G>A																																																																																					0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		18	116	0	0	0	0.010504	0	18	116				
BACH2	60468	broad.mit.edu	37	6	90642233	90642233	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90642233C>G	ENST00000257749.4	-	9	3127	c.2420G>C	c.(2419-2421)aGa>aCa	p.R807T	BACH2_ENST00000537989.1_Missense_Mutation_p.R807T|BACH2_ENST00000343122.3_Missense_Mutation_p.R807T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	807						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGGTCCTCTCTCTGAGAA	0.567																																							uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2419-2421)AGA>ACA		BTB and CNC homology 1, basic leucine zipper							168.0	181.0	176.0					6																	90642233		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642233C>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2420G>C	6.37:g.90642233C>G	ENSP00000257749:p.Arg807Thr					BACH2_uc003pnw.2_Missense_Mutation_p.R807T	p.R807T	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	3229	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	807					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2420G>C	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	7.328	0.618245	0.14129	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38077	1.16;1.16;1.16	5.51	4.62	0.57501	.	0.220870	0.47093	D	0.000246	T	0.11793	0.0287	L	0.43152	1.355	0.25741	N	0.985165	B	0.30406	0.278	B	0.24974	0.057	T	0.11131	-1.0600	10	0.20519	T	0.43	-9.3829	10.4668	0.44614	0.0:0.792:0.1356:0.0724	.	807	Q9BYV9	BACH2_HUMAN	T	807	ENSP00000257749:R807T;ENSP00000437473:R807T;ENSP00000345642:R807T	ENSP00000257749:R807T	R	-	2	0	BACH2	90698954	1.000000	0.71417	0.947000	0.38551	0.968000	0.65278	2.150000	0.42254	1.277000	0.44412	0.561000	0.74099	AGA		0.567	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		12	308	0	0	0	0.001368	0	12	308				
AIM1	202	broad.mit.edu	37	6	106969284	106969284	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:106969284G>T	ENST00000369066.3	+	2	3464	c.2977G>T	c.(2977-2979)Gac>Tac	p.D993Y		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGCCGGTATGACCCAAGCAT	0.358																																							uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(2977-2979)GAC>TAC		absent in melanoma 1							74.0	77.0	76.0					6																	106969284		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106969284G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2977G>T	6.37:g.106969284G>T	ENSP00000358062:p.Asp993Tyr						p.D993Y	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3464	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	993					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2977G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604934	0.66445	.	.	ENSG00000112297	ENST00000369066	T	0.73047	-0.71	5.6	5.6	0.85130	.	1.262340	0.04960	N	0.461861	T	0.72581	0.3478	M	0.65975	2.015	0.80722	D	1	D	0.56521	0.976	P	0.47744	0.556	T	0.69157	-0.5219	10	0.72032	D	0.01	.	16.8805	0.86061	0.0:0.0:1.0:0.0	.	993	Q9Y4K1	AIM1_HUMAN	Y	993	ENSP00000358062:D993Y	ENSP00000358062:D993Y	D	+	1	0	AIM1	107075977	1.000000	0.71417	0.996000	0.52242	0.474000	0.32979	5.645000	0.67909	2.788000	0.95919	0.655000	0.94253	GAC		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			56	36	1	0	3.53049e-34	0.00361	5.0583e-34	56	36				
NR2E1	7101	broad.mit.edu	37	6	108496054	108496054	+	Silent	SNP	G	G	T	rs202048960	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:108496054G>T	ENST00000368986.4	+	3	894	c.186G>T	c.(184-186)gtG>gtT	p.V62V	NR2E1_ENST00000368983.3_Silent_p.V99V	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	62					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCTGTCCGGTGGACAAGACGC	0.587													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15036	0.0		0.0	False		,,,				2504	0.0						uc003psg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(184-186)GTG>GTT		nuclear receptor subfamily 2, group E, member 1							101.0	89.0	93.0					6																	108496054		2203	4300	6503	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108496054G>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.186G>T	6.37:g.108496054G>T							p.V62V	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	3	941	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	62			Nuclear receptor.|NR C4-type.		Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.186G>T	CCDS5063.1																																																																																				0.587	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			31	34	1	0	3.80469e-20	0.009535	4.88676e-20	31	34				
NT5DC1	221294	broad.mit.edu	37	6	116432034	116432034	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:116432034G>T	ENST00000319550.4	+	4	361	c.279G>T	c.(277-279)atG>atT	p.M93I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	93							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GCACCAAGATGATGACTCCAG	0.493																																					Colon(128;1440 1664 38087 41475 42869)	Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2		NA																	0					0						c.(277-279)ATG>ATT		5'-nucleotidase, cytosolic II-like 1 protein							99.0	90.0	93.0					6																	116432034		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116432034G>T	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.279G>T	6.37:g.116432034G>T	ENSP00000326858:p.Met93Ile					NT5DC1_uc003pwk.2_Missense_Mutation_p.M93I|NT5DC1_uc003pwl.2_Missense_Mutation_p.M43I	p.M93I	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	4	374	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	93					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.279G>T	CCDS5104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.86|10.86	1.470535|1.470535	0.26423|0.26423	.|.	.|.	ENSG00000178425|ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791|ENST00000417846	T;T|.	0.21361|.	2.01;2.01|.	4.43|4.43	4.43|4.43	0.53597|0.53597	HAD-like domain (1);|.	0.551059|.	0.22187|.	N|.	0.063422|.	T|.	0.26919|.	0.0659|.	L|L	0.55990|0.55990	1.75|1.75	0.28519|0.28519	N|N	0.91319|0.91319	P;B;P|.	0.40250|.	0.622;0.016;0.709|.	B;B;B|.	0.41510|.	0.288;0.063;0.359|.	T|.	0.18147|.	-1.0346|.	10|.	0.23891|.	T|.	0.37|.	-14.9966|-14.9966	6.3973|6.3973	0.21618|0.21618	0.1005:0.1881:0.7114:0.0|0.1005:0.1881:0.7114:0.0	.|.	43;93;93|.	B3KR35;A8K2Z3;Q5TFE4|.	.;.;NT5D1_HUMAN|.	I|L	93|7	ENSP00000326858:M93I;ENSP00000393578:M93I|.	ENSP00000326858:M93I|.	M|X	+|+	3|2	0|2	NT5DC1|NT5DC1	116538727|116538727	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.595000|0.595000	0.36748|0.36748	1.377000|1.377000	0.34317|0.34317	2.027000|2.027000	0.59764|0.59764	0.561000|0.561000	0.74099|0.74099	ATG|TGA		0.493	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		6	79	1	0	1.26484e-09	0.00308	1.41825e-09	6	79				
LAMA2	3908	broad.mit.edu	37	6	129498924	129498924	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:129498924C>G	ENST00000421865.2	+	10	1429	c.1380C>G	c.(1378-1380)taC>taG	p.Y460*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	460	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGGGCTACACTGGCTACC	0.488																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1378-1380)TAC>TAG		laminin alpha 2 subunit isoform a precursor							110.0	100.0	104.0					6																	129498924		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129498924C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1380C>G	6.37:g.129498924C>G	ENSP00000400365:p.Tyr460*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.Y460*	p.Y460*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	10	1485	+			460			Laminin EGF-like 3.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.1380C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.208323	0.97376	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.22	3.4	0.38934	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2653	0.37636	0.0:0.7592:0.0:0.2408	.	.	.	.	X	460	.	ENSP00000346769:Y460X	Y	+	3	2	LAMA2	129540617	0.297000	0.24408	0.842000	0.33263	0.809000	0.45718	0.524000	0.22940	1.313000	0.45069	0.585000	0.79938	TAC		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	99	0	0	0	0.008291	0	10	99				
LAMA2	3908	broad.mit.edu	37	6	129498962	129498962	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:129498962G>A	ENST00000421865.2	+	10	1467	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	473	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGCAGTGGGTTAGGGAGC	0.483																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1417-1419)GGG>GAG		laminin alpha 2 subunit isoform a precursor							112.0	103.0	106.0					6																	129498962		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129498962G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1418G>A	6.37:g.129498962G>A	ENSP00000400365:p.Gly473Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.G473E	p.G473E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	10	1523	+			473			Laminin EGF-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1418G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500068	0.26861	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61040	0.14	5.22	2.2	0.27929	EGF-like, laminin (3);	0.204155	0.42053	D	0.000765	T	0.14917	0.0360	N	0.05031	-0.125	0.27055	N	0.963685	P;P	0.48407	0.91;0.784	P;P	0.48524	0.58;0.575	T	0.36065	-0.9763	10	0.05351	T	0.99	.	7.8136	0.29245	0.0:0.2529:0.4212:0.3258	.	473;473	A6NF00;P24043	.;LAMA2_HUMAN	E	473	ENSP00000400365:G473E	ENSP00000346769:G473E	G	+	2	0	LAMA2	129540655	0.985000	0.35326	0.644000	0.29465	0.771000	0.43674	2.276000	0.43408	0.663000	0.31027	-0.283000	0.09986	GGG		0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			43	58	0	0	0	0.010771	0	43	58				
OR2A4	79541	broad.mit.edu	37	6	132022492	132022492	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:132022492G>C	ENST00000315453.2	-	1	143	c.50C>G	c.(49-51)cCc>cGc	p.P17R	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	17					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGGGCCAACGGGAAATCCCAG	0.493																																							uc011ecd.1		NA																	0				ovary(1)|skin(1)	2						c.(49-51)CCC>CGC		olfactory receptor, family 2, subfamily A,							48.0	52.0	51.0					6																	132022492		2203	4294	6497	SO:0001583	missense	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132022492G>C	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.50C>G	6.37:g.132022492G>C	ENSP00000319546:p.Pro17Arg					ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	p.P17R	NM_030908	NP_112170	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	50	-	Breast(56;0.0753)		17			Extracellular (Potential).		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	c.50C>G	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.615794	0.28801	.	.	ENSG00000180658	ENST00000315453	T	0.00433	7.43	1.38	1.38	0.22167	.	0.220649	0.23051	U	0.052488	T	0.00210	0.0006	L	0.49571	1.57	0.09310	N	1	D	0.53619	0.961	P	0.49752	0.621	T	0.49995	-0.8879	10	0.72032	D	0.01	.	9.0624	0.36442	0.0:0.0:1.0:0.0	.	17	O95047	OR2A4_HUMAN	R	17	ENSP00000319546:P17R	ENSP00000319546:P17R	P	-	2	0	OR2A4	132064185	0.000000	0.05858	0.840000	0.33206	0.000000	0.00434	0.571000	0.23669	0.801000	0.34066	0.000000	0.15137	CCC		0.493	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1	NM_030908		18	85	0	0	0	0.00278	0	18	85				
TNFAIP3	7128	broad.mit.edu	37	6	138199845	138199845	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:138199845G>A	ENST00000237289.4	+	7	1329	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	421	Interaction with RIPK1.|Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCCCAAAGCTGAACTCCAAGC	0.587			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NA		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		25	Whole gene deletion(25)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(1261-1263)CTG>CTA		tumor necrosis factor, alpha-induced protein 3							40.0	46.0	44.0					6																	138199845		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138199845G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1263G>A	6.37:g.138199845G>A						TNFAIP3_uc003qhs.2_Silent_p.L421L	p.L421L	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1329	+	Breast(32;0.135)|Colorectal(23;0.24)		421			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1263G>A	CCDS5187.1																																																																																				0.587	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			8	96	0	0	0	0.004482	0	8	96				
UTRN	7402	broad.mit.edu	37	6	144758806	144758806	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:144758806G>C	ENST00000367545.3	+	10	1165	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	389	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGAAGAATTTGAGATTCAGGA	0.507																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1165-1167)GAG>CAG		utrophin							112.0	99.0	103.0					6																	144758806		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144758806G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1165G>C	6.37:g.144758806G>C	ENSP00000356515:p.Glu389Gln					UTRN_uc010khq.1_Missense_Mutation_p.E389Q	p.E389Q	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	10	1257	+		Ovarian(120;0.218)	389			Interaction with SYNM.|Spectrin 2.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1165G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004284	0.93287	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.52295	0.67	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000119	T	0.70325	0.3211	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75345	-0.3350	10	0.66056	D	0.02	.	19.2915	0.94102	0.0:0.0:1.0:0.0	.	389	P46939	UTRO_HUMAN	Q	389	ENSP00000356515:E389Q	ENSP00000356499:E389Q	E	+	1	0	UTRN	144800499	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.562000	0.86427	0.655000	0.94253	GAG		0.507	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	105	0	0	0	0.00308	0	8	105				
UTRN	7402	broad.mit.edu	37	6	145069583	145069583	+	Missense_Mutation	SNP	G	G	A	rs141157215		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:145069583G>A	ENST00000367545.3	+	54	8141	c.8141G>A	c.(8140-8142)cGg>cAg	p.R2714Q	UTRN_ENST00000367526.4_Missense_Mutation_p.R269Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2714					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGTCCGTGCGGAATGGCTGG	0.483																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(8140-8142)CGG>CAG		utrophin		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	82.0	82.0		8141	5.6	0.6	6	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UTRN	NM_007124.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	2714/3434	145069583	2,13004	2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145069583G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8141G>A	6.37:g.145069583G>A	ENSP00000356515:p.Arg2714Gln						p.R2714Q	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	54	8233	+		Ovarian(120;0.218)	2714			Spectrin 20.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8141G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413496	0.42817	2.27E-4	1.16E-4	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.49432	0.78;0.78	5.62	5.62	0.85841	.	0.000000	0.46145	D	0.000301	T	0.31670	0.0804	L	0.40543	1.245	0.32479	N	0.541689	B	0.33238	0.403	B	0.35510	0.204	T	0.29971	-0.9994	10	0.42905	T	0.14	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	2714	P46939	UTRO_HUMAN	Q	2714;269	ENSP00000356515:R2714Q;ENSP00000356496:R269Q	ENSP00000356496:R269Q	R	+	2	0	UTRN	145111276	1.000000	0.71417	0.584000	0.28653	0.088000	0.18126	5.996000	0.70639	2.637000	0.89404	0.563000	0.77884	CGG		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	45	0	0	0	0.000602	0	5	45				
ESR1	2099	broad.mit.edu	37	6	152332868	152332868	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:152332868G>A	ENST00000206249.3	+	5	1536	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	ESR1_ENST00000456483.2_Missense_Mutation_p.V280I|ESR1_ENST00000338799.5_Missense_Mutation_p.V392I|ESR1_ENST00000427531.2_Missense_Mutation_p.V219I|ESR1_ENST00000440973.1_Missense_Mutation_p.V392I|ESR1_ENST00000443427.1_Missense_Mutation_p.V392I|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	392	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GATTGGTCTCGTCTGGCGCTC	0.498																																							uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1174-1176)GTC>ATC		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						146.0	130.0	135.0					6																	152332868		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332868G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1174G>A	6.37:g.152332868G>A	ENSP00000206249:p.Val392Ile					ESR1_uc010kin.2_Missense_Mutation_p.V392I|ESR1_uc010kio.2_Missense_Mutation_p.V394I|ESR1_uc010kip.2_Missense_Mutation_p.V391I|ESR1_uc003qon.3_Missense_Mutation_p.V392I|ESR1_uc003qoo.3_Missense_Mutation_p.V392I|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.V61I|ESR1_uc011eex.1_Missense_Mutation_p.V173I|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Missense_Mutation_p.V129I	p.V392I	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1544	+		Ovarian(120;0.0448)	392			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1174G>A	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	8.324	0.824930	0.16678	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.42	2.7	0.31948	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.191956	0.45606	N	0.000356	T	0.71525	0.3350	N	0.01668	-0.77	0.40794	D	0.983287	B;B;B;B;B;B	0.10296	0.003;0.001;0.0;0.002;0.0;0.0	B;B;B;B;B;B	0.17722	0.01;0.003;0.0;0.019;0.011;0.019	T	0.65656	-0.6115	10	0.02654	T	1	.	8.2193	0.31532	0.3003:0.0:0.6997:0.0	.	296;173;87;391;392;392	B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	I	392;392;280;173;392;392;320;219;65	ENSP00000405330:V392I;ENSP00000342630:V392I;ENSP00000415934:V280I;ENSP00000387500:V392I;ENSP00000206249:V392I;ENSP00000445454:V219I;ENSP00000401995:V65I	ENSP00000206249:V392I	V	+	1	0	ESR1	152374561	0.969000	0.33509	0.389000	0.26208	0.930000	0.56654	1.931000	0.40134	0.282000	0.22254	-0.218000	0.12543	GTC		0.498	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			7	131	0	0	0	0.001984	0	7	131				
IGF2R	3482	broad.mit.edu	37	6	160500618	160500618	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:160500618C>T	ENST00000356956.1	+	38	5633	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1829					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCAGGTGACTCGCGACTCGCG	0.582																																							uc003qta.2		NA																	0				ovary(3)	3						c.(5485-5487)CGC>TGC		insulin-like growth factor 2 receptor precursor							66.0	54.0	58.0					6																	160500618		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160500618C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5485C>T	6.37:g.160500618C>T	ENSP00000349437:p.Arg1829Cys						p.R1829C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	38	5633	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1829			13.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5485C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851830	0.51270	.	.	ENSG00000197081	ENST00000356956	T	0.02158	4.42	6.0	4.23	0.50019	Mannose-6-phosphate receptor, binding (1);	1.020820	0.07773	N	0.952072	T	0.03305	0.0096	M	0.69823	2.125	0.09310	N	0.999998	D	0.71674	0.998	P	0.55303	0.773	T	0.45234	-0.9275	10	0.56958	D	0.05	-5.9733	8.0957	0.30826	0.0:0.7412:0.0:0.2588	.	1829	P11717	MPRI_HUMAN	C	1829	ENSP00000349437:R1829C	ENSP00000349437:R1829C	R	+	1	0	IGF2R	160420608	0.002000	0.14202	0.001000	0.08648	0.534000	0.34807	1.465000	0.35299	1.550000	0.49438	0.655000	0.94253	CGC		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		3	27	0	0	0	0.009096	0	3	27				
IQCE	23288	broad.mit.edu	37	7	2608628	2608628	+	Missense_Mutation	SNP	C	C	T	rs199648730		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:2608628C>T	ENST00000402050.2	+	3	309	c.125C>T	c.(124-126)tCg>tTg	p.S42L	IQCE_ENST00000325979.7_Intron|IQCE_ENST00000404984.1_Intron|IQCE_ENST00000438376.2_Missense_Mutation_p.S26L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	42						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCCACATCGCCAAGTAAG	0.488																																							uc003smo.3		NA																	0					0						c.(124-126)TCG>TTG		IQ motif containing E isoform 1		C	LEU/SER,LEU/SER	0,4076		0,0,2038	90.0	88.0	89.0		77,125	4.5	1.0	7		89	2,8392		0,2,4195	yes	missense,missense	IQCE	NM_001100390.1,NM_152558.3	145,145	0,2,6233	TT,TC,CC		0.0238,0.0,0.016	probably-damaging,probably-damaging	26/680,42/696	2608628	2,12468	2038	4197	6235	SO:0001583	missense	23288							g.chr7:2608628C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.125C>T	7.37:g.2608628C>T	ENSP00000385597:p.Ser42Leu					IQCE_uc010ksm.1_Missense_Mutation_p.S42L|IQCE_uc003sml.1_Missense_Mutation_p.S42L|IQCE_uc011jvy.1_Missense_Mutation_p.S26L|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Missense_Mutation_p.S26L|IQCE_uc003smn.3_Intron	p.S42L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	3	309	+		Ovarian(82;0.0112)	42					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.125C>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460363	0.84317	0.0	2.38E-4	ENSG00000106012	ENST00000402050;ENST00000415271;ENST00000438376	T;T;T	0.60424	1.78;0.19;3.19	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000009	T	0.68293	0.2985	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.992	P;P;P;P	0.56563	0.801;0.723;0.801;0.727	T	0.72782	-0.4189	10	0.72032	D	0.01	-9.883	12.5219	0.56065	0.0:1.0:0.0:0.0	.	26;42;42;26	B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;IQCE_HUMAN;.;.	L	42;42;26	ENSP00000385597:S42L;ENSP00000404643:S42L;ENSP00000396178:S26L	ENSP00000385597:S42L	S	+	2	0	IQCE	2575154	0.997000	0.39634	0.996000	0.52242	0.974000	0.67602	3.624000	0.54231	2.338000	0.79540	0.655000	0.94253	TCG		0.488	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		47	44	0	0	0	0.00361	0	47	44				
RNF216	54476	broad.mit.edu	37	7	5662711	5662711	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:5662711T>A	ENST00000425013.2	-	17	2605	c.2381A>T	c.(2380-2382)cAg>cTg	p.Q794L	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.Q851L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	794	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CATCTGTGGCTGTGGCAGGTT	0.632																																							uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(2380-2382)CAG>CTG		ring finger protein 216 isoform b							59.0	64.0	62.0					7																	5662711		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662711T>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2381A>T	7.37:g.5662711T>A	ENSP00000404602:p.Gln794Leu					RNF216_uc010ksz.1_Missense_Mutation_p.Q416L|RNF216_uc010kta.1_Missense_Mutation_p.Q416L|RNF216_uc011jwj.1_Missense_Mutation_p.Q416L|RNF216_uc003sox.1_Missense_Mutation_p.Q851L	p.Q794L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2571	-		Ovarian(82;0.07)	794			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2381A>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789093	0.31685	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.49139	0.79;0.8	5.14	2.75	0.32379	.	0.278591	0.35615	N	0.003085	T	0.40473	0.1118	L	0.46157	1.445	0.40025	D	0.975455	B;B	0.26258	0.145;0.145	B;B	0.26864	0.074;0.05	T	0.28681	-1.0036	10	0.51188	T	0.08	-1.1776	11.3418	0.49537	0.0:0.0:0.3541:0.6459	.	794;851	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	L	794;851;606	ENSP00000404602:Q794L;ENSP00000374552:Q851L	ENSP00000374552:Q851L	Q	-	2	0	RNF216	5629237	0.951000	0.32395	0.917000	0.36280	0.297000	0.27493	1.470000	0.35354	0.366000	0.24427	0.459000	0.35465	CAG		0.632	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		109	142	0	0	0	0.00361	0	109	142				
COL28A1	340267	broad.mit.edu	37	7	7412854	7412854	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:7412854C>A	ENST00000399429.3	-	32	2823	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	895	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACTTTTTTTACACCTGGCCTT	0.488																																							uc003src.1		NA																	0				skin(3)	3						c.(2683-2685)GTA>TTA		collagen, type XXVIII precursor							95.0	88.0	90.0					7																	7412854		1975	4163	6138	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412854C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2683G>T	7.37:g.7412854C>A	ENSP00000382356:p.Val895Leu					COL28A1_uc011jxe.1_Missense_Mutation_p.V578L	p.V895L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2800	-		Ovarian(82;0.0789)	895			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2683G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205932	0.39003	.	.	ENSG00000215018	ENST00000399429	T	0.79940	-1.32	4.33	1.48	0.22813	von Willebrand factor, type A (3);	0.000000	0.56097	U	0.000022	D	0.84795	0.5551	M	0.83953	2.67	0.46011	D	0.998815	B	0.34147	0.438	P	0.48770	0.589	T	0.78314	-0.2252	10	0.25106	T	0.35	-5.7966	9.601	0.39603	0.0:0.7687:0.0:0.2313	.	895	Q2UY09	COSA1_HUMAN	L	895	ENSP00000382356:V895L	ENSP00000382356:V895L	V	-	1	0	COL28A1	7379379	0.976000	0.34144	0.013000	0.15412	0.497000	0.33675	2.521000	0.45563	0.191000	0.20236	0.655000	0.94253	GTA		0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		47	92	1	0	5.34276e-22	0.00361	6.9812e-22	47	92				
AGMO	392636	broad.mit.edu	37	7	15584521	15584521	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:15584521G>T	ENST00000342526.3	-	3	454	c.285C>A	c.(283-285)acC>acA	p.T95T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	95					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAATATAACTGGTCAGTTCAA	0.338																																							uc003stb.1		NA																	0					0						c.(283-285)ACC>ACA		transmembrane protein 195							79.0	85.0	83.0					7																	15584521		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15584521G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.285C>A	7.37:g.15584521G>T							p.T95T	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			3	455	-			95					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.285C>A	CCDS34604.1																																																																																				0.338	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		81	147	1	0	2.20581e-54	0.00361	3.35666e-54	81	147				
DNAH11	8701	broad.mit.edu	37	7	21723509	21723509	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:21723509C>G	ENST00000409508.3	+	32	5599	c.5568C>G	c.(5566-5568)ttC>ttG	p.F1856L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F1863L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1863	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCAGTACTTCTATGAATACT	0.428									Kartagener syndrome																														uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5587-5589)TTC>TTG		dynein, axonemal, heavy chain 11							184.0	169.0	174.0					7																	21723509		1872	4097	5969	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723509C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5568C>G	7.37:g.21723509C>G	ENSP00000475939:p.Phe1856Leu						p.F1863L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			33	5620	+			1863			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5589C>G		.	.	.	.	.	.	.	.	.	.	C	12.13	1.845965	0.32606	.	.	ENSG00000105877	ENST00000328843	T	0.08984	3.03	5.93	4.95	0.65309	.	0.248587	0.41097	D	0.000944	T	0.09158	0.0226	.	.	.	0.30659	N	0.7546	B	0.28178	0.202	B	0.34452	0.183	T	0.02868	-1.1100	9	0.48119	T	0.1	.	10.9867	0.47526	0.0:0.861:0.0:0.139	.	1863	Q96DT5	DYH11_HUMAN	L	1863	ENSP00000330671:F1863L	ENSP00000330671:F1863L	F	+	3	2	DNAH11	21690034	0.046000	0.20272	1.000000	0.80357	0.996000	0.88848	-0.426000	0.07008	2.814000	0.96858	0.563000	0.77884	TTC		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		36	315	0	0	0	0.002836	0	36	315				
FKBP14	55033	broad.mit.edu	37	7	30058635	30058635	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:30058635C>T	ENST00000222803.5	-	3	629	c.454G>A	c.(454-456)Gac>Aac	p.D152N	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	152	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						AGTTTCCAGTCATCATTAAGA	0.363																																							uc003tal.1		NA																	0					0						c.(454-456)GAC>AAC		FK506 binding protein 14 precursor							118.0	114.0	116.0					7																	30058635		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30058635C>T	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.454G>A	7.37:g.30058635C>T	ENSP00000222803:p.Asp152Asn					FKBP14_uc010kvq.1_RNA	p.D152N	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN			3	598	-			152			EF-hand 1.|1 (Potential).			Missense_Mutation	SNP	ENST00000222803.5	37	c.454G>A	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136601	0.94517	.	.	ENSG00000106080	ENST00000222803	T	0.53640	0.61	5.74	5.74	0.90152	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	M	0.69463	2.115	0.80722	D	1	P	0.48998	0.918	P	0.50378	0.639	T	0.54118	-0.8341	10	0.31617	T	0.26	-14.6686	18.4676	0.90761	0.0:1.0:0.0:0.0	.	152	Q9NWM8	FKB14_HUMAN	N	152	ENSP00000222803:D152N	ENSP00000222803:D152N	D	-	1	0	FKBP14	30025160	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.694000	0.91930	0.591000	0.81541	GAC		0.363	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		16	133	0	0	0	0.003163	0	16	133				
EEPD1	80820	broad.mit.edu	37	7	36194470	36194470	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:36194470G>T	ENST00000242108.4	+	2	1255	c.537G>T	c.(535-537)agG>agT	p.R179S	EEPD1_ENST00000534978.1_Missense_Mutation_p.R179S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	179					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTAGTGAGGATGGATGGTA	0.612																																							uc003tfa.2		NA																	0					0						c.(535-537)AGG>AGT		endonuclease/exonuclease/phosphatase family							76.0	80.0	79.0					7																	36194470		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194470G>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.537G>T	7.37:g.36194470G>T	ENSP00000242108:p.Arg179Ser						p.R179S	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			2	1177	+			179					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.537G>T	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230792	0.39399	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.22743	1.94;1.94	5.0	0.8	0.18672	.	0.212887	0.42294	N	0.000721	T	0.13500	0.0327	L	0.37800	1.135	0.36723	D	0.881284	B	0.25850	0.136	B	0.27608	0.081	T	0.09400	-1.0676	10	0.56958	D	0.05	-34.8601	3.571	0.07917	0.1479:0.1317:0.5844:0.136	.	179	Q7L9B9	EEPD1_HUMAN	S	179	ENSP00000242108:R179S;ENSP00000442692:R179S	ENSP00000242108:R179S	R	+	3	2	EEPD1	36160995	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	1.086000	0.30853	0.258000	0.21686	0.561000	0.74099	AGG		0.612	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		55	114	1	0	1.4709e-25	0.00361	1.991e-25	55	114				
ANLN	54443	broad.mit.edu	37	7	36438973	36438973	+	Missense_Mutation	SNP	G	G	T	rs576328951		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:36438973G>T	ENST00000265748.2	+	3	679	c.458G>T	c.(457-459)cGg>cTg	p.R153L	ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	153	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448																																							uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.(457-459)CGG>CTG		anillin, actin binding protein							57.0	55.0	56.0					7																	36438973		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36438973G>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.458G>T	7.37:g.36438973G>T	ENSP00000265748:p.Arg153Leu					ANLN_uc011kaz.1_Missense_Mutation_p.R65L|ANLN_uc003tfg.2_Missense_Mutation_p.R153L|ANLN_uc010kxe.2_Missense_Mutation_p.R153L	p.R153L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			3	662	+			153			Nuclear localization.|Interaction with CD2AP.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.458G>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819467	0.90873	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.03272	3.99;3.99;3.99	5.56	5.56	0.83823	.	0.044900	0.85682	D	0.000000	T	0.20292	0.0488	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	T	0.00035	-1.2260	10	0.72032	D	0.01	-13.8935	19.91	0.97023	0.0:0.0:1.0:0.0	.	30;153;153;153	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	L	153;153;131	ENSP00000265748:R153L;ENSP00000379380:R153L;ENSP00000404979:R131L	ENSP00000265748:R153L	R	+	2	0	ANLN	36405498	1.000000	0.71417	0.930000	0.37139	0.688000	0.40055	7.714000	0.84703	2.782000	0.95742	0.655000	0.94253	CGG		0.448	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		30	49	1	0	7.26314e-15	0.007291	8.69094e-15	30	49				
AMPH	273	broad.mit.edu	37	7	38505777	38505777	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:38505777G>C	ENST00000356264.2	-	8	877	c.662C>G	c.(661-663)gCg>gGg	p.A221G	AMPH_ENST00000325590.5_Missense_Mutation_p.A221G|AMPH_ENST00000428293.2_Missense_Mutation_p.A221G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	221	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTCACCACCGCAATTTCCTT	0.353																																							uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(661-663)GCG>GGG		amphiphysin isoform 1							60.0	56.0	58.0					7																	38505777		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38505777G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.662C>G	7.37:g.38505777G>C	ENSP00000348602:p.Ala221Gly					AMPH_uc003tgv.2_Missense_Mutation_p.A221G|AMPH_uc003tgt.2_5'Flank	p.A221G	NM_001635	NP_001626	P49418	AMPH_HUMAN			8	731	-			221			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.662C>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511204	0.44660	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.60299	0.2;0.2;0.2	5.52	5.52	0.82312	BAR (3);	0.052575	0.85682	D	0.000000	T	0.31979	0.0814	N	0.01250	-0.93	0.58432	D	0.999994	B;B	0.18166	0.01;0.026	B;B	0.18263	0.008;0.021	T	0.24154	-1.0168	10	0.18710	T	0.47	-23.3897	19.442	0.94824	0.0:0.0:1.0:0.0	.	221;221	P49418-2;P49418	.;AMPH_HUMAN	G	221	ENSP00000317441:A221G;ENSP00000348602:A221G;ENSP00000390734:A221G	ENSP00000317441:A221G	A	-	2	0	AMPH	38472302	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	6.251000	0.72441	2.597000	0.87782	0.555000	0.69702	GCG		0.353	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		28	58	0	0	0	0.007291	0	28	58				
URGCP	55665	broad.mit.edu	37	7	43916471	43916471	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:43916471C>T	ENST00000453200.1	-	6	3084	c.2591G>A	c.(2590-2592)gGc>gAc	p.G864D	URGCP_ENST00000336086.6_Missense_Mutation_p.G821D|URGCP_ENST00000223341.7_Missense_Mutation_p.G821D|URGCP_ENST00000443736.1_Missense_Mutation_p.G821D|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.G821D|URGCP_ENST00000402306.3_Missense_Mutation_p.G855D			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	864	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGGCCAGGCCTGCCAGTGC	0.637																																							uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(2590-2592)GGC>GAC		up-regulated gene 4 isoform 3							32.0	34.0	34.0					7																	43916471		2003	4183	6186	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916471C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2591G>A	7.37:g.43916471C>T	ENSP00000396918:p.Gly864Asp					URGCP_uc003tiu.2_Missense_Mutation_p.G821D|URGCP_uc003tiv.2_Missense_Mutation_p.G789D|URGCP_uc003tix.2_Missense_Mutation_p.G855D|URGCP_uc003tiy.2_Missense_Mutation_p.G821D|URGCP_uc003tiz.2_Missense_Mutation_p.G821D|URGCP_uc011kbj.1_Missense_Mutation_p.G821D	p.G864D	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2648	-			864					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.2591G>A	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	1.132	-0.652080	0.03506	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27;3.27	5.13	1.33	0.21861	.	0.407967	0.27072	N	0.021072	T	0.01454	0.0047	N	0.00313	-1.665	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46414	-0.9193	10	0.02654	T	1	-20.4967	5.73	0.18034	0.0:0.5539:0.1742:0.2719	.	855;864	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	D	821;821;855;821;864;821	ENSP00000223341:G821D;ENSP00000336872:G821D;ENSP00000384955:G855D;ENSP00000392136:G821D;ENSP00000396918:G864D;ENSP00000402803:G821D	ENSP00000223341:G821D	G	-	2	0	URGCP	43882996	0.143000	0.22626	0.315000	0.25238	0.944000	0.59088	0.734000	0.26101	0.408000	0.25621	0.591000	0.81541	GGC		0.637	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		6	132	0	0	0	0.001984	0	6	132				
RASA4CP	401331	broad.mit.edu	37	7	44073792	44073792	+	RNA	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:44073792T>C	ENST00000446874.1	-	0	320									RAS p21 protein activator 4C, pseudogene																		CTCTTTTTGGTGGCAGCAGCT	0.622																																							uc011kbk.1		NA																	0					0						c.(649-651)CAC>CGC		RAS p21 protein activator 4 isoform 1																																						401331							g.chr7:44073792T>C			7p13	2012-07-04			ENSG00000228903	ENSG00000228903			44185	pseudogene	pseudogene							Standard	NR_024116		Approved		uc011kbk.1		OTTHUMG00000155354		7.37:g.44073792T>C						RASA4P_uc003tji.2_RNA|RASA4P_uc010kxx.2_RNA	p.H217R	NM_006989	NP_008920					6	755	-									Missense_Mutation	SNP	ENST00000446874.1	37	c.650A>G																																																																																					0.622	RASA4CP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339613.1	NR_024116		59	40	0	0	0	0.00361	0	59	40				
TNS3	64759	broad.mit.edu	37	7	47384412	47384412	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:47384412G>A	ENST00000398879.1	-	20	2957	c.2591C>T	c.(2590-2592)cCg>cTg	p.P864L	TNS3_ENST00000311160.9_Missense_Mutation_p.P864L|TNS3_ENST00000355730.3_Missense_Mutation_p.P624L			Q68CZ2	TENS3_HUMAN	tensin 3	864					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGCTGAACGGAGGATGGCG	0.597																																							uc003tnv.2		NA																	0				ovary(4)	4						c.(2590-2592)CCG>CTG		tensin 3							57.0	65.0	62.0					7																	47384412		2019	4172	6191	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47384412G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2591C>T	7.37:g.47384412G>A	ENSP00000381854:p.Pro864Leu					TNS3_uc003tnw.2_Missense_Mutation_p.P864L	p.P864L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			20	2958	-			864					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2591C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090369	0.20471	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94000	-2.87;-2.87;-3.33;-3.01	5.55	-0.514	0.11958	.	2.247710	0.01647	N	0.024352	D	0.87346	0.6154	L	0.34521	1.04	0.09310	N	0.999998	B	0.27117	0.168	B	0.17722	0.019	T	0.74478	-0.3652	10	0.45353	T	0.12	-9.4839	2.1146	0.03711	0.1959:0.1197:0.4897:0.1948	.	864	Q68CZ2	TENS3_HUMAN	L	864;974;864;624;320;967	ENSP00000312143:P864L;ENSP00000381854:P864L;ENSP00000347968:P624L;ENSP00000414358:P967L	ENSP00000312143:P864L	P	-	2	0	TNS3	47350937	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.163000	0.09997	-0.020000	0.14032	0.462000	0.41574	CCG		0.597	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		9	186	0	0	0	0.006214	0	9	186				
SUN3	256979	broad.mit.edu	37	7	48046872	48046872	+	Nonsense_Mutation	SNP	C	C	A	rs145833872		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:48046872C>A	ENST00000297325.4	-	5	541	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	SUN3_ENST00000395572.2_Nonsense_Mutation_p.E128*|SUN3_ENST00000412142.1_Nonsense_Mutation_p.E28*|SUN3_ENST00000453192.2_Nonsense_Mutation_p.E116*	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	128						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.E128K(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTATTTGTTCGATCAAAAAT	0.418																																							uc003tof.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	central_nervous_system(1)	1						c.(382-384)GAA>TAA		Sad1 and UNC84 domain containing 1							120.0	115.0	117.0					7																	48046872		2203	4300	6503	SO:0001587	stop_gained	256979					integral to membrane		g.chr7:48046872C>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.382G>T	7.37:g.48046872C>A	ENSP00000297325:p.Glu128*					SUN3_uc010kyq.2_Nonsense_Mutation_p.E28*|SUN3_uc003tog.2_Nonsense_Mutation_p.E128*|SUN3_uc011kcf.1_Nonsense_Mutation_p.E116*	p.E128*	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			6	479	-			128			Potential.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Nonsense_Mutation	SNP	ENST00000297325.4	37	c.382G>T	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280122	0.95489	.	.	ENSG00000164744	ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	.	.	.	5.56	4.49	0.54785	.	0.156786	0.41294	D	0.000903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	10.1888	0.43013	0.0:0.8957:0.0:0.1043	.	.	.	.	X	128;28;128;116;28	.	ENSP00000297325:E128X	E	-	1	0	SUN3	48013397	0.835000	0.29415	0.739000	0.30968	0.314000	0.28054	1.259000	0.32956	2.613000	0.88420	0.655000	0.94253	GAA		0.418	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		63	80	1	0	5.7554e-21	0.00361	7.42144e-21	63	80				
CDC14C	168448	broad.mit.edu	37	7	48965435	48965435	+	IGR	SNP	C	C	T	rs202081194		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:48965435C>T								AC004899.1 (74214 upstream) : AC010971.1 (304297 downstream)																							ACAGTGATGACGACGAAATCA	0.463																																							uc010kyv.1		NA																	0					0						c.(1165-1167)GAC>GAT		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48965435C>T																													7.37:g.48965435C>T							p.D389D	NR_003595						1	1279	+									Silent	SNP		37	c.1167C>T																																																																																				0	0.463									5	60	0	0	0	0.001855	0	5	60				
COBL	23242	broad.mit.edu	37	7	51258687	51258687	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:51258687G>A	ENST00000265136.7	-	4	710	c.545C>T	c.(544-546)cCa>cTa	p.P182L	COBL_ENST00000395542.2_Missense_Mutation_p.P182L|COBL_ENST00000441453.1_Missense_Mutation_p.P182L|COBL_ENST00000395540.2_Missense_Mutation_p.P182L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	182					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACAAATGACTGGGAGAATATT	0.527																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(544-546)CCA>CTA		cordon-bleu homolog							62.0	58.0	59.0					7																	51258687		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51258687G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.545C>T	7.37:g.51258687G>A	ENSP00000265136:p.Pro182Leu					COBL_uc003tps.2_Missense_Mutation_p.P182L|COBL_uc011kcl.1_Missense_Mutation_p.P182L|COBL_uc010kzc.2_Missense_Mutation_p.P182L|COBL_uc003tpt.2_Missense_Mutation_p.P182L|COBL_uc003tpp.3_5'UTR|COBL_uc003tpq.3_Missense_Mutation_p.P98L	p.P182L	NM_015198	NP_056013	O75128	COBL_HUMAN			4	730	-	Glioma(55;0.08)		182					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.545C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519820	0.85495	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453	T;T;T;T;T	0.39997	1.05;2.01;1.05;1.05;1.05	5.93	5.93	0.95920	Cordon-bleu domain (1);	0.000000	0.43416	D	0.000577	T	0.65585	0.2705	M	0.69185	2.1	0.80722	D	1	D;B;D;P;D	0.89917	1.0;0.311;1.0;0.877;1.0	D;B;D;P;D	0.91635	0.999;0.286;0.999;0.876;0.999	T	0.64859	-0.6308	10	0.62326	D	0.03	.	19.328	0.94270	0.0:0.0:1.0:0.0	.	182;182;182;182;182	O75128-3;O75128-5;O75128-7;O75128;O75128-2	.;.;.;COBL_HUMAN;.	L	182;49;182;182;182	ENSP00000265136:P182L;ENSP00000401204:P49L;ENSP00000378912:P182L;ENSP00000378910:P182L;ENSP00000399500:P182L	ENSP00000265136:P182L	P	-	2	0	COBL	51226181	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	9.650000	0.98490	2.811000	0.96726	0.557000	0.71058	CCA		0.527	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		12	132	0	0	0	0.010729	0	12	132				
ZNF716	441234	broad.mit.edu	37	7	57522870	57522870	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:57522870C>A	ENST00000420713.1	+	3	370	c.258C>A	c.(256-258)caC>caA	p.H86Q		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	86	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAGCCAAACACCCAGGTAGGT	0.443																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(256-258)CAC>CAA		zinc finger protein 716							88.0	70.0	76.0					7																	57522870		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522870C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.258C>A	7.37:g.57522870C>A	ENSP00000394248:p.His86Gln						p.H86Q	NM_001159279	NP_001152751					3	370	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.258C>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	7.233	0.599734	0.13939	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05025	3.51	0.793	-0.438	0.12268	Krueppel-associated box (1);	.	.	.	.	T	0.03095	0.0091	N	0.16266	0.395	0.09310	N	0.999997	B	0.33694	0.421	B	0.29942	0.109	T	0.43261	-0.9402	9	0.32370	T	0.25	.	2.7086	0.05168	0.0:0.5546:0.0:0.4454	.	74	A6NP11	ZN716_HUMAN	Q	86;74	ENSP00000394248:H86Q	ENSP00000387687:H74Q	H	+	3	2	ZNF716	57526812	0.000000	0.05858	0.703000	0.30354	0.707000	0.40811	-0.464000	0.06688	0.283000	0.22279	0.289000	0.19496	CAC		0.443	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		105	171	1	0	1.97301e-41	0.00361	2.92078e-41	105	171				
HIP1	3092	broad.mit.edu	37	7	75174446	75174446	+	Missense_Mutation	SNP	C	C	G	rs138790100	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:75174446C>G	ENST00000336926.6	-	26	2626	c.2600G>C	c.(2599-2601)cGa>cCa	p.R867P	HIP1_ENST00000434438.2_Missense_Mutation_p.R816P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	867	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTGTCCATCGAGAGTTCTT	0.468			T	PDGFRB	CMML																																		uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2599-2601)CGA>CCA		huntingtin interacting protein 1							135.0	137.0	136.0					7																	75174446		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75174446C>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2600G>C	7.37:g.75174446C>G	ENSP00000336747:p.Arg867Pro					HIP1_uc011kfz.1_Missense_Mutation_p.R693P	p.R867P	NM_005338	NP_005329	O00291	HIP1_HUMAN			26	2641	-			867			Important for actin binding (By similarity).|I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2600G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	29.5	5.013853	0.93404	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.52526	0.66;0.66	5.6	5.6	0.85130	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.956	D	0.83494	0.0071	10	0.87932	D	0	-18.0615	18.1669	0.89731	0.0:1.0:0.0:0.0	.	816;867	E7ES17;O00291	.;HIP1_HUMAN	P	867;816	ENSP00000336747:R867P;ENSP00000410300:R816P	ENSP00000336747:R867P	R	-	2	0	HIP1	75012382	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.488000	0.81441	2.644000	0.89710	0.655000	0.94253	CGA		0.468	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		63	212	0	0	0	0.00361	0	63	212				
ABCB1	5243	broad.mit.edu	37	7	87199501	87199501	+	Nonsense_Mutation	SNP	C	C	A	rs189559454	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:87199501C>A	ENST00000265724.3	-	6	742	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.E109*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	109	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTCATGTCTTCCTCCAGATTC	0.318																																							uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(325-327)GAA>TAA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						149.0	142.0	144.0					7																	87199501		2203	4297	6500	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87199501C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.325G>T	7.37:g.87199501C>A	ENSP00000265724:p.Glu109*					ABCB1_uc011khc.1_Nonsense_Mutation_p.E109*	p.E109*	NM_000927	NP_000918	P08183	MDR1_HUMAN			6	743	-	Esophageal squamous(14;0.00164)		109			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.325G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	38	6.759739	0.97817	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	.	.	.	4.93	-2.66	0.06077	.	0.165039	0.21710	U	0.070283	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-0.6509	6.3563	0.21402	0.0:0.4687:0.1202:0.4111	.	.	.	.	X	109	.	ENSP00000265724:E109X	E	-	1	0	ABCB1	87037437	0.000000	0.05858	0.010000	0.14722	0.488000	0.33401	-0.628000	0.05515	-0.684000	0.05183	0.655000	0.94253	GAA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		79	39	1	0	9.90312e-32	0.00361	1.3944e-31	79	39				
SAMD9L	219285	broad.mit.edu	37	7	92762732	92762732	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:92762732C>T	ENST00000318238.4	-	5	3769	c.2553G>A	c.(2551-2553)ttG>ttA	p.L851L	SAMD9L_ENST00000411955.1_Silent_p.L851L|SAMD9L_ENST00000437805.1_Silent_p.L851L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	851					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGTCTGCCAATTTTGCAC	0.373																																							uc003umh.1		NA																	0				ovary(4)	4						c.(2551-2553)TTG>TTA		sterile alpha motif domain containing 9-like							96.0	103.0	101.0					7																	92762732		2203	4298	6501	SO:0001819	synonymous_variant	219285							g.chr7:92762732C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2553G>A	7.37:g.92762732C>T						SAMD9L_uc003umj.1_Silent_p.L851L|SAMD9L_uc003umi.1_Silent_p.L851L|SAMD9L_uc010lfb.1_Silent_p.L851L|SAMD9L_uc003umk.1_Silent_p.L851L|SAMD9L_uc010lfc.1_Silent_p.L851L|SAMD9L_uc010lfd.1_Silent_p.L851L|SAMD9L_uc011khx.1_Intron	p.L851L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3769	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		851					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2553G>A	CCDS34681.1																																																																																				0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		40	98	0	0	0	0.006999	0	40	98				
TECPR1	25851	broad.mit.edu	37	7	97862266	97862266	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:97862266T>A	ENST00000447648.2	-	12	1990	c.1691A>T	c.(1690-1692)cAc>cTc	p.H564L	TECPR1_ENST00000542604.1_Missense_Mutation_p.H494L|TECPR1_ENST00000379795.3_Missense_Mutation_p.H565L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	564					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGACAGCATGTGTACCGAGGA	0.662																																							uc003upg.2		NA																	0				pancreas(1)	1						c.(1690-1692)CAC>CTC		tectonin beta-propeller repeat containing 1							47.0	53.0	51.0					7																	97862266		2124	4232	6356	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97862266T>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1691A>T	7.37:g.97862266T>A	ENSP00000404923:p.His564Leu					TECPR1_uc003uph.1_Missense_Mutation_p.H494L	p.H564L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			12	1896	-			564					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1691A>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.110907	0.37242	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30182	1.55;1.54;1.55	5.0	5.0	0.66597	.	0.186984	0.47455	D	0.000222	T	0.22205	0.0535	N	0.22421	0.69	0.32269	N	0.569191	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13764	-1.0497	10	0.35671	T	0.21	-16.0034	13.8994	0.63794	0.0:0.0:0.0:1.0	.	494;564	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	564;565;494	ENSP00000404923:H564L;ENSP00000369121:H565L;ENSP00000441121:H494L	ENSP00000369121:H565L	H	-	2	0	TECPR1	97700202	1.000000	0.71417	0.990000	0.47175	0.095000	0.18619	5.575000	0.67430	1.886000	0.54624	0.379000	0.24179	CAC		0.662	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		5	91	0	0	0	0.000602	0	5	91				
TRRAP	8295	broad.mit.edu	37	7	98582624	98582624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:98582624G>T	ENST00000359863.4	+	61	9567	c.9358G>T	c.(9358-9360)Gaa>Taa	p.E3120*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E3091*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E3091*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3120	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GATGACAGCCGAATTTTATGC	0.299																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9358-9360)GAA>TAA		transformation/transcription domain-associated							87.0	87.0	87.0					7																	98582624		2203	4299	6502	SO:0001587	stop_gained	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98582624G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9358G>T	7.37:g.98582624G>T	ENSP00000352925:p.Glu3120*					TRRAP_uc011kis.1_Nonsense_Mutation_p.E3091*|TRRAP_uc003upr.2_Nonsense_Mutation_p.E2808*	p.E3120*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		61	9567	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3120			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.9358G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	52	18.968633	0.99913	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	.	.	.	X	3120;3091;3090	.	ENSP00000347733:E3091X	E	+	1	0	TRRAP	98420560	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.813000	0.99286	2.814000	0.96858	0.655000	0.94253	GAA		0.299	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		34	66	1	0	8.16277e-20	0.006999	1.04025e-19	34	66				
MUC17	140453	broad.mit.edu	37	7	100681040	100681040	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:100681040G>T	ENST00000306151.4	+	3	6407	c.6343G>T	c.(6343-6345)Gcc>Tcc	p.A2115S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2115	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCGGTGGCCAGTCCTGA	0.498																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6343-6345)GCC>TCC		mucin 17 precursor							213.0	216.0	215.0					7																	100681040		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681040G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6343G>T	7.37:g.100681040G>T	ENSP00000302716:p.Ala2115Ser					MUC17_uc010lho.1_RNA	p.A2115S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6396	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2115			Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6343G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.252	-0.618187	0.03663	.	.	ENSG00000169876	ENST00000306151	T	0.02579	4.24	0.942	-1.88	0.07713	.	.	.	.	.	T	0.01627	0.0052	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.49661	-0.8916	9	0.07813	T	0.8	.	0.0762	0.00027	0.3101:0.2374:0.215:0.2374	.	2115	Q685J3	MUC17_HUMAN	S	2115	ENSP00000302716:A2115S	ENSP00000302716:A2115S	A	+	1	0	MUC17	100467760	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.213000	0.01224	-1.082000	0.03101	0.134000	0.15878	GCC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		326	170	1	0	3.77821e-141	0.00361	5.99133e-141	326	170				
ASZ1	136991	broad.mit.edu	37	7	117007429	117007429	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:117007429T>C	ENST00000284629.2	-	12	1314	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTTTTAGTTTGCAGACCTTT	0.328																																							uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1252-1254)AAA>GAA		ankyrin repeat, SAM and basic leucine zipper							52.0	50.0	51.0					7																	117007429		2202	4298	6500	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117007429T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1252A>G	7.37:g.117007429T>C	ENSP00000284629:p.Lys418Glu					ASZ1_uc011kno.1_Missense_Mutation_p.K409E|ASZ1_uc011knp.1_Missense_Mutation_p.K210E	p.K418E	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		12	1315	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		418						Missense_Mutation	SNP	ENST00000284629.2	37	c.1252A>G	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489334	0.26686	.	.	ENSG00000154438	ENST00000284629	T	0.81163	-1.46	5.3	5.3	0.74995	.	0.220283	0.47455	D	0.000231	T	0.74749	0.3757	L	0.43152	1.355	0.23454	N	0.997643	B;B	0.26602	0.154;0.154	B;B	0.30105	0.05;0.111	T	0.62728	-0.6793	10	0.25106	T	0.35	-44.0183	14.1023	0.65065	0.0:0.0:0.0:1.0	.	409;418	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	E	418	ENSP00000284629:K418E	ENSP00000284629:K418E	K	-	1	0	ASZ1	116794665	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	3.382000	0.52463	2.135000	0.66039	0.482000	0.46254	AAA		0.328	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		30	15	0	0	0	0.008361	0	30	15				
GRM8	2918	broad.mit.edu	37	7	126086280	126086280	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:126086280C>A	ENST00000339582.2	-	10	3385	c.2577G>T	c.(2575-2577)gtG>gtT	p.V859V	GRM8_ENST00000444921.2_Silent_p.V859V|GRM8_ENST00000358373.3_Silent_p.V859V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	859					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAGCTGTCACCACAGCCTTGA	0.423										HNSCC(24;0.065)																													uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2575-2577)GTG>GTT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						179.0	161.0	167.0					7																	126086280		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086280C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2577G>T	7.37:g.126086280C>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.V859V|GRM8_uc010lkz.1_RNA	p.V859V	NM_000845	NP_000836	O00222	GRM8_HUMAN			9	2888	-		Prostate(267;0.186)	859			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2577G>T	CCDS5794.1																																																																																				0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			104	58	1	0	9.16707e-34	0.00361	1.30958e-33	104	58				
PAX4	5078	broad.mit.edu	37	7	127251249	127251249	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:127251249G>T	ENST00000341640.2	-	9	1106	c.901C>A	c.(901-903)Cca>Aca	p.P301T	PAX4_ENST00000463946.1_Missense_Mutation_p.P299T|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	312	Transcription repression.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCGGCTGTGGGGGCAAGTGG	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(901-903)CCA>ACA		paired box 4							44.0	43.0	43.0					7																	127251249		2201	4300	6501	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251249G>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.901C>A	7.37:g.127251249G>T	ENSP00000339906:p.Pro301Thr					PAX4_uc003vmf.2_Missense_Mutation_p.P299T|PAX4_uc003vmg.1_Intron	p.P301T	NM_006193	NP_006184	O43316	PAX4_HUMAN			9	1107	-			312			Transcription repression.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.901C>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185204	0.38609	.	.	ENSG00000106331	ENST00000341640;ENST00000463946	D;D	0.94046	-3.34;-3.21	5.11	1.89	0.25635	.	1.582480	0.04099	N	0.312512	D	0.89476	0.6726	L	0.50333	1.59	0.09310	N	0.999998	B;B	0.31290	0.0;0.318	B;B	0.26416	0.003;0.069	T	0.75706	-0.3224	10	0.22706	T	0.39	.	5.7266	0.18017	0.0946:0.0:0.4687:0.4367	.	301;299	O43316-4;G3V4Q1	.;.	T	301;299	ENSP00000339906:P301T;ENSP00000451923:P299T	ENSP00000339906:P301T	P	-	1	0	PAX4	127038485	0.001000	0.12720	0.012000	0.15200	0.293000	0.27360	0.253000	0.18296	0.457000	0.26962	0.655000	0.94253	CCA		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			13	12	1	0	3.35478e-16	0.003163	4.11474e-16	13	12				
PLXNA4	91584	broad.mit.edu	37	7	132193099	132193099	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:132193099G>A	ENST00000359827.3	-	2	1316	c.354C>T	c.(352-354)ctC>ctT	p.L118L	PLXNA4_ENST00000378539.5_Silent_p.L118L|PLXNA4_ENST00000423507.2_Silent_p.L118L|PLXNA4_ENST00000321063.4_Silent_p.L118L			Q9HCM2	PLXA4_HUMAN	plexin A4	118	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTCTATGAGGAGCATCTTGT	0.577																																							uc003vra.3		NA																	0				ovary(1)	1						c.(352-354)CTC>CTT		plexin A4 isoform 1							56.0	54.0	55.0					7																	132193099		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193099G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.354C>T	7.37:g.132193099G>A						PLXNA4_uc003vrc.2_Silent_p.L118L|PLXNA4_uc003vrb.2_Silent_p.L118L	p.L118L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	583	-			118			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.354C>T	CCDS43646.1																																																																																				0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		37	64	0	0	0	0.005524	0	37	64				
UBN2	254048	broad.mit.edu	37	7	138958816	138958816	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:138958816G>A	ENST00000473989.3	+	11	1969	c.1969G>A	c.(1969-1971)Gca>Aca	p.A657T	UBN2_ENST00000288561.8_Missense_Mutation_p.A574T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	657						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTGGATGCAGGCAAGGTAAGA	0.348																																							uc011kqr.1		NA																	0				ovary(1)|skin(1)	2						c.(1969-1971)GCA>ACA		ubinuclein 2							80.0	77.0	78.0					7																	138958816		1826	4082	5908	SO:0001583	missense	254048							g.chr7:138958816G>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1969G>A	7.37:g.138958816G>A	ENSP00000418648:p.Ala657Thr					UBN2_uc003vuv.2_Missense_Mutation_p.A380T	p.A657T	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			11	1969	+			657					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.1969G>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415331	0.83449	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.43688	0.94;0.94	5.03	5.03	0.67393	.	0.052207	0.85682	D	0.000000	T	0.49795	0.1578	L	0.45698	1.435	0.44643	D	0.997625	D	0.61080	0.989	P	0.57101	0.813	T	0.36016	-0.9765	10	0.30854	T	0.27	-13.4924	13.6579	0.62349	0.0:0.0:0.8452:0.1547	.	657	Q6ZU65	UBN2_HUMAN	T	657;574	ENSP00000418648:A657T;ENSP00000288561:A574T	ENSP00000288561:A574T	A	+	1	0	UBN2	138609356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.136000	0.50554	2.483000	0.83821	0.650000	0.86243	GCA		0.348	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		31	24	0	0	0	0.010818	0	31	24				
TAS2R38	5726	broad.mit.edu	37	7	141672860	141672860	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:141672860C>G	ENST00000547270.1	-	1	713	c.630G>C	c.(628-630)ctG>ctC	p.L210L		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	210					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGAAGAAACCAGAAACAATA	0.448																																							uc003vwx.1		NA																	0				kidney(1)|skin(1)	2						c.(628-630)CTG>CTC		taste receptor, type 2, member 38							104.0	112.0	109.0					7																	141672860		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672860C>G	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.630G>C	7.37:g.141672860C>G							p.L210L	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	714	-	Melanoma(164;0.0171)		210			Helical; Name=5; (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.630G>C	CCDS34765.1																																																																																				0.448	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		3	110	0	0	0	0.004672	0	3	110				
CLCN1	1180	broad.mit.edu	37	7	143027884	143027884	+	Missense_Mutation	SNP	G	G	T	rs202218267		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:143027884G>T	ENST00000343257.2	+	8	960	c.873G>T	c.(871-873)gaG>gaT	p.E291D	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	291			E -> K (in MCR).		chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTAGCATCGAGGTCACCTCCA	0.557																																							uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(871-873)GAG>GAT		chloride channel 1, skeletal muscle							146.0	113.0	124.0					7																	143027884		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143027884G>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.873G>T	7.37:g.143027884G>T	ENSP00000339867:p.Glu291Asp					CLCN1_uc011ktc.1_Translation_Start_Site|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Missense_Mutation_p.R87M	p.E291D	NM_000083	NP_000074	P35523	CLCN1_HUMAN			8	960	+	Melanoma(164;0.205)		291		E -> K (in MCR).			A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.873G>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824230	0.71143	.	.	ENSG00000188037	ENST00000343257	D	0.99277	-5.67	4.57	3.68	0.42216	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.97829	4.085	0.47819	D	0.999523	D	0.89917	1.0	D	0.91635	0.999	D	0.97849	1.0273	10	0.87932	D	0	.	10.519	0.44907	0.1577:0.0:0.8423:0.0	.	291	P35523	CLCN1_HUMAN	D	291	ENSP00000339867:E291D	ENSP00000339867:E291D	E	+	3	2	CLCN1	142738006	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.804000	0.47931	2.087000	0.62958	0.453000	0.30009	GAG		0.557	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		65	25	1	0	5.45122e-27	0.00361	7.48207e-27	65	25				
OR2A25	392138	broad.mit.edu	37	7	143771609	143771609	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:143771609G>C	ENST00000408898.2	+	1	335	c.297G>C	c.(295-297)caG>caC	p.Q99H		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCATGACCCAGATGTTTCTGT	0.542																																							uc011ktx.1		NA																	0					0						c.(295-297)CAG>CAC		olfactory receptor, family 2, subfamily A,							80.0	87.0	84.0					7																	143771609		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771609G>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.297G>C	7.37:g.143771609G>C	ENSP00000386167:p.Gln99His						p.Q99H	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	297	+	Melanoma(164;0.0783)		99			Extracellular (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.297G>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338374	0.41398	.	.	ENSG00000221933	ENST00000408898	T	0.00472	7.19	4.88	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02380	0.0073	H	0.97564	4.03	0.38409	D	0.945876	D	0.89917	1.0	D	0.85130	0.997	T	0.05386	-1.0888	9	0.87932	D	0	-6.9526	9.5361	0.39224	0.1755:0.0:0.8245:0.0	.	99	A4D2G3	O2A25_HUMAN	H	99	ENSP00000386167:Q99H	ENSP00000386167:Q99H	Q	+	3	2	OR2A25	143402542	0.137000	0.22531	0.996000	0.52242	0.335000	0.28730	0.410000	0.21098	0.635000	0.30488	0.563000	0.77884	CAG		0.542	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			30	77	0	0	0	0.008361	0	30	77				
ASB10	136371	broad.mit.edu	37	7	150878331	150878331	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:150878331C>T	ENST00000420175.2	-	3	823	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ASB10_ENST00000434669.1_Missense_Mutation_p.E312K|ASB10_ENST00000377867.3_Missense_Mutation_p.E252K|ASB10_ENST00000422024.1_Missense_Mutation_p.E312K|ASB10_ENST00000275838.1_Missense_Mutation_p.E267K			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	267					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGTGGCCTCGGCATCGGTG	0.657																																							uc003wjm.1		NA																	0					0						c.(934-936)GAG>AAG		ankyrin repeat and SOCS box-containing 10							31.0	33.0	32.0					7																	150878331		2203	4298	6501	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878331C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.799G>A	7.37:g.150878331C>T	ENSP00000391137:p.Glu267Lys					ASB10_uc003wjl.1_Missense_Mutation_p.E312K|ASB10_uc003wjn.1_Missense_Mutation_p.E252K	p.E312K	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1060	-			267			ANK 5.		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.934G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478027	0.26511	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.68903	-0.36;-0.35;-0.32;-0.32;-0.35	5.24	3.42	0.39159	Ankyrin repeat-containing domain (3);	0.229184	0.30639	N	0.009196	T	0.63558	0.2521	L	0.28344	0.845	0.18873	N	0.999983	D;D;D	0.71674	0.994;0.996;0.998	P;P;P	0.60609	0.722;0.772;0.877	T	0.53358	-0.8450	10	0.22706	T	0.39	-3.2598	8.7986	0.34894	0.0:0.8221:0.0:0.1779	.	252;267;312	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	K	267;252;312;312;267	ENSP00000275838:E267K;ENSP00000367098:E252K;ENSP00000401369:E312K;ENSP00000398247:E312K;ENSP00000391137:E267K	ENSP00000275838:E267K	E	-	1	0	ASB10	150509264	0.380000	0.25131	0.518000	0.27811	0.006000	0.05464	0.547000	0.23299	0.702000	0.31825	-0.150000	0.13652	GAG		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	30	0	0	0	0.001984	0	6	30				
KMT2C	58508	broad.mit.edu	37	7	151970866	151970866	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:151970866T>A	ENST00000262189.6	-	7	1154	c.936A>T	c.(934-936)gcA>gcT	p.A312A	KMT2C_ENST00000355193.2_Silent_p.A312A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	312					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCCGGCTCCTGCAGCACAAG	0.438																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(934-936)GCA>GCT		myeloid/lymphoid or mixed-lineage leukemia 3							238.0	222.0	227.0					7																	151970866		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970866T>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.936A>T	7.37:g.151970866T>A							p.A312A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1155	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	312					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.936A>T	CCDS5931.1																																																																																				0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	245	0	0	0	0.001168	0	6	245				
CSMD1	64478	broad.mit.edu	37	8	2976080	2976080	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:2976080G>T	ENST00000520002.1	-	43	6829	c.6274C>A	c.(6274-6276)Ccc>Acc	p.P2092T	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2092T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2092T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2091T|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2092T|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2091T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2092	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAAATGGGGGTGGATCTGGA	0.408																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(6274-6276)CCC>ACC		CUB and Sushi multiple domains 1 precursor							125.0	120.0	121.0					8																	2976080		1951	4136	6087	SO:0001583	missense	64478					integral to membrane		g.chr8:2976080G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6274C>A	8.37:g.2976080G>T	ENSP00000430733:p.Pro2092Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.P1484T|CSMD1_uc010lrg.2_Missense_Mutation_p.P160T	p.P2092T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	42	6664	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2092			Extracellular (Potential).|Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6274C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.18|11.18	1.563363|1.563363	0.27915|0.27915	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Complement control module (2);Sushi/SCR/CCP (3);|.	0.144744|.	0.46758|.	D|.	0.000261|.	T|T	0.50274|0.50274	0.1606|0.1606	L|L	0.38531|0.38531	1.155|1.155	0.21527|0.21527	N|N	0.999656|0.999656	D;B;B|.	0.57257|.	0.979;0.047;0.321|.	P;B;B|.	0.57846|.	0.828;0.216;0.205|.	T|T	0.44559|0.44559	-0.9320|-0.9320	10|5	0.52906|.	T|.	0.07|.	.|.	18.734|18.734	0.91748|0.91748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2092;2092;2091|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|N	2092;2092;1953;2091;2091|1571	ENSP00000383047:P2092T;ENSP00000430733:P2092T;ENSP00000441462:P2091T;ENSP00000446243:P2091T|.	ENSP00000320445:P1953T|.	P|T	-|-	1|2	0|0	CSMD1|CSMD1	2963487|2963487	0.891000|0.891000	0.30450|0.30450	0.111000|0.111000	0.21465|0.21465	0.976000|0.976000	0.68499|0.68499	3.294000|3.294000	0.51787|0.51787	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	CCC|ACC		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		35	48	1	0	1.57019e-19	0.007835	1.9881e-19	35	48				
MCPH1	79648	broad.mit.edu	37	8	6302793	6302793	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:6302793A>C	ENST00000344683.5	+	8	1626	c.1550A>C	c.(1549-1551)gAc>gCc	p.D517A	MCPH1_ENST00000522905.1_Missense_Mutation_p.D469A|MCPH1_ENST00000519480.1_Missense_Mutation_p.D517A	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	517					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAAAGAAGACGCATGCCCA	0.493																																					Colon(95;1448 1467 8277 34473 35819)	Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1549-1551)GAC>GCC		microcephalin							86.0	87.0	87.0					8																	6302793		1910	4123	6033	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302793A>C	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1550A>C	8.37:g.6302793A>C	ENSP00000342924:p.Asp517Ala					MCPH1_uc003wqh.2_Missense_Mutation_p.D517A|MCPH1_uc011kwl.1_Missense_Mutation_p.D469A	p.D517A	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1618	+		Hepatocellular(245;0.0663)	517					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1550A>C	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220721	0.39201	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.12879	2.64;2.64;2.64	5.35	-1.98	0.07480	.	1.344670	0.04772	N	0.428158	T	0.26521	0.0648	M	0.73217	2.22	0.09310	N	1	B;B;B	0.34147	0.09;0.438;0.338	B;P;B	0.45998	0.13;0.5;0.282	T	0.49934	-0.8886	10	0.51188	T	0.08	-2.2058	9.5126	0.39087	0.5975:0.0:0.4025:0.0	.	469;517;517	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	A	517;517;469	ENSP00000342924:D517A;ENSP00000430962:D517A;ENSP00000430768:D469A	ENSP00000342924:D517A	D	+	2	0	MCPH1	6290201	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.305000	0.19254	-0.399000	0.07668	0.533000	0.62120	GAC		0.493	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		33	50	0	0	0	0.003755	0	33	50				
MSRA	4482	broad.mit.edu	37	8	10177447	10177447	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:10177447C>T	ENST00000317173.4	+	5	740	c.491C>T	c.(490-492)aCc>aTc	p.T164I	MSRA_ENST00000518255.1_Missense_Mutation_p.T164I|MSRA_ENST00000528246.1_Missense_Mutation_p.T98I|MSRA_ENST00000441698.2_Missense_Mutation_p.T124I|MSRA_ENST00000382490.5_Missense_Mutation_p.T121I	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	164					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATCTACCCGACCTCTGCCAAG	0.577																																					NSCLC(88;1378 1469 30580 49103 52286)	NSCLC(88;1378 1469 30580 49103 52286)	uc003wsx.2		NA																	0					0						c.(490-492)ACC>ATC		methionine sulfoxide reductase A isoform a	L-Methionine(DB00134)						72.0	59.0	63.0					8																	10177447		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10177447C>T	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.491C>T	8.37:g.10177447C>T	ENSP00000313921:p.Thr164Ile					MSRA_uc011kwx.1_Missense_Mutation_p.T124I|MSRA_uc011kwy.1_Missense_Mutation_p.T121I|MSRA_uc003wsz.2_Missense_Mutation_p.T121I|MSRA_uc003wsy.2_Missense_Mutation_p.T98I	p.T164I	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN			5	688	+		Myeloproliferative disorder(644;0.178)	164					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.491C>T	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	C	3.303	-0.142413	0.06669	.	.	ENSG00000175806	ENST00000317173;ENST00000441698;ENST00000518255;ENST00000528246;ENST00000382490	.	.	.	5.58	4.7	0.59300	.	0.437677	0.26620	N	0.023377	T	0.29093	0.0723	L	0.46670	1.46	0.09310	N	1	P;P;B;B	0.36222	0.544;0.506;0.108;0.403	B;B;B;B	0.37601	0.254;0.108;0.062;0.145	T	0.18935	-1.0321	8	.	.	.	-10.0445	5.6108	0.17404	0.1592:0.6789:0.0:0.1619	.	121;124;121;164	B7Z694;Q9UJ68-4;Q9UJ68-3;Q9UJ68	.;.;.;MSRA_HUMAN	I	164;124;164;98;121	.	.	T	+	2	0	MSRA	10214857	0.003000	0.15002	0.004000	0.12327	0.079000	0.17450	1.175000	0.31944	1.349000	0.45751	0.555000	0.69702	ACC		0.577	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		5	19	0	0	0	0.001168	0	5	19				
PINX1	54984	broad.mit.edu	37	8	10622982	10622982	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:10622982C>A	ENST00000314787.3	-	7	1035	c.916G>T	c.(916-918)Gta>Tta	p.V306L	PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	306	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GCTATCTCTACTGGTTTTTGC	0.522																																							uc003wth.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(916-918)GTA>TTA		PIN2-interacting protein 1							60.0	57.0	58.0					8																	10622982		1857	4094	5951	SO:0001583	missense	54984				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding	g.chr8:10622982C>A	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.916G>T	8.37:g.10622982C>A	ENSP00000318966:p.Val306Leu					SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	p.V306L	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN		Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	949	-			306			Telomerase inhibitory domain (TID).		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.916G>T	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785438	0.49997	.	.	ENSG00000254093	ENST00000314787	T	0.16196	2.36	5.8	2.88	0.33553	.	1.310930	0.05148	N	0.495482	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.35076	-0.9803	10	0.19147	T	0.46	.	5.9325	0.19146	0.0:0.6684:0.1537:0.1779	.	306	Q96BK5	PINX1_HUMAN	L	306	ENSP00000318966:V306L	ENSP00000318966:V306L	V	-	1	0	PINX1	10660392	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	2.166000	0.42406	0.713000	0.32060	0.655000	0.94253	GTA		0.522	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884		18	22	1	0	2.4624e-09	0.008871	2.74846e-09	18	22				
PCM1	5108	broad.mit.edu	37	8	17796488	17796488	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:17796488G>C	ENST00000519253.1	+	5	833	c.582G>C	c.(580-582)ggG>ggC	p.G194G	PCM1_ENST00000325083.8_Silent_p.G194G|PCM1_ENST00000524226.1_Silent_p.G194G|PCM1_ENST00000518537.1_Silent_p.G194G			Q15154	PCM1_HUMAN	pericentriolar material 1	194					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGAAGATGGGAGGGGAGAAC	0.408			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																		uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(580-582)GGG>GGC		pericentriolar material 1							106.0	109.0	108.0					8																	17796488		1930	4135	6065	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17796488G>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.582G>C	8.37:g.17796488G>C						PCM1_uc011kyh.1_Silent_p.G194G|PCM1_uc003wyj.3_Silent_p.G194G|PCM1_uc003wyg.2_Silent_p.G194G|PCM1_uc003wyh.2_Silent_p.G194G|PCM1_uc010lta.1_Silent_p.G194G	p.G194G	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	5	1004	+			194					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37	c.582G>C																																																																																					0.408	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		23	23	0	0	0	0.00333	0	23	23				
DOCK5	80005	broad.mit.edu	37	8	25166439	25166439	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:25166439A>C	ENST00000276440.7	+	12	1234	c.1190A>C	c.(1189-1191)cAa>cCa	p.Q397P		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	397					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACAAAGGGCAAGGTACAGTC	0.493																																					Pancreas(145;34 1887 3271 10937 30165)	Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(1189-1191)CAA>CCA		dedicator of cytokinesis 5							71.0	60.0	64.0					8																	25166439		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25166439A>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1190A>C	8.37:g.25166439A>C	ENSP00000276440:p.Gln397Pro					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.Q111P|DOCK5_uc003xei.2_5'Flank	p.Q397P	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	12	1327	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	397					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1190A>C	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252140	0.80135	.	.	ENSG00000147459	ENST00000276440	T	0.18338	2.22	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000002	T	0.25680	0.0625	M	0.70595	2.14	0.80722	D	1	B;B	0.21147	0.052;0.002	B;B	0.24394	0.053;0.005	T	0.01824	-1.1266	10	0.62326	D	0.03	.	16.3636	0.83296	1.0:0.0:0.0:0.0	.	172;397	Q68DL4;Q9H7D0	.;DOCK5_HUMAN	P	397	ENSP00000276440:Q397P	ENSP00000276440:Q397P	Q	+	2	0	DOCK5	25222356	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.297000	0.96120	2.343000	0.79666	0.533000	0.62120	CAA		0.493	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		18	22	0	0	0	0.007413	0	18	22				
TTI2	80185	broad.mit.edu	37	8	33369537	33369537	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:33369537C>T	ENST00000431156.2	-	2	1213	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TTI2_ENST00000520636.1_Missense_Mutation_p.E199K|TTI2_ENST00000519356.1_5'Flank|SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000360742.5_Missense_Mutation_p.E199K	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	199																	CTCCCTTTCTCATCTTCATTT	0.483																																							uc003xjl.3		NA																	0					0						c.(595-597)GAG>AAG		hypothetical protein LOC80185							187.0	192.0	190.0					8																	33369537		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33369537C>T	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.595G>A	8.37:g.33369537C>T	ENSP00000411169:p.Glu199Lys					C8orf41_uc003xjk.3_Missense_Mutation_p.E199K|C8orf41_uc010lvv.2_Missense_Mutation_p.E199K|C8orf41_uc003xjm.3_Missense_Mutation_p.E199K|C8orf41_uc003xjn.1_Missense_Mutation_p.E199K	p.E199K	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	1	1120	-			199					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.595G>A	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725713	0.15439	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	T;T;T	0.77229	-0.29;-0.29;-1.08	4.66	1.65	0.23941	.	0.587434	0.17019	N	0.190192	T	0.69468	0.3114	M	0.65975	2.015	0.09310	N	1	B;B;B	0.25850	0.062;0.136;0.029	B;B;B	0.21151	0.033;0.023;0.033	T	0.52866	-0.8518	10	0.12766	T	0.61	-4.9961	9.2897	0.37780	0.1403:0.5538:0.3059:0.0	.	199;199;199	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	K	199	ENSP00000353971:E199K;ENSP00000411169:E199K;ENSP00000428401:E199K	ENSP00000353971:E199K	E	-	1	0	C8orf41	33489079	0.396000	0.25262	0.103000	0.21229	0.613000	0.37349	2.235000	0.43044	0.547000	0.28938	0.655000	0.94253	GAG		0.483	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		49	116	0	0	0	0.00361	0	49	116				
RNF122	79845	broad.mit.edu	37	8	33416262	33416262	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:33416262C>A	ENST00000256257.1	-	2	454	c.53G>T	c.(52-54)aGc>aTc	p.S18I		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	18						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTGTTGGTGCTAACCAGTCC	0.493																																							uc003xjo.1		NA																	0					0						c.(52-54)AGC>ATC		ring finger protein 122							101.0	97.0	99.0					8																	33416262		2203	4300	6503	SO:0001583	missense	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33416262C>A	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.53G>T	8.37:g.33416262C>A	ENSP00000256257:p.Ser18Ile						p.S18I	NM_024787	NP_079063	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	2	455	-			18					Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	c.53G>T	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671124	0.29693	.	.	ENSG00000133874	ENST00000256257	T	0.32272	1.46	5.2	3.1	0.35709	.	0.623860	0.18032	N	0.153899	T	0.14527	0.0351	N	0.14661	0.345	0.27435	N	0.953897	B	0.02656	0.0	B	0.04013	0.001	T	0.09378	-1.0677	10	0.22109	T	0.4	-25.2941	5.4838	0.16739	0.0:0.6333:0.211:0.1557	.	18	Q9H9V4	RN122_HUMAN	I	18	ENSP00000256257:S18I	ENSP00000256257:S18I	S	-	2	0	RNF122	33535804	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.972000	0.49256	2.405000	0.81733	0.655000	0.94253	AGC		0.493	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		13	36	1	0	9.31168e-06	0.001855	9.82287e-06	13	36				
ADAM2	2515	broad.mit.edu	37	8	39626924	39626924	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:39626924C>A	ENST00000265708.4	-	12	1302	c.1199G>T	c.(1198-1200)tGt>tTt	p.C400F	ADAM2_ENST00000521880.1_Missense_Mutation_p.C400F|ADAM2_ENST00000347580.4_Missense_Mutation_p.C381F|ADAM2_ENST00000379853.2_Missense_Mutation_p.C274F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	400	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCAGTCCCACAGTCACACTC	0.423																																							uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1198-1200)TGT>TTT		ADAM metallopeptidase domain 2 proprotein							163.0	152.0	156.0					8																	39626924		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626924C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1199G>T	8.37:g.39626924C>A	ENSP00000265708:p.Cys400Phe					ADAM2_uc003xnk.2_Missense_Mutation_p.C381F|ADAM2_uc011lck.1_Missense_Mutation_p.C400F|ADAM2_uc003xnl.2_Missense_Mutation_p.C274F	p.C400F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1274	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	400			Extracellular (Potential).|Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1199G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102004	0.37048	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.11	5.11	0.69529	Blood coagulation inhibitor, Disintegrin (4);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.57257	0.2041	H	0.97214	3.96	0.42599	D	0.993276	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.73135	-0.4078	8	.	.	.	.	14.4007	0.67044	0.0:1.0:0.0:0.0	.	400;274;381;400	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	F	381;274;400;400	ENSP00000343854:C381F;ENSP00000369182:C274F;ENSP00000265708:C400F;ENSP00000429352:C400F	.	C	-	2	0	ADAM2	39746081	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	4.281000	0.58965	2.535000	0.85469	0.650000	0.86243	TGT		0.423	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		33	110	1	0	4.11147e-13	0.003755	4.83123e-13	33	110				
KAT6A	7994	broad.mit.edu	37	8	41790299	41790299	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:41790299G>A	ENST00000396930.3	-	18	5982	c.5439C>T	c.(5437-5439)ccC>ccT	p.P1813P	KAT6A_ENST00000406337.1_Silent_p.P1813P|KAT6A_ENST00000265713.2_Silent_p.P1813P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1813					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCAAGTTTGGGGGTGGCGTCA	0.527																																							uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(5437-5439)CCC>CCT		MYST histone acetyltransferase (monocytic							180.0	173.0	176.0					8																	41790299		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790299G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5439C>T	8.37:g.41790299G>A						MYST3_uc010lxc.2_Silent_p.P1813P|MYST3_uc003xon.3_Silent_p.P1813P	p.P1813P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	5983	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1813					Q76L81	Silent	SNP	ENST00000396930.3	37	c.5439C>T	CCDS6124.1																																																																																				0.527	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		43	178	0	0	0	0.00874	0	43	178				
POTEA	340441	broad.mit.edu	37	8	43197344	43197344	+	RNA	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:43197344A>G	ENST00000522175.2	+	0	1097							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGCCAAATACATTCAGTGG	0.323																																							uc003xpz.1		NA																	0				ovary(1)	1						c.(1231-1233)ATA>ATG		POTE ankyrin domain family, member A isoform 2							113.0	108.0	110.0					8																	43197344		1837	4082	5919			340441							g.chr8:43197344A>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197344A>G						POTEA_uc003xqa.1_Missense_Mutation_p.I365M	p.I411M	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1276	+			411					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1233A>G																																																																																					0.323	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		62	51	0	0	0	0.00361	0	62	51				
PRKDC	5591	broad.mit.edu	37	8	48866220	48866220	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:48866220C>A	ENST00000314191.2	-	7	737	c.681G>T	c.(679-681)ttG>ttT	p.L227F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L227F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	227					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAAGTGAGGACAACCCCTTCA	0.393								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(679-681)TTG>TTT	NHEJ	protein kinase, DNA-activated, catalytic							79.0	75.0	76.0					8																	48866220		1906	4136	6042	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48866220C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.681G>T	8.37:g.48866220C>A	ENSP00000313420:p.Leu227Phe					PRKDC_uc003xqj.2_Missense_Mutation_p.L227F|PRKDC_uc011ldh.1_Missense_Mutation_p.L227F	p.L227F	NM_006904	NP_008835	P78527	PRKDC_HUMAN			7	738	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	227					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.681G>T		.	.	.	.	.	.	.	.	.	.	C	17.62	3.435467	0.62955	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.75260	-0.83;-0.92	5.54	2.73	0.32206	Armadillo-type fold (1);	0.087086	0.45867	D	0.000321	T	0.80899	0.4712	.	.	.	0.41181	D	0.986238	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.61533	0.89;0.779;0.779	T	0.78833	-0.2048	9	0.72032	D	0.01	.	6.7226	0.23338	0.0:0.6627:0.1272:0.2102	.	227;227;227	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	F	227	ENSP00000313420:L227F;ENSP00000345182:L227F	ENSP00000313420:L227F	L	-	3	2	PRKDC	49028773	0.606000	0.26949	0.010000	0.14722	0.894000	0.52154	0.455000	0.21843	0.279000	0.22186	0.655000	0.94253	TTG		0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		24	47	1	0	4.59853e-10	0.005443	5.21592e-10	24	47				
RP1	6101	broad.mit.edu	37	8	55539407	55539407	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:55539407G>A	ENST00000220676.1	+	4	3113	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	989					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCTATGTAAAGAGGGAGATAA	0.368																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(2965-2967)GAG>AAG		retinitis pigmentosa RP1 protein							142.0	153.0	149.0					8																	55539407		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539407G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2965G>A	8.37:g.55539407G>A	ENSP00000220676:p.Glu989Lys					RP1_uc011ldy.1_Intron	p.E989K	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3113	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	989						Missense_Mutation	SNP	ENST00000220676.1	37	c.2965G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	g	0.039	-1.292764	0.01375	.	.	ENSG00000104237	ENST00000220676	T	0.50813	0.73	4.86	1.15	0.20763	.	1.111380	0.06769	N	0.783180	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.19257	-1.0311	10	0.33141	T	0.24	.	1.0094	0.01494	0.3728:0.1491:0.325:0.1532	.	989	P56715	RP1_HUMAN	K	989	ENSP00000220676:E989K	ENSP00000220676:E989K	E	+	1	0	RP1	55701960	0.008000	0.16893	0.000000	0.03702	0.046000	0.14306	1.099000	0.31013	0.029000	0.15352	-0.121000	0.15023	GAG		0.368	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		52	120	0	0	0	0.00361	0	52	120				
CHD7	55636	broad.mit.edu	37	8	61748754	61748754	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:61748754A>G	ENST00000423902.2	+	16	4380	c.3901A>G	c.(3901-3903)Aaa>Gaa	p.K1301E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1301	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGCTGCCAAAACTGAAGGC	0.502																																							uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3901-3903)AAA>GAA		chromodomain helicase DNA binding protein 7							62.0	62.0	62.0					8																	61748754		2017	4191	6208	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61748754A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3901A>G	8.37:g.61748754A>G	ENSP00000392028:p.Lys1301Glu						p.K1301E	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		16	4378	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1301			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3901A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	33	5.232180	0.95207	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75477	-0.94	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	L	0.38649	1.16	0.80722	D	1	D	0.63046	0.992	D	0.64506	0.926	T	0.82376	-0.0488	10	0.87932	D	0	-24.8623	16.1549	0.81657	1.0:0.0:0.0:0.0	.	1301	Q9P2D1	CHD7_HUMAN	E	1301	ENSP00000392028:K1301E	ENSP00000307304:K1301E	K	+	1	0	CHD7	61911308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.975000	0.70475	2.209000	0.71365	0.533000	0.62120	AAA		0.502	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		28	21	0	0	0	0.00632	0	28	21				
SLCO5A1	81796	broad.mit.edu	37	8	70744678	70744678	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:70744678G>T	ENST00000260126.4	-	2	937	c.231C>A	c.(229-231)aaC>aaA	p.N77K	RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.N77K|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N77K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGCCAACGGGTTCGGGCCTT	0.652											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(229-231)AAC>AAA		solute carrier organic anion transporter family,							43.0	45.0	44.0					8																	70744678		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744678G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.231C>A	8.37:g.70744678G>T	ENSP00000260126:p.Asn77Lys		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Missense_Mutation_p.N77K|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.N77K|SLCO5A1_uc010lzc.2_Missense_Mutation_p.N77K	p.N77K	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	938	-	Breast(64;0.0654)		77			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.231C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	1.963	-0.438436	0.04636	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40225	1.18;1.54;1.04	5.61	1.99	0.26369	.	2.070070	0.01971	N	0.044099	T	0.29256	0.0728	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17038	0.012;0.02;0.012;0.02	B;B;B;B	0.18871	0.01;0.006;0.006;0.023	T	0.16630	-1.0396	10	0.13853	T	0.58	.	7.4598	0.27287	0.3702:0.0:0.6298:0.0	.	77;77;77;77	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	K	77	ENSP00000260126:N77K;ENSP00000434422:N77K;ENSP00000431611:N77K	ENSP00000260126:N77K	N	-	3	2	SLCO5A1	70907232	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.746000	0.26275	0.554000	0.29061	0.484000	0.47621	AAC		0.652	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		44	26	1	0	2.95478e-19	0.00874	3.72196e-19	44	26				
DCAF4L2	138009	broad.mit.edu	37	8	88885206	88885206	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:88885206C>A	ENST00000319675.3	-	1	1090	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	332								p.V332M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCTGGCCCACGGCCGCCACG	0.567																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(994-996)GTG>TTG		WD repeat domain 21C							76.0	81.0	79.0					8																	88885206		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885206C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.994G>T	8.37:g.88885206C>A	ENSP00000316496:p.Val332Leu						p.V332L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1091	-			332			WD 2.			Missense_Mutation	SNP	ENST00000319675.3	37	c.994G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652100	0.88056	.	.	ENSG00000176566	ENST00000319675	T	0.56941	0.43	1.49	1.49	0.22878	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.76838	2.35	0.40066	D	0.975953	D	0.76494	0.999	D	0.83275	0.996	T	0.67669	-0.5611	10	0.49607	T	0.09	.	8.5134	0.33231	0.0:1.0:0.0:0.0	.	332	Q8NA75	DC4L2_HUMAN	L	332	ENSP00000316496:V332L	ENSP00000316496:V332L	V	-	1	0	DCAF4L2	88954322	1.000000	0.71417	0.494000	0.27515	0.718000	0.41266	4.894000	0.63206	0.809000	0.34255	0.467000	0.42956	GTG		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		37	58	1	0	1.07637e-12	0.004878	1.25876e-12	37	58				
ZFPM2	23414	broad.mit.edu	37	8	106813683	106813683	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:106813683C>T	ENST00000407775.2	+	8	1623	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P326L|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P189L|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P326L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	458					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGATACAGCCTACAACAAAT	0.448																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1372-1374)CCT>CTT		zinc finger protein, multitype 2							68.0	73.0	72.0					8																	106813683		1865	4099	5964	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813683C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1373C>T	8.37:g.106813683C>T	ENSP00000384179:p.Pro458Leu					ZFPM2_uc011lhs.1_Missense_Mutation_p.P189L	p.P458L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1396	+			458					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1373C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350619	0.41599	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.6;2.6;3.81	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.39898	1.24	0.80722	D	1	P	0.46706	0.883	B	0.44224	0.444	T	0.00282	-1.1850	10	0.41790	T	0.15	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	458	Q8WW38	FOG2_HUMAN	L	458;326;326;189	ENSP00000384179:P458L;ENSP00000430757:P326L;ENSP00000428720:P326L;ENSP00000367733:P189L	ENSP00000367733:P189L	P	+	2	0	ZFPM2	106882859	0.997000	0.39634	0.620000	0.29132	0.981000	0.71138	3.988000	0.56951	2.836000	0.97738	0.655000	0.94253	CCT		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			34	91	0	0	0	0.012213	0	34	91				
CSMD3	114788	broad.mit.edu	37	8	113293532	113293532	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:113293532G>T	ENST00000297405.5	-	59	9623	c.9379C>A	c.(9379-9381)Cga>Aga	p.R3127R	CSMD3_ENST00000352409.3_Silent_p.R3057R|CSMD3_ENST00000343508.3_Silent_p.R3087R|CSMD3_ENST00000455883.2_Silent_p.R2958R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATCAATTCGGAAGACTTTC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9379-9381)CGA>AGA		CUB and Sushi multiple domains 3 isoform 1							112.0	96.0	102.0					8																	113293532		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113293532G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9379C>A	8.37:g.113293532G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R2329R|CSMD3_uc003ynt.2_Silent_p.R3087R|CSMD3_uc011lhx.1_Silent_p.R2958R	p.R3127R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9538	-			3127			Extracellular (Potential).|Sushi 23.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9379C>A	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		48	71	1	0	5.13769e-22	0.00361	6.73119e-22	48	71				
COL14A1	7373	broad.mit.edu	37	8	121209086	121209086	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:121209086G>T	ENST00000297848.3	+	6	763	c.493G>T	c.(493-495)Ggt>Tgt	p.G165C	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G165C|COL14A1_ENST00000537875.1_Missense_Mutation_p.G165C|COL14A1_ENST00000309791.4_Missense_Mutation_p.G165C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCTGGTCGATGGTTCATGGAG	0.443																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(493-495)GGT>TGT		collagen, type XIV, alpha 1 precursor							199.0	187.0	191.0					8																	121209086		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121209086G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.493G>T	8.37:g.121209086G>T	ENSP00000297848:p.Gly165Cys					COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR	p.G165C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		6	758	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		165			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.493G>T	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.808038|4.808038	0.90707|0.90707	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781|ENST00000523142	D;D;D;D|.	0.85088|.	-1.94;-1.94;-1.94;-1.94|.	5.43|5.43	5.43|5.43	0.79202|0.79202	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91586|0.91586	0.7342|0.7342	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94645|0.94645	0.7834|0.7834	10|5	0.39692|.	T|.	0.17|.	.|.	19.4372|19.4372	0.94801|0.94801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165|.	Q05707|.	COEA1_HUMAN|.	C|L	165|16	ENSP00000443974:G165C;ENSP00000311809:G165C;ENSP00000297848:G165C;ENSP00000247781:G165C|.	ENSP00000247781:G165C|.	G|W	+|+	1|2	0|0	COL14A1|COL14A1	121278267|121278267	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.952000|0.952000	0.60782|0.60782	9.657000|9.657000	0.98554|0.98554	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		60	232	1	0	1.13205e-32	0.00361	1.60319e-32	60	232				
DERL1	79139	broad.mit.edu	37	8	124034969	124034969	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:124034969C>T	ENST00000259512.4	-	5	708	c.408G>A	c.(406-408)ctG>ctA	p.L136L	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000523036.1_Silent_p.L36L|DERL1_ENST00000405944.3_Silent_p.L136L|DERL1_ENST00000519018.1_Silent_p.L36L	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	136					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTCTCTGTTCAGCTGGGCCC	0.413											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ypl.2		NA																	0					0						c.(406-408)CTG>CTA		Der1-like domain family, member 1 isoform a							199.0	176.0	183.0					8																	124034969		2203	4300	6503	SO:0001819	synonymous_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124034969C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.408G>A	8.37:g.124034969C>T			OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DERL1_uc003ypm.2_Silent_p.L136L|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.L136L	p.L136L	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	694	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		136			Lumenal (Potential).		B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	c.408G>A	CCDS6337.1																																																																																				0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		8	308	0	0	0	0.004482	0	8	308				
MYC	4609	broad.mit.edu	37	8	128750661	128750661	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:128750661G>T	ENST00000259523.6	+	2	1358	c.153G>T	c.(151-153)aaG>aaT	p.K51N	MYC_ENST00000377970.2_Missense_Mutation_p.K66N|MYC_ENST00000524013.1_Missense_Mutation_p.K65N			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	51					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.K51K(1)|p.K66K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ATATCTGGAAGAAATTCGAGC	0.657		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ysh.1		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(151-153)AAG>AAT		myc proto-oncogene protein							23.0	27.0	25.0					8																	128750661		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750661G>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.153G>T	8.37:g.128750661G>T	ENSP00000259523:p.Lys51Asn		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysi.2_Missense_Mutation_p.K66N	p.K51N	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	666	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	51					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.153G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.69|13.69	2.311653|2.311653	0.40895|0.40895	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617|ENST00000520751	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	4.78|4.78	3.9|3.9	0.45041|0.45041	Transcription regulator Myc, N-terminal (1);|.	0.096881|.	0.64402|.	D|.	0.000001|.	T|T	0.77061|0.77061	0.4075|0.4075	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.67231|.	0.95|.	T|T	0.81215|0.81215	-0.1034|-0.1034	10|6	0.87932|0.87932	D|D	0|0	-37.8216|-37.8216	12.5153|12.5153	0.56028|0.56028	0.0809:0.0:0.9191:0.0|0.0809:0.0:0.9191:0.0	.|.	51|.	P01106|.	MYC_HUMAN|.	N|I	51;65;66;65;32|40	ENSP00000259523:K51N;ENSP00000429441:K65N;ENSP00000367207:K66N;ENSP00000430235:K65N|.	ENSP00000259523:K51N|ENSP00000430226:R40I	K|R	+|+	3|2	2|0	MYC|MYC	128819843|128819843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.590000|4.590000	0.61013|0.61013	1.386000|1.386000	0.46466|0.46466	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA		0.657	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			44	71	1	0	2.2871e-25	0.007835	3.08726e-25	44	71				
TMEM71	137835	broad.mit.edu	37	8	133740123	133740123	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:133740123T>C	ENST00000356838.3	-	6	682	c.540A>G	c.(538-540)ggA>ggG	p.G180G	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Silent_p.G199G	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	199						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGGAGTTTCCTCCAGGAGGCT	0.463																																							uc003ytp.2		NA																	0				ovary(2)	2						c.(592-594)GGA>GGG		transmembrane protein 71 isoform 1							136.0	131.0	132.0					8																	133740123		2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133740123T>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.540A>G	8.37:g.133740123T>C						TMEM71_uc003ytm.1_Silent_p.G20G|TMEM71_uc003ytn.2_Silent_p.G180G|TMEM71_uc003yto.2_Intron	p.G198G	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		6	823	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		199					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	c.594A>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	T	4.937	0.174010	0.09391	.	.	ENSG00000165071	ENST00000522780	.	.	.	6.02	-0.638	0.11500	.	.	.	.	.	T	0.33294	0.0858	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33343	-0.9872	4	.	.	.	0.3427	9.4765	0.38875	0.0:0.4225:0.0:0.5775	.	.	.	.	G	37	.	.	E	-	2	0	TMEM71	133809305	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.351000	0.07711	-0.057000	0.13199	-0.408000	0.06270	GAG		0.463	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		38	271	0	0	0	0.00623	0	38	271				
CYP11B2	1585	broad.mit.edu	37	8	143996289	143996289	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:143996289G>T	ENST00000323110.2	-	4	633	c.631C>A	c.(631-633)Ctg>Atg	p.L211M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	211					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGGCCAACCAGGCCCAGCCGC	0.617									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	0					0						c.(631-633)CTG>ATG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						26.0	30.0	29.0					8																	143996289		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996289G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.631C>A	8.37:g.143996289G>T	ENSP00000325822:p.Leu211Met						p.L211M	NM_000498	NP_000489	P19099	C11B2_HUMAN			4	634	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		211					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.631C>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.381812	0.42207	.	.	ENSG00000179142	ENST00000323110	T	0.68903	-0.36	3.89	2.9	0.33743	.	0.000000	0.43747	D	0.000540	T	0.71676	0.3368	L	0.53671	1.685	0.38453	D	0.947024	D	0.60575	0.988	D	0.63192	0.912	T	0.73588	-0.3935	10	0.51188	T	0.08	.	8.2471	0.31695	0.1331:0.0:0.8669:0.0	.	211	P19099	C11B2_HUMAN	M	211	ENSP00000325822:L211M	ENSP00000325822:L211M	L	-	1	2	CYP11B2	143993291	1.000000	0.71417	0.967000	0.41034	0.371000	0.29859	3.126000	0.50477	2.004000	0.58718	0.561000	0.74099	CTG		0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			45	72	1	0	1.62263e-30	0.00361	2.2652e-30	45	72				
CYP11B2	1585	broad.mit.edu	37	8	143996511	143996511	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:143996511C>T	ENST00000323110.2	-	3	548	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	182					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGGTCAGGCTCCCCCGGGCGT	0.647									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	0					0						c.(544-546)GGG>GGA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						48.0	45.0	46.0					8																	143996511		2203	4296	6499	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996511C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.546G>A	8.37:g.143996511C>T							p.G182G	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	549	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		182					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.546G>A	CCDS6393.1																																																																																				0.647	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			5	69	0	0	0	0.00245	0	5	69				
EPPK1	83481	broad.mit.edu	37	8	144940824	144940824	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:144940824G>T	ENST00000525985.1	-	2	6669	c.6598C>A	c.(6598-6600)Ctg>Atg	p.L2200M				P58107	EPIPL_HUMAN	epiplakin 1	2200						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGTTTCCAGGTCCTGGAGC	0.587																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6598-6600)CTG>ATG		epiplakin 1							197.0	206.0	203.0					8																	144940824		2036	4185	6221	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940824G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6598C>A	8.37:g.144940824G>T	ENSP00000436337:p.Leu2200Met						p.L2200M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6611	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2200					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6598C>A		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448753	0.43531	.	.	ENSG00000227184	ENST00000525985	T	0.72505	-0.66	4.66	0.769	0.18492	.	.	.	.	.	T	0.80929	0.4718	M	0.83774	2.66	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.66176	-0.5989	9	0.44086	T	0.13	.	5.4434	0.16521	0.2396:0.0:0.6189:0.1414	.	2200	E9PPU0	.	M	2200	ENSP00000436337:L2200M	ENSP00000436337:L2200M	L	-	1	2	EPPK1	145012812	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.016000	0.13377	0.207000	0.20607	-0.982000	0.02568	CTG		0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		44	506	1	0	9.39024e-22	0.009718	1.22373e-21	44	506				
PLEC	5339	broad.mit.edu	37	8	144992484	144992484	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:144992484G>A	ENST00000322810.4	-	32	12085	c.11916C>T	c.(11914-11916)gaC>gaT	p.D3972D	PLEC_ENST00000357649.2_Silent_p.D3839D|PLEC_ENST00000354589.3_Silent_p.D3835D|PLEC_ENST00000436759.2_Silent_p.D3862D|PLEC_ENST00000354958.2_Silent_p.D3813D|PLEC_ENST00000527096.1_Silent_p.D3858D|PLEC_ENST00000398774.2_Silent_p.D3803D|PLEC_ENST00000356346.3_Silent_p.D3821D|PLEC_ENST00000345136.3_Silent_p.D3835D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3972	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGACAGCTGGTCGTGCGTGT	0.687																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11914-11916)GAC>GAT		plectin isoform 1							17.0	24.0	22.0					8																	144992484		2061	4188	6249	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992484G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11916C>T	8.37:g.144992484G>A						PLEC_uc003zab.1_Silent_p.D3835D|PLEC_uc003zac.1_Silent_p.D3839D|PLEC_uc003zad.2_Silent_p.D3835D|PLEC_uc003zae.1_Silent_p.D3803D|PLEC_uc003zag.1_Silent_p.D3813D|PLEC_uc003zah.2_Silent_p.D3821D|PLEC_uc003zaj.2_Silent_p.D3862D	p.D3972D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12086	-			3972			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11916C>T	CCDS43772.1																																																																																				0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	39	0	0	0	0.000602	0	4	39				
MAF1	84232	broad.mit.edu	37	8	145161115	145161115	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:145161115G>C	ENST00000322428.5	+	4	753	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.E117Q|MAF1_ENST00000534585.1_Missense_Mutation_p.E117Q	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	117					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCAGCCATGAGTTCAGCCG	0.612																																							uc003zbc.1		NA																	0					0						c.(349-351)GAG>CAG		MAF1 protein							61.0	60.0	60.0					8																	145161115		2203	4300	6503	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145161115G>C		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.349G>C	8.37:g.145161115G>C	ENSP00000318604:p.Glu117Gln					SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	p.E117Q	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	850	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		117					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.349G>C	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160985	0.78226	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527058	T;T;T	0.45668	0.89;0.9;0.89	5.5	5.5	0.81552	.	0.059826	0.64402	D	0.000003	T	0.54791	0.1880	L	0.52905	1.665	0.58432	D	0.999996	D	0.61697	0.99	P	0.60886	0.88	T	0.46048	-0.9219	10	0.28530	T	0.3	-25.2344	14.8854	0.70564	0.0:0.0:1.0:0.0	.	117	Q9H063	MAF1_HUMAN	Q	117	ENSP00000318604:E117Q;ENSP00000433979:E117Q;ENSP00000436720:E117Q	ENSP00000318604:E117Q	E	+	1	0	MAF1	145233103	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.479000	0.90431	2.597000	0.87782	0.655000	0.94253	GAG		0.612	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		13	155	0	0	0	0.001368	0	13	155				
TONSL	4796	broad.mit.edu	37	8	145661726	145661726	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:145661726G>C	ENST00000409379.3	-	17	2119	c.2090C>G	c.(2089-2091)cCc>cGc	p.P697R	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	697					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TTCTGGGCAGGGGCTCAAAGG	0.627																																							uc011llg.1		NA																	0					0						c.(2089-2091)CCC>CGC		NF-kappa-B inhibitor-like protein 2							42.0	52.0	49.0					8																	145661726		2175	4253	6428	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661726G>C		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2090C>G	8.37:g.145661726G>C	ENSP00000386239:p.Pro697Arg					uc011llh.1_Intron	p.P697R	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2105	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		697					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2090C>G	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	1.216	-0.628395	0.03610	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.46451	0.87	4.2	4.2	0.49525	.	0.247249	0.33959	N	0.004384	T	0.28333	0.0700	L	0.36672	1.1	0.36689	D	0.879471	P	0.37330	0.59	B	0.33196	0.159	T	0.20672	-1.0268	10	0.13470	T	0.59	-29.3938	11.9134	0.52751	0.0:0.0:1.0:0.0	.	697	Q96HA7	TONSL_HUMAN	R	697;696	ENSP00000386239:P697R	ENSP00000386239:P697R	P	-	2	0	TONSL	145632534	0.761000	0.28439	0.550000	0.28217	0.047000	0.14425	0.805000	0.27112	2.161000	0.67846	0.462000	0.41574	CCC		0.627	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		49	205	0	0	0	0.00361	0	49	205				
VLDLR	7436	broad.mit.edu	37	9	2646540	2646540	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:2646540A>G	ENST00000382100.3	+	11	2047	c.1691A>G	c.(1690-1692)gAc>gGc	p.D564G	VLDLR_ENST00000382099.2_Missense_Mutation_p.D564G|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	564					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATAGCTGTGGACCCACTGTCT	0.458																																							uc003zhk.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1690-1692)GAC>GGC		very low density lipoprotein receptor isoform a							65.0	63.0	64.0					9																	2646540		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2646540A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1691A>G	9.37:g.2646540A>G	ENSP00000371532:p.Asp564Gly					VLDLR_uc003zhl.1_Missense_Mutation_p.D564G|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.D523G	p.D564G	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	11	2088	+			564			LDL-receptor class B 3.|Extracellular (Potential).		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1691A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966791	0.74131	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.98889	-5.21;-5.21	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.53938	D	0.000050	D	0.99345	0.9770	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98810	1.0743	10	0.72032	D	0.01	.	15.8399	0.78837	1.0:0.0:0.0:0.0	.	564;564;564	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	564;564;443	ENSP00000371532:D564G;ENSP00000371531:D564G	ENSP00000371524:D443G	D	+	2	0	VLDLR	2636540	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	9.287000	0.95975	2.210000	0.71456	0.459000	0.35465	GAC		0.458	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		14	41	0	0	0	0.00245	0	14	41				
PTPRD	5789	broad.mit.edu	37	9	8376003	8376003	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:8376003G>C	ENST00000381196.4	-	36	5137	c.4594C>G	c.(4594-4596)Cta>Gta	p.L1532V	PTPRD_ENST00000356435.5_Missense_Mutation_p.L1532V|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1510V|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1125V|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1125V|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1126V|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1532V|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1519V|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1122V|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1125V|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1122V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1532	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGAAAGCTAGAAAAGGTGTA	0.473										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4594-4596)CTA>GTA		protein tyrosine phosphatase, receptor type, D							125.0	110.0	115.0					9																	8376003		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8376003G>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4594C>G	9.37:g.8376003G>C	ENSP00000370593:p.Leu1532Val	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.L1126V|PTPRD_uc003zkq.2_Missense_Mutation_p.L1125V|PTPRD_uc003zkr.2_Missense_Mutation_p.L1116V|PTPRD_uc003zks.2_Missense_Mutation_p.L1125V|PTPRD_uc003zkl.2_Missense_Mutation_p.L1523V|PTPRD_uc003zkm.2_Missense_Mutation_p.L1519V|PTPRD_uc003zkn.2_Missense_Mutation_p.L1121V|PTPRD_uc003zko.2_Missense_Mutation_p.L1122V	p.L1532V	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	38	5305	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1532			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4594C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728587	0.48833	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.71	4.81	0.61882	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	M	0.86651	2.83	0.80722	D	1	P;D;D;D;D;D;D;D;D	0.76494	0.777;0.962;0.962;0.962;0.999;0.96;0.999;0.987;0.999	B;D;D;D;D;P;D;P;D	0.72982	0.29;0.963;0.963;0.963;0.974;0.569;0.953;0.875;0.979	D	0.92641	0.6124	9	.	.	.	.	11.2949	0.49272	0.1578:0.0:0.8422:0.0	.	1125;1116;1125;1126;1122;1122;1519;1532;1532	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	1532;1532;1519;1510;1126;1125;1122;1122;1003;1532;1125;1125	ENSP00000370593:L1532V;ENSP00000348812:L1532V;ENSP00000353187:L1519V;ENSP00000351293:L1510V;ENSP00000347373:L1126V;ENSP00000380741:L1125V;ENSP00000380735:L1122V;ENSP00000440515:L1122V;ENSP00000438164:L1532V;ENSP00000417093:L1125V;ENSP00000380731:L1125V	.	L	-	1	2	PTPRD	8366003	1.000000	0.71417	0.936000	0.37596	0.994000	0.84299	5.657000	0.67996	1.418000	0.47098	0.585000	0.79938	CTA		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	119	0	0	0	0.009096	0	4	119				
PTPRD	5789	broad.mit.edu	37	9	8633370	8633370	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:8633370G>T	ENST00000381196.4	-	11	842	c.299C>A	c.(298-300)gCc>gAc	p.A100D	PTPRD_ENST00000356435.5_Missense_Mutation_p.A100D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100D|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTATTTGAGGCCACACATTC	0.433										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(298-300)GCC>GAC		protein tyrosine phosphatase, receptor type, D							189.0	154.0	166.0					9																	8633370		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633370G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.299C>A	9.37:g.8633370G>T	ENSP00000370593:p.Ala100Asp	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.A100D|PTPRD_uc003zkq.2_Missense_Mutation_p.A100D|PTPRD_uc003zkr.2_Missense_Mutation_p.A100D|PTPRD_uc003zks.2_Missense_Mutation_p.A100D|PTPRD_uc003zkl.2_Missense_Mutation_p.A100D|PTPRD_uc003zkm.2_Missense_Mutation_p.A100D|PTPRD_uc003zkn.2_Missense_Mutation_p.A100D|PTPRD_uc003zko.2_Missense_Mutation_p.A100D|PTPRD_uc003zkt.1_Missense_Mutation_p.A100D	p.A100D	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	13	1010	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	100			Ig-like C2-type 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.299C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592828	0.96602	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.98218	4.175	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.999;0.999;0.999;0.996;0.999;0.994;0.994;1.0	D	0.94873	0.8032	9	.	.	.	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	100;100;100;100;100;100;100;100;100;100	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	100	ENSP00000370593:A100D;ENSP00000348812:A100D;ENSP00000353187:A100D;ENSP00000351293:A100D;ENSP00000347373:A100D;ENSP00000380741:A100D;ENSP00000380735:A100D;ENSP00000440515:A100D;ENSP00000438164:A100D;ENSP00000417093:A100D;ENSP00000380731:A100D;ENSP00000417661:A100D	.	A	-	2	0	PTPRD	8623370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.805000	0.99149	2.871000	0.98454	0.637000	0.83480	GCC		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			108	44	1	0	4.44732e-65	0.00361	6.94009e-65	108	44				
BNC2	54796	broad.mit.edu	37	9	16419222	16419222	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:16419222G>T	ENST00000380672.4	-	7	3122	c.3065C>A	c.(3064-3066)tCt>tAt	p.S1022Y	BNC2_ENST00000380667.2_Missense_Mutation_p.S955Y|BNC2_ENST00000545497.1_Missense_Mutation_p.S927Y	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAACATAAGAGATCCTGAAAC	0.552																																							uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3064-3066)TCT>TAT		basonuclin 2							81.0	72.0	75.0					9																	16419222		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419222G>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.3065C>A	9.37:g.16419222G>T	ENSP00000370047:p.Ser1022Tyr					BNC2_uc011lmw.1_Missense_Mutation_p.S927Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S809Y	p.S1022Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3205	-			1022						Missense_Mutation	SNP	ENST00000380672.4	37	c.3065C>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378247	0.24944	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.34072	1.38;1.39;1.39	6.08	6.08	0.98989	.	0.121832	0.56097	D	0.000022	T	0.34861	0.0912	L	0.47716	1.5	0.80722	D	1	B;B;P	0.36616	0.009;0.018;0.561	B;B;B	0.28139	0.031;0.018;0.086	T	0.17319	-1.0373	10	0.66056	D	0.02	-7.0666	20.6721	0.99693	0.0:0.0:1.0:0.0	.	927;1022;787	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	Y	1022;955;927	ENSP00000370047:S1022Y;ENSP00000370042:S955Y;ENSP00000444640:S927Y	ENSP00000370042:S955Y	S	-	2	0	BNC2	16409222	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	3.046000	0.49846	2.894000	0.99253	0.591000	0.81541	TCT		0.552	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		69	39	1	0	1.49552e-23	0.00361	1.99132e-23	69	39				
UBAP2	55833	broad.mit.edu	37	9	33988994	33988994	+	Missense_Mutation	SNP	C	C	T	rs112150520	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:33988994C>T	ENST00000379238.1	-	5	536	c.419G>A	c.(418-420)aGa>aAa	p.R140K	UBAP2_ENST00000360802.1_Missense_Mutation_p.R140K|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.R140K|UBAP2_ENST00000449054.1_Missense_Mutation_p.R140K					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTGCCGCCTCTTCCTTTCCG	0.428																																							uc003ztq.1		NA																	0				ovary(3)	3						c.(418-420)AGA>AAA		ubiquitin associated protein 2							253.0	237.0	243.0					9																	33988994		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33988994C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.419G>A	9.37:g.33988994C>T	ENSP00000368540:p.Arg140Lys					UBAP2_uc011loc.1_Missense_Mutation_p.R102K|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R65K|UBAP2_uc011log.1_Missense_Mutation_p.R139K|UBAP2_uc003ztr.2_Missense_Mutation_p.R65K	p.R140K	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	532	-			140						Missense_Mutation	SNP	ENST00000379238.1	37	c.419G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748642	0.69533	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.17	5.17	0.71159	.	0.092406	0.64402	D	0.000001	T	0.57519	0.2059	M	0.75447	2.3	0.58432	D	0.999991	P;D;P;D;P	0.69078	0.938;0.997;0.734;0.995;0.874	P;D;B;D;P	0.77557	0.776;0.99;0.391;0.978;0.621	T	0.58885	-0.7557	10	0.48119	T	0.1	-17.2295	18.7038	0.91630	0.0:1.0:0.0:0.0	.	140;65;102;65;140	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	K	140;140;140;102;80;140;140;16	ENSP00000368540:R140K;ENSP00000416932:R140K;ENSP00000354039:R140K;ENSP00000404436:R140K;ENSP00000414800:R140K	ENSP00000354039:R140K	R	-	2	0	UBAP2	33978994	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	2.640000	0.46579	2.402000	0.81655	0.650000	0.86243	AGA		0.428	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		61	217	0	0	0	0.00361	0	61	217				
TLN1	7094	broad.mit.edu	37	9	35707125	35707125	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:35707125C>A	ENST00000314888.9	-	37	5252	c.4899G>T	c.(4897-4899)ctG>ctT	p.L1633L	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.L1633L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1633	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGGCCGGCCAGCACCGACC	0.592																																							uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4897-4899)CTG>CTT		talin 1							82.0	88.0	86.0					9																	35707125		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707125C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4899G>T	9.37:g.35707125C>A							p.L1633L	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		37	5253	-	all_epithelial(49;0.167)		1633			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.4899G>T	CCDS35009.1																																																																																				0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		157	56	1	0	3.42498e-63	0.00361	5.32775e-63	157	56				
MSMP	692094	broad.mit.edu	37	9	35753749	35753749	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:35753749C>T	ENST00000436428.2	-	2	286	c.147G>A	c.(145-147)gaG>gaA	p.E49E	RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	49						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AATATTTCCCCTCATAGTGAC	0.537																																							uc003zyb.1		NA																	0					0						c.(145-147)GAG>GAA		PC3-secreted microprotein precursor							36.0	37.0	37.0					9																	35753749		2013	4185	6198	SO:0001819	synonymous_variant	692094					extracellular region		g.chr9:35753749C>T	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.147G>A	9.37:g.35753749C>T							p.E49E	NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN			2	293	-			49						Silent	SNP	ENST00000436428.2	37	c.147G>A	CCDS43797.1																																																																																				0.537	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		33	15	0	0	0	0.012213	0	33	15				
SPATA31A6	389730	broad.mit.edu	37	9	43628679	43628679	+	Missense_Mutation	SNP	G	G	C	rs2491538	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:43628679G>C	ENST00000332857.6	-	3	291	c.263C>G	c.(262-264)cCg>cGg	p.P88R	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	88					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGCCTCTCGGGCACTCTCT	0.582																																							uc011lrb.1		NA																	0					0						c.(262-264)CCG>CGG		hypothetical protein LOC389730																																				SO:0001583	missense	389730					integral to membrane		g.chr9:43628679G>C		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.263C>G	9.37:g.43628679G>C	ENSP00000329825:p.Pro88Arg						p.P88R	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			3	292	-			88						Missense_Mutation	SNP	ENST00000332857.6	37	c.263C>G	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.714	-0.786004	0.02907	.	.	ENSG00000185775	ENST00000332857	T	0.03301	3.98	2.08	-2.63	0.06133	.	0.630203	0.12182	N	0.492007	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.36186	0.219	T	0.37033	-0.9723	10	0.07325	T	0.83	.	0.1644	0.00107	0.3583:0.2399:0.1662:0.2356	rs2491538;rs4509387	88	Q5VVP1	F75A6_HUMAN	R	88	ENSP00000329825:P88R	ENSP00000329825:P88R	P	-	2	0	FAM75A6	43568675	0.003000	0.15002	0.015000	0.15790	0.012000	0.07955	-0.050000	0.11904	-0.592000	0.05851	-0.751000	0.03497	CCG		0.582	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	250	0	0	0	0.00308	0	6	250				
PRUNE2	158471	broad.mit.edu	37	9	79325435	79325435	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:79325435C>G	ENST00000376718.3	-	8	1878	c.1755G>C	c.(1753-1755)ttG>ttC	p.L585F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L226F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	585					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTCAGGCTCAAATTTCTTT	0.438																																							uc010mpk.2		NA																	0					0						c.(1753-1755)TTG>TTC		prune homolog 2							61.0	55.0	57.0					9																	79325435		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325435C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1755G>C	9.37:g.79325435C>G	ENSP00000365908:p.Leu585Phe						p.L585F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	1879	-			585					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1755G>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067398	0.36470	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.50277	0.75;0.75	5.71	-2.18	0.07037	.	0.739872	0.11643	N	0.543640	T	0.48484	0.1502	M	0.65975	2.015	0.21697	N	0.999588	P	0.50272	0.933	P	0.49665	0.618	T	0.45411	-0.9263	10	0.62326	D	0.03	-0.0192	6.2282	0.20720	0.0:0.221:0.3553:0.4237	.	585	Q8WUY3	PRUN2_HUMAN	F	585;226;584	ENSP00000365908:L585F;ENSP00000397425:L226F	ENSP00000365908:L585F	L	-	3	2	PRUNE2	78515255	0.750000	0.28316	0.713000	0.30519	0.708000	0.40852	0.002000	0.13061	-0.090000	0.12462	-0.753000	0.03488	TTG		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	28	0	0	0	0.00361	0	66	28				
SPATA31B1P	404770	broad.mit.edu	37	9	84676980	84676980	+	IGR	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:84676980C>A								SPATA31D1 (66809 upstream) : RP11-15B24.5 (210690 downstream)														p.D8H(1)									AACGCCCAGTCCCTGGCCCAC	0.627																																							uc010mpu.1		NA																	1	Substitution - Missense(1)		NS(1)		NA						c.(22-24)GAC>TAC		hypothetical protein LOC404770							24.0	27.0	26.0					9																	84676980		1078	2151	3229	SO:0001628	intergenic_variant	0							g.chr9:84676980C>A																													9.37:g.84676980C>A							p.D8Y	NM_001164339	NP_001157811					1	25	-									Missense_Mutation	SNP		37	c.22G>T		.	.	.	.	.	.	.	.	.	.	C	10.69	1.420507	0.25639	.	.	ENSG00000204561	ENST00000376458	.	.	.	1.17	-2.33	0.06724	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	D	0.53462	0.96	B	0.34452	0.183	T	0.15178	-1.0446	6	0.87932	D	0	.	1.7461	0.02962	0.3003:0.3922:0.0:0.3075	.	8	Q5VZV4	FA75B_HUMAN	Y	8	.	ENSP00000365641:D8Y	D	-	1	0	FAM75B	83866800	0.006000	0.16342	0.001000	0.08648	0.161000	0.22273	-0.534000	0.06150	-0.725000	0.04901	0.134000	0.15878	GAC	0	0.627									36	19	1	0	6.97489e-18	0.004878	8.7075e-18	36	19				
ROR2	4920	broad.mit.edu	37	9	94499775	94499775	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:94499775A>T	ENST00000375708.3	-	5	718	c.520T>A	c.(520-522)Tgc>Agc	p.C174S	ROR2_ENST00000375715.1_Missense_Mutation_p.C34S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	174	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TAAGGCTGGCAGAACCCATCC	0.512																																							uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(520-522)TGC>AGC		receptor tyrosine kinase-like orphan receptor 2							109.0	95.0	100.0					9																	94499775		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94499775A>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.520T>A	9.37:g.94499775A>T	ENSP00000364860:p.Cys174Ser					ROR2_uc004ari.1_Missense_Mutation_p.C34S|ROR2_uc004ark.2_Missense_Mutation_p.C174S	p.C174S	NM_004560	NP_004551	Q01974	ROR2_HUMAN			5	719	-			174			FZ.|Extracellular (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.520T>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199761	0.79015	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.93426	-2.3;-3.22	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.46145	D	0.000307	D	0.96140	0.8742	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.994;1.0	D	0.96653	0.9483	10	0.87932	D	0	.	14.1308	0.65253	1.0:0.0:0.0:0.0	.	174;174;34	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	S	34;174	ENSP00000364867:C34S;ENSP00000364860:C174S	ENSP00000364860:C174S	C	-	1	0	ROR2	93539596	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	8.976000	0.93442	1.969000	0.57287	0.533000	0.62120	TGC		0.512	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			79	45	0	0	0	0.00361	0	79	45				
GRIN3A	116443	broad.mit.edu	37	9	104356939	104356939	+	Intron	SNP	C	C	A	rs267602058		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:104356939C>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Nonsense_Mutation_p.E92*	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AACTTCTGCTCCTCGTCGCCC	0.537																																							uc004bbr.2		NA																	0				ovary(1)|skin(1)	2						c.(274-276)GAG>TAG		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						135.0	127.0	130.0					9																	104356939		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356939C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15297G>T	9.37:g.104356939C>A						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.E92*	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	345	-		Acute lymphoblastic leukemia(62;0.0527)	89			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Nonsense_Mutation	SNP	ENST00000361820.3	37	c.274G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199327	0.79015	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	.	.	.	3.97	3.97	0.46021	.	0.000000	0.42420	D	0.000711	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-37.7539	14.3488	0.66685	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000363939:E92X	E	-	1	0	PPP3R2	103396760	1.000000	0.71417	0.987000	0.45799	0.444000	0.32077	3.777000	0.55364	2.507000	0.84556	0.563000	0.77884	GAG		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			129	60	1	0	1.5108e-63	0.00361	2.35387e-63	129	60				
KIAA0368	23392	broad.mit.edu	37	9	114135595	114135595	+	Splice_Site	SNP	C	C	A	rs201568334		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:114135595C>A	ENST00000338205.5	-	39	4488	c.4269G>T	c.(4267-4269)cgG>cgT	p.R1423R	KIAA0368_ENST00000259335.4_Splice_Site_p.R1601R|KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1429					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTAACTCACCCGAACTAAAT	0.388																																							uc004bfe.1		NA																	0					0						c.(4801-4803)CGG>CGT		KIAA0368 protein		C		0,3672		0,0,1836	132.0	127.0	128.0		4803	5.1	1.0	9		128	1,8183		0,1,4091	yes	coding-synonymous-near-splice	KIAA0368	NM_001080398.1		0,1,5927	AA,AC,CC		0.0122,0.0,0.0084		1601/2018	114135595	1,11855	1836	4092	5928	SO:0001630	splice_region_variant	23392							g.chr9:114135595C>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4269+1G>T	9.37:g.114135595C>A							p.R1601R	NM_001080398	NP_001073867					41	4803	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.4803G>T																																																																																					0.388	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	Silent	151	63	1	0	1.26598e-50	0.00361	1.91755e-50	151	63				
TLR4	7099	broad.mit.edu	37	9	120475527	120475527	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:120475527G>C	ENST00000355622.6	+	3	1222	c.1121G>C	c.(1120-1122)aGc>aCc	p.S374T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S334T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	374					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GATCTACCAAGCCTTGAGTTT	0.388																																							uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1120-1122)AGC>ACC		toll-like receptor 4 precursor							52.0	55.0	54.0					9																	120475527		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475527G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1121G>C	9.37:g.120475527G>C	ENSP00000363089:p.Ser374Thr					TLR4_uc004bka.2_Missense_Mutation_p.S334T|TLR4_uc004bkb.2_Missense_Mutation_p.S174T	p.S374T	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1412	+			374			LRR 11.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1121G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	6.843	0.524683	0.13066	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.25250	1.81;1.81	5.71	-6.12	0.02124	.	0.636913	0.16559	N	0.209111	T	0.23572	0.0570	M	0.64567	1.98	0.09310	N	1	B	0.27910	0.193	B	0.26864	0.074	T	0.06481	-1.0824	10	0.29301	T	0.29	.	17.6189	0.88075	0.8137:0.0:0.1863:0.0	.	374	O00206	TLR4_HUMAN	T	334;374	ENSP00000377997:S334T;ENSP00000363089:S374T	ENSP00000363089:S374T	S	+	2	0	TLR4	119515348	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.478000	0.06575	-1.138000	0.02884	-0.140000	0.14226	AGC		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		58	30	0	0	0	0.00361	0	58	30				
BRINP1	1620	broad.mit.edu	37	9	121929747	121929747	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:121929747C>A	ENST00000265922.3	-	8	2362	c.1901G>T	c.(1900-1902)gGc>gTc	p.G634V	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	634					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGGGCCCTGGCCAGTCTCATT	0.542																																							uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1900-1902)GGC>GTC		deleted in bladder cancer 1 precursor							137.0	134.0	135.0					9																	121929747		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929747C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1901G>T	9.37:g.121929747C>A	ENSP00000265922:p.Gly634Val						p.G634V	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2357	-			634					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1901G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766622	0.49574	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.12255	2.7	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	T	0.03761	-1.1006	10	0.08837	T	0.75	-19.1354	19.3298	0.94281	0.0:1.0:0.0:0.0	.	634	O60477	DBC1_HUMAN	V	634	ENSP00000265922:G634V	ENSP00000265922:G634V	G	-	2	0	DBC1	120969568	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.555000	0.45854	2.650000	0.89964	0.655000	0.94253	GGC		0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		189	93	1	0	3.56531e-90	0.00361	5.62642e-90	189	93				
PRRC2B	84726	broad.mit.edu	37	9	134343086	134343086	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:134343086G>A	ENST00000357304.4	+	12	1912	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	PRRC2B_ENST00000405995.1_Silent_p.K619K|PRRC2B_ENST00000458550.1_Silent_p.K619K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	619	Gln-rich.						poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAGTTCAAGTATCAGAAGT	0.552																																							uc004can.3		NA																	0					0						c.(1855-1857)AAG>AAA		HLA-B associated transcript 2-like							52.0	60.0	57.0					9																	134343086		2053	4210	6263	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134343086G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1857G>A	9.37:g.134343086G>A						BAT2L1_uc010mzj.1_Silent_p.K202K	p.K619K	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			12	1912	+			619			Gln-rich.		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.1857G>A	CCDS48044.1																																																																																				0.552	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				55	20	0	0	0	0.00361	0	55	20				
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:135447890A>C	ENST00000343036.2	+	7	1004	c.956A>C	c.(955-957)cAc>cCc	p.H319P	C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	319										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AACTACACCCACCCCTAGCCC	0.597																																							uc004cbn.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(955-957)CAC>CCC		hypothetical protein LOC389799																																				SO:0001583	missense	389799							g.chr9:135447890A>C	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.956A>C	9.37:g.135447890A>C	ENSP00000343290:p.His319Pro					C9orf171_uc004cbo.2_Missense_Mutation_p.H283P	p.H319P	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			7	1004	+			319					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.956A>C	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187873	0.57909	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24538	1.87;1.85	5.4	4.19	0.49359	.	0.558849	0.17096	N	0.187177	T	0.27967	0.0689	N	0.19112	0.55	0.27154	N	0.961336	D;D	0.64830	0.962;0.994	P;P	0.59889	0.605;0.865	T	0.03910	-1.0993	10	0.42905	T	0.14	.	8.7175	0.34421	0.808:0.192:0.0:0.0	.	283;319	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	P	319;283	ENSP00000343290:H319P;ENSP00000376909:H283P	ENSP00000343290:H319P	H	+	2	0	C9orf171	134437711	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.954000	0.49113	2.060000	0.61445	0.363000	0.22086	CAC		0.597	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		8	41	0	0	0	0.00499	0	8	41				
GTF3C4	9329	broad.mit.edu	37	9	135554876	135554876	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:135554876G>C	ENST00000372146.4	+	2	2434	c.1870G>C	c.(1870-1872)Gaa>Caa	p.E624Q		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	624					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACAGCAGGAAGAAGGCACTTC	0.537																																					Pancreas(142;417 1875 11086 31973 47667)	Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1870-1872)GAA>CAA		general transcription factor IIIC 4							91.0	95.0	94.0					9																	135554876		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554876G>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1870G>C	9.37:g.135554876G>C	ENSP00000361219:p.Glu624Gln					GTF3C4_uc010mzw.2_RNA	p.E624Q	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	2128	+			624					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1870G>C	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538443	0.45176	.	.	ENSG00000125484	ENST00000372146	T	0.52754	0.65	5.52	5.52	0.82312	.	0.113132	0.64402	D	0.000014	T	0.30293	0.0760	N	0.14661	0.345	0.37431	D	0.914013	P	0.43477	0.808	B	0.33960	0.173	T	0.29579	-1.0007	10	0.34782	T	0.22	-29.6642	18.0223	0.89258	0.0:0.0:1.0:0.0	.	624	Q9UKN8	TF3C4_HUMAN	Q	624	ENSP00000361219:E624Q	ENSP00000361219:E624Q	E	+	1	0	GTF3C4	134544697	1.000000	0.71417	0.978000	0.43139	0.855000	0.48748	9.238000	0.95380	2.578000	0.87016	0.655000	0.94253	GAA		0.537	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			77	131	0	0	0	0.00361	0	77	131				
TMEM8C	389827	broad.mit.edu	37	9	136384097	136384097	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:136384097C>A	ENST00000339996.3	-	3	399	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	100					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GTCAGGACGCCGAACATCACA	0.607																																							uc011mdk.1		NA																	0					0						c.(298-300)GGC>TGC		transmembrane protein 8C							145.0	121.0	129.0					9																	136384097		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136384097C>A	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.298G>T	9.37:g.136384097C>A	ENSP00000419712:p.Gly100Cys						p.G100C	NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN			3	298	-			100						Missense_Mutation	SNP	ENST00000339996.3	37	c.298G>T	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785037	0.70222	.	.	ENSG00000187616	ENST00000339996	T	0.48201	0.82	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75772	-0.3200	10	0.72032	D	0.01	-38.3759	17.0532	0.86525	0.0:1.0:0.0:0.0	.	100	A6NI61	TMM8C_HUMAN	C	100	ENSP00000419712:G100C	ENSP00000419712:G100C	G	-	1	0	TMEM8C	135373918	1.000000	0.71417	0.460000	0.27093	0.488000	0.33401	7.246000	0.78247	2.346000	0.79739	0.313000	0.20887	GGC		0.607	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		123	48	1	0	1.51339e-41	0.00361	2.24375e-41	123	48				
SARDH	1757	broad.mit.edu	37	9	136555519	136555519	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:136555519A>G	ENST00000371872.4	-	16	2309	c.2052T>C	c.(2050-2052)agT>agC	p.S684S	SARDH_ENST00000371868.1_Silent_p.S112S|SARDH_ENST00000422262.2_Silent_p.S516S|SARDH_ENST00000439388.1_Silent_p.S684S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	684					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCCCTGGATACTGATCATAC	0.647																																							uc004cep.3		NA																	0					0						c.(2050-2052)AGT>AGC		sarcosine dehydrogenase precursor							58.0	56.0	57.0					9																	136555519		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136555519A>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2052T>C	9.37:g.136555519A>G						SARDH_uc004ceo.2_Silent_p.S684S|SARDH_uc011mdn.1_Silent_p.S684S|SARDH_uc011mdo.1_Silent_p.S516S|SARDH_uc004cen.2_Silent_p.S112S	p.S684S	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	16	2186	-			684					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2052T>C	CCDS6978.1																																																																																				0.647	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			15	79	0	0	0	0.003163	0	15	79				
CACNA1B	774	broad.mit.edu	37	9	140866024	140866024	+	Missense_Mutation	SNP	G	G	C	rs200683607		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:140866024G>C	ENST00000371372.1	+	11	1668	c.1523G>C	c.(1522-1524)cGg>cCg	p.R508P	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R508P|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R509P|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R509P|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R508P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	508					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACCAGCCGCGGCGGCTTACC	0.612																																							uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(1522-1524)CGG>CCG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						79.0	90.0	86.0					9																	140866024		2157	4245	6402	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140866024G>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1523G>C	9.37:g.140866024G>C	ENSP00000360423:p.Arg508Pro					CACNA1B_uc011mfd.1_Missense_Mutation_p.R39P	p.R508P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	11	1668	+	all_cancers(76;0.166)		508			Extracellular (Potential).|II.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1523G>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.822884	0.16678	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36	4.8	3.67	0.42095	.	0.260438	0.37348	N	0.002139	D	0.89227	0.6655	N	0.02286	-0.61	0.80722	D	1	B;B	0.24675	0.109;0.109	B;B	0.23716	0.048;0.029	D	0.83996	0.0340	10	0.36615	T	0.2	.	9.874	0.41191	0.9165:0.0:0.0835:0.0	.	508;508	B1AQK4;B1AQK6	.;.	P	508;508;508;509;509	ENSP00000360423:R508P;ENSP00000277551:R508P;ENSP00000360414:R508P;ENSP00000360408:R509P;ENSP00000360406:R509P	ENSP00000277551:R508P	R	+	2	0	CACNA1B	139985845	1.000000	0.71417	0.982000	0.44146	0.185000	0.23345	4.949000	0.63596	0.797000	0.33971	-0.379000	0.06801	CGG		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		27	9	0	0	0	0.007291	0	27	9				
NLGN4X	57502	broad.mit.edu	37	X	5811608	5811608	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:5811608C>A	ENST00000381095.3	-	6	2328	c.1701G>T	c.(1699-1701)caG>caT	p.Q567H	NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q587H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q567H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q567H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q567H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	567					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGATAGAGCTGGTCTTTGG	0.463																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1699-1701)CAG>CAT		X-linked neuroligin 4 precursor							116.0	112.0	113.0					X																	5811608		2203	4298	6501	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811608C>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1701G>T	X.37:g.5811608C>A	ENSP00000370485:p.Gln567His					NLGN4X_uc004crp.2_Missense_Mutation_p.Q587H|NLGN4X_uc004crq.2_Missense_Mutation_p.Q567H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q604H|NLGN4X_uc004crr.2_Missense_Mutation_p.Q567H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q567H	p.Q567H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2202	-			567			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1701G>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585208	0.28268	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.0	2.15	0.27550	Carboxylesterase, type B (1);	0.000000	0.31347	N	0.007801	T	0.68686	0.3028	M	0.72894	2.215	0.40738	D	0.982804	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.72982	0.971;0.979;0.951	T	0.70967	-0.4728	10	0.87932	D	0	.	6.8915	0.24232	0.0:0.6182:0.0:0.3818	.	624;567;587	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	567;587;567;567;567	ENSP00000370485:Q567H;ENSP00000370483:Q587H;ENSP00000275857:Q567H;ENSP00000370482:Q567H;ENSP00000439203:Q567H	ENSP00000275857:Q567H	Q	-	3	2	NLGN4X	5821608	1.000000	0.71417	0.992000	0.48379	0.245000	0.25701	0.806000	0.27126	1.597000	0.50072	0.513000	0.50165	CAG		0.463	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		48	50	1	0	1.4709e-25	0.00361	1.991e-25	48	50				
TLR7	51284	broad.mit.edu	37	X	12904260	12904260	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:12904260G>A	ENST00000380659.3	+	3	772	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	211					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TGCTCTCCCTGAAAGATAACA	0.358																																							uc004cvc.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(631-633)CTG>CTA		toll-like receptor 7 precursor	Imiquimod(DB00724)						65.0	61.0	62.0					X																	12904260		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904260G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.633G>A	X.37:g.12904260G>A							p.L211L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	772	+			211			Extracellular (Potential).|LRR 7.		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.633G>A	CCDS14151.1																																																																																				0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		4	55	0	0	0	0.009096	0	4	55				
TLR8	51311	broad.mit.edu	37	X	12938346	12938346	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:12938346T>C	ENST00000218032.6	+	2	1274	c.1187T>C	c.(1186-1188)tTa>tCa	p.L396S	TLR8_ENST00000311912.5_Missense_Mutation_p.L414S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	396					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTTCCAAACTTATCGACTATC	0.353																																							uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(1186-1188)TTA>TCA		toll-like receptor 8 precursor							75.0	77.0	76.0					X																	12938346		2200	4297	6497	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938346T>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1187T>C	X.37:g.12938346T>C	ENSP00000218032:p.Leu396Ser					TLR8_uc004cvd.2_Missense_Mutation_p.L414S	p.L396S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1255	+			396			Extracellular (Potential).|LRR 11.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1187T>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732035	0.30684	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.06371	3.31;3.31	5.57	5.57	0.84162	.	0.000000	0.32015	N	0.006717	T	0.44561	0.1299	H	0.99507	4.6	0.24758	N	0.992944	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64689	-0.6348	10	0.87932	D	0	.	13.6543	0.62328	0.0:0.0:0.0:1.0	.	396;414	Q9NR97;D1CS70	TLR8_HUMAN;.	S	396;414	ENSP00000218032:L396S;ENSP00000312082:L414S	ENSP00000218032:L396S	L	+	2	0	TLR8	12848267	0.994000	0.37717	0.004000	0.12327	0.070000	0.16714	4.861000	0.62969	1.978000	0.57642	0.486000	0.48141	TTA		0.353	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		59	63	0	0	0	0.00361	0	59	63				
MAGEB2	4113	broad.mit.edu	37	X	30237251	30237251	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:30237251A>T	ENST00000378988.4	+	2	655	c.554A>T	c.(553-555)gAc>gTc	p.D185V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	185	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GACAAGGTAGACCTCACTGAT	0.502																																							uc004dbz.2		NA																	0				ovary(1)	1						c.(553-555)GAC>GTC		melanoma antigen family B, 2							59.0	46.0	51.0					X																	30237251		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237251A>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.554A>T	X.37:g.30237251A>T	ENSP00000368273:p.Asp185Val						p.D185V	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	657	+			185			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.554A>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.415151	0.42817	.	.	ENSG00000099399	ENST00000378988	T	0.05199	3.48	3.27	3.27	0.37495	.	0.388787	0.27096	N	0.020957	T	0.15565	0.0375	M	0.82323	2.585	0.09310	N	1	P	0.45126	0.851	P	0.50708	0.648	T	0.03095	-1.1073	10	0.51188	T	0.08	.	7.3268	0.26560	1.0:0.0:0.0:0.0	.	185	O15479	MAGB2_HUMAN	V	185	ENSP00000368273:D185V	ENSP00000368273:D185V	D	+	2	0	MAGEB2	30147172	0.006000	0.16342	0.001000	0.08648	0.003000	0.03518	2.286000	0.43496	1.539000	0.49286	0.356000	0.21956	GAC		0.502	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		13	14	0	0	0	0.001855	0	13	14				
FAM47B	170062	broad.mit.edu	37	X	34961344	34961344	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:34961344C>A	ENST00000329357.5	+	1	432	c.396C>A	c.(394-396)gcC>gcA	p.A132A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	132										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATCCCTTGGCCATGTACCCCA	0.557																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(394-396)GCC>GCA		hypothetical protein LOC170062							99.0	86.0	90.0					X																	34961344		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961344C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.396C>A	X.37:g.34961344C>A							p.A132A	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	414	+			132					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.396C>A	CCDS14236.1																																																																																				0.557	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		62	62	1	0	3.79397e-19	0.00361	4.7729e-19	62	62				
RPGR	6103	broad.mit.edu	37	X	38158228	38158228	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:38158228C>G	ENST00000339363.3	-	10	1393	c.1226G>C	c.(1225-1227)cGt>cCt	p.R409P	RPGR_ENST00000318842.7_Missense_Mutation_p.R409P|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.R409P|RPGR_ENST00000338898.3_Missense_Mutation_p.R409P|RPGR_ENST00000378505.2_Missense_Mutation_p.R409P|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	409					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCGCCGCATACGTGCTGATAG	0.378																																							uc004ded.1		NA																	0				ovary(1)	1						c.(1225-1227)CGT>CCT		retinitis pigmentosa GTPase regulator isoform C							82.0	70.0	74.0					X																	38158228		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38158228C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1226G>C	X.37:g.38158228C>G	ENSP00000343671:p.Arg409Pro					RPGR_uc004deb.2_Missense_Mutation_p.R409P|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R94P	p.R409P	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			10	1394	-			409					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1226G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.68|11.68	1.710003|1.710003	0.30322|0.30322	.|.	.|.	ENSG00000156313|ENSG00000156313	ENST00000339363;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505|ENST00000464437	T;T;T;T;T|.	0.56275|.	0.67;0.47;0.89;0.86;0.67|.	5.28|5.28	3.52|3.52	0.40303|0.40303	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.71281|0.71281	0.3321|0.3321	M|M	0.76328|0.76328	2.33|2.33	0.48830|0.48830	D|D	0.999715|0.999715	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.68969|0.68969	-0.5269|-0.5269	10|5	0.87932|.	D|.	0|.	.|.	11.7402|11.7402	0.51788|0.51788	0.0:0.8477:0.0:0.1523|0.0:0.8477:0.0:0.1523	.|.	409;409|.	E9PE28;Q92834-2|.	.;.|.	P|L	409|98	ENSP00000343671:R409P;ENSP00000340208:R409P;ENSP00000322219:R409P;ENSP00000339531:R409P;ENSP00000367766:R409P|.	ENSP00000322219:R409P|.	R|V	-|-	2|1	0|0	RPGR|RPGR	38043172|38043172	1.000000|1.000000	0.71417|0.71417	0.030000|0.030000	0.17652|0.17652	0.002000|0.002000	0.02628|0.02628	4.915000|4.915000	0.63355|0.63355	0.426000|0.426000	0.26116|0.26116	-0.308000|-0.308000	0.09152|0.09152	CGT|GTA		0.378	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		21	51	0	0	0	0.003954	0	21	51				
RBM10	8241	broad.mit.edu	37	X	47034417	47034417	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:47034417G>C	ENST00000377604.3	+	6	1244		c.e6-1		RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTGTCTCCAGGTCAGAGCCG	0.607																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.e6-1		RNA binding motif protein 10 isoform 1							81.0	69.0	73.0					X																	47034417		2203	4300	6503	SO:0001630	splice_region_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47034417G>C	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.503-1G>C	X.37:g.47034417G>C						RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Splice_Site_p.G91_splice|RBM10_uc004dhh.2_Splice_Site_p.G168_splice|RBM10_uc010nhq.2_Splice_Site_p.G91_splice|RBM10_uc004dhi.2_Splice_Site_p.G233_splice	p.G168_splice	NM_005676	NP_005667	P98175	RBM10_HUMAN			6	882	+								C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Splice_Site	SNP	ENST00000377604.3	37	c.503_splice	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612810	0.46631	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1526	0.65395	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM10	46919361	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.465000	0.97660	2.002000	0.58637	0.525000	0.51046	.		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	Intron	24	30	0	0	0	0.00278	0	24	30				
CACNA1F	778	broad.mit.edu	37	X	49076962	49076962	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:49076962C>T	ENST00000376265.2	-	19	2450	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E732K|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E786K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	797	Poly-Glu.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCCTCTTCCTCTTTCTCC	0.587																																							uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2389-2391)GAA>AAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						108.0	65.0	80.0					X																	49076962		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49076962C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2389G>A	X.37:g.49076962C>T	ENSP00000365441:p.Glu797Lys					CACNA1F_uc010nip.2_Missense_Mutation_p.E786K	p.E797K	NM_005183	NP_005174	O60840	CAC1F_HUMAN			19	2451	-			797			Poly-Glu.|Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2389G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	0.607	-0.826734	0.02734	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.11930	2.73;2.73;2.73	5.15	4.29	0.51040	.	0.117980	0.33553	U	0.004794	T	0.10294	0.0252	L	0.45581	1.43	0.23156	N	0.998209	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.40608	-0.9554	10	0.05959	T	0.93	.	8.8269	0.35061	0.0:0.8931:0.0:0.1069	.	786;797	F5CIQ9;O60840	.;CAC1F_HUMAN	K	732;786;797	ENSP00000365427:E732K;ENSP00000321618:E786K;ENSP00000365441:E797K	ENSP00000321618:E786K	E	-	1	0	CACNA1F	48963906	1.000000	0.71417	0.173000	0.22940	0.028000	0.11728	2.727000	0.47311	0.959000	0.37980	0.436000	0.28706	GAA		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	19	0	0	0	0.000602	0	5	19				
CCNB3	85417	broad.mit.edu	37	X	50085236	50085236	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:50085236G>T	ENST00000376042.1	+	9	3850	c.3552G>T	c.(3550-3552)ttG>ttT	p.L1184F	CCNB3_ENST00000348603.2_Missense_Mutation_p.L80F|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1184F|CCNB3_ENST00000376038.1_Missense_Mutation_p.L80F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1184					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCCTGTACTTGGCAGTGAAGC	0.478																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3550-3552)TTG>TTT		cyclin B3 isoform 3							216.0	171.0	186.0					X																	50085236		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50085236G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3552G>T	X.37:g.50085236G>T	ENSP00000365210:p.Leu1184Phe					CCNB3_uc004doy.2_Missense_Mutation_p.L1184F|CCNB3_uc004doz.2_Missense_Mutation_p.L80F|CCNB3_uc010njq.2_Missense_Mutation_p.L76F|CCNB3_uc004dpa.2_Missense_Mutation_p.L23F	p.L1184F	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			9	3850	+	Ovarian(276;0.236)		1184					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3552G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901111	0.72754	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.11	4.24	0.50183	Cyclin, N-terminal (1);Cyclin-like (3);	0.164332	0.41194	D	0.000938	T	0.55513	0.1925	H	0.97564	4.03	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.69351	-0.5168	9	.	.	.	.	11.7588	0.51890	0.0904:0.0:0.9096:0.0	.	1184;80;1184	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	F	1184;80;80;1184	ENSP00000365210:L1184F;ENSP00000365206:L80F;ENSP00000338682:L80F;ENSP00000276014:L1184F	.	L	+	3	2	CCNB3	50101976	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.564000	0.73969	1.049000	0.40321	0.436000	0.28706	TTG		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			63	70	1	0	1.85135e-42	0.00361	2.75733e-42	63	70				
CXorf67	340602	broad.mit.edu	37	X	51151342	51151342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:51151342G>T	ENST00000342995.2	+	1	1576	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	492										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCAGAAATAGAGAGCACAGC	0.507																																							uc004dpj.2		NA																	0					NA						c.(1474-1476)GAG>TAG		hypothetical protein LOC340602							36.0	32.0	33.0					X																	51151342		2203	4300	6503	SO:0001587	stop_gained	0							g.chrX:51151342G>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1474G>T	X.37:g.51151342G>T	ENSP00000342680:p.Glu492*						p.E492*	NM_203407	NP_981952					1	1576	+									Nonsense_Mutation	SNP	ENST00000342995.2	37	c.1474G>T		.	.	.	.	.	.	.	.	.	.	G	19.45	3.830281	0.71258	.	.	ENSG00000187690	ENST00000342995	.	.	.	3.61	2.74	0.32292	.	1.860760	0.03530	N	0.222289	.	.	.	.	.	.	0.22918	N	0.99856	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-1.6772	6.0901	0.19989	0.1441:0.0:0.8559:0.0	.	.	.	.	X	492	.	ENSP00000342680:E492X	E	+	1	0	CXorf67	51168082	0.010000	0.17322	0.001000	0.08648	0.018000	0.09664	0.983000	0.29552	0.904000	0.36572	0.544000	0.68410	GAG		0.507	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		20	36	1	0	4.35082e-09	0.010504	4.84523e-09	20	36				
PAGE5	90737	broad.mit.edu	37	X	55247847	55247847	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:55247847C>T	ENST00000289619.5	+	2	337	c.92C>T	c.(91-93)tCa>tTa	p.S31L	PAGE5_ENST00000374955.3_Missense_Mutation_p.S11L|PAGE5_ENST00000374952.1_Missense_Mutation_p.S11L	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	31										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCCCAATCCTCAGAAAGAGGA	0.333																																							uc004duj.2		NA																	0					0						c.(91-93)TCA>TTA		P antigen family, member 5 isoform 1							110.0	91.0	97.0					X																	55247847		2203	4300	6503	SO:0001583	missense	90737							g.chrX:55247847C>T	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.92C>T	X.37:g.55247847C>T	ENSP00000289619:p.Ser31Leu					PAGE5_uc004duk.2_Missense_Mutation_p.S11L	p.S31L	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			2	334	+			31					Q2NL97|Q5JUL0|Q8WWL9	Missense_Mutation	SNP	ENST00000289619.5	37	c.92C>T	CCDS14368.1	.	.	.	.	.	.	.	.	.	.	.	9.624	1.134497	0.21123	.	.	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	T;T;T	0.09817	2.94;2.94;2.94	1.09	-2.18	0.07037	.	.	.	.	.	T	0.12305	0.0299	M	0.67953	2.075	0.09310	N	1	P	0.40144	0.704	B	0.42462	0.388	T	0.07083	-1.0791	9	0.38643	T	0.18	.	4.1266	0.10129	0.0:0.4617:0.3168:0.2215	.	31	Q96GU1	GGEE1_HUMAN	L	31;11;11	ENSP00000289619:S31L;ENSP00000364093:S11L;ENSP00000364090:S11L	ENSP00000289619:S31L	S	+	2	0	PAGE5	55264572	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.552000	0.02176	-1.774000	0.01288	-0.755000	0.03482	TCA		0.333	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467		3	36	0	0	0	0.009096	0	3	36				
ZXDA	7789	broad.mit.edu	37	X	57935510	57935510	+	Missense_Mutation	SNP	G	G	T	rs138670514		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:57935510G>T	ENST00000358697.4	-	1	1557	c.1345C>A	c.(1345-1347)Cct>Act	p.P449T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	449	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAAAGGAAAGGTCTCTCGCCG	0.507																																							uc004dve.2		NA																	0				ovary(1)	1						c.(1345-1347)CCT>ACT		zinc finger, X-linked, duplicated A							66.0	62.0	64.0					X																	57935510		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935510G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1345C>A	X.37:g.57935510G>T	ENSP00000351530:p.Pro449Thr						p.P449T	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1558	-			449			Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1345C>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.034724	0.54896	.	.	ENSG00000198205	ENST00000358697	T	0.56275	0.47	3.45	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71672	-0.4522	9	.	.	.	.	9.4249	0.38574	0.0:0.0:1.0:0.0	.	449	P98168	ZXDA_HUMAN	T	449	ENSP00000351530:P449T	.	P	-	1	0	ZXDA	57952235	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	4.644000	0.61397	1.967000	0.57214	0.415000	0.27848	CCT		0.507	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		6	109	1	0	0.000157383	0.00308	0.000163558	6	109				
FOXO4	4303	broad.mit.edu	37	X	70320988	70320988	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70320988G>T	ENST00000374259.3	+	2	1240	c.908G>T	c.(907-909)gGt>gTt	p.G303V	FOXO4_ENST00000341558.3_Missense_Mutation_p.G248V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	303					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTCAATGAAGGTCTAGAGCTG	0.572											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004dys.1		NA																	0				central_nervous_system(2)|prostate(1)	3						c.(907-909)GGT>GTT		forkhead box O4							46.0	50.0	48.0					X																	70320988		2112	4196	6308	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70320988G>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.908G>T	X.37:g.70320988G>T	ENSP00000363377:p.Gly303Val		OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.G248V	p.G303V	NM_005938	NP_005929	P98177	FOXO4_HUMAN			2	1261	+	Renal(35;0.156)		303					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.908G>T	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577420	0.28180	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95447	-3.46;-3.71	4.94	1.29	0.21616	.	0.467157	0.23530	N	0.047196	D	0.86674	0.5989	N	0.08118	0	0.41268	D	0.98682	B;B	0.19445	0.036;0.011	B;B	0.25140	0.058;0.018	T	0.73783	-0.3874	10	0.22109	T	0.4	-17.7582	7.613	0.28142	0.7389:0.0:0.2611:0.0	.	248;303	P98177-2;P98177	.;FOXO4_HUMAN	V	303;248	ENSP00000363377:G303V;ENSP00000342209:G248V	ENSP00000342209:G248V	G	+	2	0	FOXO4	70237713	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	3.438000	0.52871	-0.015000	0.14150	-0.415000	0.06103	GGT		0.572	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		24	30	1	0	1.22574e-08	0.002299	1.35121e-08	24	30				
MED12	9968	broad.mit.edu	37	X	70341631	70341631	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70341631C>T	ENST00000374080.3	+	7	1098	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	MED12_ENST00000333646.6_Missense_Mutation_p.R356W|MED12_ENST00000374102.1_Missense_Mutation_p.R356W			Q93074	MED12_HUMAN	mediator complex subunit 12	356					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCCTCAGCACCGGCCCCTGGT	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1066-1068)CGG>TGG		mediator complex subunit 12							73.0	71.0	72.0					X																	70341631		1997	4150	6147	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341631C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1066C>T	X.37:g.70341631C>T	ENSP00000363193:p.Arg356Trp					MED12_uc011mpq.1_Missense_Mutation_p.R356W|MED12_uc004dyz.2_Missense_Mutation_p.R356W|MED12_uc004dza.2_Missense_Mutation_p.R203W	p.R356W	NM_005120	NP_005111	Q93074	MED12_HUMAN			7	1265	+	Renal(35;0.156)		356					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1066C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.14	3.038595	0.55003	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.64	4.78	0.61160	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	M	0.81942	2.565	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.968;0.998;0.992;0.99	T	0.62714	-0.6796	10	0.87932	D	0	-13.6523	8.7607	0.34672	0.149:0.7745:0.0:0.0765	.	356;203;356;356	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	356;356;356;356;324	ENSP00000333125:R356W;ENSP00000363215:R356W;ENSP00000363193:R356W;ENSP00000414203:R324W	ENSP00000333125:R356W	R	+	1	2	MED12	70258356	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.554000	0.45845	1.357000	0.45904	-0.196000	0.12772	CGG		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		33	46	0	0	0	0.012213	0	33	46				
NLGN3	54413	broad.mit.edu	37	X	70384145	70384145	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70384145G>A	ENST00000358741.3	+	6	1183	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.V274I|NLGN3_ENST00000536169.1_Missense_Mutation_p.V254I	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	294					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGCATCCTGCGTCAGCCTCCT	0.597																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzd.1		NA																	0				ovary(1)	1						c.(880-882)GTC>ATC		neuroligin 3							71.0	62.0	65.0					X																	70384145		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70384145G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.880G>A	X.37:g.70384145G>A	ENSP00000351591:p.Val294Ile					NLGN3_uc010nlb.1_Missense_Mutation_p.V254I|NLGN3_uc004dzb.2_Missense_Mutation_p.V274I|NLGN3_uc004dzc.2_Missense_Mutation_p.V157I|NLGN3_uc011mps.1_Missense_Mutation_p.V254I|NLGN3_uc004dze.2_Missense_Mutation_p.V92I|NLGN3_uc011mpr.1_Missense_Mutation_p.V254I	p.V294I	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			5	1080	+	Renal(35;0.156)		294			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.880G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890613	0.91889	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.51	5.51	0.81932	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	L	0.58583	1.82	0.80722	D	1	D;D;D;D	0.89917	0.986;1.0;0.995;0.973	P;D;D;P	0.72625	0.727;0.978;0.926;0.723	T	0.76088	-0.3087	10	0.48119	T	0.1	.	18.4723	0.90779	0.0:0.0:1.0:0.0	.	254;254;294;274	D3DVV1;B7Z5Y1;Q9NZ94;Q9NZ94-2	.;.;NLGN3_HUMAN;.	I	254;157;274;254;294	ENSP00000445298:V254I;ENSP00000363163:V274I;ENSP00000379196:V254I;ENSP00000351591:V294I	ENSP00000351591:V294I	V	+	1	0	NLGN3	70300870	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.657000	0.98554	2.558000	0.86282	0.596000	0.82720	GTC		0.597	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		9	48	0	0	0	0.006214	0	9	48				
ZDHHC15	158866	broad.mit.edu	37	X	74648925	74648925	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:74648925G>C	ENST00000373367.3	-	7	821	c.591C>G	c.(589-591)atC>atG	p.I197M	ZDHHC15_ENST00000373361.3_Intron|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.I188M	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	197					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TCCAGTATTTGATGAAATAGC	0.388																																							uc004ecg.2		NA																	0				ovary(2)	2						c.(589-591)ATC>ATG		zinc finger, DHHC-type containing 15 isoform 1							90.0	85.0	87.0					X																	74648925		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74648925G>C	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.591C>G	X.37:g.74648925G>C	ENSP00000362465:p.Ile197Met					ZDHHC15_uc004ech.2_Missense_Mutation_p.I188M|ZDHHC15_uc011mqo.1_Intron	p.I197M	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			7	1069	-			197			Helical; (Potential).		B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.591C>G	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013216	0.54468	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.25250	1.81;1.81	4.62	4.62	0.57501	.	0.049691	0.85682	D	0.000000	T	0.45558	0.1348	M	0.77486	2.375	0.80722	D	1	P;D	0.89917	0.868;1.0	P;D	0.72338	0.811;0.977	T	0.44877	-0.9299	10	0.51188	T	0.08	2.0383	5.7463	0.18122	0.2267:0.0:0.7733:0.0	.	188;197	B3KVG7;Q96MV8	.;ZDH15_HUMAN	M	197;188	ENSP00000362465:I197M;ENSP00000445420:I188M	ENSP00000362465:I197M	I	-	3	3	ZDHHC15	74565650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.260000	0.74910	0.600000	0.82982	ATC		0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		5	54	0	0	0	0.000602	0	5	54				
CHM	1121	broad.mit.edu	37	X	85149241	85149241	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:85149241G>A	ENST00000357749.2	-	12	1491	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CHM_ENST00000537751.1_Missense_Mutation_p.R340W|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	488					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.R488W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCAATGACCCGAACAGCAAAA	0.378																																							uc004eet.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1462-1464)CGG>TGG		choroideremia isoform a							148.0	122.0	131.0					X																	85149241		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85149241G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1462C>T	X.37:g.85149241G>A	ENSP00000350386:p.Arg488Trp					CHM_uc011mqz.1_Missense_Mutation_p.R340W	p.R488W	NM_000390	NP_000381	P24386	RAE1_HUMAN			12	1492	-		all_lung(315;5.41e-06)	488					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1462C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249888	0.22880	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85411	-1.98;-1.98	5.11	4.25	0.50352	.	0.422409	0.26808	N	0.022393	D	0.91243	0.7240	M	0.87180	2.865	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83027	-0.0164	10	0.46703	T	0.11	-0.5221	5.9672	0.19332	0.3663:0.0:0.6337:0.0	.	488	P24386	RAE1_HUMAN	W	488;340	ENSP00000350386:R488W;ENSP00000441728:R340W	ENSP00000350386:R488W	R	-	1	2	CHM	85035897	0.999000	0.42202	0.014000	0.15608	0.005000	0.04900	1.846000	0.39289	0.942000	0.37525	0.600000	0.82982	CGG		0.378	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		67	54	0	0	0	0.00361	0	67	54				
KLHL4	56062	broad.mit.edu	37	X	86919909	86919909	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:86919909G>T	ENST00000373119.4	+	10	2216	c.2071G>T	c.(2071-2073)Gat>Tat	p.D691Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.D691Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	691						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAGTCATATGATGCACAGAG	0.333																																							uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2071-2073)GAT>TAT		kelch-like 4 isoform 1							130.0	93.0	105.0					X																	86919909		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919909G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2071G>T	X.37:g.86919909G>T	ENSP00000362211:p.Asp691Tyr					KLHL4_uc004efa.2_Missense_Mutation_p.D691Y	p.D691Y	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			10	2253	+			691			Kelch 6.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2071G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880810	0.72294	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.88664	-2.41;-2.41	4.06	4.06	0.47325	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97665	1.0163	10	0.87932	D	0	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	691;691	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Y	691	ENSP00000362211:D691Y;ENSP00000362206:D691Y	ENSP00000362206:D691Y	D	+	1	0	KLHL4	86806565	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.582000	0.74049	2.000000	0.58554	0.415000	0.27848	GAT		0.333	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			4	55	1	0	2.56e-06	0.009096	2.72696e-06	4	55				
TCEAL5	340543	broad.mit.edu	37	X	102529380	102529380	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:102529380C>T	ENST00000372680.1	-	3	406	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	38	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ttttcttcctcgtctgacttt	0.483																																							uc004ejz.1		NA																	0				lung(1)|breast(1)	2						c.(112-114)GAG>AAG		transcription elongation factor A (SII)-like 5							176.0	121.0	140.0					X																	102529380		2203	4300	6503	SO:0001583	missense	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529380C>T		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.112G>A	X.37:g.102529380C>T	ENSP00000361765:p.Glu38Lys						p.E38K	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	407	-			38			Glu-rich.		A2RUJ4	Missense_Mutation	SNP	ENST00000372680.1	37	c.112G>A	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	C	9.932	1.214978	0.22373	.	.	ENSG00000204065	ENST00000372680	T	0.26223	1.75	3.15	2.23	0.28157	.	2.007400	0.02736	N	0.115705	T	0.25121	0.0610	M	0.65975	2.015	0.09310	N	1	B	0.34399	0.452	B	0.28385	0.089	T	0.27054	-1.0085	10	0.10902	T	0.67	.	6.5636	0.22499	0.2849:0.7151:0.0:0.0	.	38	Q5H9L2	TCAL5_HUMAN	K	38	ENSP00000361765:E38K	ENSP00000361765:E38K	E	-	1	0	TCEAL5	102416036	0.001000	0.12720	0.003000	0.11579	0.076000	0.17211	0.772000	0.26647	0.669000	0.31146	0.422000	0.28245	GAG		0.483	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		5	23	0	0	0	0.001168	0	5	23				
KIAA1210	57481	broad.mit.edu	37	X	118250488	118250488	+	Silent	SNP	G	G	A	rs372678895		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:118250488G>A	ENST00000402510.2	-	4	620	c.621C>T	c.(619-621)ccC>ccT	p.P207P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	207										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCCCGAACGGGCTGCAGAG	0.493																																							uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(619-621)CCC>CCT		hypothetical protein LOC57481		G		1,3424		0,0,1,1427,570	135.0	124.0	128.0		621	-2.8	0.0	X		128	0,6504		0,0,0,2353,1798	no	coding-synonymous	KIAA1210	NM_020721.1		0,0,1,3780,2368	AA,AG,A,GG,G		0.0,0.0292,0.0101		207/1710	118250488	1,9928	1998	4151	6149	SO:0001819	synonymous_variant	57481							g.chrX:118250488G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.621C>T	X.37:g.118250488G>A							p.P207P	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			4	621	-			207					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.621C>T	CCDS48156.1																																																																																				0.493	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		19	21	0	0	0	0.002299	0	19	21				
MCTS1	28985	broad.mit.edu	37	X	119746095	119746095	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:119746095G>A	ENST00000371317.5	+	6	779	c.522G>A	c.(520-522)ctG>ctA	p.L174L	MCTS1_ENST00000371315.3_Silent_p.L175L|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	174					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						ATGATGGGCTGTGGCATATGA	0.353																																							uc004esx.2		NA																	0					0						c.(520-522)CTG>CTA		malignant T cell amplified sequence 1 isoform 1							115.0	114.0	114.0					X																	119746095		2203	4300	6503	SO:0001819	synonymous_variant	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119746095G>A	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.522G>A	X.37:g.119746095G>A						MCTS1_uc011mub.1_Silent_p.L175L	p.L174L	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			6	870	+			174					B4DGY2|Q502X6	Silent	SNP	ENST00000371317.5	37	c.522G>A	CCDS14601.1																																																																																				0.353	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		6	182	0	0	0	0.001984	0	6	182				
CT47B1	643311	broad.mit.edu	37	X	120008850	120008850	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:120008850C>G	ENST00000371311.3	-	1	929	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctgGGGGTTTCTCATCTGCGG	0.701																																							uc011muc.1		NA																	0					0						c.(673-675)GAG>GAC		cancer/testis antigen family 147, member B1							41.0	38.0	39.0					X																	120008850		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008850C>G		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.675G>C	X.37:g.120008850C>G	ENSP00000360360:p.Glu225Asp						p.E225D	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	930	-			225					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.675G>C	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139222	0.09083	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.15	0.0215	0.14129	.	.	.	.	.	T	0.19846	0.0477	L	0.29908	0.895	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.23691	-1.0181	8	0.18710	T	0.47	.	4.555	0.12133	0.0:0.5872:0.4128:0.0	.	225	P0C2W7	CT47B_HUMAN	D	225	.	ENSP00000360360:E225D	E	-	3	2	CT47B1	119892878	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.508000	0.06344	-0.039000	0.13602	0.171000	0.16805	GAG		0.701	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		21	237	0	0	0	0.008871	0	21	237				
DCAF12L2	340578	broad.mit.edu	37	X	125299101	125299101	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125299101G>T	ENST00000360028.2	-	1	833	c.807C>A	c.(805-807)gcC>gcA	p.A269A	DCAF12L2_ENST00000538699.1_Silent_p.A269A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGCCGCTGAAGGCCAGGGCCC	0.637																																							uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(805-807)GCC>GCA		DDB1 and CUL4 associated factor 12-like 2							44.0	49.0	47.0					X																	125299101		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299101G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.807C>A	X.37:g.125299101G>T							p.A269A	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	834	-			269			WD 3.		B2RN42	Silent	SNP	ENST00000360028.2	37	c.807C>A	CCDS43991.1																																																																																				0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		31	68	1	0	1.74807e-11	0.010818	2.01305e-11	31	68				
DCAF12L1	139170	broad.mit.edu	37	X	125685659	125685659	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125685659G>A	ENST00000371126.1	-	1	1175	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	311										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTAGGTCAGGCACACATTAT	0.592																																							uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(931-933)TGC>TGT		DDB1 and CUL4 associated factor 12-like 1							69.0	62.0	64.0					X																	125685659		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685659G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.933C>T	X.37:g.125685659G>A							p.C311C	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1184	-			311					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.933C>T	CCDS14610.1																																																																																				0.592	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		42	72	0	0	0	0.013114	0	42	72				
DCAF12L1	139170	broad.mit.edu	37	X	125685862	125685862	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125685862G>T	ENST00000371126.1	-	1	972	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	244										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGACGGATGTGGGCATATACG	0.652																																							uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(730-732)CAC>AAC		DDB1 and CUL4 associated factor 12-like 1							38.0	38.0	38.0					X																	125685862		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685862G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.730C>A	X.37:g.125685862G>T	ENSP00000360167:p.His244Asn						p.H244N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	981	-			244					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.730C>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394615	0.25205	.	.	ENSG00000198889	ENST00000371126	T	0.20069	2.1	4.09	3.22	0.36961	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.37809	N	0.001937	T	0.15003	0.0362	L	0.52206	1.635	0.31234	N	0.696017	B	0.31077	0.307	B	0.21917	0.037	T	0.10683	-1.0619	10	0.23302	T	0.38	.	6.9468	0.24522	0.1258:0.0:0.8742:0.0	.	244	Q5VU92	DC121_HUMAN	N	244	ENSP00000360167:H244N	ENSP00000360167:H244N	H	-	1	0	DCAF12L1	125513543	1.000000	0.71417	0.401000	0.26359	0.009000	0.06853	5.278000	0.65592	1.102000	0.41551	0.425000	0.28330	CAC		0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		27	47	1	0	1.42536e-11	0.004656	1.64529e-11	27	47				
XPNPEP2	7512	broad.mit.edu	37	X	128884515	128884515	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:128884515G>C	ENST00000371106.3	+	8	901	c.709G>C	c.(709-711)Gtc>Ctc	p.V237L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	237						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCCGACTGCCGTCCTTCTGTC	0.597																																							uc004eut.1		NA																	0					0						c.(709-711)GTC>CTC		X-prolyl aminopeptidase 2, membrane-bound							55.0	39.0	45.0					X																	128884515		2202	4296	6498	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128884515G>C	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.709G>C	X.37:g.128884515G>C	ENSP00000360147:p.Val237Leu						p.V237L	NM_003399	NP_003390	O43895	XPP2_HUMAN			8	953	+			237					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.709G>C	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	0.257	-1.002050	0.02128	.	.	ENSG00000122121	ENST00000371106	T	0.37584	1.19	5.12	5.12	0.69794	.	0.060502	0.64402	D	0.000004	T	0.19167	0.0460	N	0.11724	0.165	0.40481	D	0.980446	B	0.19445	0.036	B	0.15484	0.013	T	0.08186	-1.0734	10	0.02654	T	1	-12.84	14.9165	0.70801	0.0:0.0:1.0:0.0	.	237	O43895	XPP2_HUMAN	L	237	ENSP00000360147:V237L	ENSP00000360147:V237L	V	+	1	0	XPNPEP2	128712196	0.998000	0.40836	0.401000	0.26359	0.105000	0.19272	3.038000	0.49783	2.107000	0.64212	0.513000	0.50165	GTC		0.597	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		4	12	0	0	0	0.009096	0	4	12				
ZDHHC9	51114	broad.mit.edu	37	X	128945380	128945380	+	Splice_Site	SNP	A	A	C	rs35699937		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:128945380A>C	ENST00000357166.6	-	9	1273		c.e9+1		ZDHHC9_ENST00000371064.3_Splice_Site	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9						peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGCCCTGAGCACCTGGGGGGC	0.527																																							uc004euv.2		NA																	0				ovary(1)	1						c.e8+1		zinc finger, DHHC domain containing 9							100.0	74.0	82.0					X																	128945380		2203	4300	6503	SO:0001630	splice_region_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128945380A>C	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.881+1T>G	X.37:g.128945380A>C						ZDHHC9_uc004euw.2_Splice_Site_p.S294_splice	p.S294_splice	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN			8	1250	-								B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Splice_Site	SNP	ENST00000357166.6	37	c.881_splice	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957875	0.73902	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2272	0.59921	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZDHHC9	128773061	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	8.910000	0.92685	1.844000	0.53588	0.481000	0.45027	.		0.527	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	Intron	10	78	0	0	0	0.010729	0	10	78				
BCORL1	63035	broad.mit.edu	37	X	129148236	129148236	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:129148236C>T	ENST00000218147.7	+	4	1685	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	BCORL1_ENST00000359304.2_Silent_p.S496S|BCORL1_ENST00000540052.1_Silent_p.S496S|BCORL1_ENST00000303743.5_Silent_p.S496S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	496	Pro-rich.				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						TGCTAGCCTCCCCCGAGCTCC	0.597																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(1486-1488)TCC>TCT		BCL6 co-repressor-like 1							106.0	112.0	110.0					X																	129148236		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148236C>T	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.1488C>T	X.37:g.129148236C>T						BCORL1_uc010nrd.1_Silent_p.S398S	p.S496S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	1602	+			496			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.1488C>T	CCDS14616.1																																																																																				0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		47	233	0	0	0	0.00361	0	47	233				
IGSF1	3547	broad.mit.edu	37	X	130410951	130410951	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:130410951C>A	ENST00000361420.3	-	14	2649	c.2570G>T	c.(2569-2571)tGg>tTg	p.W857L	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.W862L|IGSF1_ENST00000370910.1_Missense_Mutation_p.W848L|IGSF1_ENST00000370904.1_Missense_Mutation_p.W848L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	857	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGCTCAGACCAGATAGAAAA	0.567																																							uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2569-2571)TGG>TTG		immunoglobulin superfamily, member 1 isoform 1							139.0	138.0	138.0					X																	130410951		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130410951C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2570G>T	X.37:g.130410951C>A	ENSP00000355010:p.Trp857Leu					IGSF1_uc004ewe.3_Missense_Mutation_p.W851L|IGSF1_uc004ewf.2_Missense_Mutation_p.W837L	p.W857L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			14	2808	-			857			Extracellular (Potential).|Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2570G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804469	0.50315	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240761	0.30392	N	0.009734	T	0.30262	0.0759	M	0.67625	2.065	0.34990	D	0.754883	B;D;D	0.89917	0.388;1.0;0.994	P;D;D	0.87578	0.592;0.998;0.988	T	0.30937	-0.9961	10	0.41790	T	0.15	.	13.7059	0.62639	0.0:1.0:0.0:0.0	.	848;301;857	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	L	848;857;848;862	ENSP00000359947:W848L;ENSP00000355010:W857L;ENSP00000359941:W848L;ENSP00000359940:W862L	ENSP00000355010:W857L	W	-	2	0	IGSF1	130238632	1.000000	0.71417	0.996000	0.52242	0.715000	0.41141	2.516000	0.45520	2.393000	0.81446	0.600000	0.82982	TGG		0.567	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			131	218	1	0	2.46087e-49	0.00361	3.71023e-49	131	218				
FRMD7	90167	broad.mit.edu	37	X	131234702	131234703	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:131234702_131234703GG>AT	ENST00000298542.4	-	2	274_275	c.99_100CC>AT	c.(97-102)agCCat>agATat	p.33_34SH>RY	FRMD7_ENST00000464296.1_Missense_Mutation_p.33_34SH>RY	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	33	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGATTTAGATGGCTGCAACTCA	0.376																																							uc004ewn.2		NA																	0				skin(1)	1						c.(97-102)AGCCAT>AGATAT		FERM domain containing 7																																				SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131234702_131234703GG>AT	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.99_100delinsAT	X.37:g.131234702_131234703delinsAT	ENSP00000298542:p.S33_H34delinsRY					FRMD7_uc011muy.1_Missense_Mutation_p.33_34SH>RY	p.33_34SH>RY	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			2	277_278	-	Acute lymphoblastic leukemia(192;0.000127)		33_34			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	DNP	ENST00000298542.4	37	c.99_100CC>AT	CCDS35397.1																																																																																				0.376	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		29	80	0	0	0	0.004672	0	29	80				
SAGE1	55511	broad.mit.edu	37	X	134991835	134991835	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:134991835G>T	ENST00000370709.3	+	13	1620	c.1620G>T	c.(1618-1620)atG>atT	p.M540I	SAGE1_ENST00000537770.1_Missense_Mutation_p.M164I|SAGE1_ENST00000535938.1_Missense_Mutation_p.M540I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M540I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	540						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAGGATGGAAAATAACC	0.418																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(1618-1620)ATG>ATT		sarcoma antigen 1							145.0	123.0	130.0					X																	134991835		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134991835G>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1620G>T	X.37:g.134991835G>T	ENSP00000359743:p.Met540Ile					SAGE1_uc010nry.1_Missense_Mutation_p.M509I|SAGE1_uc011mvv.1_Missense_Mutation_p.M164I	p.M540I	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			14	1787	+	Acute lymphoblastic leukemia(192;0.000127)		540					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1620G>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895700	0.33442	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	1.6	1.6	0.23607	.	0.213888	0.30547	U	0.009391	T	0.22399	0.0540	N	0.24115	0.695	0.09310	N	1	B;P	0.41978	0.383;0.767	B;P	0.47915	0.237;0.561	T	0.06041	-1.0849	10	0.27082	T	0.32	.	6.0654	0.19860	0.0:0.0:1.0:0.0	.	164;540	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	I	540;540;164;540	ENSP00000323191:M540I;ENSP00000445959:M540I;ENSP00000438276:M164I;ENSP00000359743:M540I	ENSP00000323191:M540I	M	+	3	0	SAGE1	134819501	1.000000	0.71417	0.476000	0.27291	0.033000	0.12548	0.469000	0.22067	1.078000	0.41014	0.263000	0.19301	ATG		0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		26	126	1	0	1.42536e-11	0.004656	1.64529e-11	26	126				
GPR112	139378	broad.mit.edu	37	X	135482067	135482067	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:135482067G>T	ENST00000394143.1	+	21	8658	c.8367G>T	c.(8365-8367)atG>atT	p.M2789I	GPR112_ENST00000370652.1_Missense_Mutation_p.M2789I|GPR112_ENST00000287534.4_Missense_Mutation_p.M2542I|GPR112_ENST00000394141.1_Missense_Mutation_p.M2584I|GPR112_ENST00000412101.1_Missense_Mutation_p.M2584I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2789					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGATGCTAAACCTGG	0.378																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8365-8367)ATG>ATT		G-protein coupled receptor 112							150.0	130.0	137.0					X																	135482067		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135482067G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8367G>T	X.37:g.135482067G>T	ENSP00000377699:p.Met2789Ile					GPR112_uc010nsb.1_Missense_Mutation_p.M2584I	p.M2789I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8658	+	Acute lymphoblastic leukemia(192;0.000127)		2789			Helical; Name=2; (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8367G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501922	0.44455	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.31	5.31	0.75309	GPCR, family 2-like (1);	.	.	.	.	T	0.40448	0.1117	N	0.10733	0.035	0.23568	N	0.997396	D;D	0.59357	0.985;0.96	P;D	0.63381	0.879;0.914	T	0.47674	-0.9099	9	0.46703	T	0.11	.	17.9149	0.88947	0.0:0.0:1.0:0.0	.	2584;2789	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	I	2789;2789;2584;2542;2584	ENSP00000377699:M2789I;ENSP00000359686:M2789I;ENSP00000416526:M2584I;ENSP00000287534:M2542I;ENSP00000377697:M2584I	ENSP00000287534:M2542I	M	+	3	0	GPR112	135309733	0.321000	0.24625	1.000000	0.80357	0.675000	0.39556	1.122000	0.31295	2.350000	0.79820	0.544000	0.68410	ATG		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	107	1	0	6.44725e-10	0.002299	7.3044e-10	23	107				
ZIC3	7547	broad.mit.edu	37	X	136649403	136649403	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:136649403C>A	ENST00000287538.5	+	1	1103	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZIC3_ENST00000370606.3_Missense_Mutation_p.H185N|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	185					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CAACCAGGTCCACCTGGGGCT	0.692																																							uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(553-555)CAC>AAC		zinc finger protein of the cerebellum 3							25.0	28.0	27.0					X																	136649403		2182	4236	6418	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649403C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.553C>A	X.37:g.136649403C>A	ENSP00000287538:p.His185Asn						p.H185N	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1058	+	Acute lymphoblastic leukemia(192;0.000127)		185					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.553C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	13.39	2.223556	0.39300	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.47869	0.83;0.83	4.68	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.43152	1.355	0.47094	D	0.999317	P	0.37500	0.597	B	0.26310	0.068	T	0.27468	-1.0073	10	0.87932	D	0	.	10.8713	0.46885	0.0:0.9048:0.0:0.0952	.	185	O60481	ZIC3_HUMAN	N	185	ENSP00000287538:H185N;ENSP00000359638:H185N	ENSP00000287538:H185N	H	+	1	0	ZIC3	136477069	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.678000	0.61641	0.970000	0.38263	0.597000	0.82753	CAC		0.692	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			19	75	1	0	6.33239e-15	0.010504	7.59576e-15	19	75				
MAGEC1	9947	broad.mit.edu	37	X	140993278	140993278	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:140993278G>T	ENST00000285879.4	+	4	374	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	30										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGGAGGACTCCCAGTC	0.577										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(88-90)GAC>TAC		melanoma antigen family C, 1							75.0	75.0	75.0					X																	140993278		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140993278G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.88G>T	X.37:g.140993278G>T	ENSP00000285879:p.Asp30Tyr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.D30Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	374	+	Acute lymphoblastic leukemia(192;6.56e-05)		30					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.88G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.002	0.555091	0.13436	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.19806	3.96;2.12	0.149	0.149	0.14863	.	.	.	.	.	T	0.19366	0.0465	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.15065	-1.0450	9	0.87932	D	0	.	5.9897	0.19454	6.0E-4:0.0:0.9994:0.0	.	30	O60732	MAGC1_HUMAN	Y	30;30;29	ENSP00000285879:D30Y;ENSP00000359542:D30Y	ENSP00000285879:D30Y	D	+	1	0	MAGEC1	140820944	0.002000	0.14202	0.098000	0.21074	0.098000	0.18820	-0.136000	0.10405	0.177000	0.19895	0.179000	0.17066	GAC		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		71	90	1	0	2.69673e-31	0.00361	3.78083e-31	71	90				
MAGEC1	9947	broad.mit.edu	37	X	140995410	140995410	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:140995410C>T	ENST00000285879.4	+	4	2506	c.2220C>T	c.(2218-2220)ctC>ctT	p.L740L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	740										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTTCTCTCCAGAGTCCTG	0.557										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2218-2220)CTC>CTT		melanoma antigen family C, 1							128.0	138.0	135.0					X																	140995410		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995410C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2220C>T	X.37:g.140995410C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L740L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2506	+	Acute lymphoblastic leukemia(192;6.56e-05)		740					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2220C>T	CCDS35417.1																																																																																				0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		142	183	0	0	0	0.00361	0	142	183				
SLITRK2	84631	broad.mit.edu	37	X	144905168	144905168	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905168A>T	ENST00000370490.1	+	1	5480	c.1225A>T	c.(1225-1227)Aac>Tac	p.N409Y	SLITRK2_ENST00000428560.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N409Y			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	409					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGGAAACAACAGGATTGC	0.403																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1225-1227)AAC>TAC		SLIT and NTRK-like family, member 2 precursor							110.0	104.0	106.0					X																	144905168		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905168A>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1225A>T	X.37:g.144905168A>T	ENSP00000359521:p.Asn409Tyr					SLITRK2_uc010nsp.2_Missense_Mutation_p.N409Y|SLITRK2_uc010nso.2_Missense_Mutation_p.N409Y|SLITRK2_uc011mwq.1_Missense_Mutation_p.N409Y|SLITRK2_uc011mwr.1_Missense_Mutation_p.N409Y|SLITRK2_uc011mws.1_Missense_Mutation_p.N409Y|SLITRK2_uc004fcg.2_Missense_Mutation_p.N409Y|SLITRK2_uc011mwt.1_Missense_Mutation_p.N409Y	p.N409Y	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2215	+	Acute lymphoblastic leukemia(192;6.56e-05)		409			Extracellular (Potential).|LRR 8.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1225A>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419805	0.62622	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94511	0.7718	10	0.87932	D	0	-10.8007	12.3654	0.55226	1.0:0.0:0.0:0.0	.	409	Q9H156	SLIK2_HUMAN	Y	409	ENSP00000334374:N409Y;ENSP00000411681:N409Y;ENSP00000359521:N409Y;ENSP00000397015:N409Y;ENSP00000407347:N409Y;ENSP00000412010:N409Y	ENSP00000334374:N409Y	N	+	1	0	SLITRK2	144712860	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.339000	0.96797	1.825000	0.53177	0.481000	0.45027	AAC		0.403	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		33	175	0	0	0	0.010818	0	33	175				
SLITRK2	84631	broad.mit.edu	37	X	144905556	144905556	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905556T>G	ENST00000370490.1	+	1	5868	c.1613T>G	c.(1612-1614)aTg>aGg	p.M538R	SLITRK2_ENST00000428560.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.M538R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	538	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGACATCATGGGGCTGAAA	0.493																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1612-1614)ATG>AGG		SLIT and NTRK-like family, member 2 precursor							72.0	67.0	68.0					X																	144905556		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905556T>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1613T>G	X.37:g.144905556T>G	ENSP00000359521:p.Met538Arg					SLITRK2_uc010nsp.2_Missense_Mutation_p.M538R|SLITRK2_uc010nso.2_Missense_Mutation_p.M538R|SLITRK2_uc011mwq.1_Missense_Mutation_p.M538R|SLITRK2_uc011mwr.1_Missense_Mutation_p.M538R|SLITRK2_uc011mws.1_Missense_Mutation_p.M538R|SLITRK2_uc004fcg.2_Missense_Mutation_p.M538R|SLITRK2_uc011mwt.1_Missense_Mutation_p.M538R	p.M538R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2603	+	Acute lymphoblastic leukemia(192;6.56e-05)		538			Extracellular (Potential).|LRRCT 2.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1613T>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856746	0.32791	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.84	5.84	0.93424	Cysteine-rich flanking region, C-terminal (1);	0.109027	0.64402	D	0.000005	T	0.25827	0.0629	N	0.02391	-0.57	0.47659	D	0.99948	B	0.20671	0.047	B	0.24701	0.055	T	0.13124	-1.0521	10	0.41790	T	0.15	-11.6195	12.9065	0.58156	0.0:0.0:0.0:1.0	.	538	Q9H156	SLIK2_HUMAN	R	538	ENSP00000334374:M538R;ENSP00000411681:M538R;ENSP00000359521:M538R;ENSP00000397015:M538R;ENSP00000407347:M538R;ENSP00000412010:M538R	ENSP00000334374:M538R	M	+	2	0	SLITRK2	144713248	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	8.040000	0.89188	1.955000	0.56771	0.486000	0.48141	ATG		0.493	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		20	109	0	0	0	0.010504	0	20	109				
SLITRK2	84631	broad.mit.edu	37	X	144905908	144905908	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905908G>A	ENST00000370490.1	+	1	6220	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	SLITRK2_ENST00000428560.2_Silent_p.R655R|SLITRK2_ENST00000434188.2_Silent_p.R655R|SLITRK2_ENST00000447897.2_Silent_p.R655R|SLITRK2_ENST00000413937.2_Silent_p.R655R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	655					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCGTTCCCAGGAATACCAACA	0.438																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1963-1965)AGG>AGA		SLIT and NTRK-like family, member 2 precursor							97.0	85.0	89.0					X																	144905908		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144905908G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1965G>A	X.37:g.144905908G>A						SLITRK2_uc010nsp.2_Silent_p.R655R|SLITRK2_uc010nso.2_Silent_p.R655R|SLITRK2_uc011mwq.1_Silent_p.R655R|SLITRK2_uc011mwr.1_Silent_p.R655R|SLITRK2_uc011mws.1_Silent_p.R655R|SLITRK2_uc004fcg.2_Silent_p.R655R|SLITRK2_uc011mwt.1_Silent_p.R655R	p.R655R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2955	+	Acute lymphoblastic leukemia(192;6.56e-05)		655			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.1965G>A	CCDS14680.1																																																																																				0.438	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		17	139	0	0	0	0.006122	0	17	139				
FMR1	2332	broad.mit.edu	37	X	147014083	147014083	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:147014083A>T	ENST00000370475.4	+	8	898	c.770A>T	c.(769-771)gAa>gTa	p.E257V	FMR1_ENST00000370471.3_Missense_Mutation_p.E257V|FMR1_ENST00000370470.1_Missense_Mutation_p.E257V|FMR1_ENST00000334557.6_Missense_Mutation_p.E257V|FMR1_ENST00000218200.8_Missense_Mutation_p.E257V|FMR1_ENST00000370477.1_Missense_Mutation_p.E257V|FMR1_ENST00000440235.2_De_novo_Start_OutOfFrame|FMR1_ENST00000439526.2_Missense_Mutation_p.E257V	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	257					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTAGATGAAGATACCTGC	0.363									Fragile X syndrome																														uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(769-771)GAA>GTA		fragile X mental retardation 1							164.0	157.0	159.0					X																	147014083		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014083A>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.770A>T	X.37:g.147014083A>T	ENSP00000359506:p.Glu257Val					FMR1_uc011mwz.1_Missense_Mutation_p.E257V|FMR1_uc004fcj.2_Missense_Mutation_p.E257V|FMR1_uc004fck.3_Missense_Mutation_p.E257V|FMR1_uc004fcl.3_Missense_Mutation_p.E118V|FMR1_uc011mxa.1_5'UTR	p.E257V	NM_002024	NP_002015	Q06787	FMR1_HUMAN			8	959	+	Acute lymphoblastic leukemia(192;6.56e-05)		257					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.770A>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616179	0.87359	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.78	5.78	0.91487	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.85859	2.78	0.80722	D	1	D;P;D;D;P	0.76494	0.999;0.936;0.996;0.994;0.928	D;P;D;P;P	0.81914	0.995;0.759;0.958;0.843;0.714	T	0.70662	-0.4810	10	0.87932	D	0	-12.2479	14.1971	0.65679	1.0:0.0:0.0:0.0	.	257;257;173;257;257	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	V	257	ENSP00000218200:E257V;ENSP00000359502:E257V;ENSP00000359508:E257V;ENSP00000359506:E257V;ENSP00000355115:E257V;ENSP00000395923:E257V;ENSP00000359501:E257V	ENSP00000218200:E257V	E	+	2	0	FMR1	146821775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.891000	0.92485	1.952000	0.56665	0.437000	0.28790	GAA		0.363	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		37	166	0	0	0	0.004878	0	37	166				
AFF2	2334	broad.mit.edu	37	X	148035225	148035225	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:148035225A>T	ENST00000370460.2	+	10	1992	c.1513A>T	c.(1513-1515)Act>Tct	p.T505S	AFF2_ENST00000370457.5_Missense_Mutation_p.T472S|AFF2_ENST00000342251.3_Missense_Mutation_p.T472S|AFF2_ENST00000286437.5_Missense_Mutation_p.T146S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	505					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTAGCACCACTGACAGCGA	0.602																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1513-1515)ACT>TCT		fragile X mental retardation 2							133.0	123.0	126.0					X																	148035225		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035225A>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1513A>T	X.37:g.148035225A>T	ENSP00000359489:p.Thr505Ser					AFF2_uc004fcq.2_Missense_Mutation_p.T495S|AFF2_uc004fcr.2_Missense_Mutation_p.T466S|AFF2_uc011mxb.1_Missense_Mutation_p.T470S|AFF2_uc004fcs.2_Missense_Mutation_p.T472S|AFF2_uc011mxc.1_Missense_Mutation_p.T146S	p.T505S	NM_002025	NP_002016	P51816	AFF2_HUMAN			10	1992	+	Acute lymphoblastic leukemia(192;6.56e-05)		505					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1513A>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	9.678	1.148445	0.21288	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.01	5.01	0.66863	.	0.113289	0.56097	D	0.000024	T	0.27489	0.0675	N	0.01874	-0.695	0.31284	N	0.690256	B;B;B;B;B;B	0.25272	0.046;0.1;0.1;0.1;0.1;0.122	B;B;B;B;B;B	0.24394	0.012;0.032;0.032;0.032;0.032;0.053	T	0.22382	-1.0218	10	0.02654	T	1	.	14.0815	0.64925	1.0:0.0:0.0:0.0	.	146;470;472;466;495;505	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	S	505;472;472;146	ENSP00000359489:T505S;ENSP00000359486:T472S;ENSP00000345459:T472S;ENSP00000286437:T146S	ENSP00000286437:T146S	T	+	1	0	AFF2	147842925	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.310000	0.89971	1.771000	0.52183	0.486000	0.48141	ACT		0.602	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		9	207	0	0	0	0.004482	0	9	207				
MAMLD1	10046	broad.mit.edu	37	X	149638404	149638404	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:149638404C>G	ENST00000370401.2	+	4	869	c.559C>G	c.(559-561)Caa>Gaa	p.Q187E	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q162E|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q187E|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q162E|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	187					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAAATTCAAGACCCTTC	0.502																																							uc004fee.1		NA																	0					0						c.(559-561)CAA>GAA		mastermind-like domain containing 1							94.0	87.0	89.0					X																	149638404		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638404C>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.559C>G	X.37:g.149638404C>G	ENSP00000359428:p.Gln187Glu					MAMLD1_uc011mxt.1_Missense_Mutation_p.Q149E|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q162E|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q162E|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q114E	p.Q187E	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	635	+	Acute lymphoblastic leukemia(192;6.56e-05)		187					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.559C>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571934	0.65765	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.64260	0.32;-0.09;0.32;0.32	5.36	5.36	0.76844	.	0.074487	0.56097	D	0.000030	T	0.75436	0.3849	L	0.54323	1.7	0.80722	D	1	P;D;P;D	0.58268	0.902;0.982;0.597;0.982	B;D;B;D	0.70227	0.418;0.968;0.217;0.968	T	0.74259	-0.3723	9	.	.	.	-8.1699	18.2098	0.89866	0.0:1.0:0.0:0.0	.	149;162;162;187	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	E	149;187;162;187;162	ENSP00000359428:Q187E;ENSP00000414517:Q162E;ENSP00000262858:Q187E;ENSP00000397438:Q162E	.	Q	+	1	0	MAMLD1	149389062	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	5.953000	0.70290	2.237000	0.73441	0.600000	0.82982	CAA		0.502	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		27	170	0	0	0	0.005443	0	27	170				
MAGEA10	4109	broad.mit.edu	37	X	151303180	151303180	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151303180C>T	ENST00000370323.4	-	4	1229	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E305K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	305	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTAATTTCAGCATGAGCC	0.502																																							uc004ffk.2		NA																	0					0						c.(913-915)GAA>AAA		melanoma antigen family A, 10							129.0	123.0	125.0					X																	151303180		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303180C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.913G>A	X.37:g.151303180C>T	ENSP00000359347:p.Glu305Lys					MAGEA10_uc004ffl.2_Missense_Mutation_p.E305K	p.E305K	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1321	-	Acute lymphoblastic leukemia(192;6.56e-05)		305			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.913G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884848	0.51908	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.25912	1.77;1.77	2.6	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46911	-0.9157	10	0.66056	D	0.02	.	7.8732	0.29578	0.0:1.0:0.0:0.0	.	305	P43363	MAGAA_HUMAN	K	305	ENSP00000359347:E305K;ENSP00000244096:E305K	ENSP00000244096:E305K	E	-	1	0	MAGEA10	151053836	0.150000	0.22732	0.008000	0.14137	0.102000	0.19082	1.643000	0.37217	1.567000	0.49668	0.292000	0.19580	GAA		0.502	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		15	222	0	0	0	0.003163	0	15	222				
MAGEA6	4105	broad.mit.edu	37	X	151869911	151869911	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151869911T>C	ENST00000329342.5	+	3	826	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGACAGGCTTCCTGATAAT	0.557																																							uc004ffq.1		NA																	0					0						c.(601-603)TTC>CTC		melanoma antigen family A, 6							130.0	124.0	126.0					X																	151869911		2202	4299	6501	SO:0001583	missense	4105						protein binding	g.chrX:151869911T>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.601T>C	X.37:g.151869911T>C	ENSP00000329199:p.Phe201Leu					MAGEA6_uc004ffr.1_Missense_Mutation_p.F201L|MAGEA2_uc010nto.2_Intron	p.F201L	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	795	+	Acute lymphoblastic leukemia(192;6.56e-05)		201			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.601T>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.218187	0.00286	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.02863	4.13;4.13;4.13	0.605	-0.359	0.12571	.	.	.	.	.	T	0.00552	0.0018	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45659	-0.9246	8	0.02654	T	1	.	.	.	.	.	201	P43360	MAGA6_HUMAN	L	201	ENSP00000329199:F201L;ENSP00000403303:F201L;ENSP00000401806:F201L	ENSP00000329199:F201L	F	+	1	0	MAGEA6	151620567	0.027000	0.19231	0.007000	0.13788	0.019000	0.09904	0.343000	0.19944	-0.230000	0.09840	-1.401000	0.01141	TTC		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		112	161	0	0	0	0.00361	0	112	161				
CSAG1	158511	broad.mit.edu	37	X	151908883	151908883	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151908883G>A	ENST00000370287.3	+	4	450	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSAG1_ENST00000370291.2_Missense_Mutation_p.R41Q|CSAG1_ENST00000452779.2_Missense_Mutation_p.R41Q	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	41										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAACCACGAGCCTCCAGC	0.562																																							uc004fge.2		NA																	0				ovary(1)	1						c.(121-123)CGA>CAA		chondrosarcoma associated gene 1 precursor							248.0	224.0	232.0					X																	151908883		2203	4300	6503	SO:0001583	missense	158511							g.chrX:151908883G>A	AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.122G>A	X.37:g.151908883G>A	ENSP00000359310:p.Arg41Gln					CSAG1_uc004fgf.2_Missense_Mutation_p.R41Q|CSAG1_uc004fgd.2_RNA	p.R41Q	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN			4	450	+	Acute lymphoblastic leukemia(192;6.56e-05)		41					A6NE22	Missense_Mutation	SNP	ENST00000370287.3	37	c.122G>A	CCDS14711.1	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857721	0.17178	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.59083	0.96;0.96;0.29	0.903	-0.442	0.12253	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.32052	-0.9921	8	0.87932	D	0	.	2.8641	0.05595	0.593:0.0:0.407:0.0	.	41	Q6PB30	CSAG1_HUMAN	Q	41	ENSP00000359310:R41Q;ENSP00000396520:R41Q;ENSP00000359314:R41Q	ENSP00000359310:R41Q	R	+	2	0	CSAG1	151659539	0.004000	0.15560	0.015000	0.15790	0.119000	0.20118	-0.113000	0.10774	-0.192000	0.10432	0.284000	0.19432	CGA		0.562	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		41	347	0	0	0	0.007835	0	41	347				
OPN1LW	5956	broad.mit.edu	37	X	153420159	153420159	+	Missense_Mutation	SNP	T	T	C	rs148583295	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:153420159T>C	ENST00000369951.4	+	4	749	c.689T>C	c.(688-690)aTc>aCc	p.I230T	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	230			I -> T (in dbSNP:rs1065425).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGCATCATCCCACTCGCT	0.612													T|||	3	0.000794702	0.0	0.0	3775	,	,		12065	0.0		0.002	False		,,,				2504	0.001						uc004fjz.3		NA																	0					0	GRCh37	CM045801	OPN1LW	M	rs148583295	c.(688-690)ATC>ACC		opsin 1 (cone pigments), long-wave-sensitive		T	THR/ILE	3,3815		0,3,0,1628,556	328.0	233.0	266.0		689	1.8	1.0	X	dbSNP_134	266	19,6658		0,17,2,2409,1823	yes	missense	OPN1LW	NM_020061.4	89	0,20,2,4037,2379	CC,CT,C,TT,T		0.2846,0.0786,0.2096	benign	230/365	153420159	22,10473	2187	4251	6438	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420159T>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.689T>C	X.37:g.153420159T>C	ENSP00000358967:p.Ile230Thr						p.I230T	NM_020061	NP_064445	P04000	OPSR_HUMAN			4	722	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		230			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000369951.4	37	c.689T>C	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	T	6.914	0.538179	0.13188	7.86E-4	0.002846	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.42131	0.98;0.98	4.27	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.207562	0.47455	N	0.000224	T	0.34077	0.0885	L	0.50993	1.605	0.37177	D	0.903302	B	0.15141	0.012	B	0.17979	0.02	T	0.19712	-1.0297	10	0.59425	D	0.04	.	7.6573	0.28383	0.0:0.19:0.0:0.81	.	230	P04000	OPSR_HUMAN	T	230;93	ENSP00000358967:I230T;ENSP00000402493:I93T	ENSP00000358967:I230T	I	+	2	0	OPN1LW	153073353	0.740000	0.28207	0.995000	0.50966	0.054000	0.15201	4.825000	0.62708	0.060000	0.16281	-1.151000	0.01829	ATC		0.612	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		71	322	0	0	0	0.00361	0	71	322				
FLNA	2316	broad.mit.edu	37	X	153590628	153590628	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:153590628G>T	ENST00000369850.3	-	18	2874	c.2638C>A	c.(2638-2640)Cct>Act	p.P880T	FLNA_ENST00000344736.4_Missense_Mutation_p.P880T|FLNA_ENST00000422373.1_Missense_Mutation_p.P880T|FLNA_ENST00000360319.4_Missense_Mutation_p.P880T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	880					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAGGCCAGGGCCCTCGGCC	0.652																																							uc004fkk.2		NA																	0				breast(6)	6						c.(2638-2640)CCT>ACT		filamin A, alpha isoform 2							68.0	72.0	70.0					X																	153590628		2083	4184	6267	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590628G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2638C>A	X.37:g.153590628G>T	ENSP00000358866:p.Pro880Thr					FLNA_uc010nuu.1_Missense_Mutation_p.P880T	p.P880T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			18	2887	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		880			Filamin 7.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2638C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981555	0.74474	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.94009	0.8081	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.97110	1.0;0.973	D	0.95443	0.8527	10	0.87932	D	0	.	17.5374	0.87835	0.0:0.0:1.0:0.0	.	880;880	P21333-2;P21333	.;FLNA_HUMAN	T	880;853;880;880;880	ENSP00000353467:P880T;ENSP00000416926:P880T;ENSP00000358866:P880T;ENSP00000358863:P880T	ENSP00000358863:P880T	P	-	1	0	FLNA	153243822	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	9.734000	0.98822	2.156000	0.67533	0.529000	0.55759	CCT		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			17	106	1	0	3.51602e-12	0.008871	4.09714e-12	17	106				
NLGN4Y	22829	broad.mit.edu	37	Y	16952392	16952392	+	3'UTR	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrY:16952392G>T	ENST00000476359.1	+	0	2246							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CCAAAGACCAGCTCTATCTGC	0.453																																							uc004ftg.2		NA																	0					0						c.(1699-1701)CAG>CAT		neuroligin 4, Y-linked isoform 1																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16952392G>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2243G>T	Y.37:g.16952392G>T						NLGN4Y_uc004fte.2_Missense_Mutation_p.Q399H|NLGN4Y_uc011nas.1_Missense_Mutation_p.Q587H|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q260H|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q567H	p.Q567H	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			6	1953	+			567			Extracellular (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.1701G>T																																																																																					0.453	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		17	11	1	0	1.77063e-15	0.005443	2.15823e-15	17	11				
LRRIQ3	127255	broad.mit.edu	37	1	74575176	74575177	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:74575176_74575177insT	ENST00000395089.1	-	4	767_768	c.768_769insA	c.(766-771)aaatggfs	p.W257fs	LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.W257fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.W149fs			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	257										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATGTAAATCCATTTTGCTTCAT	0.322																																							uc001dfy.3		NA																	0				ovary(2)	2						c.(766-771)AAATGGfs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575176_74575177insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.769dupA	1.37:g.74575180_74575180dupT	ENSP00000378524:p.Trp257fs					LRRIQ3_uc001dfz.3_RNA	p.K256fs	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			5	960_961	-			256_257					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.768_769insA	CCDS41350.1																																																																																				0.322	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		41	79	NA	NA	NA	NA	NA	41	79	---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155220573	155220573	+	Frame_Shift_Del	DEL	C	C	-	rs76634237		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:155220573delC	ENST00000361361.2	-	9	1513	c.1004delG	c.(1003-1005)ggtfs	p.G335fs	FAM189B_ENST00000368368.3_Frame_Shift_Del_p.G317fs|FAM189B_ENST00000350210.2_Frame_Shift_Del_p.G239fs|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	335						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGGAGGTCACCAATGGCTGA	0.672											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fjm.2		NA																	0				ovary(1)|breast(1)	2						c.(1003-1005)GGTfs		hypothetical protein LOC10712 isoform a							12.0	13.0	13.0					1																	155220573		2180	4271	6451	SO:0001589	frameshift_variant	10712					integral to membrane	WW domain binding	g.chr1:155220573delC	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1004delG	1.37:g.155220573delC	ENSP00000354958:p.Gly335fs		OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1769	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Frame_Shift_Del_p.G137fs|FAM189B_uc001fjn.2_Frame_Shift_Del_p.G239fs|FAM189B_uc001fjo.2_Frame_Shift_Del_p.G317fs|FAM189B_uc001fjp.2_Intron	p.G335fs	NM_006589	NP_006580	P81408	F189B_HUMAN			9	1610	-			335					B1AVS5|Q8IXL3|Q9BR66	Frame_Shift_Del	DEL	ENST00000361361.2	37	c.1004delG	CCDS1103.1																																																																																				0.672	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		14	29	NA	NA	NA	NA	NA	14	29	---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224768	206224771	+	Frame_Shift_Del	DEL	GTCA	GTCA	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GTCA	GTCA	-	-	GTCA	GTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:206224768_206224771delGTCA	ENST00000367126.4	+	1	793_796	c.328_331delGTCA	c.(328-333)gtcaagfs	p.VK110fs	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	110					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTGCAGGGCCGTCAAGTACCTGCA	0.647																																							uc001hds.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(328-333)GTCAAGfs		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)																																			SO:0001589	frameshift_variant	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224768_206224771delGTCA	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.328_331delGTCA	1.37:g.206224768_206224771delGTCA	ENSP00000356094:p.Val110fs						p.V110fs	NM_000707	NP_000698	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	486_489	+			110_111			Helical; Name=3; (Potential).		B0M0J6|Q5TZ00	Frame_Shift_Del	DEL	ENST00000367126.4	37	c.328_331delGTCA	CCDS30994.1																																																																																				0.647	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		19	82	NA	NA	NA	NA	NA	19	82	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20949981	20949981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:20949981delC	ENST00000357134.5	+	9	1105	c.953delC	c.(952-954)tccfs	p.S318fs	NELL1_ENST00000532434.1_Frame_Shift_Del_p.S318fs|NELL1_ENST00000298925.5_Frame_Shift_Del_p.S346fs|NELL1_ENST00000325319.5_Frame_Shift_Del_p.S261fs	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	318	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCCCAGACTCCCTCCCAGTG	0.502																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(952-954)TCCfs		nel-like 1 isoform 1 precursor							172.0	136.0	148.0					11																	20949981		2203	4300	6503	SO:0001589	frameshift_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20949981delC	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.953delC	11.37:g.20949981delC	ENSP00000349654:p.Ser318fs					NELL1_uc001mqf.2_Frame_Shift_Del_p.S318fs|NELL1_uc009yid.2_Frame_Shift_Del_p.S346fs|NELL1_uc010rdo.1_Frame_Shift_Del_p.S261fs|NELL1_uc010rdp.1_Frame_Shift_Del_p.S78fs	p.S318fs	NM_006157	NP_006148	Q92832	NELL1_HUMAN			9	1106	+			318			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Frame_Shift_Del	DEL	ENST00000357134.5	37	c.953delC	CCDS7855.1																																																																																				0.502	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		31	71	NA	NA	NA	NA	NA	31	71	---	---	---	---
CD19	930	broad.mit.edu	37	16	28950038	28950039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:28950038_28950039insC	ENST00000324662.3	+	13	1572_1573	c.1528_1529insC	c.(1528-1530)gccfs	p.A510fs	CD19_ENST00000538922.1_Frame_Shift_Ins_p.A511fs|CD19_ENST00000567541.1_Frame_Shift_Ins_p.A511fs			P15391	CD19_HUMAN	CD19 molecule	510					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.Q512fs*>45(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCTGTATGCAGCCCCCCAGCTC	0.609																																							uc002drs.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(1528-1530)GCCfs		CD19 antigen precursor																																				SO:0001589	frameshift_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28950038_28950039insC		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1534dupC	16.37:g.28950044_28950044dupC	ENSP00000313419:p.Ala510fs					uc010vct.1_Intron|CD19_uc010byo.1_Frame_Shift_Ins_p.A511fs	p.A510fs	NM_001770	NP_001761	P15391	CD19_HUMAN			13	1590_1591	+			510			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Frame_Shift_Ins	INS	ENST00000324662.3	37	c.1528_1529insC	CCDS10644.1																																																																																				0.609	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			62	93	NA	NA	NA	NA	NA	62	93	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31374335	31374335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:31374335delC	ENST00000268296.4	+	13	1560	c.1439delC	c.(1438-1440)gccfs	p.A480fs	ITGAX_ENST00000562522.1_Frame_Shift_Del_p.A480fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	480				A -> P (in Ref. 2; AAA51620). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCGGGGCCCCCCATTAC	0.677																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1438-1440)GCCfs		integrin alpha X precursor							46.0	51.0	50.0					16																	31374335		2197	4299	6496	SO:0001589	frameshift_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374335delC	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1439delC	16.37:g.31374335delC	ENSP00000268296:p.Ala480fs					ITGAX_uc002ebt.2_Frame_Shift_Del_p.A480fs|ITGAX_uc010vfk.1_Frame_Shift_Del_p.A130fs	p.A480fs	NM_000887	NP_000878	P20702	ITAX_HUMAN			13	1506	+			480	A -> P (in Ref. 2; AAA51620).		FG-GAP 5.|Extracellular (Potential).		Q8IVA6	Frame_Shift_Del	DEL	ENST00000268296.4	37	c.1439delC	CCDS10711.1																																																																																				0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		85	132	NA	NA	NA	NA	NA	85	132	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50324508	50324508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:50324508delG	ENST00000394697.2	+	3	652	c.312delG	c.(310-312)ttgfs	p.L104fs	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000566433.2_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000254235.3_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000537579.1_Frame_Shift_Del_p.L104fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	104					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGGCCTGCTTGGTGGCGCTGG	0.647																																							uc002egd.1		NA																	0				skin(1)	1						c.(310-312)TTGfs		adenylate cyclase 7	Bromocriptine(DB01200)						76.0	69.0	71.0					16																	50324508		2198	4300	6498	SO:0001589	frameshift_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50324508delG	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.312delG	16.37:g.50324508delG	ENSP00000378187:p.Leu104fs					ADCY7_uc002egb.1_Frame_Shift_Del_p.L104fs|ADCY7_uc002egc.1_Frame_Shift_Del_p.L104fs	p.L104fs	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	2	580	+		all_cancers(37;0.0127)	104			Helical; (Potential).		A0AVA6	Frame_Shift_Del	DEL	ENST00000394697.2	37	c.312delG	CCDS10741.1																																																																																				0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			41	24	NA	NA	NA	NA	NA	41	24	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																							uc002hvi.2		NA																	0					0						c.(70-72)GGAdel		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.G24del	NM_000421	NP_000412	P13645	K1C10_HUMAN			1	96_98	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Head.|Gly-rich.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		7	64	NA	NA	NA	NA	NA	7	64	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36342440	36342440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36342440delC	ENST00000378910.5	-	2	192	c.193delG	c.(193-195)gccfs	p.A65fs	NPHS1_ENST00000353632.6_Frame_Shift_Del_p.A65fs|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	65	Ig-like C2-type 1.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCATCTTTGGCCCATTGCACC	0.667																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(193-195)GCCfs		nephrin precursor							21.0	23.0	22.0					19																	36342440		2203	4297	6500	SO:0001589	frameshift_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342440delC		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.193delG	19.37:g.36342440delC	ENSP00000368190:p.Ala65fs						p.A65fs	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	193	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		65			Extracellular (Potential).|Ig-like C2-type 1.		A6NDH2|C3RX61	Frame_Shift_Del	DEL	ENST00000378910.5	37	c.193delG	CCDS32996.1																																																																																				0.667	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			46	66	NA	NA	NA	NA	NA	46	66	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																														uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3724-3726)AGTfs		son of sevenless homolog 1							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_uc002rrj.3_Frame_Shift_Del_p.S841fs	p.S1242fs	NM_005633	NP_005624	Q07889	SOS1_HUMAN			23	3765	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	254	NA	NA	NA	NA	NA	7	254	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141660521	141660522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:141660521_141660522insG	ENST00000389484.3	-	23	4704_4705	c.3733_3734insC	c.(3733-3735)ctgfs	p.L1245fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1245	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTACATCCAGCTTCCAACCT	0.371										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3733-3735)CTGfs		low density lipoprotein-related protein 1B																																				SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141660521_141660522insG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3734dupC	2.37:g.141660522_141660522dupG	ENSP00000374135:p.Leu1245fs	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Frame_Shift_Ins_p.L427fs	p.L1245fs	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	23	4705_4706	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1245			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	ENST00000389484.3	37	c.3733_3734insC	CCDS2182.1																																																																																				0.371	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	114	NA	NA	NA	NA	NA	10	114	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099354	168099354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:168099354delC	ENST00000409195.1	+	9	1541	c.1452delC	c.(1450-1452)gtcfs	p.V484fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.V262fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.V484fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	309					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTACCAGTCCCCAAAGATG	0.388																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(1450-1452)GTCfs		xin actin-binding repeat containing 2 isoform 1							66.0	62.0	63.0					2																	168099354		1824	4067	5891	SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099354delC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1452delC	2.37:g.168099354delC	ENSP00000386840:p.Val484fs					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Del_p.V309fs|XIRP2_uc010fpq.2_Frame_Shift_Del_p.V262fs|XIRP2_uc010fpr.2_Intron	p.V484fs	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	1470	+			309					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409195.1	37	c.1452delC	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		77	49	NA	NA	NA	NA	NA	77	49	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2539151	2539151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:2539151delG	ENST00000358864.1	+	3	147	c.132delG	c.(130-132)gagfs	p.E44fs		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	44	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCAAAGCCGAGGGGACCCCAG	0.682																																							uc002wgf.1		NA																	0				ovary(3)	3						c.(130-132)GAGfs		transmembrane cochlear-expressed protein 2							7.0	8.0	8.0					20																	2539151		2141	4200	6341	SO:0001589	frameshift_variant	117532					integral to membrane		g.chr20:2539151delG	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.132delG	20.37:g.2539151delG	ENSP00000351732:p.Glu44fs					TMC2_uc002wgg.1_Frame_Shift_Del_p.E28fs|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	p.E44fs	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			3	147	+			44			Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Frame_Shift_Del	DEL	ENST00000358864.1	37	c.132delG	CCDS13029.2																																																																																				0.682	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			4	5	NA	NA	NA	NA	NA	4	5	---	---	---	---
ATR	545	broad.mit.edu	37	3	142279124	142279124	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:142279124delA	ENST00000350721.4	-	6	1643	c.1522delT	c.(1522-1524)tctfs	p.S508fs	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	508					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTTGATGAGAACAATGAACA	0.368								Other conserved DNA damage response genes																															uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(1522-1524)TCTfs	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							115.0	114.0	114.0					3																	142279124		2203	4300	6503	SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142279124delA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1522delT	3.37:g.142279124delA	ENSP00000343741:p.Ser508fs						p.S508fs	NM_001184	NP_001175	Q13535	ATR_HUMAN			6	1644	-			508					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.1522delT	CCDS3124.1																																																																																				0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		38	73	NA	NA	NA	NA	NA	38	73	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915767	26915768	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:26915767_26915768delGT	ENST00000231021.4	-	3	665_666	c.493_494delAC	c.(493-495)actfs	p.T165fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACACTGGCAGTGTATAAGTCT	0.351																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(493-495)ACTfs		cadherin 9, type 2 preproprotein																																				SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915767_26915768delGT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.493_494delAC	5.37:g.26915769_26915770delGT	ENSP00000231021:p.Thr165fs					CDH9_uc010iug.2_Frame_Shift_Del_p.T165fs	p.T165fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	662_663	-			165			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.493_494delAC	CCDS3893.1																																																																																				0.351	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		46	161	NA	NA	NA	NA	NA	46	161	---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50685513	50685513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:50685513delG	ENST00000230658.7	+	4	1097	c.512delG	c.(511-513)cggfs	p.R171fs	ISL1_ENST00000511384.1_Frame_Shift_Del_p.R171fs|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	171					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCAGCCCTGCGGCCCCACGTC	0.726																																							uc003jor.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(511-513)CGGfs		islet-1							25.0	31.0	29.0					5																	50685513		2203	4299	6502	SO:0001589	frameshift_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50685513delG	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.512delG	5.37:g.50685513delG	ENSP00000230658:p.Arg171fs						p.R171fs	NM_002202	NP_002193	P61371	ISL1_HUMAN			4	1060	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	171					P20663|P47894	Frame_Shift_Del	DEL	ENST00000230658.7	37	c.512delG	CCDS43314.1																																																																																				0.726	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		19	40	NA	NA	NA	NA	NA	19	40	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129072886	129072886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:129072886delC	ENST00000274487.4	+	23	3744	c.3599delC	c.(3598-3600)gccfs	p.A1200fs	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1200						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTTCTATGCCCAAAAGCTG	0.473																																							uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(3598-3600)GCCfs		ADAM metallopeptidase with thrombospondin type 1							71.0	60.0	64.0					5																	129072886		2203	4300	6503	SO:0001589	frameshift_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129072886delC	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3599delC	5.37:g.129072886delC	ENSP00000274487:p.Ala1200fs					ADAMTS19_uc010jdh.1_RNA	p.A1200fs	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	23	3599	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1200						Frame_Shift_Del	DEL	ENST00000274487.4	37	c.3599delC	CCDS4146.1																																																																																				0.473	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		10	30	NA	NA	NA	NA	NA	10	30	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131007363	131007364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:131007363_131007364insT	ENST00000510461.1	-	14	2868_2869	c.2773_2774insA	c.(2773-2775)attfs	p.I925fs	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Frame_Shift_Ins_p.I897fs|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.I880fs	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	925					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCCTACAGCAATTTTTTTATCT	0.421																																							uc003kvs.1		NA																	0				pancreas(1)|skin(1)	2						c.(2773-2775)ATTfs		folliculin interacting protein 1 isoform 1																																				SO:0001589	frameshift_variant	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131007363_131007364insT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2774dupA	5.37:g.131007370_131007370dupT	ENSP00000421985:p.Ile925fs					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Frame_Shift_Ins_p.I897fs|FNIP1_uc010jdm.1_Frame_Shift_Ins_p.I880fs	p.I925fs	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	2915_2916	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	925					D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Ins	INS	ENST00000510461.1	37	c.2773_2774insA	CCDS34227.1																																																																																				0.421	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		29	114	NA	NA	NA	NA	NA	29	114	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:169267840delG	ENST00000256935.8	+	27	2863	c.2783delG	c.(2782-2784)cggfs	p.R928fs	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.R420fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2782-2784)CGGfs		dedicator of cytokinesis 2							124.0	107.0	113.0					5																	169267840		2203	4300	6503	SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267840delG	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2783delG	5.37:g.169267840delG	ENSP00000256935:p.Arg928fs					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Frame_Shift_Del_p.R420fs	p.R928fs	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2863	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	928					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.2783delG	CCDS4371.1																																																																																				0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		14	58	NA	NA	NA	NA	NA	14	58	---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29080009	29080010	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:29080009_29080010delGT	ENST00000377169.1	+	1	342_343	c.342_343delGT	c.(340-345)gagtgtfs	p.C115fs		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GAACCACAGAGTGTGTCCTACT	0.51																																							uc011dll.1		NA																	0					0						c.(340-345)GAGTGTfs		olfactory receptor, family 2, subfamily J,																																				SO:0001589	frameshift_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080009_29080010delGT		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.342_343delGT	6.37:g.29080013_29080014delGT	ENSP00000366374:p.Cys115fs						p.E114fs	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	342_343	+			114_115			Helical; Name=3; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Frame_Shift_Del	DEL	ENST00000377169.1	37	c.342_343delGT	CCDS43433.1																																																																																				0.510	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			178	584	NA	NA	NA	NA	NA	178	584	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43251532	43251532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:43251532delG	ENST00000259750.4	+	14	3137	c.3054delG	c.(3052-3054)ccgfs	p.P1018fs		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1018					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAATGGCCCGGCCCTTGCAG	0.667																																							uc003ouq.1		NA																	0				lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(3052-3054)CCGfs		tau tubulin kinase 1							23.0	27.0	26.0					6																	43251532		2176	4237	6413	SO:0001589	frameshift_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251532delG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3054delG	6.37:g.43251532delG	ENSP00000259750:p.Pro1018fs						p.P1018fs	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3333	+			1018					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Frame_Shift_Del	DEL	ENST00000259750.4	37	c.3054delG	CCDS34455.1																																																																																				0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			14	118	NA	NA	NA	NA	NA	14	118	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-	rs138789124		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594																																							uc004bzt.1		NA																	0					0						c.e3+1		PR domain containing 12																																				SO:0001630	splice_region_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543701_133543702delGT	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.570+1GT>-	9.37:g.133543711_133543712delGT							p.E190_splice	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	3	630	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)						A3KFK9	Splice_Site	DEL	ENST00000253008.2	37	c.570_splice	CCDS6934.1																																																																																				0.594	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	Intron	8	114	NA	NA	NA	NA	NA	8	114	---	---	---	---
